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Q6PD74

- AAGAB_HUMAN

UniProt

Q6PD74 - AAGAB_HUMAN

Protein

Alpha- and gamma-adaptin-binding protein p34

Gene

AAGAB

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 93 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    Functioni

    May be involved in endocytic recycling of growth factor receptors such as EGFR.1 Publication

    GO - Biological processi

    1. protein transport Source: UniProtKB-KW

    Keywords - Biological processi

    Protein transport, Transport

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Alpha- and gamma-adaptin-binding protein p34
    Gene namesi
    Name:AAGAB
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:25662. AAGAB.

    Subcellular locationi

    Cytoplasmcytosol 2 Publications

    GO - Cellular componenti

    1. cytoplasm Source: LIFEdb
    2. cytosol Source: UniProtKB-SubCell
    3. nucleus Source: HPA

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Keratoderma, palmoplantar, punctate 1A (PPKP1A) [MIM:148600]: An autosomal dominant dermatological disorder characterized by multiple hyperkeratotic, centrally indented, papules that develop in early adolescence, or later, and are irregularly distributed on the palms and soles (other palmoplantar keratoses have mostly diffuse hyperkeratinization). In mechanically irritated areas, confluent plaques can be found. Interfamilial and intrafamilial severity shows broad variation. In some cases, PPKP1 is associated with the development of early- and late-onset malignancies, including squamous cell carcinoma.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Palmoplantar keratoderma

    Organism-specific databases

    MIMi148600. phenotype.
    Orphaneti79501. Punctate palmoplantar keratoderma type 1.
    PharmGKBiPA165478457.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 315315Alpha- and gamma-adaptin-binding protein p34PRO_0000058134Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei310 – 3101Phosphoserine4 Publications
    Modified residuei311 – 3111Phosphoserine4 Publications

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ6PD74.
    PaxDbiQ6PD74.
    PeptideAtlasiQ6PD74.
    PRIDEiQ6PD74.

    PTM databases

    PhosphoSiteiQ6PD74.

    Expressioni

    Tissue specificityi

    Widely expressed, including in skin and keratinocytes, with highest levels in adrenal gland, rectum and thymus.2 Publications

    Gene expression databases

    ArrayExpressiQ6PD74.
    BgeeiQ6PD74.
    GenevestigatoriQ6PD74.

    Organism-specific databases

    HPAiHPA039371.
    HPA040174.

    Interactioni

    Subunit structurei

    Associated with AP-1 and AP-2 complexes.1 Publication

    Protein-protein interaction databases

    BioGridi122835. 3 interactions.
    IntActiQ6PD74. 2 interactions.
    MINTiMINT-1373784.
    STRINGi9606.ENSP00000261880.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6PD74.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Phylogenomic databases

    eggNOGiNOG271587.
    HOGENOMiHOG000115322.
    InParanoidiQ6PD74.
    OMAiVMKNDRN.
    OrthoDBiEOG7DZ8PB.
    PhylomeDBiQ6PD74.
    TreeFamiTF328856.

    Family and domain databases

    Gene3Di3.40.50.300. 1 hit.
    InterProiIPR019341. Alpha/Gamma-adaptin-bd_p34.
    IPR027417. P-loop_NTPase.
    [Graphical view]
    PfamiPF10199. Adaptin_binding. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q6PD74-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAAGVPCALV TSCSSVFSGD QLVQHILGTE DLIVEVTSND AVRFYPWTID    50
    NKYYSADINL CVVPNKFLVT AEIAESVQAF VVYFDSTQKS GLDSVSSWLP 100
    LAKAWLPEVM ILVCDRVSED GINRQKAQEW CIKHGFELVE LSPEELPEED 150
    DDFPESTGVK RIVQALNANV WSNVVMKNDR NQGFSLLNSL TGTNHSIGSA 200
    DPCHPEQPHL PAADSTESLS DHRGGASNTT DAQVDSIVDP MLDLDIQELA 250
    SLTTGGGDVE NFERLFSKLK EMKDKAATLP HEQRKVHAEK VAKAFWMAIG 300
    GDRDEIEGLS SDEEH 315
    Length:315
    Mass (Da):34,594
    Last modified:July 5, 2004 - v1
    Checksum:iC1C765B4F9717E0B
    GO
    Isoform 2 (identifier: Q6PD74-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-109: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:206
    Mass (Da):22,719
    Checksum:i28477F7B5DDAB3A1
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti26 – 261I → T in CAB66649. (PubMed:11230166)Curated
    Sequence conflicti26 – 261I → T in CAG38571. 1 PublicationCurated
    Sequence conflicti77 – 771V → A in CAG38571. 1 PublicationCurated
    Sequence conflicti88 – 881Q → R in CAB66649. (PubMed:11230166)Curated
    Sequence conflicti88 – 881Q → R in CAG38571. 1 PublicationCurated
    Sequence conflicti131 – 1311C → S in CAB66649. (PubMed:11230166)Curated
    Sequence conflicti131 – 1311C → S in CAG38571. 1 PublicationCurated
    Sequence conflicti265 – 2651L → P in CAB66649. (PubMed:11230166)Curated
    Sequence conflicti265 – 2651L → P in CAG38571. 1 PublicationCurated
    Sequence conflicti313 – 3131E → G in CAB66649. (PubMed:11230166)Curated
    Sequence conflicti313 – 3131E → G in CAG38571. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti132 – 1321I → L.3 Publications
    Corresponds to variant rs7173826 [ dbSNP | Ensembl ].
    VAR_021533

