Q9Y2T2 (AP3M1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
AP-3 complex subunit mu-1

Alternative name(s):
AP-3 adapter complex mu3A subunit
Adapter-related protein complex 3 mu-1 subunit
Mu-adaptin 3A
Mu3A-adaptin

Gene names

Name:

AP3M1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	418 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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.
Subunit structure	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.
Subcellular location	Golgi apparatus.
Sequence similarities	Belongs to the adaptor complexes medium subunit family. Contains 1 MHD (mu homology) domain.

Ontologies

Keywords
Biological process	Protein transport Transport
Cellular component	Golgi apparatus
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	anterograde axon cargo transport Inferred from sequence or structural similarity. Source: UniProtKB anterograde synaptic vesicle transport Inferred from sequence or structural similarity. Source: UniProtKB protein targeting to lysosome Traceable author statement Ref.1. Source: ProtInc
Cellular_component	Golgi apparatus Inferred from electronic annotation. Source: UniProtKB-SubCell clathrin adaptor complex Inferred from electronic annotation. Source: InterPro lysosome Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 418	418	AP-3 complex subunit mu-1		PRO_0000193781
Regions
	Domain	173 – 418	246	MHD
Experimental info
	Sequence conflict	160	1	G → V in BAB15614. Ref.2
	Sequence conflict	285	1	N → D in BAB15614. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q9Y2T2 [UniParc]. Last modified November 1, 1999. Version 1. Checksum: 533E189C320C4C48	FASTA	418	46,939
	10 20 30 40 50 60 MIHSLFLINC SGDIFLEKHW KSVVSQSVCD YFFEAQEKAA DVENVPPVIS TPHHYLISIY 70 80 90 100 110 120 RDKLFFVSVI QTEVPPLFVI EFLHRVADTF QDYFGECSEA AIKDNVVIVY ELLEEMLDNG 130 140 150 160 170 180 FPLATESNIL KELIKPPTIL RSVVNSITGS SNVGDTLPTG QLSNIPWRRA GVKYTNNEAY 190 200 210 220 230 240 FDVVEEIDAI IDKSGSTVFA EIQGVIDACI KLSGMPDLSL SFMNPRLLDD VSFHPCIRFK 250 260 270 280 290 300 RWESERVLSF IPPDGNFRLI SYRVSSQNLV AIPVYVKHSI SFKENSSCGR FDITIGPKQN 310 320 330 340 350 360 MGKTIEGITV TVHMPKVVLN MNLTPTQGSY TFDPVTKVLT WDVGKITPQK LPSLKGLVNL 370 380 390 400 410 QSGAPKPEEN PSLNIQFKIQ QLAISGLKVN RLDMYGEKYK PFKGVKYVTK AGKFQVRT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00032459.
RefSeq	NP_036227.1. NM_012095.4. NP_996895.1. NM_207012.2.
UniGene	Hs.500104.
3D structure databases
ProteinModelPortal	Q9Y2T2.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9Y2T2. 3 interactions.
STRING	9606.ENSP00000347408.
PTM databases
PhosphoSite	Q9Y2T2.
Polymorphism databases
DMDM	13123952.
Proteomic databases
PaxDb	Q9Y2T2.
PeptideAtlas	Q9Y2T2.
PRIDE	Q9Y2T2.
Protocols and materials databases
DNASU	26985.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000355264; ENSP00000347408; ENSG00000185009. ENST00000372745; ENSP00000361831; ENSG00000185009.
GeneID	26985.
KEGG	hsa:26985.
UCSC	uc001jwf.3. human.
Organism-specific databases
CTD	26985.
GeneCards	GC10M075880.
HGNC	HGNC:569. AP3M1.
MIM	610366. gene.
neXtProt	NX_Q9Y2T2.
PharmGKB	PA24860.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG298719.
HOGENOM	HOG000234366.
HOVERGEN	HBG104910.
InParanoid	Q9Y2T2.
KO	K12398.
OMA	HMPKAVL.
OrthoDB	EOG4CC41C.
PhylomeDB	Q9Y2T2.
Enzyme and pathway databases
Reactome	REACT_17015. Metabolism of proteins.
Gene expression databases
ArrayExpress	Q9Y2T2.
Bgee	Q9Y2T2.
CleanEx	HS_AP3M1.
Genevestigator	Q9Y2T2.
GermOnline	ENSG00000185009. Homo sapiens.
Family and domain databases
InterPro	IPR022775. AP_mu_sigma_su. IPR001392. Clathrin_mu. IPR008968. Clathrin_mu_C. IPR018240. Clathrin_mu_CS. IPR011012. Longin-like_dom. [Graphical view]
Pfam	PF00928. Adap_comp_sub. 1 hit. PF01217. Clat_adaptor_s. 1 hit. [Graphical view]
PIRSF	PIRSF005992. Clathrin_mu. 1 hit.
PRINTS	PR00314. CLATHRINADPT.
SUPFAM	SSF49447. AP50. 1 hit. SSF64356. Longin_like. 1 hit.
PROSITE	PS00990. CLAT_ADAPTOR_M_1. 1 hit. PS00991. CLAT_ADAPTOR_M_2. 1 hit. PS51072. MHD. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	AP3M1. human.
GenomeRNAi	26985.
NextBio	49448.
SOURCE	Search...

Entry information

Entry name

AP3M1_HUMAN

Accession

Primary (citable) accession number: Q9Y2T2
Secondary accession number(s): Q5JQ12, Q9H5L2

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 21, 2001
Last sequence update:	November 1, 1999
Last modified:	May 1, 2013
This is version 106 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.