Full text data of AP3S1
AP3S1
(CLAPS3)
[Confidence: low (only semi-automatic identification from reviews)]
AP-3 complex subunit sigma-1 (AP-3 complex subunit sigma-3A; Adapter-related protein complex 3 subunit sigma-1; Clathrin-associated/assembly/adapter protein, small 3; Sigma-3A-adaptin; Sigma3A-adaptin; Sigma-adaptin 3a)
AP-3 complex subunit sigma-1 (AP-3 complex subunit sigma-3A; Adapter-related protein complex 3 subunit sigma-1; Clathrin-associated/assembly/adapter protein, small 3; Sigma-3A-adaptin; Sigma3A-adaptin; Sigma-adaptin 3a)
UniProt
Q92572
ID AP3S1_HUMAN Reviewed; 193 AA.
AC Q92572; O00647; O00676; O00721; O00727; Q53XL4; Q6ICQ2;
DT 19-JUL-2003, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-FEB-1997, sequence version 1.
DT 22-JAN-2014, entry version 115.
DE RecName: Full=AP-3 complex subunit sigma-1;
DE AltName: Full=AP-3 complex subunit sigma-3A;
DE AltName: Full=Adapter-related protein complex 3 subunit sigma-1;
DE AltName: Full=Clathrin-associated/assembly/adapter protein, small 3;
DE AltName: Full=Sigma-3A-adaptin;
DE Short=Sigma3A-adaptin;
DE AltName: Full=Sigma-adaptin 3a;
GN Name=AP3S1; Synonyms=CLAPS3;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RC TISSUE=Fetal brain;
RX PubMed=8697810;
RA Watanabe T.K., Shimizu F., Nagata M., Takaichi A., Fujiwara T.,
RA Nakamura Y., Takahashi E., Hirai Y.;
RT "Cloning, expression pattern and mapping to 12p 13.2 --> p13.1 of
RT CLAPS3, a gene encoding a novel clathrin-adaptor small chain.";
RL Cytogenet. Cell Genet. 73:214-217(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RC TISSUE=Placenta;
RX PubMed=9151686; DOI=10.1083/jcb.137.4.835;
RA Simpson F., Peden A.A., Christopoulou L., Robinson M.S.;
RT "Characterization of the adaptor-related protein complex, AP-3.";
RL J. Cell Biol. 137:835-845(1997).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RC TISSUE=Brain, Pancreas, and Placenta;
RX PubMed=9118953; DOI=10.1093/emboj/16.5.917;
RA Dell'Angelica E.C., Ohno H., Ooi C.E., Rabinovich E., Roche K.W.,
RA Bonifacino J.S.;
RT "AP-3: an adaptor-like protein complex with ubiquitous expression.";
RL EMBO J. 16:917-928(1997).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor
RT vector.";
RL Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta;
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
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- FUNCTION: Part of the AP-3 complex, an adapter-related complex
CC which is not clathrin-associated. The complex is associated with
CC the Golgi region as well as more peripheral structures. It
CC facilitates the budding of vesicles from the Golgi membrane and
CC may be directly involved in trafficking to lysosomes. In concert
CC with the BLOC-1 complex, AP-3 is required to target cargos into
CC vesicles assembled at cell bodies for delivery into neurites and
CC nerve terminals.
CC -!- SUBUNIT: Adaptor protein complex 3 (AP-3) is a heterotetramer
CC composed of two large adaptins (delta-type subunit AP3D1 and beta-
CC type subunit AP3B1 or AP3B2), a medium adaptin (mu-type subunit
CC AP3M1 or AP3M2) and a small adaptin (sigma-type subunit APS1 or
CC AP3S2). Interacts with AGAP1. AP-3 associates with the BLOC-1
CC complex (By similarity).
CC -!- SUBCELLULAR LOCATION: Golgi apparatus. Cytoplasmic vesicle
CC membrane; Peripheral membrane protein; Cytoplasmic side.
CC Note=Component of the coat surrounding the cytoplasmic face of
CC coated vesicles located at the Golgi complex.
CC -!- TISSUE SPECIFICITY: Present in all adult tissues examined.
