AP5M1_HUMAN
ID AP5M1_HUMAN Reviewed; 490 AA.
AC Q9H0R1; O95354; Q6ZMD7; Q96DX3; Q9NVC5;
DT 03-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 03-OCT-2003, sequence version 2.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=AP-5 complex subunit mu-1;
DE AltName: Full=Adaptor-related protein complex 5 subunit mu-1;
DE Short=Mu5;
DE AltName: Full=Mu-2-related death-inducing protein;
DE Short=MuD;
DE AltName: Full=Putative HIV-1 infection-related protein;
GN Name=AP5M1; Synonyms=C14orf108, MUDENG;
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] (ISOFORM 1), FUNCTION, AND TISSUE SPECIFICITY.
RX PubMed=18395520; DOI=10.1016/j.bbrc.2008.03.139;
RA Lee M.-R., Shin J.N., Moon A.R., Park S.-Y., Hong G., Lee M.-J., Yun C.-W.,
RA Seol D.-W., Piya S., Bae J., Oh J.-W., Kim T.-H.;
RT "A novel protein, MUDENG, induces cell death in cytotoxic T cells.";
RL Biochem. Biophys. Res. Commun. 370:504-508(2008).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Fetal brain;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Hepatoma, and Teratocarcinoma;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Skin;
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 [MRNA] OF 204-332 (ISOFORM 1).
RA Li F.;
RT "HIV-1 infection induced gene expression.";
RL Submitted (SEP-1998) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP FUNCTION IN ENDOSOME TRANSPORT, IDENTIFICATION AS PART OF AP-5, SUBCELLULAR
RP LOCATION, AND INTERACTION WITH AP5B1 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).
CC -!- FUNCTION: As part of AP-5, a probable fifth adaptor protein complex it
CC may be involved in endosomal transport. According to PubMed:18395520,
CC it may play a role in cell death. {ECO:0000269|PubMed:18395520,
CC 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.
CC -!- INTERACTION:
CC Q9H0R1-1; Q2VPB7: AP5B1; NbExp=2; IntAct=EBI-15949594, EBI-5917279;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:22022230}.
CC Late endosome membrane {ECO:0000305|PubMed:22022230}; Peripheral
CC membrane protein {ECO:0000305|PubMed:22022230}; Cytoplasmic side
CC {ECO:0000305|PubMed:22022230}. Lysosome membrane
CC {ECO:0000305|PubMed:22022230}; Peripheral membrane protein
CC {ECO:0000305|PubMed:22022230}; Cytoplasmic side
CC {ECO:0000305|PubMed:22022230}. Note=May cycle on and off membranes.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9H0R1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H0R1-2; Sequence=VSP_008407, VSP_008408;
CC -!- TISSUE SPECIFICITY: Expressed in various tumor cell lines including
CC Jurkat, Hep-G2 and HeLa. {ECO:0000269|PubMed:18395520}.
CC -!- MISCELLANEOUS: [Isoform 2]: May be due to an intron retention.
CC {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the adaptor complexes medium subunit family.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAD18791.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAD18791.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AL136685; CAB66620.1; -; mRNA.
DR EMBL; AK001675; BAA91828.1; -; mRNA.
DR EMBL; AK172824; BAD18791.1; ALT_SEQ; mRNA.
DR EMBL; BC013174; AAH13174.1; -; mRNA.
DR EMBL; AF094583; AAC78130.1; -; mRNA.
DR CCDS; CCDS9729.1; -. [Q9H0R1-1]
DR RefSeq; NP_060699.3; NM_018229.3. [Q9H0R1-1]
DR AlphaFoldDB; Q9H0R1; -.
DR BioGRID; 120863; 11.
DR ComplexPortal; CPX-5181; AP-5 Adaptor complex.
DR CORUM; Q9H0R1; -.
DR DIP; DIP-60180N; -.
DR IntAct; Q9H0R1; 6.
DR STRING; 9606.ENSP00000261558; -.
DR iPTMnet; Q9H0R1; -.
DR PhosphoSitePlus; Q9H0R1; -.
DR BioMuta; AP5M1; -.
DR DMDM; 37537844; -.
DR EPD; Q9H0R1; -.
DR jPOST; Q9H0R1; -.
DR MassIVE; Q9H0R1; -.
DR MaxQB; Q9H0R1; -.
DR PaxDb; Q9H0R1; -.
DR PeptideAtlas; Q9H0R1; -.
DR PRIDE; Q9H0R1; -.
DR ProteomicsDB; 80312; -. [Q9H0R1-1]
DR ProteomicsDB; 80313; -. [Q9H0R1-2]
DR Antibodypedia; 68208; 58 antibodies from 17 providers.
DR DNASU; 55745; -.
