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ARFGAP1 ADP ribosylation factor GTPase activating protein 1 [ Homo sapiens (human) ]

Gene ID: 55738, updated on 13-Feb-2019

Summary

Official Symbol
ARFGAP1provided by HGNC
Official Full Name
ADP ribosylation factor GTPase activating protein 1provided by HGNC
Primary source
HGNC:HGNC:15852
See related
Ensembl:ENSG00000101199 MIM:608377
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ARF1GAP; HRIHFB2281
Summary
The protein encoded by this gene is a GTPase-activating protein, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Expression
Ubiquitous expression in spleen (RPKM 11.8), testis (RPKM 11.1) and 25 other tissues See more
Orthologs

Genomic context

See ARFGAP1 in Genome Data Viewer
Location:
20q13.33
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (63272785..63289793)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (61904137..61921145)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene baculoviral IAP repeat containing 7 Neighboring gene microRNA 3196 Neighboring gene sodium/potassium transporting ATPase interacting 4 Neighboring gene uncharacterized LOC100192386 Neighboring gene microRNA 4326 Neighboring gene collagen type XX alpha 1 chain Neighboring gene RNA, U6 small nuclear 994, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Arf1 pathway, organism-specific biosystem (from Pathway Interaction Database)
    Arf1 pathway, organism-specific biosystem
    Arf1 pathway
  • Asparagine N-linked glycosylation, organism-specific biosystem (from REACTOME)
    Asparagine N-linked glycosylation, organism-specific biosystemN-linked glycosylation is the most important form of post-translational modification for proteins synthesized and folded in the Endoplasmic Reticulum (Stanley et al. 2009). An early study in 1999 rev...
  • COPI-dependent Golgi-to-ER retrograde traffic, organism-specific biosystem (from REACTOME)
    COPI-dependent Golgi-to-ER retrograde traffic, organism-specific biosystemRetrograde traffic from the cis-Golgi to the ERGIC or the ER is mediated in part by microtubule-directed COPI-coated vesicles (Letourneur et al, 1994; Shima et al, 1999; Spang et al, 1998; reviewed i...
  • COPI-mediated anterograde transport, organism-specific biosystem (from REACTOME)
    COPI-mediated anterograde transport, organism-specific biosystemThe ERGIC (ER-to-Golgi intermediate compartment, also known as vesicular-tubular clusters, VTCs) is a stable, biochemically distinct compartment located adjacent to ER exit sites (Ben-Tekaya et al, 2...
  • Clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
  • ER to Golgi Anterograde Transport, organism-specific biosystem (from REACTOME)
    ER to Golgi Anterograde Transport, organism-specific biosystemSecretory cargo destined to be secreted or to arrive at the plasma membrane (PM) leaves the ER via distinct exit sites. This cargo is destined for the Golgi apparatus for further processing.
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Golgi-to-ER retrograde transport, organism-specific biosystem (from REACTOME)
    Golgi-to-ER retrograde transport, organism-specific biosystemRetrograde traffic from the cis-Golgi to the ERGIC or the ER occurs through either COPI-coated vesicles or through a less well characterized RAB6-dependent route that makes use of tubular carriers (r...
  • IRE1alpha activates chaperones, organism-specific biosystem (from REACTOME)
    IRE1alpha activates chaperones, organism-specific biosystemIRE1-alpha is a single-pass transmembrane protein that resides in the endoplasmic reticulum (ER) membrane. The C-terminus of IRE1-alpha is located in the cytosol; the N-terminus is located in the ER ...
  • Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystem (from REACTOME)
    Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystemThe mammalian Golgi complex, a central hub of both anterograde and retrograde trafficking, is a ribbon of stacked cisterna with biochemically distinct compartments (reviewed in Glick and Nakano, 2009...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Transport to the Golgi and subsequent modification, organism-specific biosystem (from REACTOME)
    Transport to the Golgi and subsequent modification, organism-specific biosystemAt least two mechanisms of transport of proteins from the ER to the Golgi have been described. One is a general flow requiring no export signals (Wieland et al, 1987; Martinez-Menarguez et al, 1999)....
  • Unfolded Protein Response (UPR), organism-specific biosystem (from REACTOME)
    Unfolded Protein Response (UPR), organism-specific biosystemThe Unfolded Protein Response (UPR) is a regulatory system that protects the Endoplasmic Reticulum (ER) from overload. The UPR is provoked by the accumulation of improperly folded protein in the ER d...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
  • XBP1(S) activates chaperone genes, organism-specific biosystem (from REACTOME)
    XBP1(S) activates chaperone genes, organism-specific biosystemXbp-1 (S) binds the sequence CCACG in ER Stress Responsive Elements (ERSE, consensus sequence CCAAT (N)9 CCACG) located upstream from many genes. The ubiquitous transcription factor NF-Y, a heterotri...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC39924

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ER to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
IRE1-mediated unfolded protein response TAS
Traceable Author Statement
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of ARF protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
retrograde vesicle-mediated transport, Golgi to ER TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
synapse IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ADP-ribosylation factor GTPase-activating protein 1
Names
ARF1-directed GTPase-activating protein