CC -!- SIMILARITY: Belongs to the adaptor complexes small subunit family.
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; D63643; BAA09798.1; -; mRNA.
DR EMBL; U91932; AAD03779.1; -; mRNA.
DR EMBL; X99458; CAA67823.1; -; mRNA.
DR EMBL; BT009833; AAP88835.1; -; mRNA.
DR EMBL; CR450341; CAG29337.1; -; mRNA.
DR EMBL; BC000804; AAH00804.1; -; mRNA.
DR RefSeq; NP_001275.1; NM_001284.2.
DR UniGene; Hs.406191; -.
DR ProteinModelPortal; Q92572; -.
DR SMR; Q92572; 1-148.
DR STRING; 9606.ENSP00000325369; -.
DR PhosphoSite; Q92572; -.
DR DMDM; 33112222; -.
DR PaxDb; Q92572; -.
DR PRIDE; Q92572; -.
DR DNASU; 1176; -.
DR Ensembl; ENST00000316788; ENSP00000325369; ENSG00000177879.
DR GeneID; 1176; -.
DR KEGG; hsa:1176; -.
DR UCSC; uc003krk.3; human.
DR CTD; 1176; -.
DR GeneCards; GC05P115177; -.
DR HGNC; HGNC:2013; AP3S1.
DR MIM; 601507; gene.
DR neXtProt; NX_Q92572; -.
DR PharmGKB; PA24862; -.
DR eggNOG; COG5030; -.
DR HOVERGEN; HBG050517; -.
DR InParanoid; Q92572; -.
DR KO; K12399; -.
DR OMA; IFNTSGV; -.
DR OrthoDB; EOG7W41CZ; -.
DR PhylomeDB; Q92572; -.
DR Reactome; REACT_11123; Membrane Trafficking.
DR ChiTaRS; AP3S1; human.
DR GeneWiki; AP3S1; -.
DR GenomeRNAi; 1176; -.
DR NextBio; 4862; -.
DR PRO; PR:Q92572; -.
DR ArrayExpress; Q92572; -.
DR Bgee; Q92572; -.
DR CleanEx; HS_AP3S1; -.
DR Genevestigator; Q92572; -.
DR GO; GO:0030123; C:AP-3 adaptor complex; IDA:FlyBase.
DR GO; GO:0030659; C:cytoplasmic vesicle membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005794; C:Golgi apparatus; IEA:UniProtKB-SubCell.
DR GO; GO:0030133; C:transport vesicle; TAS:ProtInc.
DR GO; GO:0008565; F:protein transporter activity; IEA:InterPro.
DR GO; GO:0005215; F:transporter activity; NAS:ProtInc.
DR GO; GO:0008089; P:anterograde axon cargo transport; ISS:UniProtKB.
DR GO; GO:0048490; P:anterograde synaptic vesicle transport; ISS:UniProtKB.
DR GO; GO:0008286; P:insulin receptor signaling pathway; TAS:ProtInc.
DR GO; GO:0006886; P:intracellular protein transport; IEA:InterPro.
DR InterPro; IPR016635; AP_complex_ssu.
DR InterPro; IPR022775; AP_mu_sigma_su.
DR InterPro; IPR000804; Clathrin_sm-chain_CS.
DR InterPro; IPR011012; Longin-like_dom.
DR PANTHER; PTHR11753; PTHR11753; 1.
DR Pfam; PF01217; Clat_adaptor_s; 1.
DR PIRSF; PIRSF015588; AP_complex_sigma; 1.
DR SUPFAM; SSF64356; SSF64356; 1.
DR PROSITE; PS00989; CLAT_ADAPTOR_S; 1.
PE 1: Evidence at protein level;
KW Complete proteome; Cytoplasmic vesicle; Golgi apparatus; Membrane;
KW Polymorphism; Protein transport; Reference proteome; Transport.
FT CHAIN 1 193 AP-3 complex subunit sigma-1.
FT /FTId=PRO_0000193815.
FT VARIANT 158 158 P -> L (in dbSNP:rs7733604).
FT /FTId=VAR_059111.