DR Ensembl; ENST00000261558.8; ENSP00000261558.3; ENSG00000053770.12. [Q9H0R1-1]
DR GeneID; 55745; -.
DR KEGG; hsa:55745; -.
DR MANE-Select; ENST00000261558.8; ENSP00000261558.3; NM_018229.4; NP_060699.3.
DR UCSC; uc001xcv.4; human. [Q9H0R1-1]
DR CTD; 55745; -.
DR DisGeNET; 55745; -.
DR GeneCards; AP5M1; -.
DR HGNC; HGNC:20192; AP5M1.
DR HPA; ENSG00000053770; Low tissue specificity.
DR MIM; 614368; gene.
DR neXtProt; NX_Q9H0R1; -.
DR OpenTargets; ENSG00000053770; -.
DR PharmGKB; PA164723216; -.
DR VEuPathDB; HostDB:ENSG00000053770; -.
DR eggNOG; KOG0937; Eukaryota.
DR GeneTree; ENSGT00390000006191; -.
DR InParanoid; Q9H0R1; -.
DR OMA; FFNRNQM; -.
DR OrthoDB; 1481944at2759; -.
DR PhylomeDB; Q9H0R1; -.
DR TreeFam; TF331963; -.
DR PathwayCommons; Q9H0R1; -.
DR SignaLink; Q9H0R1; -.
DR BioGRID-ORCS; 55745; 1 hit in 1075 CRISPR screens.
DR ChiTaRS; AP5M1; human.
DR GenomeRNAi; 55745; -.
DR Pharos; Q9H0R1; Tbio.
DR PRO; PR:Q9H0R1; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q9H0R1; protein.
DR Bgee; ENSG00000053770; Expressed in jejunal mucosa and 201 other tissues.
DR ExpressionAtlas; Q9H0R1; baseline and differential.
DR Genevisible; Q9H0R1; 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:0005829; C:cytosol; IDA:UniProtKB.
DR GO; GO:0005770; C:late endosome; IDA:UniProtKB.
DR GO; GO:0031902; C:late endosome membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005765; C:lysosomal membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005764; C:lysosome; IDA:UniProtKB.
DR GO; GO:0016020; C:membrane; IDA: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; IPR036168; AP2_Mu_C_sf.
DR InterPro; IPR039591; AP5M1.
DR InterPro; IPR028565; MHD.
DR PANTHER; PTHR16082; PTHR16082; 1.
DR Pfam; PF00928; Adap_comp_sub; 1.
DR SUPFAM; SSF49447; SSF49447; 1.
DR PROSITE; PS51072; MHD; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Endosome; Lysosome; Membrane;
KW Protein transport; Reference proteome; Transport.
FT CHAIN 1..490
FT /note="AP-5 complex subunit mu-1"
FT /id="PRO_0000193795"
FT DOMAIN 206..476
FT /note="MHD"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00404"
FT VAR_SEQ 241..284
FT /note="CDLEGIMPNVTISLSLPTNGSPLQDILVHPCVTSLDSAILTSSS -> VRFF
FT SGTCFIVLFNIWRKVKFASCILNNIFYFHLKQQFLNGRVM (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_008407"
FT VAR_SEQ 285..490
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_008408"
FT VARIANT 226
FT /note="G -> R (in dbSNP:rs10137359)"
FT /id="VAR_055484"
FT VARIANT 379
FT /note="E -> D (in dbSNP:rs10140245)"
FT /id="VAR_055485"
FT CONFLICT 319
FT /note="V -> A (in Ref. 3; CAB66620)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 490 AA; 54767 MW; F8B2FE622A2B8BD9 CRC64;
MAQRAVWLIS HEPGTPLCGT VRFSRRYPTV EKRARVFNGA SYVPVPEDGP FLKALLFELR
LLDDDKDFVE SRDSCSRINK TSIYGLLIGG EELWPVVAFL KNDMIYACVP LVEQTLSPRP
PLISVSGVSQ GFEFLFGIQD FLYSGQKNDS ELNTKLSQLP DLLLQACPFG TLLDANLQNS
LDNTNFASVT QPQKQPAWKT GTYKGKPQVS ISITEKVKSM QYDKQGIADT WQVVGTVTCK
CDLEGIMPNV TISLSLPTNG SPLQDILVHP CVTSLDSAIL TSSSIDAMDD SAFSGPYKFP
FTPPLESFNL CFYTSQVPVP PILGFYQMKE EEVQLRITIN LKLHESVKNN FEFCEAHIPF
YNRGPITHLE YKTSFGQLEV FREKSLLIWI IGQKFPKSME ISLSGTVTFG AKSHEKQPFD
PICTGETAYL KLHFRILDYT LTGCYADQHS VQVFASGKPK ISAHRKLISS DYYIWNSKAP
APVTYGSLLL