NCBI Reference Sequences (RefSeq)

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_001281482.1NP_001268411.1  ADP-ribosylation factor GTPase-activating protein 1 isoform c

    See identical proteins and their annotated locations for NP_001268411.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple differences in the coding region, which results in a translational frameshift, compared to variant 2. The encoded isoform (c) has a shorter and distinct C-terminus, compared to isoform b.
    Source sequence(s)
    AA565406, BC000786, DC300118
    Consensus CDS
    CCDS63326.1
    UniProtKB/Swiss-Prot
    Q8N6T3
    Related
    ENSP00000359298.4, ENST00000370275.8
    Conserved Domains (1) summary
    pfam01412
    Location:7114
    ArfGap; Putative GTPase activating protein for Arf
  2. NM_001281483.1NP_001268412.1  ADP-ribosylation factor GTPase-activating protein 1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an exon in the 5' coding region, and initiates translation at an alternate start codon, compared to variant 2. The encoded isoform (d) has a shorter and distinct N-terminus, compared to isoform b.
    Source sequence(s)
    AA565406, AK296351, BC000786, DC300118
    Consensus CDS
    CCDS63327.1
    UniProtKB/Swiss-Prot
    Q8N6T3
    Related
    ENSP00000430500.1, ENST00000519604.5
    Conserved Domains (1) summary
    cl02464
    Location:461
    ArfGap; Putative GTPase activating protein for Arf
  3. NM_001281484.1NP_001268413.1  ADP-ribosylation factor GTPase-activating protein 1 isoform e

    See identical proteins and their annotated locations for NP_001268413.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two exons in the 5' and central coding region, and initiates translation at an alternate start codon, compared to variant 2. The encoded isoform (e) is shorter and has a distinct N-terminus, compared to isoform b.
    Source sequence(s)
    AA565406, AK303454, AK308161, BC000786, DC404137
    Consensus CDS
    CCDS63328.1
    UniProtKB/Swiss-Prot
    Q8N6T3
    Related
    ENSP00000443716.1, ENST00000519273.6
  4. NM_018209.4NP_060679.1  ADP-ribosylation factor GTPase-activating protein 1 isoform a

    See identical proteins and their annotated locations for NP_060679.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an in-frame exon and uses an alternate in-frame splice site in the 3' coding region, compared to variant 2. The encoded isoform (a) is shorter, compared to isoform b.
    Source sequence(s)
    AA565406, AK223427, BC000786, BC028233, DC300118
    Consensus CDS
    CCDS13515.1
    UniProtKB/Swiss-Prot
    Q8N6T3
    UniProtKB/TrEMBL
    Q53F62
    Related
    ENSP00000359306.4, ENST00000370283.8
    Conserved Domains (1) summary
    pfam01412
    Location:7114
    ArfGap; Putative GTPase activating protein for Arf
  5. NM_175609.2NP_783202.1  ADP-ribosylation factor GTPase-activating protein 1 isoform b

    See identical proteins and their annotated locations for NP_783202.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes the longest isoform (b).
    Source sequence(s)
    AA565406, BC011876, BC028233, DC300118
    Consensus CDS
    CCDS13516.1
    UniProtKB/Swiss-Prot
    Q8N6T3
    Related
    ENSP00000314615.3, ENST00000353546.7
    Conserved Domains (1) summary
    pfam01412
    Location:7114
    ArfGap; Putative GTPase activating protein for Arf

RNA

  1. NR_104022.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses an alternate 5' exon structure, compared to variant 2. This variant is represented as non-coding because it lacks a large portion of the coding region, and does not encode a supported protein.
    Source sequence(s)
    AA565406, AK123367, BC000786, BQ717837
    Related
    ENST00000468975.6
  2. NR_104023.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) uses an alternate 5' exon structure, compared to variant 2. This variant is represented as non-coding because it lacks a large portion of the coding region, and does not encode a supported protein.
    Source sequence(s)
    AA565406, BC000786, BC127893, BQ717837
    Related
    ENST00000518794.6

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    63272785..63289793
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528901.2XP_011527203.1  ADP-ribosylation factor GTPase-activating protein 1 isoform X1

    Conserved Domains (1) summary
    pfam01412
    Location:7114
    ArfGap; Putative GTPase activating protein for Arf
  2. XM_006723823.3XP_006723886.1  ADP-ribosylation factor GTPase-activating protein 1 isoform X2

    See identical proteins and their annotated locations for XP_006723886.1

    Conserved Domains (1) summary
    pfam01412
    Location:7114
    ArfGap; Putative GTPase activating protein for Arf
  3. XM_017027950.1XP_016883439.1  ADP-ribosylation factor GTPase-activating protein 1 isoform X1

    Conserved Domains (1) summary
    pfam01412
    Location:7114
    ArfGap; Putative GTPase activating protein for Arf

RNA

  1. XR_936575.2 RNA Sequence

  2. XR_001754330.2 RNA Sequence

  3. XR_936576.2 RNA Sequence

  4. XR_936574.2 RNA Sequence

  5. XR_001754329.2 RNA Sequence

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