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

    Gene ID: 55435, updated on 28-Oct-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, Oct 2024]
    Expression
    Ubiquitous expression in small intestine (RPKM 6.6), kidney (RPKM 6.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AP1AR in Genome Data Viewer
    Location:
    4q25
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (112231787..112273110)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (115540139..115581470)
    RS_2024_09 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 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 (37) 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 
    enables protein binding IPI
    Inferred from Physical Interaction
    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_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
      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

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

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