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AP1AR adaptor related protein complex 1 associated regulatory protein [ Homo sapiens (human) ]

Gene ID: 55435, updated on 5-Mar-2024

Summary

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Official Symbol
AP1ARprovided by HGNC
Official Full Name
adaptor related protein complex 1 associated regulatory proteinprovided by HGNC
Primary source
HGNC:HGNC:28808
See related
Ensembl:ENSG00000138660 MIM:610851; AllianceGenome:HGNC:28808
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
2C18; GBAR; C4orf16; PRO0971; gamma-BAR
Summary
Enables AP-1 adaptor complex binding activity and kinesin binding activity. Involved in negative regulation of receptor recycling and vesicle targeting, trans-Golgi to endosome. Acts upstream of or within negative regulation of substrate adhesion-dependent cell spreading. Located in Golgi apparatus and transport vesicle. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in small intestine (RPKM 6.6), kidney (RPKM 6.1) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
4q25
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (112231787..112273110)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (115540139..115581470)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (113152943..113194266)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377370 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15633 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21820 Neighboring gene family with sequence similarity 241 member A Neighboring gene ribosomal protein L36a pseudogene 19 Neighboring gene Sharpr-MPRA regulatory region 3285 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:113152716-113153663 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21821 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15636 Neighboring gene AP1AR divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21824 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21825 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15637 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21826 Neighboring gene Sharpr-MPRA regulatory region 9995 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:113230537-113231036 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:113230035-113230536 Neighboring gene TRAF interacting protein with forkhead associated domain Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21827 Neighboring gene alpha kinase 1 Neighboring gene regulator of telomere elongation helicase 1 pseudogene 1

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. Role of AP1 and Gadkin in the traffic of secretory endo-lysosomes. Laulagnier K, et al. Mol Biol Cell, 2011 Jun 15. PMID 21525240, Free PMC Article
  2. A novel subtype of AP-1-binding motif within the palmitoylated trans-Golgi network/endosomal accessory protein Gadkin/gamma-BAR. Maritzen T, et al. J Biol Chem, 2010 Feb 5. PMID 19965873, Free PMC Article
  3. Regulation of endosomal membrane traffic by a Gadkin/AP-1/kinesin KIF5 complex. Schmidt MR, et al. Proc Natl Acad Sci U S A, 2009 Sep 8. PMID 19706427, Free PMC Article
  4. Gamma-BAR, a novel AP-1-interacting protein involved in post-Golgi trafficking. Neubrand VE, et al. EMBO J, 2005 Mar 23. PMID 15775984, Free PMC Article
  5. Gadkin negatively regulates cell spreading and motility via sequestration of the actin-nucleating ARP2/3 complex. Maritzen T, et al. Proc Natl Acad Sci U S A, 2012 Jun 26. PMID 22689987, Free PMC Article

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. conclude that a specific fraction of the AP2-derived endocytic pathway is dedicated to secretory purposes under the control of AP1 and Gadkin
    Title: Role of AP1 and Gadkin in the traffic of secretory endo-lysosomes.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.
  3. Studies unravel the molecular basis for Gadkin-mediated AP-1 recruitment to TGN/endosomal membranes and identify a novel subtype of the AP-1-binding motif.
    Title: A novel subtype of AP-1-binding motif within the palmitoylated trans-Golgi network/endosomal accessory protein Gadkin/gamma-BAR.
  4. Gadkin (gamma-BAR), a peripheral membrane protein localized to the trans-Golgi network and to endosomal vesicles, directly associates with the clathrin adaptor AP-1 and the motor protein kinesin KIF5, potentially regulating endosomal vesicle dynamics.
    Title: Regulation of endosomal membrane traffic by a Gadkin/AP-1/kinesin KIF5 complex.
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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables AP-1 adaptor complex binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables AP-1 adaptor complex binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables kinesin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables kinesin binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of cell motility IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of receptor recycling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within negative regulation of substrate adhesion-dependent cell spreading IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of Arp2/3 complex-mediated actin nucleation IEA
Inferred from Electronic Annotation
more info
  
involved_in substrate adhesion-dependent cell spreading IEA
Inferred from Electronic Annotation
more info
  
involved_in vesicle targeting, trans-Golgi to endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in vesicle targeting, trans-Golgi to endosome IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
  
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in early endosome IEA
Inferred from Electronic Annotation
more info
  
is_active_in endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in late endosome IEA
Inferred from Electronic Annotation
more info
  
located_in transport vesicle IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
AP-1 complex-associated regulatory protein
Names
adapter-related protein complex 1-associated regulatory protein
gadkin
gamma-1-adaptin brefeldin A resistance protein
gamma-A1-adaptin and kinesin interactor
gamma1-adaptin brefeldin A resistance protein, gamma-BAR

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_001128426.3 → NP_001121898.1  AP-1 complex-associated regulatory protein isoform 2

    See identical proteins and their annotated locations for NP_001121898.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the mid-coding region compared to variant 1. The resulting shorter isoform (2) has the same N- and C- termini but lacks an internal protein segment compared to isoform 1.
    Source sequence(s)
    AC109347, AF116612, AI246762, AI798931, BC009485, BU740563, BX498932, CN291547, DA463845
    Consensus CDS
    CCDS47125.1
    Related
    ENSP00000309023.6, ENST00000309703.10
    Conserved Domains (1) summary
    pfam15745
    Location:26 → 269
    AP1AR; AP-1 complex-associated regulatory protein

  2. NM_018569.6 → NP_061039.3  AP-1 complex-associated regulatory protein isoform 1

    See identical proteins and their annotated locations for NP_061039.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC109347, AF116612, AI246762, AI798931, BU740563, BX498932, BX647702, CN291547
    Consensus CDS
    CCDS3696.1
    UniProtKB/Swiss-Prot
    B2RCV7, Q63HQ0, Q96GG6, Q9H0V0, Q9P1L4
    Related
    ENSP00000274000.5, ENST00000274000.10
    Conserved Domains (1) summary
    pfam15745
    Location:26 → 302
    AP1AR; AP-1 complex-associated regulatory protein

RNA

  1. NR_136622.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate acceptor splice site at an internal exon compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC109347, AF116612, AI246762, AI798931, BM823928, BU740563, BX498932, CN291547, DA463845

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
    112231787..112273110
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008380.2 → XP_016863869.1  AP-1 complex-associated regulatory protein isoform X3

    Conserved Domains (1) summary
    pfam15745
    Location:1 → 142
    AP1AR; AP-1 complex-associated regulatory protein

  2. XM_047415928.1 → XP_047271884.1  AP-1 complex-associated regulatory protein isoform X2

  3. XM_047415927.1 → XP_047271883.1  AP-1 complex-associated regulatory protein isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    115540139..115581470
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350446.1 → XP_054206421.1  AP-1 complex-associated regulatory protein isoform X3

  2. XM_054350445.1 → XP_054206420.1  AP-1 complex-associated regulatory protein isoform X2

  3. XM_054350444.1 → XP_054206419.1  AP-1 complex-associated regulatory protein isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q63HQ0.1 GenPept UniProtKB/Swiss-Prot:Q63HQ0

Gene LinkOut

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