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    IQSEC1 IQ motif and Sec7 domain ArfGEF 1 [ Homo sapiens (human) ]

    Gene ID: 9922, updated on 10-Dec-2024

    Summary

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    Official Symbol
    IQSEC1provided by HGNC
    Official Full Name
    IQ motif and Sec7 domain ArfGEF 1provided by HGNC
    Primary source
    HGNC:HGNC:29112
    See related
    Ensembl:ENSG00000144711 MIM:610166; AllianceGenome:HGNC:29112
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BRAG2; GEP100; IDDSSBA; ARFGEP100; ARF-GEP100
    Summary
    Predicted to enable protein kinase binding activity. Predicted to be involved in several processes, including positive regulation of focal adhesion disassembly; positive regulation of keratinocyte migration; and regulation of postsynaptic neurotransmitter receptor internalization. Located in nucleolus. Implicated in intellectual developmental disorder with short stature and behavioral abnormalities and lung adenocarcinoma. Biomarker of lung non-small cell carcinoma. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in brain (RPKM 17.9), bone marrow (RPKM 13.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IQSEC1 in Genome Data Viewer
    Location:
    3p25.2-p25.1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (12897043..13283257, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (12898545..13283599, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (12938542..13324757, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124909346 Neighboring gene microtubule affinity regulating kinase 4 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19455 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14071 Neighboring gene uncharacterized LOC105376956 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:12918177-12918689 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:12917663-12918176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19457 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19458 Neighboring gene long intergenic non-protein coding RNA 2022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:12969075-12969574 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:12977492-12978056 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:12985145-12985725 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:12985857-12986542 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:12986543-12987228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:12988583-12989084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19459 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14073 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:12999703-13000203 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19461 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14074 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14075 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19462 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:13020550-13021749 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14076 Neighboring gene Sharpr-MPRA regulatory region 2966 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:13035123-13035681 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19463 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:13036241-13036799 Neighboring gene Sharpr-MPRA regulatory region 4746 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19464 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19466 Neighboring gene uncharacterized LOC124906214 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19467 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13055383-13055884 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13055885-13056384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:13056642-13057410 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:13057411-13058178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19470 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:13058755-13059554 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:13059555-13060352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:13060353-13061150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19471 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19472 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19474 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14080 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13068313-13068814 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13068815-13069314 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13072358-13073358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13073359-13074357 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13076449-13076949 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19475 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19476 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13083243-13083838 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19477 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19478 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:13088478-13088996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13098528-13099036 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13099037-13099544 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19479 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19480 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14081 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13121681-13122182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13122183-13122682 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14083 Neighboring gene ribosomal protein L39 pseudogene 17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13129843-13130342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13144801-13145570 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19484 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:13202841-13203366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13212946-13213470 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13213471-13213994 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13215820-13216320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:13234555-13235161 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:13235162-13235768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13239281-13239901 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:13240462-13241008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13250445-13250980 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:13250981-13251518 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13261232-13261755 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13261756-13262278 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13262279-13262801 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13273335-13273836 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:13279021-13279625 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:13279626-13280229 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:13283606-13283809 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13295276-13296085 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13296086-13296894 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:13298218-13298718 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:13298719-13299219 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13301694-13302474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13318107-13318607 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:13318634-13318918 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13319003-13319504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19485 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:13363927-13364126 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13368365-13368866 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13368867-13369366 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:13372259-13372426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19487 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:13387355-13388236 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:13389121-13390003 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:13388237-13389120 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:13390887-13391769 Neighboring gene nucleoporin 210 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:13415591-13416092 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:13430034-13430534 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:13432338-13432896 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:13440837-13441368 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:13441369-13441898 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:13442941-13443441 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19489 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19490 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14084 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14085 Neighboring gene NUP210-HDAC11 intergenic CAGE-defined high expression enhancer Neighboring gene PRR3 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. GEP100 regulates epidermal growth factor-induced MDA-MB-231 breast cancer cell invasion through the activation of Arf6/ERK/uPAR signaling pathway. Hu Z, et al. Exp Cell Res, 2013 Aug 1. PMID 23747719
    2. The pleckstrin homology (PH) domain of the Arf exchange factor Brag2 is an allosteric binding site. Jian X, et al. J Biol Chem, 2012 Jul 13. PMID 22613714, Free PMC Article
    3. An ARF GTPase module promoting invasion and metastasis through regulating phosphoinositide metabolism. Nacke M, et al. Nat Commun, 2021 Mar 12. PMID 33712589, Free PMC Article
    4. Co-overexpression of GEP100 and AMAP1 proteins correlates with rapid local recurrence after breast conservative therapy. Kinoshita R, et al. PLoS One, 2013. PMID 24116160, Free PMC Article
    5. BRAG2/GEP100/IQSec1 interacts with clathrin and regulates α5β1 integrin endocytosis through activation of ADP ribosylation factor 5 (Arf5). Moravec R, et al. J Biol Chem, 2012 Sep 7. PMID 22815487, Free PMC Article