SQ SEQUENCE 193 AA; 21732 MW; 1EF17F375881288D CRC64;
MIKAILIFNN HGKPRLSKFY QPYSEDTQQQ IIRETFHLVS KRDENVCNFL EGGLLIGGSD
NKLIYRHYAT LYFVFCVDSS ESELGILDLI QVFVETLDKC FENVCELDLI FHVDKVHNIL
AEMVMGGMVL ETNMNEIVTQ IDAQNKLEKS EAGLAGAPAR AVSAVKNMNL PEIPRNINIG
DISIKVPNLP SFK
//
ID AP3S1_HUMAN Reviewed; 193 AA.
AC Q92572; O00647; O00676; O00721; O00727; Q53XL4; Q6ICQ2;
DT 19-JUL-2003, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-FEB-1997, sequence version 1.
DT 22-JAN-2014, entry version 115.
DE RecName: Full=AP-3 complex subunit sigma-1;
DE AltName: Full=AP-3 complex subunit sigma-3A;
DE AltName: Full=Adapter-related protein complex 3 subunit sigma-1;
DE AltName: Full=Clathrin-associated/assembly/adapter protein, small 3;
DE AltName: Full=Sigma-3A-adaptin;
DE Short=Sigma3A-adaptin;
DE AltName: Full=Sigma-adaptin 3a;
GN Name=AP3S1; Synonyms=CLAPS3;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RC TISSUE=Fetal brain;
RX PubMed=8697810;
RA Watanabe T.K., Shimizu F., Nagata M., Takaichi A., Fujiwara T.,
RA Nakamura Y., Takahashi E., Hirai Y.;
RT "Cloning, expression pattern and mapping to 12p 13.2 --> p13.1 of
RT CLAPS3, a gene encoding a novel clathrin-adaptor small chain.";
RL Cytogenet. Cell Genet. 73:214-217(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RC TISSUE=Placenta;
RX PubMed=9151686; DOI=10.1083/jcb.137.4.835;
RA Simpson F., Peden A.A., Christopoulou L., Robinson M.S.;
RT "Characterization of the adaptor-related protein complex, AP-3.";
RL J. Cell Biol. 137:835-845(1997).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RC TISSUE=Brain, Pancreas, and Placenta;
RX PubMed=9118953; DOI=10.1093/emboj/16.5.917;
RA Dell'Angelica E.C., Ohno H., Ooi C.E., Rabinovich E., Roche K.W.,
RA Bonifacino J.S.;
RT "AP-3: an adaptor-like protein complex with ubiquitous expression.";
RL EMBO J. 16:917-928(1997).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor
RT vector.";
RL Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta;
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
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- FUNCTION: Part of the AP-3 complex, an adapter-related complex
CC which is not clathrin-associated. The complex is associated with
CC the Golgi region as well as more peripheral structures. It
CC facilitates the budding of vesicles from the Golgi membrane and
CC may be directly involved in trafficking to lysosomes. In concert
CC with the BLOC-1 complex, AP-3 is required to target cargos into
CC vesicles assembled at cell bodies for delivery into neurites and
CC nerve terminals.
CC -!- SUBUNIT: Adaptor protein complex 3 (AP-3) is a heterotetramer
CC composed of two large adaptins (delta-type subunit AP3D1 and beta-
CC type subunit AP3B1 or AP3B2), a medium adaptin (mu-type subunit
CC AP3M1 or AP3M2) and a small adaptin (sigma-type subunit APS1 or
CC AP3S2). Interacts with AGAP1. AP-3 associates with the BLOC-1
CC complex (By similarity).
CC -!- SUBCELLULAR LOCATION: Golgi apparatus. Cytoplasmic vesicle
CC membrane; Peripheral membrane protein; Cytoplasmic side.
CC Note=Component of the coat surrounding the cytoplasmic face of
CC coated vesicles located at the Golgi complex.
CC -!- TISSUE SPECIFICITY: Present in all adult tissues examined.
CC -!- SIMILARITY: Belongs to the adaptor complexes small subunit family.
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; D63643; BAA09798.1; -; mRNA.
