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

Gene ID: 79719, updated on 2-Nov-2024

Summary

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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; AllianceGenome:HGNC:25662
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
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Genomic context

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See AAGAB in Genome Data Viewer
Location:
15q23
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (67200667..67255198, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (65022578..65077114, complement)
RS_2024_09 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 ReSE screen-validated silencer GRCh37_chr15:67300958-67301136 Neighboring gene SMAD3 divergent transcript Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40591 Neighboring gene Sharpr-MPRA regulatory region 4683 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67322513-67323169 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 47 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67325941-67326548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67325333-67325940 Neighboring gene HNF4 motif-containing MPRA enhancer 189 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:67356188-67356958 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6573 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6574 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:67358498-67359266 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9620 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67381826-67382343 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67382344-67382860 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9621 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67386222-67386992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:67390571-67391072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9623 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67398175-67398874 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:67399127-67400326 Neighboring gene SMAD family member 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67412437-67413294 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9624 Neighboring gene FOXA motif-containing MPRA enhancer 105 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67438421-67439356 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67439357-67440291 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67440670-67441477 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:67442285-67443092 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40599 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40600 Neighboring gene SMAD3 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67459191-67459860 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:67459861-67460532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:67460533-67461202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9625 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9626 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9628 Neighboring gene ribosomal protein S24 pseudogene 16 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:67569773-67569933 Neighboring gene IQ motif containing H Neighboring gene VISTA enhancer hs358 Neighboring gene Sharpr-MPRA regulatory region 12968 Neighboring gene IQCH antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 13361 Neighboring gene uncharacterized LOC124903511 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:67794233-67794407 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9629 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6578 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9630 Neighboring gene chromosome 15 open reading frame 61

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. Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark. Gram SB, et al. Clin Genet, 2024 May. PMID 38311882
  2. Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. Giehl KA, et al. Am J Hum Genet, 2012 Oct 5. PMID 23000146, Free PMC Article
  3. Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. Pohler E, et al. Nat Genet, 2012 Nov. PMID 23064416, Free PMC Article
  4. Loss-of-function mutation in AAGAB in Chinese families with punctuate palmoplantar keratoderma. Li M, et al. Br J Dermatol, 2013 Jul. PMID 23448244
  5. Novel and recurrent AAGAB mutations: clinical variability and molecular consequences. Kiritsi D, et al. J Invest Dermatol, 2013 Oct. PMID 23563198

See all (49) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark.
    Title: Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark.
  2. AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer.
    Title: AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer.
  3. Study reports the clinical and genetic features of a series of 16 unrelated pedigrees with autosomal dominant punctate palmoplantar keratoderma due to heterozygous mutations, five novel (seven families) and four recurrent (nine families), in AAGAB .
    Title: Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB.
  4. In this work, however, we discovered that AP2 adaptor assembly is an ordered process controlled by alpha and gamma adaptin binding protein (AAGAB), an uncharacterized factor identified in our genome-wide genetic screen of clathrin-mediated endocytosis
    Title: AAGAB Controls AP2 Adaptor Assembly in Clathrin-Mediated Endocytosis.
  5. Identical AAGAB genotypes presented a very broad interfamilial and intrafamilial variability of phenotypes in punctate palmoplantar keratoderma type 1 (Buschke-Fischer-Brauer syndrome).
    Title: Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.
  6. we report two unrelated Japanese punctate palmoplantar keratoderma type 1 pedigrees harboring the novel AAGAB mutation c.191_194del-CAAA.
    Title: Two Japanese familial cases of punctate palmoplantar keratoderma caused by a novel AAGAB mutation, c.191_194delCAAA.
  7. Case Report: novel AAGAB mutation in punctate palmoplantar keratoderma type I.
    Title: Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate.
  8. results reveal one novel and two recurrent mutations in AAGAB providing further evidence of its role in the pathogenesis of palmoplantar keratoderma.
    Title: New and recurrent AAGAB mutations in punctate palmoplantar keratoderma.
  9. case Report: deletion mutation in AAGAB causing punctate palmoplantar keratoderma in Chinese family.
    Title: A novel 5-bp deletion mutation in AAGAB gene in a Chinese family with punctate palmoplantar keratoderma.
  10. This observation suggests either the existence of a CDH-associated gene in the vicinity of AAGAB, or a hitherto unrecognized role for p34 during skeletal development.
    Title: A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family.
Submit: New GeneRIF Correction See all GeneRIFs (18)

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

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

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

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

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Preferred Names
alpha- and gamma-adaptin-binding protein p34
Names
punctate palmoplantar keratoderma type I

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.

Genomic

  1. NG_033007.1 RefSeqGene

    Range
    5538..59532
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001271885.2 → NP_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:46 → 185
    Adaptin_binding; Alpha and gamma adaptin binding protein p34

  2. NM_001271886.2 → NP_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:46 → 185
    Adaptin_binding; Alpha and gamma adaptin binding protein p34

  3. NM_024666.5 → NP_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
    B4DG44, Q6FI86, Q6PD74, Q7Z5X9, Q9H0P1, Q9HAK0
    Related
    ENSP00000261880.5, ENST00000261880.10
    Conserved Domains (1) summary
    pfam10199
    Location:155 → 294
    Adaptin_binding; Alpha and gamma adaptin binding protein p34

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_000015.10 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024450053.2 → XP_024305821.1  alpha- and gamma-adaptin-binding protein p34 isoform X2

    Conserved Domains (1) summary
    pfam10199
    Location:155 → 180
    Adaptin_binding; Alpha and gamma adaptin binding protein p34

  2. XM_024450052.2 → XP_024305820.1  alpha- and gamma-adaptin-binding protein p34 isoform X1

    Conserved Domains (1) summary
    pfam10199
    Location:155 → 181
    Adaptin_binding; Alpha and gamma adaptin binding protein p34

RNA

  1. XR_007064489.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    65022578..65077114 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054378784.1 → XP_054234759.1  alpha- and gamma-adaptin-binding protein p34 isoform X2

  2. XM_054378783.1 → XP_054234758.1  alpha- and gamma-adaptin-binding protein p34 isoform X1

RNA

  1. XR_008489010.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6PD74.1 GenPept UniProtKB/Swiss-Prot:Q6PD74

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