AP5B1_HUMAN
ID AP5B1_HUMAN Reviewed; 878 AA.
AC Q2VPB7; A1L0S6; H6WUK2; Q0D2Q2; Q8N3J7; Q8WYH6;
DT 08-MAR-2011, integrated into UniProtKB/Swiss-Prot.
DT 25-JAN-2012, sequence version 4.
DT 03-AUG-2022, entry version 108.
DE RecName: Full=AP-5 complex subunit beta-1;
DE AltName: Full=Adaptor-related protein complex 5 beta subunit;
DE Short=Beta5;
GN Name=AP5B1; ORFNames=PP1030;
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 [MRNA], FUNCTION IN ENDOSOME TRANSPORT, IDENTIFICATION
RP AS PART OF AP-5, AND INTERACTION WITH AP5M1 AND AP5S1.
RX PubMed=22022230; DOI=10.1371/journal.pbio.1001170;
RA Hirst J., Barlow L.D., Francisco G.C., Sahlender D.A., Seaman M.N.,
RA Dacks J.B., Robinson M.S.;
RT "The fifth adaptor protein complex.";
RL PLoS Biol. 9:E1001170-E1001170(2011).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 157-878.
RC TISSUE=Brain;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 217-878.
RX PubMed=15498874; DOI=10.1073/pnas.0404089101;
RA Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X.,
RA Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.,
RA Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.;
RT "Large-scale cDNA transfection screening for genes related to cancer
RT development and progression.";
RL Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 369-821.
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [7]
RP INTERACTION WITH AP5S1; AP5Z1; SPG11 AND ZFYVE26.
RX PubMed=20613862; DOI=10.1371/journal.pbio.1000408;
RA Slabicki M., Theis M., Krastev D.B., Samsonov S., Mundwiller E.,
RA Junqueira M., Paszkowski-Rogacz M., Teyra J., Heninger A.K., Poser I.,
RA Prieur F., Truchetto J., Confavreux C., Marelli C., Durr A.,
RA Camdessanche J.P., Brice A., Shevchenko A., Pisabarro M.T., Stevanin G.,
RA Buchholz F.;
RT "A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene
RT associated with hereditary spastic paraplegia.";
RL PLoS Biol. 8:E1000408-E1000408(2010).
CC -!- FUNCTION: As part of AP-5, a probable fifth adaptor protein complex it
CC may be involved in endosomal transport. {ECO:0000269|PubMed:22022230}.
CC -!- SUBUNIT: Probably part of the adaptor protein complex 5 (AP-5), a
CC tetramer composed of AP5B1, AP5M1, AP5S1 and AP5Z1. Interacts with
CC ZFYVE26 and SPG11. {ECO:0000269|PubMed:20613862,
CC ECO:0000269|PubMed:22022230}.
CC -!- INTERACTION:
CC Q2VPB7; Q9H0R1-1: AP5M1; NbExp=2; IntAct=EBI-5917279, EBI-15949594;
CC Q2VPB7; Q13554: CAMK2B; NbExp=3; IntAct=EBI-5917279, EBI-1058722;
CC Q2VPB7; Q9GZT8: NIF3L1; NbExp=3; IntAct=EBI-5917279, EBI-740897;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAG22468.1; Type=Miscellaneous discrepancy; Note=Sequencing errors.; Evidence={ECO:0000305};
CC Sequence=AAI09110.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAI09111.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAI26906.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAI28057.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=EAW74438.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; JQ313135; AFA36464.1; -; mRNA.
DR EMBL; AP001266; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471076; EAW74438.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC004895; AAH04895.2; -; mRNA.
DR EMBL; BC109109; AAI09110.2; ALT_INIT; mRNA.
DR EMBL; BC109110; AAI09111.2; ALT_INIT; mRNA.
DR EMBL; BC126905; AAI26906.1; ALT_INIT; mRNA.
DR EMBL; BC128056; AAI28057.1; ALT_INIT; mRNA.
DR EMBL; AL834269; CAD38944.1; -; mRNA.
DR EMBL; AF193040; AAG22468.1; ALT_SEQ; mRNA.
DR CCDS; CCDS58146.1; -.
DR RefSeq; NP_612377.4; NM_138368.4.
DR AlphaFoldDB; Q2VPB7; -.
DR BioGRID; 124791; 43.
DR ComplexPortal; CPX-5181; AP-5 Adaptor complex.
DR CORUM; Q2VPB7; -.
DR DIP; DIP-60181N; -.
DR IntAct; Q2VPB7; 11.
DR STRING; 9606.ENSP00000454303; -.
DR iPTMnet; Q2VPB7; -.
DR PhosphoSitePlus; Q2VPB7; -.
DR BioMuta; AP5B1; -.
DR DMDM; 374095511; -.
DR EPD; Q2VPB7; -.
DR jPOST; Q2VPB7; -.
DR MassIVE; Q2VPB7; -.
DR MaxQB; Q2VPB7; -.
DR PaxDb; Q2VPB7; -.
DR PeptideAtlas; Q2VPB7; -.
DR PRIDE; Q2VPB7; -.
