O00203 (AP3B1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
AP-3 complex subunit beta-1

Alternative name(s):
Adapter-related protein complex 3 subunit beta-1
Adaptor protein complex AP-3 subunit beta-1
Beta-3A-adaptin
Clathrin assembly protein complex 3 beta-1 large chain

Gene names

Name:	AP3B1
Synonyms:	ADTB3A

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	1094 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. 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	AP-3 associates with the BLOC-1 complex By similarity. 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).
Subcellular location	Golgi apparatus. Cytoplasmic vesicle › clathrin-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side By similarity. Golgi apparatus By similarity. Note: Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex By similarity.
Tissue specificity	Ubiquitously expressed. Ref.1 Ref.2
Post-translational modification	Phosphorylated on serine residues. Ref.2
Involvement in disease	Hermansky-Pudlak syndrome 2 (HPS2) [MIM:608233]: A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS2 differs from the other forms of HPS in that it includes immunodeficiency in its phenotype and patients with HPS2 have an increased susceptibility to infections. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12
Sequence similarities	Belongs to the adaptor complexes large subunit family.

Ontologies

Keywords
Biological process	Endocytosis Protein transport Transport
Cellular component	Cytoplasmic vesicle Golgi apparatus Membrane
Coding sequence diversity	Alternative splicing
Disease	Albinism Disease mutation Hermansky-Pudlak syndrome
PTM	Phosphoprotein
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 antigen processing and presentation, exogenous lipid antigen via MHC class Ib Inferred from electronic annotation. Source: Compara blood coagulation Inferred from electronic annotation. Source: Compara endocytosis Inferred from electronic annotation. Source: UniProtKB-KW intracellular protein transport Traceable author statement PubMed 9931340. Source: ProtInc melanosome organization Inferred from mutant phenotype PubMed 19841138. Source: UniProtKB positive regulation of NK T cell differentiation Inferred from electronic annotation. Source: Compara protein targeting to lysosome Inferred from electronic annotation. Source: Compara
Cellular_component	AP-3 adaptor complex Inferred from electronic annotation. Source: InterPro Golgi apparatus Traceable author statement Ref.1. Source: ProtInc clathrin-coated vesicle membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O00203-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: O00203-2)

The sequence of this isoform differs from the canonical sequence as follows:
     44-1094: Missing.

