P56377 (AP1S2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
AP-1 complex subunit sigma-2

Alternative name(s):
Adapter-related protein complex 1 sigma-1B subunit
Adaptor protein complex AP-1 sigma-1B subunit
Clathrin assembly protein complex 1 sigma-1B small chain
Golgi adaptor HA1/AP1 adaptin sigma-1B subunit
Sigma 1B subunit of AP-1 clathrin
Sigma-adaptin 1B
Sigma1B-adaptin

Gene names

Name:	AP1S2
ORF Names:	DC22

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

General annotation (Comments)

Function	Subunit of clathrin-associated adaptor protein complex 1 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.
Subunit structure	Adaptor protein complex 1 (AP-1) is a heterotetramer composed of two large adaptins (gamma-type subunit AP1G1 and beta-type subunit AP1B1), a medium adaptin (mu-type subunit AP1M1 or AP1M2) and a small adaptin (sigma-type subunit AP1S1 or AP1S2 or AP1S3). Binds to MUC1. Ref.6
Subcellular location	Golgi apparatus. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Membrane › clathrin-coated pit. Note: Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.
Tissue specificity	Widely expressed.
Involvement in disease	Mental retardation, X-linked 59 (MRX59) [MIM:300630]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX59 consists of a mild-to-profound mental retardation. Other features includes hypotonia early in life and delay in walking. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7
Sequence similarities	Belongs to the adaptor complexes small subunit family.
Sequence caution	The sequence AAG44595.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Endocytosis Protein transport Transport
Cellular component	Coated pit Cytoplasmic vesicle Golgi apparatus Membrane
Disease	Mental retardation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	antigen processing and presentation of exogenous peptide antigen via MHC class II Traceable author statement. Source: Reactome cellular membrane organization Traceable author statement. Source: Reactome endocytosis Inferred from electronic annotation. Source: UniProtKB-KW intracellular protein transport Inferred from electronic annotation. Source: InterPro post-Golgi vesicle-mediated transport Traceable author statement. Source: Reactome regulation of defense response to virus by virus Traceable author statement. Source: Reactome viral reproduction Traceable author statement. Source: Reactome
Cellular_component	AP-type membrane coat adaptor complex Traceable author statement Ref.1. Source: ProtInc Golgi membrane Traceable author statement. Source: Reactome coated pit Inferred from electronic annotation. Source: UniProtKB-SubCell cytoplasmic vesicle membrane Traceable author statement. Source: Reactome cytosol Traceable author statement. Source: Reactome lysosomal membrane Traceable author statement. Source: Reactome trans-Golgi network membrane Traceable author statement. Source: Reactome
Molecular_function	protein transporter activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 157	157	AP-1 complex subunit sigma-2		PRO_0000193799
Experimental info
	Sequence conflict	1	1	M → L in AAG44595. Ref.2
	Sequence conflict	72 – 74	3	DQD → ESRN in AAC72946. Ref.5
	Sequence conflict	96 – 98	3	SVC → QCL in AAC72946. Ref.5
	Sequence conflict	143	1	E → EE in AAG44595. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	P56377 [UniParc]. Last modified July 15, 1998. Version 1. Checksum: DD9F59119909D89C	FASTA	157	18,615
	10 20 30 40 50 60 MQFMLLFSRQ GKLRLQKWYV PLSDKEKKKI TRELVQTVLA RKPKMCSFLE WRDLKIVYKR 70 80 90 100 110 120 YASLYFCCAI EDQDNELITL EIIHRYVELL DKYFGSVCEL DIIFNFEKAY FILDEFLLGG 130 140 150 EVQETSKKNV LKAIEQADLL QEEAETPRSV LEEIGLT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification and characterization of novel clathrin adaptor-related proteins." Takatsu H., Sakurai M., Shin H.-W., Murakami K., Nakayama K. J. Biol. Chem. 273:24693-24700(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Novel genes expressed in human dendritic cell." Xu X., Yang Y., Gao G., Xiao H., Chen Z., Han Z. Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Dendritic cell.
