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Protein

Disrupted in renal carcinoma protein 1

Gene

DIRC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Disrupted in renal carcinoma protein 1
Alternative name(s):
Disrupted in renal cancer protein
Gene namesi
Name:DIRC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:15760. DIRC1.

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving DIRC1 is associated with familial clear cell renal carcinoma (PubMed:11587072). Translocation t(2;3)(q33;q21) (PubMed:11587072).1 Publication

Organism-specific databases

DisGeNETi116093.
OpenTargetsiENSG00000174325.
PharmGKBiPA27340.

Polymorphism and mutation databases

BioMutaiDIRC1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000799121 – 104Disrupted in renal carcinoma protein 1Add BLAST104

Proteomic databases

PaxDbiQ969H9.
PRIDEiQ969H9.

Expressioni

Tissue specificityi

Expressed at low steady-state level in adult placenta, testis, ovary, prostate, fetal kidney, spleen and skeletal muscle.1 Publication

Gene expression databases

BgeeiENSG00000174325.
CleanExiHS_DIRC1.
GenevisibleiQ969H9. HS.

Organism-specific databases

HPAiHPA056566.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000307860.

Structurei

3D structure databases

ProteinModelPortaliQ969H9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410KCM8. Eukaryota.
ENOG4110NUI. LUCA.
GeneTreeiENSGT00390000004165.
HOGENOMiHOG000112216.
InParanoidiQ969H9.
OMAiPVSCYLP.
OrthoDBiEOG091G0YCS.

Sequencei

Sequence statusi: Complete.

Q969H9-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPEAHMQPAK LQTSLPTTDH GSKKPVSCYL PPLSNAHPMC IEVQNAQNCS
60 70 80 90 100
SAAATLEPSI ISDTCFYKPI TKDQLSSRSE LNTVRLKCLN SLRGWKILNQ

LSLT
Length:104
Mass (Da):11,440
Last modified:December 1, 2001 - v1
Checksum:iDA009FAA807CB5C0
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02254951S → A1 PublicationCorresponds to variant dbSNP:rs72902678Ensembl.1
Natural variantiVAR_06164192L → S. Corresponds to variant dbSNP:rs58846152Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY039011 mRNA. Translation: AAK83469.1.
AY039013 Genomic DNA. Translation: AAK83468.1.
AC079613 Genomic DNA. Translation: AAY15021.1.
BC125137 mRNA. Translation: AAI25138.1.
CCDSiCCDS2296.1.
RefSeqiNP_443184.1. NM_052952.2.
XP_016858770.1. XM_017003281.1.
UniGeneiHs.470892.

Genome annotation databases

EnsembliENST00000308100; ENSP00000307860; ENSG00000174325.
GeneIDi116093.
KEGGihsa:116093.
UCSCiuc002uqi.2. human.

Keywords - Coding sequence diversityi

Chromosomal rearrangement, Polymorphism

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.

Entry informationi

Entry nameiDIRC1_HUMAN
AccessioniPrimary (citable) accession number: Q969H9
Secondary accession number(s): Q08AK1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 21, 2005
Last sequence update: December 1, 2001
Last modified: June 7, 2017
This is version 89 of the entry and version 1 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 2
    Human chromosome 2: 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