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P61966

- AP1S1_HUMAN

UniProt

P61966 - AP1S1_HUMAN

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Protein

AP-1 complex subunit sigma-1A

Gene
AP1S1, AP19, CLAPS1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Molecular functioni

  1. protein transporter activity Source: InterPro

GO - Biological processi

  1. antigen processing and presentation of exogenous peptide antigen via MHC class II Source: Reactome
  2. intracellular protein transport Source: InterPro
  3. membrane organization Source: Reactome
  4. post-Golgi vesicle-mediated transport Source: Reactome
  5. receptor-mediated endocytosis Source: UniProtKB
  6. regulation of defense response to virus by virus Source: Reactome
  7. response to virus Source: UniProtKB
  8. viral process Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Enzyme and pathway databases

ReactomeiREACT_11103. Nef mediated downregulation of MHC class I complex cell surface expression.
REACT_121399. MHC class II antigen presentation.
REACT_19287. Lysosome Vesicle Biogenesis.
REACT_19400. Golgi Associated Vesicle Biogenesis.

Names & Taxonomyi

Protein namesi
Recommended name:
AP-1 complex subunit sigma-1A
Alternative name(s):
Adaptor protein complex AP-1 subunit sigma-1A
Adaptor-related protein complex 1 subunit sigma-1A
Clathrin assembly protein complex 1 sigma-1A small chain
Clathrin coat assembly protein AP19
Golgi adaptor HA1/AP1 adaptin sigma-1A subunit
HA1 19 kDa subunit
Sigma 1a subunit of AP-1 clathrin
Sigma-adaptin 1A
Sigma1A-adaptin
Gene namesi
Name:AP1S1
Synonyms:AP19, CLAPS1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:559. AP1S1.

Subcellular locationi

Golgi apparatus. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Membraneclathrin-coated pit
Note: Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.1 Publication

GO - Cellular componenti

  1. AP-1 adaptor complex Source: UniProtKB
  2. coated pit Source: UniProtKB-SubCell
  3. cytoplasmic vesicle membrane Source: Reactome
  4. cytosol Source: Reactome
  5. extracellular vesicular exosome Source: UniProt
  6. Golgi membrane Source: Reactome
  7. lysosomal membrane Source: Reactome
  8. trans-Golgi network membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Coated pit, Cytoplasmic vesicle, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma (MEDNIK) [MIM:609313]: A disorder characterized by erythematous skin lesions and hyperkeratosis, severe psychomotor retardation, peripheral neuropathy, sensorineural hearing loss, together with elevated very-long-chain fatty acids and severe congenital diarrhea.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Keywords - Diseasei

Deafness, Ichthyosis, Mental retardation, Neuropathy

Organism-specific databases

MIMi609313. phenotype.
Orphaneti171851. MEDNIK syndrome.
PharmGKBiPA24850.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 158158AP-1 complex subunit sigma-1APRO_0000193797Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei147 – 1471Phosphoserine2 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiP61966.
PaxDbiP61966.
PRIDEiP61966.

PTM databases

PhosphoSiteiP61966.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Inductioni

Up-regulated in response to enterovirus 71 (EV71) infection.1 Publication

Gene expression databases

BgeeiP61966.
CleanExiHS_AP1S1.
GenevestigatoriP61966.

Interactioni

Subunit structurei

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).

Protein-protein interaction databases

BioGridi107588. 12 interactions.
MINTiMINT-5006039.
STRINGi9606.ENSP00000336666.

Structurei

Secondary structure

1
158
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi2 – 98
Beta strandi14 – 218
Helixi25 – 4016
Beta strandi48 – 525
Beta strandi55 – 628
Beta strandi65 – 717
Helixi77 – 9519
Helixi100 – 1056
Helixi107 – 11711
Beta strandi122 – 1243
Helixi128 – 14619

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4P6ZX-ray3.00S1-158[»]
ProteinModelPortaliP61966.
SMRiP61966. Positions 1-148.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG5030.
HOVERGENiHBG050517.
InParanoidiP61966.
KOiK12394.
OrthoDBiEOG7S7SGC.
PhylomeDBiP61966.
TreeFamiTF312921.

Family and domain databases

InterProiIPR016635. AP_complex_ssu.
IPR022775. AP_mu_sigma_su.
IPR000804. Clathrin_sm-chain_CS.
IPR011012. Longin-like_dom.
[Graphical view]
PANTHERiPTHR11753. PTHR11753. 1 hit.
PfamiPF01217. Clat_adaptor_s. 1 hit.
[Graphical view]
PIRSFiPIRSF015588. AP_complex_sigma. 1 hit.
SUPFAMiSSF64356. SSF64356. 1 hit.
PROSITEiPS00989. CLAT_ADAPTOR_S. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P61966-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MMRFMLLFSR QGKLRLQKWY LATSDKERKK MVRELMQVVL ARKPKMCSFL    50
EWRDLKVVYK RYASLYFCCA IEGQDNELIT LELIHRYVEL LDKYFGSVCE 100
LDIIFNFEKA YFILDEFLMG GDVQDTSKKS VLKAIEQADL LQEEDESPRS 150
VLEEMGLA 158
Length:158
Mass (Da):18,733
Last modified:June 7, 2004 - v1
Checksum:iE461937790406D8B
GO
Isoform 2 (identifier: P61966-2) [UniParc] [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     128-158: KKSVLKAIEQADLLQEEDESPRSVLEEMGLA → TFPFSH

