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    AAGAB alpha and gamma adaptin binding protein [ Homo sapiens (human) ]

    Gene ID: 79719, updated on 23-Nov-2021

    Summary

    Official Symbol
    AAGABprovided by HGNC
    Official Full Name
    alpha and gamma adaptin binding proteinprovided by HGNC
    Primary source
    HGNC:HGNC:25662
    See related
    Ensembl:ENSG00000103591 MIM:614888
    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
    p34; KPPP1; PPKP1; PPKP1A
    Summary
    The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]
    Expression
    Ubiquitous expression in thyroid (RPKM 12.8), colon (RPKM 11.4) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See AAGAB in Genome Data Viewer
    Location:
    15q23
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (67200667..67255198, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (67493005..67547536, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene SMAD family member 3 Neighboring gene FOXA motif-containing MPRA enhancer 105 Neighboring gene Sharpr-MPRA regulatory region 2708 Neighboring gene ribosomal protein S24 pseudogene 16 Neighboring gene IQ motif containing H Neighboring gene VISTA enhancer hs358 Neighboring gene Sharpr-MPRA regulatory region 12968 Neighboring gene IQCH antisense RNA 1

    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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Palmoplantar keratoderma, punctate type 1A
    MedGen: CN031225 OMIM: 148600 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2013-02-28)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2013-02-28)

    ClinGen Genome Curation PagePubMed

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ11506, DKFZp667D2317, DKFZp686G08119

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    alpha- and gamma-adaptin-binding protein p34

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_033007.1 RefSeqGene

      Range
      5001..59524
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001271885.2NP_001258814.1  alpha- and gamma-adaptin-binding protein p34 isoform 2

      See identical proteins and their annotated locations for NP_001258814.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon, which causes translation initiation from an in-frame downstream start codon compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AC012568, AK294402, AL136715, BC035852, BC047026, BQ185328, CB243401, DC315715
      Consensus CDS
      CCDS61679.1
      UniProtKB/Swiss-Prot
      Q6PD74
      Related
      ENSP00000440735.1, ENST00000542650.5
      Conserved Domains (1) summary
      pfam10199
      Location:46185
      Adaptin_binding; Alpha and gamma adaptin binding protein p34
    2. NM_001271886.2NP_001258815.1  alpha- and gamma-adaptin-binding protein p34 isoform 2

      See identical proteins and their annotated locations for NP_001258815.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternatively spliced 5' terminal exon, which causes translation initiation from an in-frame downstream start codon compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AC012568, AL136715, BC035852, BC047026, BQ185328, CB243401, DA160293, DA688370
      Consensus CDS
      CCDS61679.1
      UniProtKB/Swiss-Prot
      Q6PD74
      Related
      ENSP00000453263.1, ENST00000561452.5
      Conserved Domains (1) summary
      pfam10199
      Location:46185
      Adaptin_binding; Alpha and gamma adaptin binding protein p34
    3. NM_024666.5NP_078942.3  alpha- and gamma-adaptin-binding protein p34 isoform 1

      See identical proteins and their annotated locations for NP_078942.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC012568, AL136715, BC035852, BC047026, BQ185328, CB243401, DA688370
      Consensus CDS
      CCDS42050.1
      UniProtKB/Swiss-Prot
      Q6PD74
      Related
      ENSP00000261880.5, ENST00000261880.10
      Conserved Domains (1) summary
      pfam10199
      Location:155294
      Adaptin_binding; Alpha and gamma adaptin binding protein p34

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

      Range
      67200667..67255198 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522020.1XP_011520322.1  alpha- and gamma-adaptin-binding protein p34 isoform X1

      See identical proteins and their annotated locations for XP_011520322.1

      UniProtKB/Swiss-Prot
      Q6PD74
      Conserved Domains (1) summary
      pfam10199
      Location:46185
      Adaptin_binding; Alpha and gamma adaptin binding protein p34
    2. XM_024450052.1XP_024305820.1  alpha- and gamma-adaptin-binding protein p34 isoform X2

      Conserved Domains (1) summary
      pfam10199
      Location:155181
      Adaptin_binding; Alpha and gamma adaptin binding protein p34
    3. XM_024450053.1XP_024305821.1  alpha- and gamma-adaptin-binding protein p34 isoform X3

      Conserved Domains (1) summary
      pfam10199
      Location:155180
      Adaptin_binding; Alpha and gamma adaptin binding protein p34
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