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    IQCN IQ motif containing N [ Homo sapiens (human) ]

    Gene ID: 80726, updated on 27-Nov-2024

    Summary

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    Official Symbol
    IQCNprovided by HGNC
    Official Full Name
    IQ motif containing Nprovided by HGNC
    Primary source
    HGNC:HGNC:29350
    See related
    Ensembl:ENSG00000130518 MIM:620160; AllianceGenome:HGNC:29350
    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
    SPGF78; KIAA1683
    Summary
    Involved in spermatid development. Located in mitochondrion. Implicated in spermatogenic failure 78. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 15.0), lung (RPKM 1.4) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IQCN in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (18257098..18274452, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (18391196..18408552, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (18367908..18385262, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102725254 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10379 Neighboring gene phosphodiesterase 4C Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:18330099-18331298 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10380 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14307 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10381 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18342361-18343052 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18359151-18360054 Neighboring gene colon, intestine and stomach enriched 1 Neighboring gene Sharpr-MPRA regulatory region 4774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14309 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14310 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10382 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10383 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:18391566-18392417 Neighboring gene uncharacterized LOC124904652 Neighboring gene microRNA 3188 Neighboring gene JunD proto-oncogene, AP-1 transcription factor subunit

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Loss-of-function mutations in IQCN cause male infertility in humans and mice owing to total fertilization failure. Wang Y, et al. Mol Hum Reprod, 2023 Jun 30. PMID 37184908
    2. Biallelic variants in IQCN cause sperm flagellar assembly defects and male infertility. Li Q, et al. Hum Reprod, 2023 Jul 5. PMID 37140151
    3. IQCN disruption causes fertilization failure and male infertility due to manchette assembly defect. Dai J, et al. EMBO Mol Med, 2022 Dec 7. PMID 36321563, Free PMC Article
    4. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Dec 31. PMID 11214970
    5. LncRNAs-directed PTEN enzymatic switch governs epithelial-mesenchymal transition. Hu Q, et al. Cell Res, 2019 Apr. PMID 30631154, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biallelic variants in IQCN cause sperm flagellar assembly defects and male infertility.
      Title: Biallelic variants in IQCN cause sperm flagellar assembly defects and male infertility.
    2. Loss-of-function mutations in IQCN cause male infertility in humans and mice owing to total fertilization failure.
      Title: Loss-of-function mutations in IQCN cause male infertility in humans and mice owing to total fertilization failure.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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
    Spermatogenic failure 78
    MedGen: C5774276 OMIM: 620170 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC131731

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in spermatid development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    IQ domain-containing protein N

    NCBI Reference Sequences (RefSeq)

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    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_001145304.2 → NP_001138776.1  IQ domain-containing protein N isoform a

      See identical proteins and their annotated locations for NP_001138776.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC008397, AL136867, BC112932, DC403083
      Consensus CDS
      CCDS46017.1
      UniProtKB/Swiss-Prot
      Q9H0B3
      Related
      ENSP00000376213.2, ENST00000392413.5
      Conserved Domains (5) summary
      smart00015
      Location:1137 → 1156
      IQ; Calmodulin-binding motif
      PHA03247
      Location:351 → 862
      PHA03247; large tegument protein UL36; Provisional
      COG5022
      Location:1118 → 1195
      COG5022; Myosin heavy chain [General function prediction only]
      pfam05109
      Location:276 → 558
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam00612
      Location:1116 → 1134
      IQ; IQ calmodulin-binding motif

    2. NM_001145305.2 → NP_001138777.1  IQ domain-containing protein N isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has multiple differences compared to variant 1. These differences result in a distinct 5' UTR, translation initiation at a downstream start codon and lack of an internal in-frame segment, compared to variant 1. The encoded protein (isoform c) is shorter than isoform a.
      Source sequence(s)
      AK302431, AL136867, BC127100, DC403083
      Consensus CDS
      CCDS46018.1
      UniProtKB/Swiss-Prot
      Q9H0B3
      UniProtKB/TrEMBL
      A0JP07
      Related
      ENSP00000472912.1, ENST00000600359.7
      Conserved Domains (6) summary
      smart00015
      Location:904 → 923
      IQ; Calmodulin-binding motif
      PHA03247
      Location:305 → 816
      PHA03247; large tegument protein UL36; Provisional
      COG5022
      Location:885 → 962
      COG5022; Myosin heavy chain [General function prediction only]
      pfam05109
      Location:230 → 512
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      cd22307
      Location:34 → 138
      Adgb_C_mid-like; C-terminal middle region of Androglobins (Adgbs) and related proteins; including permuted globin domain and IQ motif
      pfam00612
      Location:883 → 901
      IQ; IQ calmodulin-binding motif

    3. NM_025249.4 → NP_079525.1  IQ domain-containing protein N isoform b

      See identical proteins and their annotated locations for NP_079525.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the internal coding region compared to variant 1. This results in a shorter protein (isoform b) compared to isoform a.
      Source sequence(s)
      AL136867, DB078391, DC403083
      Consensus CDS
      CCDS32958.1
      UniProtKB/Swiss-Prot
      B4DYH2, E9PDE0, E9PH54, Q2KHR5, Q8N4G8, Q96M14, Q9C0I0, Q9H0B3
      Related
      ENSP00000470780.1, ENST00000600328.7
      Conserved Domains (2) summary
      smart00015
      Location:950 → 969
      IQ; Calmodulin-binding motif
      pfam00612
      Location:929 → 947
      IQ; IQ calmodulin-binding motif

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      18257098..18274452 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005260084.2 → XP_005260141.1  IQ domain-containing protein N isoform X1

      See identical proteins and their annotated locations for XP_005260141.1

      UniProtKB/Swiss-Prot
      Q9H0B3
      Conserved Domains (5) summary
      smart00015
      Location:1137 → 1156
      IQ; Calmodulin-binding motif
      PHA03247
      Location:351 → 862
      PHA03247; large tegument protein UL36; Provisional
      COG5022
      Location:1118 → 1195
      COG5022; Myosin heavy chain [General function prediction only]
      pfam05109
      Location:276 → 558
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam00612
      Location:1116 → 1134
      IQ; IQ calmodulin-binding motif

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      18391196..18408552 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322240.1 → XP_054178215.1  IQ domain-containing protein N isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H0B3.1 GenPept UniProtKB/Swiss-Prot:Q9H0B3

    Gene LinkOut

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

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