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 109109Missing in isoform 2. 1 PublicationVSP_054597Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL136715 mRNA. Translation: CAB66649.1.
    AK021568 mRNA. Translation: BAB13845.1.
    AK294402 mRNA. Translation: BAG57655.1.
    CR533540 mRNA. Translation: CAG38571.1.
    AC012568 Genomic DNA. No translation available.
    AC110292 Genomic DNA. No translation available.
    BC001975 mRNA. Translation: AAH01975.1.
    BC047026 mRNA. Translation: AAH47026.1.
    BC058886 mRNA. Translation: AAH58886.1.
    CCDSiCCDS42050.1. [Q6PD74-1]
    CCDS61679.1. [Q6PD74-2]
    RefSeqiNP_001258814.1. NM_001271885.1. [Q6PD74-2]
    NP_001258815.1. NM_001271886.1. [Q6PD74-2]
    NP_078942.3. NM_024666.4. [Q6PD74-1]
    UniGeneiHs.254642.
    Hs.602761.

    Genome annotation databases

    EnsembliENST00000261880; ENSP00000261880; ENSG00000103591. [Q6PD74-1]
    ENST00000542650; ENSP00000440735; ENSG00000103591. [Q6PD74-2]
    ENST00000561452; ENSP00000453263; ENSG00000103591. [Q6PD74-2]
    GeneIDi79719.
    KEGGihsa:79719.
    UCSCiuc002aqk.5. human. [Q6PD74-1]

    Polymorphism databases

    DMDMi62286981.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL136715 mRNA. Translation: CAB66649.1 .
    AK021568 mRNA. Translation: BAB13845.1 .
    AK294402 mRNA. Translation: BAG57655.1 .
    CR533540 mRNA. Translation: CAG38571.1 .
    AC012568 Genomic DNA. No translation available.
    AC110292 Genomic DNA. No translation available.
    BC001975 mRNA. Translation: AAH01975.1 .
    BC047026 mRNA. Translation: AAH47026.1 .
    BC058886 mRNA. Translation: AAH58886.1 .
    CCDSi CCDS42050.1. [Q6PD74-1 ]
    CCDS61679.1. [Q6PD74-2 ]
    RefSeqi NP_001258814.1. NM_001271885.1. [Q6PD74-2 ]
    NP_001258815.1. NM_001271886.1. [Q6PD74-2 ]
    NP_078942.3. NM_024666.4. [Q6PD74-1 ]
    UniGenei Hs.254642.
    Hs.602761.

    3D structure databases

    ProteinModelPortali Q6PD74.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122835. 3 interactions.
    IntActi Q6PD74. 2 interactions.
    MINTi MINT-1373784.
    STRINGi 9606.ENSP00000261880.

    PTM databases

    PhosphoSitei Q6PD74.

    Polymorphism databases

    DMDMi 62286981.

    Proteomic databases

    MaxQBi Q6PD74.
    PaxDbi Q6PD74.
    PeptideAtlasi Q6PD74.
    PRIDEi Q6PD74.

    Protocols and materials databases

    DNASUi 79719.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000261880 ; ENSP00000261880 ; ENSG00000103591 . [Q6PD74-1 ]
    ENST00000542650 ; ENSP00000440735 ; ENSG00000103591 . [Q6PD74-2 ]
    ENST00000561452 ; ENSP00000453263 ; ENSG00000103591 . [Q6PD74-2 ]
    GeneIDi 79719.
    KEGGi hsa:79719.
    UCSCi uc002aqk.5. human. [Q6PD74-1 ]

    Organism-specific databases

    CTDi 79719.
    GeneCardsi GC15M067493.
    HGNCi HGNC:25662. AAGAB.
    HPAi HPA039371.
    HPA040174.
    MIMi 148600. phenotype.
    614888. gene.
    neXtProti NX_Q6PD74.
    Orphaneti 79501. Punctate palmoplantar keratoderma type 1.
    PharmGKBi PA165478457.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG271587.
    HOGENOMi HOG000115322.
    InParanoidi Q6PD74.
    OMAi VMKNDRN.
    OrthoDBi EOG7DZ8PB.
    PhylomeDBi Q6PD74.
    TreeFami TF328856.

    Miscellaneous databases

    ChiTaRSi AAGAB. human.
    GeneWikii FLJ11506.
    GenomeRNAii 79719.
    NextBioi 35471658.
    PROi Q6PD74.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q6PD74.
    Bgeei Q6PD74.
    Genevestigatori Q6PD74.

    Family and domain databases

    Gene3Di 3.40.50.300. 1 hit.
    InterProi IPR019341. Alpha/Gamma-adaptin-bd_p34.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    Pfami PF10199. Adaptin_binding. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT LEU-132.
      Tissue: Fetal kidney.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT LEU-132.
      Tissue: Amygdala and Embryo.
    3. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT LEU-132.
    4. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Cervix and Uterus.
    6. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
      Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-310 AND SER-311, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-310 AND SER-311, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    9. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-310 AND SER-311, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-310 AND SER-311, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. Cited for: INVOLVEMENT IN PPKP1A, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    12. Cited for: INVOLVEMENT IN PPKP1A, FUNCTION, IDENTIFICATION IN AP-1 AND AP-2 COMPLEXES, SUBUNIT, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiAAGAB_HUMAN
    AccessioniPrimary (citable) accession number: Q6PD74
    Secondary accession number(s): B4DG44
    , Q6FI86, Q7Z5X9, Q9H0P1, Q9HAK0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 29, 2005
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 93 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3