Note: May be due to a competing donor splice site. No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1094	1094	AP-3 complex subunit beta-1		PRO_0000193746
Regions
	Compositional bias	677 – 802	126	Glu/Ser-rich
Amino acid modifications
	Modified residue	276	1	Phosphoserine Ref.9 Ref.10 Ref.11
	Modified residue	609	1	Phosphoserine Ref.7 Ref.10
	Modified residue	750	1	Phosphoserine Ref.10
	Modified residue	752	1	Phosphoserine Ref.10
Natural variations
	Alternative sequence	44 – 1094	1051	Missing in isoform 2.		VSP_009233
	Natural variant	390 – 410	21	Missing in HPS2.		VAR_011595
	Natural variant	580	1	L → R in HPS2. Ref.12		VAR_011596
	Natural variant	585	1	V → E. Ref.1 Ref.2 Ref.5 Ref.13 Corresponds to variant rs6453373 [ dbSNP | Ensembl ].		VAR_058404
Experimental info
	Sequence conflict	804	1	Missing in AAD03778. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 28, 2009. Version 3. Checksum: AC683CE18EF90555	FASTA	1,094	121,320
	10 20 30 40 50 60 MSSNSFPYNE QSGGGEATEL GQEATSTISP SGAFGLFSSD LKKNEDLKQM LESNKDSAKL 70 80 90 100 110 120 DAMKRIVGMI AKGKNASELF PAVVKNVASK NIEIKKLVYV YLVRYAEEQQ DLALLSISTF 130 140 150 160 170 180 QRALKDPNQL IRASALRVLS SIRVPIIVPI MMLAIKEASA DLSPYVRKNA AHAIQKLYSL 190 200 210 220 230 240 DPEQKEMLIE VIEKLLKDKS TLVAGSVVMA FEEVCPDRID LIHKNYRKLC NLLVDVEEWG 250 260 270 280 290 300 QVVIIHMLTR YARTQFVSPW KEGDELEDNG KNFYESDDDQ KEKTDKKKKP YTMDPDHRLL 310 320 330 340 350 360 IRNTKPLLQS RNAAVVMAVA QLYWHISPKS EAGIISKSLV RLLRSNREVQ YIVLQNIATM 370 380 390 400 410 420 SIQRKGMFEP YLKSFYVRST DPTMIKTLKL EILTNLANEA NISTLLREFQ TYVKSQDKQF 430 440 450 460 470 480 AAATIQTIGR CATNILEVTD TCLNGLVCLL SNRDEIVVAE SVVVIKKLLQ MQPAQHGEII 490 500 510 520 530 540 KHMAKLLDSI TVPVARASIL WLIGENCERV PKIAPDVLRK MAKSFTSEDD LVKLQILNLG 550 560 570 580 590 600 AKLYLTNSKQ TKLLTQYILN LGKYDQNYDI RDRTRFIRQL IVPNVKSGAL SKYAKKIFLA 610 620 630 640 650 660 QKPAPLLESP FKDRDHFQLG TLSHTLNIKA TGYLELSNWP EVAPDPSVRN VEVIELAKEW 670 680 690 700 710 720 TPAGKAKQEN SAKKFYSESE EEEDSSDSSS DSESESGSES GEQGESGEEG DSNEDSSEDS 730 740 750 760 770 780 SSEQDSESGR ESGLENKRTA KRNSKAKGKS DSEDGEKENE KSKTSDSSND ESSSIEDSSS 790 800 810 820 830 840 DSESESEPES ESESRRVTKE KEKKTKQDRT PLTKDVSLLD LDDFNPVSTP VALPTPALSP 850 860 870 880 890 900 SLMADLEGLH LSTSSSVISV STPAFVPTKT HVLLHRMSGK GLAAHYFFPR QPCIFGDKMV 910 920 930 940 950 960 SIQITLNNTT DRKIENIHIG EKKLPIGMKM HVFNPIDSLE PEGSITVSMG IDFCDSTQTA 970 980 990 1000 1010 1020 SFQLCTKDDC FNVNIQPPVG ELLLPVAMSE KDFKKEQGVL TGMNETSAVI IAAPQNFTPS 1030 1040 1050 1060 1070 1080 VIFQKVVNVA NVGAVPSGQD NIHRFAAKTV HSGSLMLVTV ELKEGSTAQL IINTEKTVIG 1090 SVLLRELKPV LSQG
	Isoform 2 [UniParc]. Checksum: D349C9972834E59F	FASTA	43	4,416
	10 20 30 40 MSSNSFPYNE QSGGGEATEL GQEATSTISP SGAFGLFSSD LKK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Characterization of the adaptor-related protein complex, AP-3." Simpson F., Peden A.A., Christopoulou L., Robinson M.S. J. Cell Biol. 137:835-845(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANT GLU-585. Tissue: Heart.
[2]	"Beta3A-adaptin, a subunit of the adaptor-like complex AP-3." Dell'Angelica E.C., Ooi C.E., Bonifacino J.S. J. Biol. Chem. 272:15078-15084(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PHOSPHORYLATION, TISSUE SPECIFICITY, VARIANT GLU-585. Tissue: Pancreas.
[3]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Colon.
[4]	"The DNA sequence and comparative analysis of human chromosome 5." Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S. , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M. Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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] (ISOFORM 1), VARIANT GLU-585. Tissue: Uterus.
[6]	"Identification of CpG islands hypermethylated in human tumors by the arbitrarily primed-PCR method." Kisseljov F., Petrenko A., Eshilev E., Kisseljova N. Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-42. Tissue: Cervix.
[7]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-609, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[8]	"Phosphoproteome of resting human platelets." Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A. J. Proteome Res. 7:526-534(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Platelet.
[9]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-276, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[10]	"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-276; SER-609; SER-750 AND SER-752, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[11]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-276, MASS SPECTROMETRY.
[12]	"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: VARIANTS HPS2 390-LEU--GLN-410 DEL AND ARG-580.
[13]	"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: VARIANT [LARGE SCALE ANALYSIS] GLU-585, MASS SPECTROMETRY.
+	Additional computationally mapped references.

