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    ARFIP1 ARF interacting protein 1 [ Homo sapiens (human) ]

    Gene ID: 27236, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ARFIP1provided by HGNC
    Official Full Name
    ARF interacting protein 1provided by HGNC
    Primary source
    HGNC:HGNC:21496
    See related
    Ensembl:ENSG00000164144 MIM:605928; AllianceGenome:HGNC:21496
    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
    HSU52521
    Summary
    Enables phosphatidylinositol-4-phosphate binding activity. Involved in negative regulation of retrograde transport, endosome to Golgi. Acts upstream of or within intracellular protein transport and regulation of protein secretion. Located in Golgi membrane; cytosol; and trans-Golgi network membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in gall bladder (RPKM 8.9), colon (RPKM 8.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARFIP1 in Genome Data Viewer
    Location:
    4q31.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (152779954..152912357)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (156103024..156235555)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (153701106..153833509)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:153600783-153601612 Neighboring gene uncharacterized LOC105377495 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22043 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22044 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:153621867-153622378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:153628279-153628780 Neighboring gene NANOG hESC enhancer GRCh37_chr4:153649784-153650339 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:153661870-153662370 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:153669773-153670273 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22045 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22047 Neighboring gene tigger transposable element derived 4 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:153729642-153730323 Neighboring gene NSA2 pseudogene 6 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:153755875-153756375 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:153764305-153765504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:153768357-153768857 Neighboring gene Sharpr-MPRA regulatory region 8200 Neighboring gene Sharpr-MPRA regulatory region 1071 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15753 Neighboring gene FH2 domain containing 1 Neighboring gene family with sequence similarity 192, member A pseudogene Neighboring gene uncharacterized LOC729870

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The binding of arfaptin1, but not arfaptin2, to PI(4)P is regulated by protein kinase D (PKD) mediated phosphorylation at Ser100 within the AH.
      Title: Recruitment of arfaptins to the trans-Golgi network by PI(4)P and their involvement in cargo export.
    2. inhibits ADP-ribosylation factor-dependent matrix metalloproteinase-9 secretion induced by phorbol ester in fibrosarcoma cells
      Title: Arfaptin 1 inhibits ADP-ribosylation factor-dependent matrix metalloproteinase-9 secretion induced by phorbol ester in HT 1080 fibrosarcoma cells.
    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

    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

    • MGC117369

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol-4-phosphate binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phospholipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within intracellular protein transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of retrograde transport, endosome to Golgi IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of Arp2/3 complex-mediated actin nucleation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within regulation of protein secretion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in trans-Golgi network membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in trans-Golgi network membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    arfaptin-1
    Names
    ADP ribosylation factor interacting protein 1

    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_001025593.3 → NP_001020764.1  arfaptin-1 isoform 2

      See identical proteins and their annotated locations for NP_001020764.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1. Variants 2, 3, and 6 encode the same isoform.
      Source sequence(s)
      AC099339, AI634366, AK096509, AK299600, AK304141, BC103759, BC105114
      Consensus CDS
      CCDS3780.1
      UniProtKB/Swiss-Prot
      P53367
      UniProtKB/TrEMBL
      B4E273, Q8N8M9
      Related
      ENSP00000348360.3, ENST00000356064.3
      Conserved Domains (1) summary
      cd07660
      Location:123 → 323
      BAR_Arfaptin; The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin

    2. NM_001025595.3 → NP_001020766.1  arfaptin-1 isoform 1

      See identical proteins and their annotated locations for NP_001020766.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1, 4, and 5 encode the same isoform.
      Source sequence(s)
      AC099339, AI634366, AK096509, AK299600, AK304141, BC103759, BC105114, DC346238
      Consensus CDS
      CCDS34080.1
      UniProtKB/Swiss-Prot
      B4DS69, P53367, Q2M2X4, Q3SYL4, Q9Y2X6
      UniProtKB/TrEMBL
      B4E273, D3DP06
      Related
      ENSP00000296557.4, ENST00000353617.7
      Conserved Domains (1) summary
      cd07660
      Location:155 → 355
      BAR_Arfaptin; The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin

    3. NM_001287431.2 → NP_001274360.1  arfaptin-1 isoform 1

      See identical proteins and their annotated locations for NP_001274360.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1, 4, and 5 encode the same isoform (1).
      Source sequence(s)
      AC099339, AI634366, AK096509, AK299600, AK304141, BC103759
      Consensus CDS
      CCDS34080.1
      UniProtKB/Swiss-Prot
      B4DS69, P53367, Q2M2X4, Q3SYL4, Q9Y2X6
      UniProtKB/TrEMBL
      B4E273, D3DP06
      Related
      ENSP00000395083.2, ENST00000451320.6
      Conserved Domains (1) summary
      cd07660
      Location:155 → 355
      BAR_Arfaptin; The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin

    4. NM_001287432.2 → NP_001274361.1  arfaptin-1 isoform 1

      See identical proteins and their annotated locations for NP_001274361.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. Variants 1, 4, and 5 encode the same isoform (1).
      Source sequence(s)
      AC099339, AI634366, AK096509, AK299600, AK304141, AU139844, BC103759, BC105114
      Consensus CDS
      CCDS34080.1
      UniProtKB/Swiss-Prot
      B4DS69, P53367, Q2M2X4, Q3SYL4, Q9Y2X6
      UniProtKB/TrEMBL
      B4E273, D3DP06
      Conserved Domains (1) summary
      cd07660
      Location:155 → 355
      BAR_Arfaptin; The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin

    5. NM_001287433.2 → NP_001274362.1  arfaptin-1 isoform 2

      See identical proteins and their annotated locations for NP_001274362.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1. Variants 2, 3, and 6 encode the same isoform.
      Source sequence(s)
      AC099339, AI634366, AK096509, AK299600, AK304141, BC103759, BC105114, DA452239
      Consensus CDS
      CCDS3780.1
      UniProtKB/Swiss-Prot
      P53367
      UniProtKB/TrEMBL
      B4E273, Q8N8M9
      Conserved Domains (1) summary
      cd07660
      Location:123 → 323
      BAR_Arfaptin; The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin

    6. NM_014447.4 → NP_055262.1  arfaptin-1 isoform 2

      See identical proteins and their annotated locations for NP_055262.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1. Variants 2, 3, and 6 encode the same isoform.
      Source sequence(s)
      AC099339, AI634366, AK096509, AK290472, AK299600, AK304141
      Consensus CDS
      CCDS3780.1
      UniProtKB/Swiss-Prot
      P53367
      UniProtKB/TrEMBL
      B4E273, Q8N8M9
      Related
      ENSP00000384189.2, ENST00000405727.6
      Conserved Domains (1) summary
      cd07660
      Location:123 → 323
      BAR_Arfaptin; The Bin/Amphiphysin/Rvs (BAR) domain of Arfaptin

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      152779954..152912357
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      156103024..156235555
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P53367.2 GenPept UniProtKB/Swiss-Prot:P53367

    Gene LinkOut

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

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