DR EMBL; U91932; AAD03779.1; -; mRNA.
DR EMBL; X99458; CAA67823.1; -; mRNA.
DR EMBL; BT009833; AAP88835.1; -; mRNA.
DR EMBL; CR450341; CAG29337.1; -; mRNA.
DR EMBL; BC000804; AAH00804.1; -; mRNA.
DR RefSeq; NP_001275.1; NM_001284.2.
DR UniGene; Hs.406191; -.
DR ProteinModelPortal; Q92572; -.
DR SMR; Q92572; 1-148.
DR STRING; 9606.ENSP00000325369; -.
DR PhosphoSite; Q92572; -.
DR DMDM; 33112222; -.
DR PaxDb; Q92572; -.
DR PRIDE; Q92572; -.
DR DNASU; 1176; -.
DR Ensembl; ENST00000316788; ENSP00000325369; ENSG00000177879.
DR GeneID; 1176; -.
DR KEGG; hsa:1176; -.
DR UCSC; uc003krk.3; human.
DR CTD; 1176; -.
DR GeneCards; GC05P115177; -.
DR HGNC; HGNC:2013; AP3S1.
DR MIM; 601507; gene.
DR neXtProt; NX_Q92572; -.
DR PharmGKB; PA24862; -.
DR eggNOG; COG5030; -.
DR HOVERGEN; HBG050517; -.
DR InParanoid; Q92572; -.
DR KO; K12399; -.
DR OMA; IFNTSGV; -.
DR OrthoDB; EOG7W41CZ; -.
DR PhylomeDB; Q92572; -.
DR Reactome; REACT_11123; Membrane Trafficking.
DR ChiTaRS; AP3S1; human.
DR GeneWiki; AP3S1; -.
DR GenomeRNAi; 1176; -.
DR NextBio; 4862; -.
DR PRO; PR:Q92572; -.
DR ArrayExpress; Q92572; -.
DR Bgee; Q92572; -.
DR CleanEx; HS_AP3S1; -.
DR Genevestigator; Q92572; -.
DR GO; GO:0030123; C:AP-3 adaptor complex; IDA:FlyBase.
DR GO; GO:0030659; C:cytoplasmic vesicle membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005794; C:Golgi apparatus; IEA:UniProtKB-SubCell.
DR GO; GO:0030133; C:transport vesicle; TAS:ProtInc.
DR GO; GO:0008565; F:protein transporter activity; IEA:InterPro.
DR GO; GO:0005215; F:transporter activity; NAS:ProtInc.
DR GO; GO:0008089; P:anterograde axon cargo transport; ISS:UniProtKB.
DR GO; GO:0048490; P:anterograde synaptic vesicle transport; ISS:UniProtKB.
DR GO; GO:0008286; P:insulin receptor signaling pathway; TAS:ProtInc.
DR GO; GO:0006886; P:intracellular protein transport; IEA:InterPro.
DR InterPro; IPR016635; AP_complex_ssu.
DR InterPro; IPR022775; AP_mu_sigma_su.
DR InterPro; IPR000804; Clathrin_sm-chain_CS.
DR InterPro; IPR011012; Longin-like_dom.
DR PANTHER; PTHR11753; PTHR11753; 1.
DR Pfam; PF01217; Clat_adaptor_s; 1.
DR PIRSF; PIRSF015588; AP_complex_sigma; 1.
DR SUPFAM; SSF64356; SSF64356; 1.
DR PROSITE; PS00989; CLAT_ADAPTOR_S; 1.
PE 1: Evidence at protein level;
KW Complete proteome; Cytoplasmic vesicle; Golgi apparatus; Membrane;
KW Polymorphism; Protein transport; Reference proteome; Transport.
FT CHAIN 1 193 AP-3 complex subunit sigma-1.
FT /FTId=PRO_0000193815.
FT VARIANT 158 158 P -> L (in dbSNP:rs7733604).
FT /FTId=VAR_059111.
