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Protein

Glutaredoxin domain-containing cysteine-rich protein 1

Gene

GRXCR1

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

Functioni

May play a role in actin filament architecture in developing stereocilia of sensory cells.By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processHearing

Names & Taxonomyi

Protein namesi
Recommended name:
Glutaredoxin domain-containing cysteine-rich protein 1
Gene namesi
Name:GRXCR1
Synonyms:DFNB25
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000215203.2.
HGNCiHGNC:31673. GRXCR1.

Subcellular locationi

Keywords - Cellular componenti

Cell projection, Cilium

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 25 (DFNB25)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural deafness characterized by moderate to severe or profound hearing loss which is progressive in some individuals but not in others. Speech development is impaired in some but not all affected individuals, and vestibular dysfunction is observed in some affected individuals. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
See also OMIM:613285
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06316038P → L in DFNB25. 1 PublicationCorresponds to variant dbSNP:rs367784906Ensembl.1
Natural variantiVAR_06316264G → S in DFNB25. 1 PublicationCorresponds to variant dbSNP:rs370551174Ensembl.1
Natural variantiVAR_063164138R → C in DFNB25. 1 PublicationCorresponds to variant dbSNP:rs267606856Ensembl.1
Natural variantiVAR_063165153F → V in DFNB25. 1 PublicationCorresponds to variant dbSNP:rs770874273Ensembl.1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNETi389207.
MalaCardsiGRXCR1.
MIMi613285. phenotype.
OpenTargetsiENSG00000215203.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA162390253.

Polymorphism and mutation databases

BioMutaiGRXCR1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003491891 – 290Glutaredoxin domain-containing cysteine-rich protein 1Add BLAST290

Proteomic databases

PaxDbiA8MXD5.
PRIDEiA8MXD5.

PTM databases

iPTMnetiA8MXD5.
PhosphoSitePlusiA8MXD5.

Expressioni

Tissue specificityi

Expressed at low levels in adult lung, brain and duodenum with moderate levels in testis. Highly expressed in fetal cochlea.1 Publication

Gene expression databases

BgeeiENSG00000215203.
CleanExiHS_GRXCR1.

Organism-specific databases

HPAiHPA040824.

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi133037. 1 interactor.
IntActiA8MXD5. 7 interactors.
STRINGi9606.ENSP00000382670.

Structurei

3D structure databases

ProteinModelPortaliA8MXD5.
SMRiA8MXD5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini127 – 234GlutaredoxinPROSITE-ProRule annotationAdd BLAST108

Sequence similaritiesi

Belongs to the GRXCR1 family.Curated

Phylogenomic databases

eggNOGiKOG2824. Eukaryota.
ENOG4111HAI. LUCA.
GeneTreeiENSGT00530000063827.
HOGENOMiHOG000112811.
HOVERGENiHBG095477.
InParanoidiA8MXD5.
KOiK17479.
OMAiRGVKHKV.
OrthoDBiEOG091G0JWE.
PhylomeDBiA8MXD5.
TreeFamiTF315372.

Family and domain databases

InterProiView protein in InterPro
IPR002109. Glutaredoxin.
IPR036249. Thioredoxin-like_sf.
PfamiView protein in Pfam
PF00462. Glutaredoxin. 1 hit.
SUPFAMiSSF52833. SSF52833. 1 hit.
PROSITEiView protein in PROSITE
PS51354. GLUTAREDOXIN_2. 1 hit.

Sequencei

Sequence statusi: Complete.

A8MXD5-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MLKREMKPES DRPRKVRFRI ASSHSGRVLK EVYEDGQPSG SLDSECASIC
60 70 80 90 100
GIDGLGDSDG QQNGHIESEG DENENDQDSL LVLARAASEK GFGTRRVNIL
110 120 130 140 150
SKNGTVRGVK YKVSAGQALF NNLTKVLQQP STDLEFDRVV IYTTCLRVVR
160 170 180 190 200
TTFERCELVR KIFQNHRVKF EEKNIALNGE YGKELDERCR RVSEAPSLPV
210 220 230 240 250
VFIDGHYLGG AEKILSMNES GELQDILTKI ERVQHPHECP SCGGFGFLPC
260 270 280 290
SVCHGSKMSM FRNCFTDSFK ALKCTACNEN GLQRCKNCAG
Length:290
Mass (Da):32,294
Last modified:December 4, 2007 - v1
Checksum:i876595DDA9B9194B
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0631599E → K1 PublicationCorresponds to variant dbSNP:rs78136490Ensembl.1
Natural variantiVAR_06316038P → L in DFNB25. 1 PublicationCorresponds to variant dbSNP:rs367784906Ensembl.1
Natural variantiVAR_06316151G → E1 PublicationCorresponds to variant dbSNP:rs727505186Ensembl.1
Natural variantiVAR_06316264G → S in DFNB25. 1 PublicationCorresponds to variant dbSNP:rs370551174Ensembl.1
Natural variantiVAR_06316391G → V2 PublicationsCorresponds to variant dbSNP:rs113203706Ensembl.1
Natural variantiVAR_063164138R → C in DFNB25. 1 PublicationCorresponds to variant dbSNP:rs267606856Ensembl.1
Natural variantiVAR_063165153F → V in DFNB25. 1 PublicationCorresponds to variant dbSNP:rs770874273Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC098861 Genomic DNA. No translation available.
AC108035 Genomic DNA. No translation available.
CCDSiCCDS43225.1.
RefSeqiNP_001073945.1. NM_001080476.2.
UniGeneiHs.162559.

Genome annotation databases

EnsembliENST00000399770; ENSP00000382670; ENSG00000215203.
GeneIDi389207.
KEGGihsa:389207.
UCSCiuc003gwt.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiGRCR1_HUMAN
AccessioniPrimary (citable) accession number: A8MXD5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 2, 2008
Last sequence update: December 4, 2007
Last modified: October 25, 2017
This is version 86 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 4
    Human chromosome 4: 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
  5. SIMILARITY comments
    Index of protein domains and families