DR ProteomicsDB; 61517; -.
DR Antibodypedia; 70575; 10 antibodies from 6 providers.
DR DNASU; 91056; -.
DR Ensembl; ENST00000532090.3; ENSP00000454303.1; ENSG00000254470.3.
DR GeneID; 91056; -.
DR KEGG; hsa:91056; -.
DR MANE-Select; ENST00000532090.3; ENSP00000454303.1; NM_138368.5; NP_612377.4.
DR UCSC; uc031qbm.2; human.
DR CTD; 91056; -.
DR DisGeNET; 91056; -.
DR GeneCards; AP5B1; -.
DR HGNC; HGNC:25104; AP5B1.
DR HPA; ENSG00000254470; Tissue enriched (bone).
DR MIM; 614367; gene.
DR neXtProt; NX_Q2VPB7; -.
DR OpenTargets; ENSG00000254470; -.
DR VEuPathDB; HostDB:ENSG00000254470; -.
DR eggNOG; ENOG502QVTX; Eukaryota.
DR GeneTree; ENSGT00530000064721; -.
DR HOGENOM; CLU_014176_0_0_1; -.
DR InParanoid; Q2VPB7; -.
DR OMA; VWCPLGP; -.
DR OrthoDB; 747742at2759; -.
DR PhylomeDB; Q2VPB7; -.
DR TreeFam; TF332158; -.
DR PathwayCommons; Q2VPB7; -.
DR SignaLink; Q2VPB7; -.
DR BioGRID-ORCS; 91056; 14 hits in 1075 CRISPR screens.
DR ChiTaRS; AP5B1; human.
DR GenomeRNAi; 91056; -.
DR Pharos; Q2VPB7; Tdark.
DR PRO; PR:Q2VPB7; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q2VPB7; protein.
DR Bgee; ENSG00000254470; Expressed in monocyte and 113 other tissues.
DR Genevisible; Q2VPB7; HS.
DR GO; GO:0044599; C:AP-5 adaptor complex; IC:ComplexPortal.
DR GO; GO:0030119; C:AP-type membrane coat adaptor complex; IDA:UniProtKB.
DR GO; GO:0005770; C:late endosome; IC:ComplexPortal.
DR GO; GO:0005765; C:lysosomal membrane; HDA:UniProtKB.
DR GO; GO:0016197; P:endosomal transport; IMP:UniProtKB.
DR GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
DR GO; GO:0016192; P:vesicle-mediated transport; IC:ComplexPortal.
DR InterPro; IPR038741; AP5B1.
DR PANTHER; PTHR34033; PTHR34033; 2.
PE 1: Evidence at protein level;
KW Protein transport; Reference proteome; Transport.
FT CHAIN 1..878
FT /note="AP-5 complex subunit beta-1"
FT /id="PRO_0000405404"
FT REGION 234..260
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 529
FT /note="S -> P (in Ref. 6; CAD38944)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 878 AA; 93949 MW; B1E8A2BBFE45872B CRC64;
MGPLSRDAWA QRLGAFRASP SAFMAGPEGE DLGRDLLSDL RSEKLSEQTK VSLLALSMEY
PAQLWPDASA AEVAATSLLD TLVLLPPRPS ALRRPLLLAA TTALAAGGAL GPTSGASCRL
LPLLLGLAAG SDLGRGFVPA SEQRPLQATA CECLRELESC KPGLLGGSLG LLRGLLGQEG
PVQPLSLLLA LALRNTLVLQ SRVGAGLGGL LTDKVSPTGG GPWDWTLVEE GDGRLQPQAP
SWPAAEEGEG ERSLTAREHS PEEARELRAA VIQLLDTSYL LTPVAQAQLL WLLGWALRGL
QGQPPALFKP QLVRLLGTAQ LTLLHAMLAL KAAFGEALFT AQDEALLLRR LTLAAQHPAL
PPPTHLFYLH CVLSFPENWP LGPEGEEAAP LLLGPQLCRG LLPSLLHDPM ALLARLHLLC
LLCAEEEEEE KGQLPSPRHY LEELLAGLRQ RAALDGGPRA LATLCFQASY LVACCLAGQP
TVLTPLIHGL AQLYQARPML APHFVDLLDQ VDSELREPLK VVLRQVVVSR PGRDEALCWH
LQMLAKVADG DAQSATLNFL QAAAAHCTNW DLQQGLLRVC RALLRAGVRG GLVDLLQVLA
RQLEDPDGRD HARLYYILLA HLAAPKLGVA LGPSLAAPAL ASSLVAENQG FVAALMVQEA
PALVRLSLGS HRVKGPLPVL KLQPEALEPI YSLELRFRVE GQLYAPLEAV HVPCLCPGRP
ARPLLLPLQP RCPAPARLDV HALYTTSTGL TCHAHLPPLF VNFADLFLPF PQPPEGAGLG
FFEELWDSCL PEGAESRVWC PLGPQGLEGL VSRHLEPFVV VAQPPTSYCV AIHLPPDSKL
LLRLEAALAD GVPVALRTDD WAVLPLAGDY LRGLAAAV