SQ SEQUENCE 193 AA; 21732 MW; 1EF17F375881288D CRC64;
MIKAILIFNN HGKPRLSKFY QPYSEDTQQQ IIRETFHLVS KRDENVCNFL EGGLLIGGSD
NKLIYRHYAT LYFVFCVDSS ESELGILDLI QVFVETLDKC FENVCELDLI FHVDKVHNIL
AEMVMGGMVL ETNMNEIVTQ IDAQNKLEKS EAGLAGAPAR AVSAVKNMNL PEIPRNINIG
DISIKVPNLP SFK
//
MIM
601507
*RECORD*
*FIELD* NO
601507
*FIELD* TI
*601507 ADAPTOR-RELATED PROTEIN COMPLEX 3, SIGMA-1 SUBUNIT; AP3S1
;;CLATHRIN-ASSOCIATED/ASSEMBLY/ADAPTOR PROTEIN, SMALL 3, 22-KD; CLAPS3;;
read moreCLATHRIN ADAPTOR COMPLEX AP3, SIGMA-3A SUBUNIT
*FIELD* TX
CLONING
From a human fetal brain cDNA library, Watanabe et al. (1996) isolated a
gene encoding a peptide homologous to clathrin-adaptor small chains in
rat, mouse, and yeast. The AP3S1 gene, which they designated CLAPS3 (for
clathrin-associated/assembly/adaptor protein, small 3, 22-kD), contains
an open reading frame of 579 bp encoding 193 amino acids. Northern blot
analysis revealed expression of a 1.35-kb transcript in all human
tissues examined.
GENE FUNCTION
Dell'Angelica et al. (1997) found that CLAPS3, which they designated
sigma-3A, is part of a large complex, AP3, that appears to be a
ubiquitously expressed adaptor-like complex involved in protein sorting.
Using a yeast 2-hybrid assay, Lefrancois et al. (2004) determined that
the ear domain of the AP3 delta subunit (AP3D1; 607246) interacts with
both isoforms of the sigma-3 subunit, sigma-3A and sigma-3B (AP3S2;
602416). An extended C-terminal segment of sigma-3 was necessary for the
interaction with the delta subunit. The delta-sigma-3 interaction
interfered with the binding of AP3 to ARF (see 103180), but not with its
binding to dileucine-based sorting signals. As a consequence, the delta
subunit ear inhibited the recruitment of AP3 to membranes both in vitro
and in vivo and impaired the sorting of lysosomal membrane proteins.
MAPPING
Watanabe et al. (1996) mapped the AP3S1 gene to chromosome 12p13.2-p13.1
by fluorescence in situ hybridization. However, Gross (2011) mapped the
AP3S1 gene to chromosome 5q22.3-q23.1 based on an alignment of the AP3S1
sequence (GenBank GENBANK BC000804) with the genomic sequence (GRCh37).
*FIELD* RF
1. Dell'Angelica, E. C.; Ohno, H.; Ooi, C. E.; Rabinovich, E.; Roche,
K. W.; Bonifacino, J. S.: AP-3: an adaptor-like protein complex with
ubiquitous expression. EMBO J. 16: 917-928, 1997.
2. Gross, M. B.: Personal Communication. Baltimore, Md. 2/10/2011.
3. Lefrancois, S.; Janvier, K.; Boehm, M.; Ooi, C. E.; Bonifacino,
J. S.: An ear-core interaction regulates the recruitment of the AP-3
complex to membranes. Dev. Cell 7: 619-625, 2004.
4. Watanabe, T. K.; Shimizu, F.; Nagata, M.; Takaichi, A.; Fujiwara,
T.; Nakamura, Y.; Takahashi, E.; Hirai, Y.: Cloning, expression pattern
and mapping to 12p13.2-p13.1 of CLAPS3, a gene encoding a novel clathrin-adaptor
small chain. Cytogenet. Cell Genet. 73: 214-217, 1996.
