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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

EuPathDBiHostDB:ENSG00000204540.10.
HGNCiHGNC:17202. PSORS1C1.

Pathology & Biotechi

Organism-specific databases

DisGeNETi170679.
OpenTargetsiENSG00000204540.
PharmGKBiPA33919.

Polymorphism and mutation databases

BioMutaiPSORS1C1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000970571 – 152Psoriasis susceptibility 1 candidate gene 1 proteinAdd BLAST152

Proteomic databases

PaxDbiQ9UIG5.
PRIDEiQ9UIG5.

PTM databases

iPTMnetiQ9UIG5.
PhosphoSitePlusiQ9UIG5.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000204540.
CleanExiHS_PSORS1C1.
ExpressionAtlasiQ9UIG5. baseline and differential.
GenevisibleiQ9UIG5. HS.

Organism-specific databases

HPAiHPA045049.

Interactioni

Protein-protein interaction databases

IntActiQ9UIG5. 1 interactor.
STRINGi9606.ENSP00000259881.

Structurei

3D structure databases

ProteinModelPortaliQ9UIG5.
SMRiQ9UIG5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410JGJ2. Eukaryota.
ENOG4111DIC. LUCA.
GeneTreeiENSGT00530000064866.
HOGENOMiHOG000115725.
HOVERGENiHBG053734.
InParanoidiQ9UIG5.
OMAiPANHFWH.
OrthoDBiEOG091G0R9Q.
PhylomeDBiQ9UIG5.
TreeFamiTF341897.

Family and domain databases

InterProiView protein in InterPro
IPR028206. SEEK1.
PfamiView protein in Pfam
PF15357. SEEK1. 1 hit.

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

Q9UIG5: The sequence BAB63314 differs from that shown. Reason: Erroneous gene model prediction.Curated
Q9UIG5: The sequence BAC54950 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01739124P → T1 PublicationCorresponds to variant dbSNP:rs1265097Ensembl.1
Natural variantiVAR_04708834E → K2 PublicationsCorresponds to variant dbSNP:rs1265096Ensembl.1
Natural variantiVAR_01739234E → Q1 Publication1
Natural variantiVAR_01739337R → H1 PublicationCorresponds to variant dbSNP:rs9263726Ensembl.1
Natural variantiVAR_04708943P → S. Corresponds to variant dbSNP:rs9501057Ensembl.1
Natural variantiVAR_04709066S → C. Corresponds to variant dbSNP:rs2233943Ensembl.1
Natural variantiVAR_017394133P → L1 PublicationCorresponds to variant dbSNP:rs1063646Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0090081 – 56MTCTD…ANHFW → MASRR in isoform 2. 1 PublicationAdd BLAST56

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

Similar proteinsi

Entry informationi

Entry nameiPS1C1_HUMAN
AccessioniPrimary (citable) accession number: Q9UIG5
Secondary accession number(s): B0V083
, Q5ST21, Q86WJ8, Q86WJ9, Q96QC3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 21, 2003
Last sequence update: November 4, 2008
Last modified: September 27, 2017
This is version 115 of the entry and version 2 of the sequence. See 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