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Q9Y2T2

- AP3M1_HUMAN

UniProt

Q9Y2T2 - AP3M1_HUMAN

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Protein

AP-3 complex subunit mu-1

Gene

AP3M1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals.

GO - Molecular functioni

  1. Rab GTPase binding Source: BHF-UCL

GO - Biological processi

  1. anterograde axon cargo transport Source: UniProtKB
  2. anterograde synaptic vesicle transport Source: UniProtKB
  3. protein targeting to lysosome Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Enzyme and pathway databases

ReactomeiREACT_16907. Association of TriC/CCT with target proteins during biosynthesis.
SignaLinkiQ9Y2T2.

Names & Taxonomyi

Protein namesi
Recommended name:
AP-3 complex subunit mu-1
Alternative name(s):
AP-3 adaptor complex mu3A subunit
Adaptor-related protein complex 3 subunit mu-1
Mu-adaptin 3A
Mu3A-adaptin
Gene namesi
Name:AP3M1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:569. AP3M1.

Subcellular locationi

Golgi apparatus. Cytoplasmic vesicle membrane By similarity; Peripheral membrane protein By similarity; Cytoplasmic side By similarity
Note: Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.By similarity

GO - Cellular componenti

  1. clathrin adaptor complex Source: InterPro
  2. cytoplasmic vesicle Source: UniProtKB-KW
  3. Golgi apparatus Source: UniProtKB-KW
  4. lysosomal membrane Source: UniProtKB
  5. lysosome Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasmic vesicle, Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA24860.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 418418AP-3 complex subunit mu-1PRO_0000193781Add
BLAST

Proteomic databases

MaxQBiQ9Y2T2.
PaxDbiQ9Y2T2.
PeptideAtlasiQ9Y2T2.
PRIDEiQ9Y2T2.

PTM databases

PhosphoSiteiQ9Y2T2.

Expressioni

Gene expression databases

BgeeiQ9Y2T2.
CleanExiHS_AP3M1.
ExpressionAtlasiQ9Y2T2. baseline and differential.
GenevestigatoriQ9Y2T2.

Interactioni

Subunit structurei

Adaptor protein complex 3 (AP-3) is a heterotetramer composed of two large adaptins (delta-type subunit AP3D1 and beta-type subunit AP3B1 or AP3B2), a medium adaptin (mu-type subunit AP3M1 or AP3M2) and a small adaptin (sigma-type subunit APS1 or AP3S2). Interacts with AGAP1. AP-3 associates with the BLOC-1 complex By similarity.By similarity

Protein-protein interaction databases

BioGridi117938. 29 interactions.
IntActiQ9Y2T2. 4 interactions.
STRINGi9606.ENSP00000347408.

Structurei

3D structure databases

ProteinModelPortaliQ9Y2T2.
SMRiQ9Y2T2. Positions 4-418.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini176 – 417242MHDPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 MHD (mu homology) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG298719.
GeneTreeiENSGT00530000062779.
HOGENOMiHOG000234366.
HOVERGENiHBG104910.
InParanoidiQ9Y2T2.
KOiK12398.
OMAiHMPKAVL.
OrthoDBiEOG79KPF6.
PhylomeDBiQ9Y2T2.
TreeFamiTF315187.

Family and domain databases

InterProiIPR022775. AP_mu_sigma_su.
IPR001392. Clathrin_mu.
IPR008968. Clathrin_mu_C.
IPR018240. Clathrin_mu_CS.
IPR011012. Longin-like_dom.
IPR028565. MHD.
[Graphical view]
PfamiPF00928. Adap_comp_sub. 1 hit.
PF01217. Clat_adaptor_s. 1 hit.
[Graphical view]
PIRSFiPIRSF005992. Clathrin_mu. 1 hit.
PRINTSiPR00314. CLATHRINADPT.
SUPFAMiSSF49447. SSF49447. 1 hit.
SSF64356. SSF64356. 1 hit.
PROSITEiPS00990. CLAT_ADAPTOR_M_1. 1 hit.
PS00991. CLAT_ADAPTOR_M_2. 1 hit.
PS51072. MHD. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9Y2T2-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MIHSLFLINC SGDIFLEKHW KSVVSQSVCD YFFEAQEKAA DVENVPPVIS
60 70 80 90 100
TPHHYLISIY RDKLFFVSVI QTEVPPLFVI EFLHRVADTF QDYFGECSEA
110 120 130 140 150
AIKDNVVIVY ELLEEMLDNG FPLATESNIL KELIKPPTIL RSVVNSITGS
160 170 180 190 200
SNVGDTLPTG QLSNIPWRRA GVKYTNNEAY FDVVEEIDAI IDKSGSTVFA
210 220 230 240 250
EIQGVIDACI KLSGMPDLSL SFMNPRLLDD VSFHPCIRFK RWESERVLSF
260 270 280 290 300
IPPDGNFRLI SYRVSSQNLV AIPVYVKHSI SFKENSSCGR FDITIGPKQN
310 320 330 340 350
MGKTIEGITV TVHMPKVVLN MNLTPTQGSY TFDPVTKVLT WDVGKITPQK
360 370 380 390 400
LPSLKGLVNL QSGAPKPEEN PSLNIQFKIQ QLAISGLKVN RLDMYGEKYK
410
PFKGVKYVTK AGKFQVRT
Length:418
Mass (Da):46,939
Last modified:November 1, 1999 - v1
Checksum:i533E189C320C4C48
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti160 – 1601G → V in BAB15614. (PubMed:14702039)Curated
Sequence conflicti285 – 2851N → D in BAB15614. (PubMed:14702039)Curated