*FIELD* CN
Matthew B. Gross - updated: 02/10/2011
Patricia A. Hartz - updated: 11/22/2004
Rebekah S. Rasooly - updated: 3/5/1998
*FIELD* CD
Victor A. McKusick: 11/15/1996
*FIELD* ED
mgross: 02/10/2011
wwang: 8/31/2006
mgross: 11/22/2004
psherman: 1/5/1999
psherman: 1/4/1999
alopez: 4/8/1998
alopez: 3/5/1998
alopez: 1/8/1998
mark: 11/17/1996
mark: 11/15/1996
*RECORD*
*FIELD* NO
601507
*FIELD* TI
*601507 ADAPTOR-RELATED PROTEIN COMPLEX 3, SIGMA-1 SUBUNIT; AP3S1
;;CLATHRIN-ASSOCIATED/ASSEMBLY/ADAPTOR PROTEIN, SMALL 3, 22-KD; CLAPS3;;
read moreCLATHRIN ADAPTOR COMPLEX AP3, SIGMA-3A SUBUNIT
*FIELD* TX
CLONING
From a human fetal brain cDNA library, Watanabe et al. (1996) isolated a
gene encoding a peptide homologous to clathrin-adaptor small chains in
rat, mouse, and yeast. The AP3S1 gene, which they designated CLAPS3 (for
clathrin-associated/assembly/adaptor protein, small 3, 22-kD), contains
an open reading frame of 579 bp encoding 193 amino acids. Northern blot
analysis revealed expression of a 1.35-kb transcript in all human
tissues examined.
GENE FUNCTION
Dell'Angelica et al. (1997) found that CLAPS3, which they designated
sigma-3A, is part of a large complex, AP3, that appears to be a
ubiquitously expressed adaptor-like complex involved in protein sorting.
Using a yeast 2-hybrid assay, Lefrancois et al. (2004) determined that
the ear domain of the AP3 delta subunit (AP3D1; 607246) interacts with
both isoforms of the sigma-3 subunit, sigma-3A and sigma-3B (AP3S2;
602416). An extended C-terminal segment of sigma-3 was necessary for the
interaction with the delta subunit. The delta-sigma-3 interaction
interfered with the binding of AP3 to ARF (see 103180), but not with its
binding to dileucine-based sorting signals. As a consequence, the delta
subunit ear inhibited the recruitment of AP3 to membranes both in vitro
and in vivo and impaired the sorting of lysosomal membrane proteins.
MAPPING
Watanabe et al. (1996) mapped the AP3S1 gene to chromosome 12p13.2-p13.1
by fluorescence in situ hybridization. However, Gross (2011) mapped the
AP3S1 gene to chromosome 5q22.3-q23.1 based on an alignment of the AP3S1
sequence (GenBank GENBANK BC000804) with the genomic sequence (GRCh37).
*FIELD* RF
1. Dell'Angelica, E. C.; Ohno, H.; Ooi, C. E.; Rabinovich, E.; Roche,
K. W.; Bonifacino, J. S.: AP-3: an adaptor-like protein complex with
ubiquitous expression. EMBO J. 16: 917-928, 1997.
2. Gross, M. B.: Personal Communication. Baltimore, Md. 2/10/2011.
3. Lefrancois, S.; Janvier, K.; Boehm, M.; Ooi, C. E.; Bonifacino,
J. S.: An ear-core interaction regulates the recruitment of the AP-3
complex to membranes. Dev. Cell 7: 619-625, 2004.
4. Watanabe, T. K.; Shimizu, F.; Nagata, M.; Takaichi, A.; Fujiwara,
T.; Nakamura, Y.; Takahashi, E.; Hirai, Y.: Cloning, expression pattern
and mapping to 12p13.2-p13.1 of CLAPS3, a gene encoding a novel clathrin-adaptor
small chain. Cytogenet. Cell Genet. 73: 214-217, 1996.
*FIELD* CN
Matthew B. Gross - updated: 02/10/2011
Patricia A. Hartz - updated: 11/22/2004
Rebekah S. Rasooly - updated: 3/5/1998
*FIELD* CD
Victor A. McKusick: 11/15/1996
*FIELD* ED
mgross: 02/10/2011
wwang: 8/31/2006
mgross: 11/22/2004
psherman: 1/5/1999
psherman: 1/4/1999
alopez: 4/8/1998
alopez: 3/5/1998
alopez: 1/8/1998
mark: 11/17/1996
mark: 11/15/1996