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

Gene ID: 79719, updated on 7-Jun-2020

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

Genomic context

See AAGAB in Genome Data Viewer
Location:
15q23
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (67200667..67255198, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (67493013..67547536, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723493 Neighboring gene HNF4 motif-containing MPRA enhancer 189 Neighboring gene SMAD family member 3 Neighboring gene FOXA motif-containing MPRA enhancer 105 Neighboring gene ribosomal protein S24 pseudogene 16 Neighboring gene IQ motif containing H Neighboring gene VISTA enhancer hs358 Neighboring gene IQCH antisense RNA 1 Neighboring gene chromosome 15 open reading frame 61

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
Keratosis palmoplantaris papulosa
MedGen: C1835662 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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
protein transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
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)

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_001271885.1NP_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)
    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_001271886.1NP_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)
    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.

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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