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ARFIP1 ADP ribosylation factor interacting protein 1 [ Homo sapiens (human) ]

Gene ID: 27236, updated on 5-Mar-2024

Summary

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Official Symbol
ARFIP1provided by HGNC
Official Full Name
ADP ribosylation factor 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, Apr 2022]
Expression
Ubiquitous expression in gall bladder (RPKM 8.9), colon (RPKM 8.5) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
4q31.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (152779954..152912357)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (156103024..156235555)
105.20220307 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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Related articles in PubMed

  1. Effects of arfaptin 1 on guanine nucleotide-dependent activation of phospholipase D and cholera toxin by ADP-ribosylation factor. Tsai SC, et al. J Biol Chem, 1998 Aug 14. PMID 9694811
  2. Arfaptin-1 negatively regulates Arl1-mediated retrograde transport. Huang LH, et al. PLoS One, 2015. PMID 25789876, Free PMC Article
  3. Arfaptin 1 forms a complex with ADP-ribosylation factor and inhibits phospholipase D. Williger BT, et al. FEBS Lett, 1999 Jul 2. PMID 10413101
  4. Arfaptin 1 inhibits ADP-ribosylation factor-dependent matrix metalloproteinase-9 secretion induced by phorbol ester in HT 1080 fibrosarcoma cells. Ho WT, et al. FEBS Lett, 2003 Feb 27. PMID 12606037
  5. The BAR domain protein Arfaptin-1 controls secretory granule biogenesis at the trans-Golgi network. Gehart H, et al. Dev Cell, 2012 Oct 16. PMID 22981988

See all (45) citations in PubMed

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)

Genotypes

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

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_2023_10

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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