    See all (78) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Contribution of gene polymorphisms on 3p25 to salivary gland carcinoma, ameloblastoma, and odontogenic keratocyst in the Chinese Han population.
      Title: Contribution of gene polymorphisms on 3p25 to salivary gland carcinoma, ameloblastoma, and odontogenic keratocyst in the Chinese Han population.
    2. circ-Iqsec1 induces bone marrow-derived mesenchymal stem cell (BMSC) osteogenic differentiation through the miR-187-3p/Satb2 signaling pathway.
      Title: circ-Iqsec1 induces bone marrow-derived mesenchymal stem cell (BMSC) osteogenic differentiation through the miR-187-3p/Satb2 signaling pathway.
    3. An ARF GTPase module promoting invasion and metastasis through regulating phosphoinositide metabolism.
      Title: An ARF GTPase module promoting invasion and metastasis through regulating phosphoinositide metabolism.
    4. Calcium-stimulated disassembly of focal adhesions mediated by an ORP3/IQSec1 complex.
      Title: Calcium-stimulated disassembly of focal adhesions mediated by an ORP3/IQSec1 complex.
    5. IQSEC1 variants are the cause of a recessive disease with intellectual disability.
      Title: Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
    6. both Arf6 activation through GluN2B-BRAG1 during early development and the transition from BRAG1- to BRAG2-dependent Arf6 signaling induced by the GluN2 subunit switch are critical for the development of mature glutamatergic synapses.
      Title: Subunit-selective N-Methyl-d-aspartate (NMDA) Receptor Signaling through Brefeldin A-resistant Arf Guanine Nucleotide Exchange Factors BRAG1 and BRAG2 during Synapse Maturation.
    7. Brag2 is essential for developmental and pathological angiogenesis by promoting endothelial cell sprouting through regulation of adhesion by beta1-integrin internalization and link for the first time the process of beta1-integrin endocytosis with angiogenesis.
      Title: Brag2 differentially regulates β1- and β3-integrin-dependent adhesion in endothelial cells and is involved in developmental and pathological angiogenesis.
    8. The EGFR-GEP100-Arf6 axis affected the prognosis of patients with primary lung adenocarcinoma.
      Title: Epidermal growth factor receptor-GEP100-Arf6 axis affects the prognosis of lung adenocarcinoma.
    9. Data show that co-overexpression of GEP100 and AMAP1 (ASAP1) correlates with rapidity of the local recurrence.
      Title: Co-overexpression of GEP100 and AMAP1 proteins correlates with rapid local recurrence after breast conservative therapy.
    10. GEP100 regulates an Arf6/ERK/uPAR signaling cascade in EGF-induced breast cancer cell invasion.
      Title: GEP100 regulates epidermal growth factor-induced MDA-MB-231 breast cancer cell invasion through the activation of Arf6/ERK/uPAR signaling pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Intellectual developmental disorder with short stature and behavioral abnormalities
    MedGen: C5231462 OMIM: 618687 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide association study of chronic periodontitis in a general German population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0763

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in dendritic spine development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of focal adhesion disassembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of keratinocyte migration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of ARF protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in synaptic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    IQ motif and SEC7 domain-containing protein 1
    Names
    ADP-ribosylation factors guanine nucleotide-exchange protein 100
    ADP-ribosylation factors guanine nucleotide-exchange protein 2
    IQ motif and Sec7 domain 1
    brefeldin A-resistant ARF-GEF2
    brefeldin-resistant Arf-GEF 2 protein
    epididymis secretory sperm binding protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001134382.3 → NP_001127854.1  IQ motif and SEC7 domain-containing protein 1 isoform a

      Status: VALIDATED

      Source sequence(s)
      AC018836, AC069271, AK294525, AY653734
      Consensus CDS
      CCDS74902.1
      UniProtKB/TrEMBL
      B4DGC5
      Related
      ENSP00000480301.1, ENST00000613206.2
      Conserved Domains (2) summary
      cd13318
      Location:735 → 865
      PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
      pfam01369
      Location:510 → 698
      Sec7; Sec7 domain

