Q6PD74 (AAGAB_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Alpha- and gamma-adaptin-binding protein p34

Gene names

Name:

AAGAB

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	315 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Cytoplasm › cytosol 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 process	Protein transport Transport
Cellular component	Cytoplasm
Coding sequence diversity	Polymorphism
Disease	Palmoplantar keratoderma
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	protein transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	cytoplasm Inferred from direct assay. Source: LIFEdb cytosol Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 315	315	Alpha- and gamma-adaptin-binding protein p34		PRO_0000058134
Amino acid modifications
	Modified residue	310	1	Phosphoserine Ref.5 Ref.7 Ref.8 Ref.9
	Modified residue	311	1	Phosphoserine Ref.5 Ref.7 Ref.8 Ref.9
Natural variations
	Natural variant	132	1	I → L. Ref.1 Ref.2 Ref.3 Corresponds to variant rs7173826 [ dbSNP | Ensembl ].		VAR_021533
Experimental info
	Sequence conflict	26	1	I → T in CAB66649. Ref.2
	Sequence conflict	26	1	I → T in CAG38571. Ref.3
	Sequence conflict	77	1	V → A in CAG38571. Ref.3
	Sequence conflict	88	1	Q → R in CAB66649. Ref.2
	Sequence conflict	88	1	Q → R in CAG38571. Ref.3
	Sequence conflict	131	1	C → S in CAB66649. Ref.2
	Sequence conflict	131	1	C → S in CAG38571. Ref.3
	Sequence conflict	265	1	L → P in CAB66649. Ref.2
	Sequence conflict	265	1	L → P in CAG38571. Ref.3
	Sequence conflict	313	1	E → G in CAB66649. Ref.2
	Sequence conflict	313	1	E → G in CAG38571. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q6PD74 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: C1C765B4F9717E0B	FASTA	315	34,594
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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, MASS SPECTROMETRY. 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, MASS SPECTROMETRY. 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, MASS SPECTROMETRY. 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, MASS SPECTROMETRY.
[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. , 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.
IPI	IPI00100193.
RefSeq	NP_001258814.1. NM_001271885.1. NP_001258815.1. NM_001271886.1. NP_078942.3. NM_024666.4.
UniGene	Hs.254642.
3D structure databases
ProteinModelPortal	Q6PD74.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q6PD74. 2 interactions.
MINT	MINT-1373784.
STRING	9606.ENSP00000261880.
PTM databases
PhosphoSite	Q6PD74.
Polymorphism databases
DMDM	62286981.
Proteomic databases
PaxDb	Q6PD74.
PeptideAtlas	Q6PD74.
PRIDE	Q6PD74.
Protocols and materials databases
DNASU	79719.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000261880; ENSP00000261880; ENSG00000103591.
GeneID	79719.
KEGG	hsa:79719.
UCSC	uc002aqk.4. human.
Organism-specific databases
CTD	79719.
GeneCards	GC15M067493.
HGNC	HGNC:25662. AAGAB.
HPA	HPA039371. HPA040174.
MIM	148600. phenotype. 614888. gene.
neXtProt	NX_Q6PD74.
PharmGKB	PA165478457.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG271587.
HOGENOM	HOG000115322.
InParanoid	Q6PD74.
OMA	VMKNDRN.
OrthoDB	EOG4QFWDP.
PhylomeDB	Q6PD74.
Gene expression databases
ArrayExpress	Q6PD74.
Bgee	Q6PD74.
Genevestigator	Q6PD74.
GermOnline	ENSG00000103591. Homo sapiens.
Family and domain databases
InterPro	IPR019341. Alpha/Gamma-adaptin-bd_p34. [Graphical view]
Pfam	PF10199. Adaptin_binding. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	AAGAB. human.
GenomeRNAi	79719.
NextBio	69069.
SOURCE	Search...

Entry information

Entry name

AAGAB_HUMAN

Accession

Primary (citable) accession number: Q6PD74
Secondary accession number(s): Q6FI86 , Q7Z5X9, Q9H0P1, Q9HAK0

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 29, 2005
Last sequence update:	July 5, 2004
Last modified:	May 1, 2013
This is version 79 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.