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Protein

Psoriasis susceptibility 1 candidate gene 1 protein

Gene

PSORS1C1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Psoriasis susceptibility 1 candidate gene 1 protein
Alternative name(s):
Protein SEEK1
Gene namesi
Name:PSORS1C1
Synonyms:C6orf16, SEEK1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:17202. PSORS1C1.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA33919.

Polymorphism and mutation databases

BioMutaiPSORS1C1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 152152Psoriasis susceptibility 1 candidate gene 1 proteinPRO_0000097057Add
BLAST

Proteomic databases

PaxDbiQ9UIG5.
PRIDEiQ9UIG5.

Expressioni

Tissue specificityi

Expressed in skin. Also found in heart, placenta, liver, skeletal muscle and pancreas.1 Publication

Gene expression databases

BgeeiQ9UIG5.
CleanExiHS_PSORS1C1.
ExpressionAtlasiQ9UIG5. baseline and differential.
GenevisibleiQ9UIG5. HS.

Organism-specific databases

HPAiHPA045049.

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410JGJ2. Eukaryota.
ENOG4111DIC. LUCA.
GeneTreeiENSGT00530000064866.
HOGENOMiHOG000115725.
HOVERGENiHBG053734.
InParanoidiQ9UIG5.
OMAiMTSKEFH.
PhylomeDBiQ9UIG5.
TreeFamiTF341897.

Family and domain databases

InterProiIPR028206. SEEK1.
[Graphical view]
PfamiPF15357. SEEK1. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UIG5-1) [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

        10         20         30         40         50
MTCTDQKSHS QRALGTQTPA LQGPQLLNTD PSSEETRPPH VNPDRLCHME
60 70 80 90 100
PANHFWHAGD LQAMISKEFH LAATQDDCRK GRTQEDILVP SSHPELFASV
110 120 130 140 150
LPMAPEEAAR LQQPQPLPPP SGIHLSASRT LAPTLLYSSP PSHSPFGLSS

LI
Length:152
Mass (Da):16,580
Last modified:November 4, 2008 - v2
Checksum:iFEC09B17755B4A33
GO
Isoform 2 (identifier: Q9UIG5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-56: MTCTDQKSHSQRALGTQTPALQGPQLLNTDPSSEETRPPHVNPDRLCHMEPANHFW → MASRR

Show »
Length:101
Mass (Da):10,891
Checksum:i999C105669BE9C9E
GO

Sequence cautioni

The sequence BAB63314.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence BAC54950.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti24 – 241P → T.1 Publication
Corresponds to variant rs1265097 [ dbSNP | Ensembl ].
VAR_017391
Natural varianti34 – 341E → K.2 Publications
Corresponds to variant rs1265096 [ dbSNP | Ensembl ].
VAR_047088
Natural varianti34 – 341E → Q.1 Publication
VAR_017392
Natural varianti37 – 371R → H.1 Publication
Corresponds to variant rs9263726 [ dbSNP | Ensembl ].
VAR_017393
Natural varianti43 – 431P → S.
Corresponds to variant rs9501057 [ dbSNP | Ensembl ].
VAR_047089
Natural varianti66 – 661S → C.
Corresponds to variant rs2233943 [ dbSNP | Ensembl ].
VAR_047090
Natural varianti133 – 1331P → L.1 Publication
Corresponds to variant rs1063646 [ dbSNP | Ensembl ].
VAR_017394

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 5656MTCTD…ANHFW → MASRR in isoform 2. 1 PublicationVSP_009008Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB031479 mRNA. Translation: BAA88130.1.
AF484418 mRNA. Translation: AAO49375.1.
AF484419 mRNA. Translation: AAO49376.1.
BA000025 Genomic DNA. Translation: BAB63314.1. Sequence problems.
AB088114 Genomic DNA. Translation: BAC54950.1. Sequence problems.
AL662844 Genomic DNA. Translation: CAI18324.1.
AL662867 Genomic DNA. Translation: CAI17720.1.
CR759815, CR938714 Genomic DNA. Translation: CAQ07079.1.
CR938714, CR759815 Genomic DNA. Translation: CAQ08650.1.
BX927139 Genomic DNA. Translation: CAQ10502.1.
CR753819 Genomic DNA. Translation: CAQ10591.1.
CH471081 Genomic DNA. Translation: EAX03357.1.
CCDSiCCDS34390.1. [Q9UIG5-1]
RefSeqiNP_054787.2. NM_014068.2. [Q9UIG5-1]
UniGeneiHs.310958.