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF092092 mRNA. Translation: AAD20446.1.
AK026983 mRNA. Translation: BAB15614.1.
AL731576 Genomic DNA. Translation: CAI39670.1.
BC026232 mRNA. Translation: AAH26232.1.
BC067127 mRNA. Translation: AAH67127.1.
CCDSiCCDS7342.1.
RefSeqiNP_036227.1. NM_012095.4.
NP_996895.1. NM_207012.2.
XP_006717826.1. XM_006717763.1.
XP_006717827.1. XM_006717764.1.
UniGeneiHs.500104.

Genome annotation databases

EnsembliENST00000355264; ENSP00000347408; ENSG00000185009.
ENST00000372745; ENSP00000361831; ENSG00000185009.
GeneIDi26985.
KEGGihsa:26985.
UCSCiuc001jwf.3. human.

Polymorphism databases

DMDMi13123952.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF092092 mRNA. Translation: AAD20446.1 .
AK026983 mRNA. Translation: BAB15614.1 .
AL731576 Genomic DNA. Translation: CAI39670.1 .
BC026232 mRNA. Translation: AAH26232.1 .
BC067127 mRNA. Translation: AAH67127.1 .
CCDSi CCDS7342.1.
RefSeqi NP_036227.1. NM_012095.4.
NP_996895.1. NM_207012.2.
XP_006717826.1. XM_006717763.1.
XP_006717827.1. XM_006717764.1.
UniGenei Hs.500104.

3D structure databases

ProteinModelPortali Q9Y2T2.
SMRi Q9Y2T2. Positions 4-418.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117938. 29 interactions.
IntActi Q9Y2T2. 4 interactions.
STRINGi 9606.ENSP00000347408.

PTM databases

PhosphoSitei Q9Y2T2.

Polymorphism databases

DMDMi 13123952.

Proteomic databases

MaxQBi Q9Y2T2.
PaxDbi Q9Y2T2.
PeptideAtlasi Q9Y2T2.
PRIDEi Q9Y2T2.

Protocols and materials databases

DNASUi 26985.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000355264 ; ENSP00000347408 ; ENSG00000185009 .
ENST00000372745 ; ENSP00000361831 ; ENSG00000185009 .
GeneIDi 26985.
KEGGi hsa:26985.
UCSCi uc001jwf.3. human.

Organism-specific databases

CTDi 26985.
GeneCardsi GC10M075880.
HGNCi HGNC:569. AP3M1.
MIMi 610366. gene.
neXtProti NX_Q9Y2T2.
PharmGKBi PA24860.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG298719.
GeneTreei ENSGT00530000062779.
HOGENOMi HOG000234366.
HOVERGENi HBG104910.
InParanoidi Q9Y2T2.
KOi K12398.
OMAi HMPKAVL.
OrthoDBi EOG79KPF6.
PhylomeDBi Q9Y2T2.
TreeFami TF315187.

Enzyme and pathway databases

Reactomei REACT_16907. Association of TriC/CCT with target proteins during biosynthesis.
SignaLinki Q9Y2T2.

Miscellaneous databases

ChiTaRSi AP3M1. human.
GeneWikii AP3M1.
GenomeRNAii 26985.
NextBioi 49448.
PROi Q9Y2T2.
SOURCEi Search...

Gene expression databases

Bgeei Q9Y2T2.
CleanExi HS_AP3M1.
ExpressionAtlasi Q9Y2T2. baseline and differential.
Genevestigatori Q9Y2T2.

Family and domain databases

InterProi IPR022775. AP_mu_sigma_su.
IPR001392. Clathrin_mu.
IPR008968. Clathrin_mu_C.
IPR018240. Clathrin_mu_CS.
IPR011012. Longin-like_dom.
IPR028565. MHD.
[Graphical view ]
Pfami PF00928. Adap_comp_sub. 1 hit.
PF01217. Clat_adaptor_s. 1 hit.
[Graphical view ]
PIRSFi PIRSF005992. Clathrin_mu. 1 hit.
PRINTSi PR00314. CLATHRINADPT.
SUPFAMi SSF49447. SSF49447. 1 hit.
SSF64356. SSF64356. 1 hit.
PROSITEi PS00990. CLAT_ADAPTOR_M_1. 1 hit.
PS00991. CLAT_ADAPTOR_M_2. 1 hit.
PS51072. MHD. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor."
    Dell'Angelica E.C., Shotelersuk V., Aguilar R.C., Gahl W.A., Bonifacino J.S.
    Mol. Cell 3:11-21(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Peripheral blood and Skin fibroblast.
  2. "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].
  3. "The DNA sequence and comparative analysis of human chromosome 10."
    Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
    , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
    Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  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: Eye and Prostate.
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiAP3M1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y2T2
Secondary accession number(s): Q5JQ12, Q9H5L2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: November 1, 1999
Last modified: October 29, 2014
This is version 121 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3