AP3M2_HUMAN
ID AP3M2_HUMAN Reviewed; 418 AA.
AC P53677; B2RCR0; D3DSY2; Q7Z472;
DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-1996, sequence version 1.
DT 03-AUG-2022, entry version 175.
DE RecName: Full=AP-3 complex subunit mu-2;
DE AltName: Full=Adaptor-related protein complex 3 subunit mu-2;
DE AltName: Full=Clathrin assembly protein assembly protein complex 3 mu-2 medium chain;
DE AltName: Full=Clathrin coat assembly protein AP47 homolog 2;
DE AltName: Full=Clathrin coat-associated protein AP47 homolog 2;
DE AltName: Full=Golgi adaptor AP-1 47 kDa protein homolog 2;
DE AltName: Full=HA1 47 kDa subunit homolog 2;
DE AltName: Full=Mu3B-adaptin;
DE AltName: Full=P47B;
GN Name=AP3M2;
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).
RC TISSUE=Brain;
RX PubMed=7601449; DOI=10.1016/0888-7543(95)80207-3;
RA Koyama K., Sudo K., Nakamura Y.;
RT "Isolation of 115 human chromosome 8-specific expressed-sequence tags by
RT exon amplification.";
RL Genomics 26:245-253(1995).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Testis;
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 GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [4]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain, and Lung;
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).
CC -!- FUNCTION: Part of the AP-3 complex, an adaptor-related complex which is
CC not clathrin-associated. The complex is associated with the Golgi
CC region as well as more peripheral structures. It facilitates the
CC budding of vesicles from the Golgi membrane and may be directly
CC involved in trafficking to lysosomes. In concert with the BLOC-1
CC complex, AP-3 is required to target cargos into vesicles assembled at
CC cell bodies for delivery into neurites and nerve terminals.
CC -!- SUBUNIT: AP-3 associates with the BLOC-1 complex (By similarity).
CC Adaptor protein complex 3 (AP-3) is a heterotetramer composed of two
CC large adaptins (delta-type subunit AP3D1 and beta-type subunit AP3B1 or
CC AP3B2), a medium adaptin (mu-type subunit AP3M1 or AP3M2) and a small
CC adaptin (sigma-type subunit APS1 or AP3S2). {ECO:0000250}.
CC -!- INTERACTION:
CC P53677-2; P22607: FGFR3; NbExp=3; IntAct=EBI-12177015, EBI-348399;
CC P53677-2; P01112: HRAS; NbExp=3; IntAct=EBI-12177015, EBI-350145;
CC P53677-2; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-12177015, EBI-16439278;
CC P53677-2; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-12177015, EBI-5235340;
CC -!- SUBCELLULAR LOCATION: Golgi apparatus. Cytoplasmic vesicle membrane
CC {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic
CC side {ECO:0000250}. Note=Component of the coat surrounding the
CC cytoplasmic face of coated vesicles located at the Golgi complex.
CC {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P53677-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P53677-2; Sequence=VSP_055790, VSP_055791;
CC -!- SIMILARITY: Belongs to the adaptor complexes medium subunit family.
CC {ECO:0000305}.
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DR EMBL; D38293; BAA07415.1; -; mRNA.
DR EMBL; AK315228; BAG37657.1; -; mRNA.
DR EMBL; AC103724; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471080; EAW63236.1; -; Genomic_DNA.
DR EMBL; CH471080; EAW63237.1; -; Genomic_DNA.
DR EMBL; CH471080; EAW63238.1; -; Genomic_DNA.
DR EMBL; BC056257; AAH56257.1; -; mRNA.
DR EMBL; BC056398; AAH56398.1; -; mRNA.
DR CCDS; CCDS6125.1; -. [P53677-1]
DR PIR; A57170; A57170.
DR RefSeq; NP_001127768.1; NM_001134296.1. [P53677-1]
DR RefSeq; NP_006794.1; NM_006803.3. [P53677-1]
DR RefSeq; XP_016868466.1; XM_017012977.1. [P53677-1]
DR AlphaFoldDB; P53677; -.
DR SMR; P53677; -.
DR BioGRID; 116147; 22.
DR ComplexPortal; CPX-5053; Neuronal AP-3 Adaptor complex, sigma3b variant.
DR ComplexPortal; CPX-5055; Neuronal AP-3 Adaptor complex, sigma3a variant.
DR CORUM; P53677; -.
DR IntAct; P53677; 14.
DR STRING; 9606.ENSP00000428787; -.
DR iPTMnet; P53677; -.
DR PhosphoSitePlus; P53677; -.
DR BioMuta; AP3M2; -.
DR REPRODUCTION-2DPAGE; P53677; -.
DR EPD; P53677; -.
DR jPOST; P53677; -.
DR MassIVE; P53677; -.
DR MaxQB; P53677; -.
DR PaxDb; P53677; -.
DR PeptideAtlas; P53677; -.
DR PRIDE; P53677; -.
DR ProteomicsDB; 56610; -. [P53677-1]
DR ProteomicsDB; 69159; -.
DR Antibodypedia; 24004; 85 antibodies from 20 providers.
DR DNASU; 10947; -.
DR Ensembl; ENST00000174653.3; ENSP00000174653.3; ENSG00000070718.12. [P53677-1]
DR Ensembl; ENST00000396926.8; ENSP00000380132.3; ENSG00000070718.12. [P53677-1]
DR Ensembl; ENST00000518421.5; ENSP00000428787.1; ENSG00000070718.12. [P53677-1]
DR Ensembl; ENST00000530375.5; ENSP00000431918.1; ENSG00000070718.12. [P53677-2]
DR GeneID; 10947; -.
DR KEGG; hsa:10947; -.
