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Q6PD74

- AAGAB_HUMAN

UniProt

Q6PD74 - AAGAB_HUMAN

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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

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
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications

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 p34
PRO_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.

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

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.
VSP_054597Add
BLAST

Sequence conflict

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

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.
ENST00000542650; ENSP00000440735; ENSG00000103591.
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...

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 .
ENST00000542650 ; ENSP00000440735 ; ENSG00000103591 .
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 92 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

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