    2. NM_001330619.3 → NP_001317548.1  IQ motif and SEC7 domain-containing protein 1 isoform c

      Status: VALIDATED

      Source sequence(s)
      AC018836, AC069271, KF495709
      Consensus CDS
      CCDS87048.1
      UniProtKB/TrEMBL
      A0A0C4DGT3, A0A3B3IU98
      Related
      ENSP00000478001.1, ENST00000618604.4
      Conserved Domains (2) summary
      cd13318
      Location:627 → 757
      PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
      pfam01369
      Location:402 → 590
      Sec7; Sec7 domain

    3. NM_001376938.2 → NP_001363867.1  IQ motif and SEC7 domain-containing protein 1 isoform d

      Status: VALIDATED

      Source sequence(s)
      AC018836, AC069246, AC069271, KF495709
      Consensus CDS
      CCDS93218.1
      UniProtKB/TrEMBL
      A0A3B3IRZ4, B4DGC5
      Related
      ENSP00000497029.1, ENST00000648114.1
      Conserved Domains (2) summary
      pfam01369
      Location:618 → 806
      Sec7; Sec7 domain
      pfam16453
      Location:838 → 968
      IQ_SEC7_PH; PH domain

    4. NM_014869.8 → NP_055684.3  IQ motif and SEC7 domain-containing protein 1 isoform b

      See identical proteins and their annotated locations for NP_055684.3

      Status: VALIDATED

      Source sequence(s)
      AC018836, AC069271
      Consensus CDS
      CCDS33703.1
      UniProtKB/Swiss-Prot
      A0A087WWK8, O94863, Q6DN90, Q96D85
      UniProtKB/TrEMBL
      A0A2R8Y7T6
      Related
      ENSP00000273221.4, ENST00000273221.8
      Conserved Domains (2) summary
      cd13318
      Location:749 → 879
      PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
      pfam01369
      Location:524 → 712
      Sec7; Sec7 domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      12897043..13283257 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449348.1 → XP_047305304.1  IQ motif and SEC7 domain-containing protein 1 isoform X12

      UniProtKB/TrEMBL
      A0A2R8Y7T6

    2. XM_047449340.1 → XP_047305296.1  IQ motif and SEC7 domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      B4DGC5

    3. XM_047449347.1 → XP_047305303.1  IQ motif and SEC7 domain-containing protein 1 isoform X11

      UniProtKB/TrEMBL
      A0A2R8Y7T6

    4. XM_047449339.1 → XP_047305295.1  IQ motif and SEC7 domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      B4DGC5

    5. XM_047449346.1 → XP_047305302.1  IQ motif and SEC7 domain-containing protein 1 isoform X10

      UniProtKB/TrEMBL
      A0A2R8Y7T6

    6. XM_047449358.1 → XP_047305314.1  IQ motif and SEC7 domain-containing protein 1 isoform X20

      UniProtKB/TrEMBL
      A0A2R8Y7T6

    7. XM_047449357.1 → XP_047305313.1  IQ motif and SEC7 domain-containing protein 1 isoform X19

      UniProtKB/TrEMBL
      A0A2R8Y7T6

    8. XM_047449342.1 → XP_047305298.1  IQ motif and SEC7 domain-containing protein 1 isoform X7

      UniProtKB/TrEMBL
      B4DGC5

    9. XM_047449354.1 → XP_047305310.1  IQ motif and SEC7 domain-containing protein 1 isoform X16

      UniProtKB/TrEMBL
      A0A2R8Y7T6

    10. XM_011534307.3 → XP_011532609.1  IQ motif and SEC7 domain-containing protein 1 isoform X4

      UniProtKB/TrEMBL
      B4DGC5
      Conserved Domains (2) summary
      cd13318
      Location:750 → 880
      PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
      pfam01369
      Location:525 → 713
      Sec7; Sec7 domain

    11. XM_047449352.1 → XP_047305308.1  IQ motif and SEC7 domain-containing protein 1 isoform X14

      UniProtKB/TrEMBL
      A0A2R8Y7T6
      Related
      ENSP00000495163.1, ENST00000647458.1

    12. XM_047449341.1 → XP_047305297.1  IQ motif and SEC7 domain-containing protein 1 isoform X6

      UniProtKB/TrEMBL
      B4DGC5

    13. XM_047449353.1 → XP_047305309.1  IQ motif and SEC7 domain-containing protein 1 isoform X15

      UniProtKB/TrEMBL
      A0A2R8Y7T6

    14. XM_011534306.4 → XP_011532608.1  IQ motif and SEC7 domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      B4DGC5
      Conserved Domains (2) summary
      cd13318
      Location:750 → 880
      PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
      pfam01369
      Location:525 → 713
      Sec7; Sec7 domain