DR MANE-Select; ENST00000396926.8; ENSP00000380132.3; NM_006803.4; NP_006794.1.
DR UCSC; uc003xoo.4; human. [P53677-1]
DR CTD; 10947; -.
DR DisGeNET; 10947; -.
DR GeneCards; AP3M2; -.
DR HGNC; HGNC:570; AP3M2.
DR HPA; ENSG00000070718; Low tissue specificity.
DR MIM; 610469; gene.
DR neXtProt; NX_P53677; -.
DR OpenTargets; ENSG00000070718; -.
DR PharmGKB; PA24861; -.
DR VEuPathDB; HostDB:ENSG00000070718; -.
DR eggNOG; KOG2740; Eukaryota.
DR GeneTree; ENSGT00940000157991; -.
DR InParanoid; P53677; -.
DR OMA; NTITXLV; -.
DR OrthoDB; 928391at2759; -.
DR PhylomeDB; P53677; -.
DR TreeFam; TF315187; -.
DR PathwayCommons; P53677; -.
DR SignaLink; P53677; -.
DR SIGNOR; P53677; -.
DR BioGRID-ORCS; 10947; 19 hits in 1077 CRISPR screens.
DR ChiTaRS; AP3M2; human.
DR GenomeRNAi; 10947; -.
DR Pharos; P53677; Tbio.
DR PRO; PR:P53677; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; P53677; protein.
DR Bgee; ENSG00000070718; Expressed in endothelial cell and 184 other tissues.
DR ExpressionAtlas; P53677; baseline and differential.
DR Genevisible; P53677; HS.
DR GO; GO:0030123; C:AP-3 adaptor complex; IC:ComplexPortal.
DR GO; GO:0030119; C:AP-type membrane coat adaptor complex; TAS:ProtInc.
DR GO; GO:1904115; C:axon cytoplasm; IEA:GOC.
DR GO; GO:0030131; C:clathrin adaptor complex; IEA:InterPro.
DR GO; GO:0031410; C:cytoplasmic vesicle; IBA:GO_Central.
DR GO; GO:0030659; C:cytoplasmic vesicle membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005769; C:early endosome; IC:ComplexPortal.
DR GO; GO:0005794; C:Golgi apparatus; IEA:UniProtKB-SubCell.
DR GO; GO:0098793; C:presynapse; IEA:GOC.
DR GO; GO:0008089; P:anterograde axonal transport; ISS:UniProtKB.
DR GO; GO:0048490; P:anterograde synaptic vesicle transport; ISS:UniProtKB.
DR GO; GO:0035654; P:clathrin-coated vesicle cargo loading, AP-3-mediated; IC:ComplexPortal.
DR GO; GO:0006897; P:endocytosis; IBA:GO_Central.
DR GO; GO:0006886; P:intracellular protein transport; IEA:InterPro.
DR GO; GO:0046907; P:intracellular transport; IC:ComplexPortal.
DR GO; GO:0016183; P:synaptic vesicle coating; IC:ComplexPortal.
DR GO; GO:0036465; P:synaptic vesicle recycling; IC:ComplexPortal.
DR GO; GO:0016192; P:vesicle-mediated transport; IBA:GO_Central.
DR InterPro; IPR036168; AP2_Mu_C_sf.
DR InterPro; IPR022775; AP_mu_sigma_su.
DR InterPro; IPR001392; Clathrin_mu.
DR InterPro; IPR018240; Clathrin_mu_CS.
DR InterPro; IPR011012; Longin-like_dom_sf.
DR InterPro; IPR028565; MHD.
DR Pfam; PF00928; Adap_comp_sub; 1.
DR Pfam; PF01217; Clat_adaptor_s; 1.
DR PIRSF; PIRSF005992; Clathrin_mu; 1.
DR PRINTS; PR00314; CLATHRINADPT.
DR SUPFAM; SSF49447; SSF49447; 1.
DR SUPFAM; SSF64356; SSF64356; 1.
DR PROSITE; PS00990; CLAT_ADAPTOR_M_1; 1.
DR PROSITE; PS00991; CLAT_ADAPTOR_M_2; 1.
DR PROSITE; PS51072; MHD; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasmic vesicle; Golgi apparatus; Membrane;
KW Protein transport; Reference proteome; Transport.
FT CHAIN 1..418
FT /note="AP-3 complex subunit mu-2"
FT /id="PRO_0000193784"
FT DOMAIN 176..417
FT /note="MHD"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00404"
FT VAR_SEQ 268..273
FT /note="NLVAIP -> KCCLGM (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_055790"
FT VAR_SEQ 274..418
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_055791"
SQ SEQUENCE 418 AA; 46977 MW; 8FCC8BB10505A7D5 CRC64;
MIHSLFLINS SGDIFLEKHW KSVVSRSVCD YFFEAQERAT EAENVPPVIP TPHHYLLSVY
RHKIFFVAVI QTEVPPLFVI EFLHRVVDTF QDYFGVCSEP VIKDNVVVVY EVLEEMLDNG
FPLATESNIL KELIKPPTIL RTVVNTITGS TNVGDQLPTG QLSVVPWRRT GVKYTNNEAY
FDVIEEIDAI IDKSGSTITA EIQGVIDACV KLTGMPDLTL SFMNPRLLDD VSFHPCVRFK
RWESERILSF IPPDGNFRLL SYHVSAQNLV AIPVYVKHNI SFRDSSSLGR FEITVGPKQT
MGKTIEGVTV TSQMPKGVLN MSLTPSQGTH TFDPVTKMLS WDVGKINPQK LPSLKGTMSL
QAGASKPDEN PTINLQFKIQ QLAISGLKVN RLDMYGEKYK PFKGIKYMTK AGKFQVRT