Web resources

AP3B1base

AP3B1 mutation db

Mutations of the ADTB3A gene

Retina International's Scientific Newsletter

Albinism database (ADB)

AP3B1 mutations

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	U91931 mRNA. Translation: AAD03778.1. U81504 mRNA. Translation: AAB61638.1. BX538041 mRNA. Translation: CAD97982.1. AC024568 Genomic DNA. No translation available. AC024578 Genomic DNA. No translation available. AC104108 Genomic DNA. No translation available. AC112197 Genomic DNA. No translation available. BC038444 mRNA. Translation: AAH38444.1. AF247736 Genomic DNA. Translation: AAG01739.1.
IPI	IPI00021129. IPI00397887.
PIR	T50651. T50652.
RefSeq	NP_001258698.1. NM_001271769.1. NP_003655.3. NM_003664.4.
UniGene	Hs.532091.
3D structure databases
ProteinModelPortal	O00203.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-24208N.
IntAct	O00203. 1 interaction.
STRING	9606.ENSP00000255194.
PTM databases
PhosphoSite	O00203.
Proteomic databases
PaxDb	O00203.
PRIDE	O00203.
Protocols and materials databases
DNASU	8546.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000255194; ENSP00000255194; ENSG00000132842.
GeneID	8546.
KEGG	hsa:8546.
UCSC	uc003kfj.3. human.
Organism-specific databases
CTD	8546.
GeneCards	GC05M077296.
HGNC	HGNC:566. AP3B1.
HPA	HPA038737.
MIM	203300. phenotype. 603401. gene. 608233. phenotype.
neXtProt	NX_O00203.
Orphanet	183678. Hermansky-Pudlak syndrome with neutropenia.
PharmGKB	PA24857.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5096.
HOGENOM	HOG000033978.
HOVERGEN	HBG050519.
InParanoid	O00203.
KO	K12397.
OMA	KRIVGMI.
OrthoDB	EOG4H729X.
PhylomeDB	O00203.
Enzyme and pathway databases
Reactome	REACT_11123. Membrane Trafficking.
Gene expression databases
ArrayExpress	O00203.
Bgee	O00203.
CleanEx	HS_AP3B1.
Genevestigator	O00203.
GermOnline	ENSG00000132842. Homo sapiens.
Family and domain databases
Gene3D	1.25.10.10. 2 hits.
InterPro	IPR026740. AP3_beta. IPR026739. AP_beta. IPR011989. ARM-like. IPR016024. ARM-type_fold. IPR002553. Clathrin/coatomer_adapt-like_N. [Graphical view]
PANTHER	PTHR11134. PTHR11134. 1 hit. PTHR11134:SF1. PTHR11134:SF1. 1 hit.
Pfam	PF01602. Adaptin_N. 1 hit. [Graphical view]
PIRSF	PIRSF037096. AP3_complex_beta. 1 hit.
SUPFAM	SSF48371. ARM-type_fold. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	AP3B1. human.
GenomeRNAi	8546.
NextBio	32018.
SOURCE	Search...

Entry information

Entry name

AP3B1_HUMAN

Accession

Primary (citable) accession number: O00203
Secondary accession number(s): O00580, Q7Z393, Q9HD66

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 26, 2001
Last sequence update:	July 28, 2009
Last modified:	May 1, 2013
This is version 127 of the entry and version 3 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.