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Q6PD74 (AAGAB_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 88. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Alpha- and gamma-adaptin-binding protein p34
Gene names
Name:AAGAB
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length315 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May be involved in endocytic recycling of growth factor receptors such as EGFR. Ref.11

Subunit structure

Associated with AP-1 and AP-2 complexes. Ref.11

Subcellular location

Cytoplasmcytosol Ref.10 Ref.11.

Tissue specificity

Widely expressed, including in skin and keratinocytes, with highest levels in adrenal gland, rectum and thymus. Ref.10 Ref.11

Involvement in disease

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. Ref.10 Ref.11

Ontologies

Keywords
   Biological processProtein transport
Transport
   Cellular componentCytoplasm
   Coding sequence diversityPolymorphism
   DiseasePalmoplantar keratoderma
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processprotein transport

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentcytoplasm

Inferred from direct assay. Source: LIFEdb

cytosol

Inferred from electronic annotation. Source: UniProtKB-SubCell

nucleus

Inferred from direct assay. Source: HPA

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 315315Alpha- and gamma-adaptin-binding protein p34
PRO_0000058134

Amino acid modifications

Modified residue3101Phosphoserine Ref.5 Ref.7 Ref.8 Ref.9
Modified residue3111Phosphoserine Ref.5 Ref.7 Ref.8 Ref.9

Natural variations

Natural variant1321I → L. Ref.1 Ref.2 Ref.3
Corresponds to variant rs7173826 [ dbSNP | Ensembl ].
VAR_021533

Experimental info

Sequence conflict261I → T in CAB66649. Ref.2
Sequence conflict261I → T in CAG38571. Ref.3
Sequence conflict771V → A in CAG38571. Ref.3
Sequence conflict881Q → R in CAB66649. Ref.2
Sequence conflict881Q → R in CAG38571. Ref.3
Sequence conflict1311C → S in CAB66649. Ref.2
Sequence conflict1311C → S in CAG38571. Ref.3
Sequence conflict2651L → P in CAB66649. Ref.2
Sequence conflict2651L → P in CAG38571. Ref.3
Sequence conflict3131E → G in CAB66649. Ref.2
Sequence conflict3131E → G in CAG38571. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Q6PD74 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: C1C765B4F9717E0B

FASTA31534,594
        10         20         30         40         50         60 
MAAGVPCALV TSCSSVFSGD QLVQHILGTE DLIVEVTSND AVRFYPWTID NKYYSADINL 

        70         80         90        100        110        120 
CVVPNKFLVT AEIAESVQAF VVYFDSTQKS GLDSVSSWLP LAKAWLPEVM ILVCDRVSED 

       130        140        150        160        170        180 
GINRQKAQEW CIKHGFELVE LSPEELPEED DDFPESTGVK RIVQALNANV WSNVVMKNDR 

       190        200        210        220        230        240 
NQGFSLLNSL TGTNHSIGSA DPCHPEQPHL PAADSTESLS DHRGGASNTT DAQVDSIVDP 

       250        260        270        280        290        300 
MLDLDIQELA SLTTGGGDVE NFERLFSKLK EMKDKAATLP HEQRKVHAEK VAKAFWMAIG 

       310 
GDRDEIEGLS SDEEH 

« Hide

References

« Hide 'large scale' references
[1]"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. expand/collapse author list , 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], VARIANT LEU-132.
Tissue: Embryo.
[2]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT LEU-132.
Tissue: Fetal kidney.
[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], VARIANT LEU-132.
[4]"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].
Tissue: Cervix and Uterus.
[5]"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.
[6]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[7]"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.
[8]"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.
[9]"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].
[10]"Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer."
Giehl K.A., Eckstein G.N., Pasternack S.M., Praetzel-Wunder S., Ruzicka T., Lichtner P., Seidl K., Rogers M., Graf E., Langbein L., Braun-Falco M., Betz R.C., Strom T.M.
Am. J. Hum. Genet. 91:754-759(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN PPKP1A, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[11]"Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma."
Pohler E., Mamai O., Hirst J., Zamiri M., Horn H., Nomura T., Irvine A.D., Moran B., Wilson N.J., Smith F.J., Goh C.S., Sandilands A., Cole C., Barton G.J., Evans A.T., Shimizu H., Akiyama M., Suehiro M. expand/collapse author list , Konohana I., Shboul M., Teissier S., Boussofara L., Denguezli M., Saad A., Gribaa M., Dopping-Hepenstal P.J., McGrath J.A., Brown S.J., Goudie D.R., Reversade B., Munro C.S., McLean W.H.
Nat. Genet. 44:1272-1276(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN PPKP1A, FUNCTION, IDENTIFICATION IN AP-1 AND AP-2 COMPLEXES, SUBUNIT, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK021568 mRNA. Translation: BAB13845.1.
AL136715 mRNA. Translation: CAB66649.1.
CR533540 mRNA. Translation: CAG38571.1.
BC001975 mRNA. Translation: AAH01975.1.
BC047026 mRNA. Translation: AAH47026.1.
BC058886 mRNA. Translation: AAH58886.1.
RefSeqNP_001258814.1. NM_001271885.1.
NP_001258815.1. NM_001271886.1.
NP_078942.3. NM_024666.4.
UniGeneHs.254642.
Hs.602761.

3D structure databases

ProteinModelPortalQ6PD74.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122835. 3 interactions.
IntActQ6PD74. 2 interactions.
MINTMINT-1373784.
STRING9606.ENSP00000261880.

PTM databases

PhosphoSiteQ6PD74.

Polymorphism databases

DMDM62286981.

Proteomic databases

PaxDbQ6PD74.
PeptideAtlasQ6PD74.
PRIDEQ6PD74.

Protocols and materials databases

DNASU79719.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000261880; ENSP00000261880; ENSG00000103591.
GeneID79719.
KEGGhsa:79719.
UCSCuc002aqk.5. human.

Organism-specific databases

CTD79719.
GeneCardsGC15M067493.
HGNCHGNC:25662. AAGAB.
HPAHPA039371.
HPA040174.
MIM148600. phenotype.
614888. gene.
neXtProtNX_Q6PD74.
Orphanet79501. Punctate palmoplantar keratoderma type 1.
PharmGKBPA165478457.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG271587.
HOGENOMHOG000115322.
InParanoidQ6PD74.
OMAVMKNDRN.
OrthoDBEOG7DZ8PB.
PhylomeDBQ6PD74.
TreeFamTF328856.

Gene expression databases

ArrayExpressQ6PD74.
BgeeQ6PD74.
GenevestigatorQ6PD74.

Family and domain databases

Gene3D3.40.50.300. 1 hit.
InterProIPR019341. Alpha/Gamma-adaptin-bd_p34.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamPF10199. Adaptin_binding. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSAAGAB. human.
GeneWikiFLJ11506.
GenomeRNAi79719.
NextBio69069.
PROQ6PD74.
SOURCESearch...

Entry information

Entry nameAAGAB_HUMAN
AccessionPrimary (citable) accession number: Q6PD74
Secondary accession number(s): Q6FI86 expand/collapse secondary AC list , Q7Z5X9, Q9H0P1, Q9HAK0
Entry history
Integrated into UniProtKB/Swiss-Prot: March 29, 2005
Last sequence update: July 5, 2004
Last modified: April 16, 2014
This is version 88 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM