AAGAB_HUMAN
ID AAGAB_HUMAN Reviewed; 315 AA.
AC Q6PD74; B4DG44; Q6FI86; Q7Z5X9; Q9H0P1; Q9HAK0;
DT 29-MAR-2005, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 141.
DE RecName: Full=Alpha- and gamma-adaptin-binding protein p34;
GN Name=AAGAB;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT LEU-132.
RC TISSUE=Fetal kidney;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP LEU-132.
RC TISSUE=Amygdala, and Embryo;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT LEU-132.
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Cervix, and Uterus;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-310 AND SER-311, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18691976; DOI=10.1016/j.molcel.2008.07.007;
RA Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R.,
RA Greff Z., Keri G., Stemmann O., Mann M.;
RT "Kinase-selective enrichment enables quantitative phosphoproteomics of the
RT kinome across the cell cycle.";
RL Mol. Cell 31:438-448(2008).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-310, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-310 AND SER-311, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-310 AND SER-311, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [11]
RP INVOLVEMENT IN PPKP1A, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=23000146; DOI=10.1016/j.ajhg.2012.08.024;
RA Giehl K.A., Eckstein G.N., Pasternack S.M., Praetzel-Wunder S., Ruzicka T.,
RA Lichtner P., Seidl K., Rogers M., Graf E., Langbein L., Braun-Falco M.,
RA Betz R.C., Strom T.M.;
RT "Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type
RT Buschke-Fischer-Brauer.";
RL Am. J. Hum. Genet. 91:754-759(2012).
RN [12]
RP INVOLVEMENT IN PPKP1A, FUNCTION, IDENTIFICATION IN AP-1 AND AP-2 COMPLEXES,
RP SUBUNIT, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=23064416; DOI=10.1038/ng.2444;
RA Pohler E., Mamai O., Hirst J., Zamiri M., Horn H., Nomura T., Irvine A.D.,
RA Moran B., Wilson N.J., Smith F.J., Goh C.S., Sandilands A., Cole C.,
RA Barton G.J., Evans A.T., Shimizu H., Akiyama M., Suehiro M., Konohana I.,
RA Shboul M., Teissier S., Boussofara L., Denguezli M., Saad A., Gribaa M.,
RA Dopping-Hepenstal P.J., McGrath J.A., Brown S.J., Goudie D.R.,
RA Reversade B., Munro C.S., McLean W.H.;
RT "Haploinsufficiency for AAGAB causes clinically heterogeneous forms of
RT punctate palmoplantar keratoderma.";
RL Nat. Genet. 44:1272-1276(2012).
CC -!- FUNCTION: May be involved in endocytic recycling of growth factor
CC receptors such as EGFR. {ECO:0000269|PubMed:23064416}.
CC -!- SUBUNIT: Associated with AP-1 and AP-2 complexes.
CC {ECO:0000269|PubMed:23064416}.
CC -!- INTERACTION:
CC Q6PD74; O43747-2: AP1G1; NbExp=4; IntAct=EBI-719906, EBI-10185819;
CC Q6PD74; Q96PC3: AP1S3; NbExp=3; IntAct=EBI-719906, EBI-3923129;
CC Q6PD74; Q96PC3-2: AP1S3; NbExp=3; IntAct=EBI-719906, EBI-12780485;
CC Q6PD74; O94973: AP2A2; NbExp=3; IntAct=EBI-719906, EBI-1642835;
CC Q6PD74; P53680: AP2S1; NbExp=8; IntAct=EBI-719906, EBI-297662;
CC Q6PD74; Q96ES5: HEATR1; NbExp=3; IntAct=EBI-719906, EBI-10285245;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:23000146,
CC ECO:0000269|PubMed:23064416}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6PD74-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6PD74-2; Sequence=VSP_054597;
CC -!- TISSUE SPECIFICITY: Widely expressed, including in skin and
CC keratinocytes, with highest levels in adrenal gland, rectum and thymus.
CC {ECO:0000269|PubMed:23000146, ECO:0000269|PubMed:23064416}.
CC -!- DISEASE: Keratoderma, palmoplantar, punctate 1A (PPKP1A) [MIM:148600]:
CC An autosomal dominant dermatological disorder characterized by multiple
CC hyperkeratotic, centrally indented, papules that develop in early
CC adolescence, or later, and are irregularly distributed on the palms and
CC soles (other palmoplantar keratoses have mostly diffuse
CC hyperkeratinization). In mechanically irritated areas, confluent
CC plaques can be found. Interfamilial and intrafamilial severity shows
CC broad variation. In some cases, PPKP1 is associated with the
CC development of early- and late-onset malignancies, including squamous
CC cell carcinoma. {ECO:0000269|PubMed:23000146,
CC ECO:0000269|PubMed:23064416}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
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DR EMBL; AL136715; CAB66649.1; -; mRNA.
DR EMBL; AK021568; BAB13845.1; -; mRNA.
DR EMBL; AK294402; BAG57655.1; -; mRNA.
DR EMBL; CR533540; CAG38571.1; -; mRNA.
DR EMBL; AC012568; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC110292; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC001975; AAH01975.1; -; mRNA.
DR EMBL; BC047026; AAH47026.1; -; mRNA.
DR EMBL; BC058886; AAH58886.1; -; mRNA.
DR CCDS; CCDS42050.1; -. [Q6PD74-1]
DR CCDS; CCDS61679.1; -. [Q6PD74-2]
DR RefSeq; NP_001258814.1; NM_001271885.1. [Q6PD74-2]
DR RefSeq; NP_001258815.1; NM_001271886.1. [Q6PD74-2]
DR RefSeq; NP_078942.3; NM_024666.4. [Q6PD74-1]
DR RefSeq; XP_011520322.1; XM_011522020.1. [Q6PD74-2]
DR AlphaFoldDB; Q6PD74; -.
DR SMR; Q6PD74; -.
DR BioGRID; 122835; 32.
DR IntAct; Q6PD74; 22.
DR STRING; 9606.ENSP00000261880; -.
DR GlyGen; Q6PD74; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q6PD74; -.
DR PhosphoSitePlus; Q6PD74; -.
DR BioMuta; AAGAB; -.
DR DMDM; 62286981; -.
DR EPD; Q6PD74; -.
DR jPOST; Q6PD74; -.
DR MassIVE; Q6PD74; -.
DR MaxQB; Q6PD74; -.
DR PaxDb; Q6PD74; -.
DR PeptideAtlas; Q6PD74; -.
DR PRIDE; Q6PD74; -.
DR ProteomicsDB; 4104; -.
DR ProteomicsDB; 67069; -. [Q6PD74-1]
DR Antibodypedia; 26235; 119 antibodies from 22 providers.
DR DNASU; 79719; -.
DR Ensembl; ENST00000261880.10; ENSP00000261880.5; ENSG00000103591.13. [Q6PD74-1]
DR Ensembl; ENST00000542650.5; ENSP00000440735.1; ENSG00000103591.13. [Q6PD74-2]
DR Ensembl; ENST00000561452.5; ENSP00000453263.1; ENSG00000103591.13. [Q6PD74-2]
DR GeneID; 79719; -.
DR KEGG; hsa:79719; -.
DR MANE-Select; ENST00000261880.10; ENSP00000261880.5; NM_024666.5; NP_078942.3.
DR UCSC; uc002aqk.6; human. [Q6PD74-1]
DR CTD; 79719; -.
DR DisGeNET; 79719; -.
DR GeneCards; AAGAB; -.
DR HGNC; HGNC:25662; AAGAB.
DR HPA; ENSG00000103591; Low tissue specificity.
DR MalaCards; AAGAB; -.
DR MIM; 148600; phenotype.
DR MIM; 614888; gene.
DR neXtProt; NX_Q6PD74; -.
DR OpenTargets; ENSG00000103591; -.
DR Orphanet; 79501; Punctate palmoplantar keratoderma type 1.
DR PharmGKB; PA165478457; -.
DR VEuPathDB; HostDB:ENSG00000103591; -.
DR eggNOG; KOG4273; Eukaryota.
DR GeneTree; ENSGT00390000007218; -.
DR HOGENOM; CLU_056826_0_0_1; -.
DR InParanoid; Q6PD74; -.
DR OMA; VTAFWKA; -.
DR OrthoDB; 1618204at2759; -.
DR PhylomeDB; Q6PD74; -.
DR TreeFam; TF328856; -.
DR PathwayCommons; Q6PD74; -.
DR SignaLink; Q6PD74; -.
DR BioGRID-ORCS; 79719; 42 hits in 1083 CRISPR screens.
DR ChiTaRS; AAGAB; human.
DR GeneWiki; FLJ11506; -.
DR GenomeRNAi; 79719; -.
DR Pharos; Q6PD74; Tbio.
DR PRO; PR:Q6PD74; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q6PD74; protein.
DR Bgee; ENSG00000103591; Expressed in islet of Langerhans and 195 other tissues.
DR ExpressionAtlas; Q6PD74; baseline and differential.
DR Genevisible; Q6PD74; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:LIFEdb.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0016607; C:nuclear speck; IDA:HPA.
DR GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
DR InterPro; IPR019341; Alpha/Gamma-adaptin-bd_p34.
DR PANTHER; PTHR14659; PTHR14659; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Palmoplantar keratoderma; Phosphoprotein;
KW Protein transport; Reference proteome; Transport.
FT CHAIN 1..315
FT /note="Alpha- and gamma-adaptin-binding protein p34"
FT /id="PRO_0000058134"
FT REGION 197..234
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 220..234
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 310
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18691976,
FT ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
FT ECO:0007744|PubMed:21406692"
FT MOD_RES 311
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18691976,
FT ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692"
FT VAR_SEQ 1..109
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_054597"
FT VARIANT 132
FT /note="I -> L (in dbSNP:rs7173826)"
FT /evidence="ECO:0000269|PubMed:11230166,
FT ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3"
FT /id="VAR_021533"
FT CONFLICT 26
FT /note="I -> T (in Ref. 1; CAB66649 and 3; CAG38571)"
FT /evidence="ECO:0000305"
FT CONFLICT 77
FT /note="V -> A (in Ref. 3; CAG38571)"
FT /evidence="ECO:0000305"
FT CONFLICT 88
FT /note="Q -> R (in Ref. 1; CAB66649 and 3; CAG38571)"
FT /evidence="ECO:0000305"
FT CONFLICT 131
FT /note="C -> S (in Ref. 1; CAB66649 and 3; CAG38571)"
FT /evidence="ECO:0000305"
FT CONFLICT 265
FT /note="L -> P (in Ref. 1; CAB66649 and 3; CAG38571)"
FT /evidence="ECO:0000305"
FT CONFLICT 313
FT /note="E -> G (in Ref. 1; CAB66649 and 3; CAG38571)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 315 AA; 34594 MW; C1C765B4F9717E0B CRC64;
MAAGVPCALV TSCSSVFSGD QLVQHILGTE DLIVEVTSND AVRFYPWTID NKYYSADINL
CVVPNKFLVT AEIAESVQAF VVYFDSTQKS GLDSVSSWLP LAKAWLPEVM ILVCDRVSED
GINRQKAQEW CIKHGFELVE LSPEELPEED DDFPESTGVK RIVQALNANV WSNVVMKNDR
NQGFSLLNSL TGTNHSIGSA DPCHPEQPHL PAADSTESLS DHRGGASNTT DAQVDSIVDP
MLDLDIQELA SLTTGGGDVE NFERLFSKLK EMKDKAATLP HEQRKVHAEK VAKAFWMAIG
GDRDEIEGLS SDEEH