    15. XM_011534313.3 → XP_011532615.1  IQ motif and SEC7 domain-containing protein 1 isoform X9

      See identical proteins and their annotated locations for XP_011532615.1

      UniProtKB/TrEMBL
      B4DGC5
      Conserved Domains (2) summary
      cd13318
      Location:627 → 757
      PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
      pfam01369
      Location:402 → 590
      Sec7; Sec7 domain

    16. XM_047449349.1 → XP_047305305.1  IQ motif and SEC7 domain-containing protein 1 isoform X13

      UniProtKB/TrEMBL
      B4DGC5

    17. XM_047449360.1 → XP_047305316.1  IQ motif and SEC7 domain-containing protein 1 isoform X21

      UniProtKB/TrEMBL
      A0A0C4DGT3, A0A3B3IU98

    18. XM_011534311.3 → XP_011532613.1  IQ motif and SEC7 domain-containing protein 1 isoform X9

      See identical proteins and their annotated locations for XP_011532613.1

      UniProtKB/TrEMBL
      B4DGC5
      Conserved Domains (2) summary
      cd13318
      Location:627 → 757
      PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
      pfam01369
      Location:402 → 590
      Sec7; Sec7 domain

    19. XM_047449361.1 → XP_047305317.1  IQ motif and SEC7 domain-containing protein 1 isoform X21

      UniProtKB/TrEMBL
      A0A0C4DGT3, A0A3B3IU98

    20. XM_011534312.3 → XP_011532614.1  IQ motif and SEC7 domain-containing protein 1 isoform X9

      See identical proteins and their annotated locations for XP_011532614.1

      UniProtKB/TrEMBL
      B4DGC5
      Conserved Domains (2) summary
      cd13318
      Location:627 → 757
      PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
      pfam01369
      Location:402 → 590
      Sec7; Sec7 domain

    21. XM_047449345.1 → XP_047305301.1  IQ motif and SEC7 domain-containing protein 1 isoform X9

      UniProtKB/TrEMBL
      B4DGC5

    22. XM_047449359.1 → XP_047305315.1  IQ motif and SEC7 domain-containing protein 1 isoform X21

      UniProtKB/TrEMBL
      A0A0C4DGT3, A0A3B3IU98

    23. XM_047449350.1 → XP_047305306.1  IQ motif and SEC7 domain-containing protein 1 isoform X13

      UniProtKB/TrEMBL
      B4DGC5

    24. XM_011534314.3 → XP_011532616.1  IQ motif and SEC7 domain-containing protein 1 isoform X9

      See identical proteins and their annotated locations for XP_011532616.1

      UniProtKB/TrEMBL
      B4DGC5
      Conserved Domains (2) summary
      cd13318
      Location:627 → 757
      PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
      pfam01369
      Location:402 → 590
      Sec7; Sec7 domain

    25. XM_047449356.1 → XP_047305312.1  IQ motif and SEC7 domain-containing protein 1 isoform X18

      UniProtKB/TrEMBL
      A0A2R8Y7T6

    26. XM_047449343.1 → XP_047305299.1  IQ motif and SEC7 domain-containing protein 1 isoform X8

      UniProtKB/TrEMBL
      B4DGC5

    27. XM_047449355.1 → XP_047305311.1  IQ motif and SEC7 domain-containing protein 1 isoform X17

      UniProtKB/TrEMBL
      A0A2R8Y7T6

    28. XM_011534308.3 → XP_011532610.1  IQ motif and SEC7 domain-containing protein 1 isoform X5

      UniProtKB/TrEMBL
      B4DGC5
      Conserved Domains (2) summary
      cd13318
      Location:749 → 879
      PH_IQSEC; IQ motif and SEC7 domain-containing protein family Pleckstrin homology domain
      pfam01369
      Location:524 → 712
      Sec7; Sec7 domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      12898545..13283599 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348621.1 → XP_054204596.1  IQ motif and SEC7 domain-containing protein 1 isoform X12

      UniProtKB/TrEMBL
      A0A2R8Y7T6

    2. XM_054348611.1 → XP_054204586.1  IQ motif and SEC7 domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      B4DGC5

    3. XM_054348620.1 → XP_054204595.1  IQ motif and SEC7 domain-containing protein 1 isoform X11

      UniProtKB/TrEMBL
      A0A2R8Y7T6

    4. XM_054348610.1 → XP_054204585.1  IQ motif and SEC7 domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      B4DGC5