Genome annotation databases

EnsembliENST00000259881; ENSP00000259881; ENSG00000204540. [Q9UIG5-1]
ENST00000420214; ENSP00000396568; ENSG00000233439. [Q9UIG5-1]
ENST00000433334; ENSP00000391443; ENSG00000233734.
ENST00000441092; ENSP00000398278; ENSG00000231094. [Q9UIG5-1]
ENST00000448455; ENSP00000389875; ENSG00000235487. [Q9UIG5-1]
GeneIDi170679.
KEGGihsa:170679.
UCSCiuc003nsl.2. human. [Q9UIG5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB031479 mRNA. Translation: BAA88130.1.
AF484418 mRNA. Translation: AAO49375.1.
AF484419 mRNA. Translation: AAO49376.1.
BA000025 Genomic DNA. Translation: BAB63314.1. Sequence problems.
AB088114 Genomic DNA. Translation: BAC54950.1. Sequence problems.
AL662844 Genomic DNA. Translation: CAI18324.1.
AL662867 Genomic DNA. Translation: CAI17720.1.
CR759815, CR938714 Genomic DNA. Translation: CAQ07079.1.
CR938714, CR759815 Genomic DNA. Translation: CAQ08650.1.
BX927139 Genomic DNA. Translation: CAQ10502.1.
CR753819 Genomic DNA. Translation: CAQ10591.1.
CH471081 Genomic DNA. Translation: EAX03357.1.
CCDSiCCDS34390.1. [Q9UIG5-1]
RefSeqiNP_054787.2. NM_014068.2. [Q9UIG5-1]
UniGeneiHs.310958.

3D structure databases

ModBaseiSearch...
MobiDBiSearch...

Polymorphism and mutation databases

BioMutaiPSORS1C1.

Proteomic databases

PaxDbiQ9UIG5.
PRIDEiQ9UIG5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000259881; ENSP00000259881; ENSG00000204540. [Q9UIG5-1]
ENST00000420214; ENSP00000396568; ENSG00000233439. [Q9UIG5-1]
ENST00000433334; ENSP00000391443; ENSG00000233734.
ENST00000441092; ENSP00000398278; ENSG00000231094. [Q9UIG5-1]
ENST00000448455; ENSP00000389875; ENSG00000235487. [Q9UIG5-1]
GeneIDi170679.
KEGGihsa:170679.
UCSCiuc003nsl.2. human. [Q9UIG5-1]

Organism-specific databases

CTDi170679.
GeneCardsiPSORS1C1.
H-InvDBHIX0057977.
HIX0166148.
HIX0166680.
HGNCiHGNC:17202. PSORS1C1.
HPAiHPA045049.
MIMi613525. gene.
neXtProtiNX_Q9UIG5.
PharmGKBiPA33919.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410JGJ2. Eukaryota.
ENOG4111DIC. LUCA.
GeneTreeiENSGT00530000064866.
HOGENOMiHOG000115725.
HOVERGENiHBG053734.
InParanoidiQ9UIG5.
OMAiMTSKEFH.
PhylomeDBiQ9UIG5.
TreeFamiTF341897.

Miscellaneous databases

GenomeRNAii170679.
NextBioi89080.
PROiQ9UIG5.
SOURCEiSearch...

Gene expression databases

BgeeiQ9UIG5.
CleanExiHS_PSORS1C1.
ExpressionAtlasiQ9UIG5. baseline and differential.
GenevisibleiQ9UIG5. HS.

Family and domain databases

InterProiIPR028206. SEEK1.
[Graphical view]
PfamiPF15357. SEEK1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Association analysis using refined microsatellite markers localizes a susceptibility locus for psoriasis vulgaris within a 111kb segment telomeric to the HLA-C gene."
    Oka A., Tamiya G., Tomizawa M., Ota M., Katsuyama Y., Makino S., Shiina T., Yoshitome M., Lizuka M., Sasao Y., Iwashita K., Kawakubo Y., Sugai J., Ozawa A., Ohkido M., Kimura M., Bahram S., Inoko H.
    Hum. Mol. Genet. 8:2165-2170(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT LYS-34.
  2. "Polymorphisms in the SEEK1 and SPR1 genes on 6p21.3 associate with psoriasis in the Swedish population."
    Holm S.J., Carlen L.M., Mallbris L., Staehle-Baeckdahl M., O'Brien K.P.
    Exp. Dermatol. 12:435-444(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY, VARIANTS THR-24; GLN-34; LYS-34; HIS-37 AND LEU-133.
    Tissue: Colon and Skin.
  3. "Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region."
    Shiina S., Tamiya G., Oka A., Inoko H.
    Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "Genome diversity in HLA: a new strategy for detection of genetic polymorphisms in expressed genes within the HLA class III and class I regions."
    Shiina T., Ota M., Katsuyama Y., Hashimoto N., Inoko H.
    Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Entry informationi

Entry nameiPS1C1_HUMAN
AccessioniPrimary (citable) accession number: Q9UIG5
Secondary accession number(s): B0V083
, Q5ST21, Q86WJ8, Q86WJ9, Q96QC3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 21, 2003
Last sequence update: November 4, 2008
Last modified: March 16, 2016
This is version 105 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.