Show »
Length:133
Mass (Da):16,011
Checksum:i3FB1FD64446EBFD6
GO

Sequence cautioni

The sequence AAD45829.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei128 – 15831KKSVL…EMGLA → TFPFSH in isoform 2. VSP_000171Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB015319 mRNA. Translation: BAA33391.1.
BT006779 mRNA. Translation: AAP35425.1.
AK312151 mRNA. Translation: BAG35085.1.
AC004876 Genomic DNA. Translation: AAD45829.1. Different initiation.
CH471197 Genomic DNA. Translation: EAW50199.1.
BC003561 mRNA. Translation: AAH03561.1.
CCDSiCCDS47669.1.
RefSeqiNP_001274.1. NM_001283.3. [P61966-1]
UniGeneiHs.489365.

Genome annotation databases

EnsembliENST00000337619; ENSP00000336666; ENSG00000106367. [P61966-1]
ENST00000443943; ENSP00000410780; ENSG00000106367. [P61966-1]
GeneIDi1174.
KEGGihsa:1174.
UCSCiuc003uxv.4. human.

Polymorphism databases

DMDMi48428719.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB015319 mRNA. Translation: BAA33391.1 .
BT006779 mRNA. Translation: AAP35425.1 .
AK312151 mRNA. Translation: BAG35085.1 .
AC004876 Genomic DNA. Translation: AAD45829.1 . Different initiation.
CH471197 Genomic DNA. Translation: EAW50199.1 .
BC003561 mRNA. Translation: AAH03561.1 .
CCDSi CCDS47669.1.
RefSeqi NP_001274.1. NM_001283.3. [P61966-1 ]
UniGenei Hs.489365.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
4P6Z X-ray 3.00 S 1-158 [» ]
ProteinModelPortali P61966.
SMRi P61966. Positions 1-148.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107588. 12 interactions.
MINTi MINT-5006039.
STRINGi 9606.ENSP00000336666.

PTM databases

PhosphoSitei P61966.

Polymorphism databases

DMDMi 48428719.

Proteomic databases

MaxQBi P61966.
PaxDbi P61966.
PRIDEi P61966.

Protocols and materials databases

DNASUi 1174.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000337619 ; ENSP00000336666 ; ENSG00000106367 . [P61966-1 ]
ENST00000443943 ; ENSP00000410780 ; ENSG00000106367 . [P61966-1 ]
GeneIDi 1174.
KEGGi hsa:1174.
UCSCi uc003uxv.4. human.

Organism-specific databases

CTDi 1174.
GeneCardsi GC07P100797.
HGNCi HGNC:559. AP1S1.
MIMi 603531. gene.
609313. phenotype.
neXtProti NX_P61966.
Orphaneti 171851. MEDNIK syndrome.
PharmGKBi PA24850.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5030.
HOVERGENi HBG050517.
InParanoidi P61966.
KOi K12394.
OrthoDBi EOG7S7SGC.
PhylomeDBi P61966.
TreeFami TF312921.

Enzyme and pathway databases

Reactomei REACT_11103. Nef mediated downregulation of MHC class I complex cell surface expression.
REACT_121399. MHC class II antigen presentation.
REACT_19287. Lysosome Vesicle Biogenesis.
REACT_19400. Golgi Associated Vesicle Biogenesis.

Miscellaneous databases

GeneWikii AP1S1.
GenomeRNAii 1174.
NextBioi 4850.
PROi P61966.
SOURCEi Search...

Gene expression databases

Bgeei P61966.
CleanExi HS_AP1S1.
Genevestigatori P61966.

Family and domain databases

InterProi IPR016635. AP_complex_ssu.
IPR022775. AP_mu_sigma_su.
IPR000804. Clathrin_sm-chain_CS.
IPR011012. Longin-like_dom.
[Graphical view ]
PANTHERi PTHR11753. PTHR11753. 1 hit.
Pfami PF01217. Clat_adaptor_s. 1 hit.
[Graphical view ]
PIRSFi PIRSF015588. AP_complex_sigma. 1 hit.
SUPFAMi SSF64356. SSF64356. 1 hit.
PROSITEi PS00989. CLAT_ADAPTOR_S. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  2. "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] (ISOFORM 2).
  3. "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] (ISOFORM 1).
    Tissue: Caudate nucleus.
  4. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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 2).
    Tissue: Placenta.
  7. "Transcriptomic and proteomic analyses of rhabdomyosarcoma cells reveal differential cellular gene expression in response to enterovirus 71 infection."
    Leong W.F., Chow V.T.
    Cell. Microbiol. 8:565-580(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INDUCTION, IDENTIFICATION BY MASS SPECTROMETRY.
  8. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-147, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. "Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord."
    Montpetit A., Cote S., Brustein E., Drouin C.A., Lapointe L., Boudreau M., Meloche C., Drouin R., Hudson T.J., Drapeau P., Cossette P.
    PLoS Genet. 4:E1000296-E1000296(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN MEDNIK.
  10. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  11. "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-147, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiAP1S1_HUMAN
AccessioniPrimary (citable) accession number: P61966
Secondary accession number(s): B2R5D8
, P82267, Q00382, Q53YA7, Q9BTN4, Q9UDW9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: June 7, 2004
Last modified: September 3, 2014
This is version 103 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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