[3]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[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: Skin and Uterus.
[5]	"Full-insert sequence of mapped XREF EST." Barrow I.K.-P., Boguski M.S., Touchman J.W., Spencer F. Submitted (AUG-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-98.
[6]	"MUC1 membrane trafficking is modulated by multiple interactions." Kinlough C.L., Poland P.A., Bruns J.B., Harkleroad K.L., Hughey R.P. J. Biol. Chem. 279:53071-53077(2004) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH MUC1.
[7]	"Mutations in the gene encoding the sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation." Tarpey P.S., Stevens C., Teague J., Edkins S., O'Meara S., Avis T., Barthorpe S., Buck G., Butler A., Cole J., Dicks E., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jones D., Menzies A. , Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., West S., Widaa S., Yates A., Catford R., Butler J., Mallya U., Moon J., Luo Y., Dorkins H., Thompson D., Easton D.F., Wooster R., Bobrow M., Carpenter N., Simensen R.J., Schwartz C.E., Stevenson R.E., Turner G., Partington M., Gecz J., Stratton M.R., Futreal P.A., Raymond F.L. Am. J. Hum. Genet. 79:1119-1124(2006) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN MRX59.
[8]	"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	AB015320 mRNA. Translation: BAA33392.1. AF251295 mRNA. Translation: AAG44595.1. Different initiation. BT006738 mRNA. Translation: AAP35384.1. BC001117 mRNA. Translation: AAH01117.1. BC071867 mRNA. Translation: AAH71867.1. AF091077 mRNA. Translation: AAC72946.1.
IPI	IPI00922006.
RefSeq	NP_003907.3. NM_003916.4.
UniGene	Hs.653504.
3D structure databases
ProteinModelPortal	P56377.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000328789.
PTM databases
PhosphoSite	P56377.
Polymorphism databases
DMDM	3023308.
Proteomic databases
PaxDb	P56377.
PRIDE	P56377.
Protocols and materials databases
DNASU	8905.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000329235; ENSP00000328789; ENSG00000182287.
GeneID	8905.
KEGG	hsa:8905.
UCSC	uc004cxi.3. human.
Organism-specific databases
CTD	8905.
GeneCards	GC0XM015843.
HGNC	HGNC:560. AP1S2.
MIM	300629. gene. 300630. phenotype.
neXtProt	NX_P56377.
Orphanet	85335. Fried syndrome.
PharmGKB	PA24851.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5030.
HOGENOM	HOG000185227.
HOVERGEN	HBG050517.
KO	K12394.
OMA	MMQFMLL.
OrthoDB	EOG469QVZ.
PhylomeDB	P56377.
Enzyme and pathway databases
Reactome	REACT_11123. Membrane Trafficking. REACT_116125. Disease. REACT_6900. Immune System.
Gene expression databases
ArrayExpress	P56377.
Bgee	P56377.
CleanEx	HS_AP1S2.
Genevestigator	P56377.
GermOnline	ENSG00000182287. Homo sapiens.
Family and domain databases
InterPro	IPR016635. AP_complex_ssu. IPR022775. AP_mu_sigma_su. IPR000804. Clathrin_sm-chain_CS. IPR011012. Longin-like_dom. [Graphical view]
PANTHER	PTHR11753. PTHR11753. 1 hit.
Pfam	PF01217. Clat_adaptor_s. 1 hit. [Graphical view]
PIRSF	PIRSF015588. AP_complex_sigma. 1 hit.
SUPFAM	SSF64356. Longin_like. 1 hit.
PROSITE	PS00989. CLAT_ADAPTOR_S. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	8905.
NextBio	33457.
SOURCE	Search...

Entry information

Entry name

AP1S2_HUMAN

Accession

Primary (citable) accession number: P56377
Secondary accession number(s): O95326, Q9H2N6

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1998
Last sequence update:	July 15, 1998
Last modified:	May 1, 2013
This is version 126 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.