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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
    mouse all
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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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    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
      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

    Gene LinkOut

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

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