    5. XM_054348619.1 → XP_054204594.1  IQ motif and SEC7 domain-containing protein 1 isoform X10

      UniProtKB/TrEMBL
      A0A2R8Y7T6

    6. XM_054348634.1 → XP_054204609.1  IQ motif and SEC7 domain-containing protein 1 isoform X20

      UniProtKB/TrEMBL
      A0A2R8Y7T6

    7. XM_054348633.1 → XP_054204608.1  IQ motif and SEC7 domain-containing protein 1 isoform X19

      UniProtKB/TrEMBL
      A0A2R8Y7T6

    8. XM_054348616.1 → XP_054204591.1  IQ motif and SEC7 domain-containing protein 1 isoform X7

      UniProtKB/TrEMBL
      B4DGC5

    9. XM_054348630.1 → XP_054204605.1  IQ motif and SEC7 domain-containing protein 1 isoform X16

      UniProtKB/TrEMBL
      A0A2R8Y7T6

    10. XM_054348613.1 → XP_054204588.1  IQ motif and SEC7 domain-containing protein 1 isoform X4

      UniProtKB/TrEMBL
      B4DGC5

    11. XM_054348628.1 → XP_054204603.1  IQ motif and SEC7 domain-containing protein 1 isoform X14

      UniProtKB/TrEMBL
      A0A2R8Y7T6

    12. XM_054348612.1 → XP_054204587.1  IQ motif and SEC7 domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      B4DGC5

    13. XM_054348629.1 → XP_054204604.1  IQ motif and SEC7 domain-containing protein 1 isoform X15

      UniProtKB/TrEMBL
      A0A2R8Y7T6

    14. XM_054348615.1 → XP_054204590.1  IQ motif and SEC7 domain-containing protein 1 isoform X6

      UniProtKB/TrEMBL
      B4DGC5

    15. XM_054348625.1 → XP_054204600.1  IQ motif and SEC7 domain-containing protein 1 isoform X9

      UniProtKB/TrEMBL
      B4DGC5

    16. XM_054348626.1 → XP_054204601.1  IQ motif and SEC7 domain-containing protein 1 isoform X13

      UniProtKB/TrEMBL
      B4DGC5

    17. XM_054348622.1 → XP_054204597.1  IQ motif and SEC7 domain-containing protein 1 isoform X9

      UniProtKB/TrEMBL
      B4DGC5

    18. XM_054348636.1 → XP_054204611.1  IQ motif and SEC7 domain-containing protein 1 isoform X21

      UniProtKB/TrEMBL
      A0A0C4DGT3, A0A3B3IU98

    19. XM_054348637.1 → XP_054204612.1  IQ motif and SEC7 domain-containing protein 1 isoform X21

      UniProtKB/TrEMBL
      A0A0C4DGT3, A0A3B3IU98

    20. XM_054348624.1 → XP_054204599.1  IQ motif and SEC7 domain-containing protein 1 isoform X9

      UniProtKB/TrEMBL
      B4DGC5

    21. XM_054348618.1 → XP_054204593.1  IQ motif and SEC7 domain-containing protein 1 isoform X9

      UniProtKB/TrEMBL
      B4DGC5

    22. XM_054348635.1 → XP_054204610.1  IQ motif and SEC7 domain-containing protein 1 isoform X21

      UniProtKB/TrEMBL
      A0A0C4DGT3, A0A3B3IU98

    23. XM_054348627.1 → XP_054204602.1  IQ motif and SEC7 domain-containing protein 1 isoform X13

      UniProtKB/TrEMBL
      B4DGC5

    24. XM_054348623.1 → XP_054204598.1  IQ motif and SEC7 domain-containing protein 1 isoform X9

      UniProtKB/TrEMBL
      B4DGC5

    25. XM_054348631.1 → XP_054204606.1  IQ motif and SEC7 domain-containing protein 1 isoform X17

      UniProtKB/TrEMBL
      A0A2R8Y7T6

    26. XM_054348614.1 → XP_054204589.1  IQ motif and SEC7 domain-containing protein 1 isoform X5

      UniProtKB/TrEMBL
      B4DGC5

    27. XM_054348632.1 → XP_054204607.1  IQ motif and SEC7 domain-containing protein 1 isoform X18

      UniProtKB/TrEMBL
      A0A2R8Y7T6

    28. XM_054348617.1 → XP_054204592.1  IQ motif and SEC7 domain-containing protein 1 isoform X8

      UniProtKB/TrEMBL
      B4DGC5
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6DN90.1 GenPept UniProtKB/Swiss-Prot:Q6DN90

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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