UniProtKB - A8MXD5 (GRCR1_HUMAN)
Protein
Glutaredoxin domain-containing cysteine-rich protein 1
Gene
GRXCR1
Organism
Homo sapiens (Human)
Status
Functioni
May play a role in actin filament architecture in developing stereocilia of sensory cells.By similarity
GO - Molecular functioni
- protein disulfide oxidoreductase activity Source: InterPro
GO - Biological processi
- inner ear receptor cell development Source: UniProtKB
- inner ear receptor cell stereocilium organization Source: UniProtKB
- negative regulation of phosphatase activity Source: UniProtKB
- sensory perception of sound Source: UniProtKB
- vestibular receptor cell development Source: UniProtKB
Keywordsi
Biological process | Hearing |
Enzyme and pathway databases
PathwayCommonsi | A8MXD5 |
Names & Taxonomyi
Protein namesi | Recommended name: Glutaredoxin domain-containing cysteine-rich protein 1 |
Gene namesi | Name:GRXCR1 Synonyms:DFNB25 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:31673, GRXCR1 |
MIMi | 613283, gene |
neXtProti | NX_A8MXD5 |
VEuPathDBi | HostDB:ENSG00000215203.2 |
Subcellular locationi
Other locations
- stereocilium By similarity
- microvillus By similarity
- kinocilium By similarity
Note: In the inner ear, localized to stereocilia, apical microvilli of sensory cells and kinocilia.By similarity
Other locations
- kinocilium Source: UniProtKB
- microvillus Source: UniProtKB-SubCell
- stereocilium Source: UniProtKB
Keywords - Cellular componenti
Cell projection, CiliumPathology & Biotechi
Involvement in diseasei
Deafness, autosomal recessive, 25 (DFNB25)2 Publications
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063160 | 38 | P → L in DFNB25. 1 PublicationCorresponds to variant dbSNP:rs367784906EnsemblClinVar. | 1 | |
Natural variantiVAR_063162 | 64 | G → S in DFNB25. 1 PublicationCorresponds to variant dbSNP:rs370551174Ensembl. | 1 | |
Natural variantiVAR_063164 | 138 | R → C in DFNB25. 1 PublicationCorresponds to variant dbSNP:rs267606856EnsemblClinVar. | 1 | |
Natural variantiVAR_063165 | 153 | F → V in DFNB25. 1 PublicationCorresponds to variant dbSNP:rs770874273Ensembl. | 1 |
Keywords - Diseasei
Deafness, Disease variant, Non-syndromic deafnessOrganism-specific databases
DisGeNETi | 389207 |
MalaCardsi | GRXCR1 |
MIMi | 613285, phenotype |
OpenTargetsi | ENSG00000215203 |
Orphaneti | 90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB |
PharmGKBi | PA162390253 |
Miscellaneous databases
Pharosi | A8MXD5, Tdark |
Genetic variation databases
BioMutai | GRXCR1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000349189 | 1 – 290 | Glutaredoxin domain-containing cysteine-rich protein 1Add BLAST | 290 |
Proteomic databases
PaxDbi | A8MXD5 |
PRIDEi | A8MXD5 |
ProteomicsDBi | 2314 |
PTM databases
iPTMneti | A8MXD5 |
PhosphoSitePlusi | A8MXD5 |
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
Bgeei | ENSG00000215203, Expressed in prostate gland and 14 other tissues |
Organism-specific databases
HPAi | ENSG00000215203, Tissue enriched (seminal) |
Interactioni
Binary interactionsi
Hide detailsA8MXD5
Protein-protein interaction databases
BioGRIDi | 133037, 10 interactors |
IntActi | A8MXD5, 9 interactors |
STRINGi | 9606.ENSP00000382670 |
Miscellaneous databases
RNActi | A8MXD5, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 127 – 234 | GlutaredoxinPROSITE-ProRule annotationAdd BLAST | 108 |
Sequence similaritiesi
Belongs to the GRXCR1 family.Curated
Phylogenomic databases
eggNOGi | KOG2824, Eukaryota |
GeneTreei | ENSGT00940000159219 |
HOGENOMi | CLU_067117_0_0_1 |
InParanoidi | A8MXD5 |
OMAi | NGLQRCR |
OrthoDBi | 1046721at2759 |
PhylomeDBi | A8MXD5 |
TreeFami | TF315372 |
Family and domain databases
Gene3Di | 3.40.30.10, 1 hit |
InterProi | View protein in InterPro IPR002109, Glutaredoxin IPR042797, GRXCR1 IPR036249, Thioredoxin-like_sf |
PANTHERi | PTHR46990, PTHR46990, 1 hit |
Pfami | View protein in Pfam PF00462, Glutaredoxin, 1 hit |
SUPFAMi | SSF52833, SSF52833, 1 hit |
PROSITEi | View protein in PROSITE PS51354, GLUTAREDOXIN_2, 1 hit |
i Sequence
Sequence statusi: Complete.
A8MXD5-1 [UniParc]FASTAAdd to basket
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
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063159 | 9 | E → K1 PublicationCorresponds to variant dbSNP:rs78136490EnsemblClinVar. | 1 | |
Natural variantiVAR_063160 | 38 | P → L in DFNB25. 1 PublicationCorresponds to variant dbSNP:rs367784906EnsemblClinVar. | 1 | |
Natural variantiVAR_063161 | 51 | G → E1 PublicationCorresponds to variant dbSNP:rs727505186EnsemblClinVar. | 1 | |
Natural variantiVAR_063162 | 64 | G → S in DFNB25. 1 PublicationCorresponds to variant dbSNP:rs370551174Ensembl. | 1 | |
Natural variantiVAR_063163 | 91 | G → V2 PublicationsCorresponds to variant dbSNP:rs113203706EnsemblClinVar. | 1 | |
Natural variantiVAR_063164 | 138 | R → C in DFNB25. 1 PublicationCorresponds to variant dbSNP:rs267606856EnsemblClinVar. | 1 | |
Natural variantiVAR_063165 | 153 | F → 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. |
CCDSi | CCDS43225.1 |
RefSeqi | NP_001073945.1, NM_001080476.2 |
Genome annotation databases
Ensembli | ENST00000399770; ENSP00000382670; ENSG00000215203 |
GeneIDi | 389207 |
KEGGi | hsa:389207 |
UCSCi | uc003gwt.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AC098861 Genomic DNA No translation available. AC108035 Genomic DNA No translation available. |
CCDSi | CCDS43225.1 |
RefSeqi | NP_001073945.1, NM_001080476.2 |
3D structure databases
SMRi | A8MXD5 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 133037, 10 interactors |
IntActi | A8MXD5, 9 interactors |
STRINGi | 9606.ENSP00000382670 |
PTM databases
iPTMneti | A8MXD5 |
PhosphoSitePlusi | A8MXD5 |
Genetic variation databases
BioMutai | GRXCR1 |
Proteomic databases
PaxDbi | A8MXD5 |
PRIDEi | A8MXD5 |
ProteomicsDBi | 2314 |
Protocols and materials databases
Antibodypediai | 51684, 49 antibodies |
DNASUi | 389207 |
Genome annotation databases
Ensembli | ENST00000399770; ENSP00000382670; ENSG00000215203 |
GeneIDi | 389207 |
KEGGi | hsa:389207 |
UCSCi | uc003gwt.4, human |
Organism-specific databases
CTDi | 389207 |
DisGeNETi | 389207 |
GeneCardsi | GRXCR1 |
HGNCi | HGNC:31673, GRXCR1 |
HPAi | ENSG00000215203, Tissue enriched (seminal) |
MalaCardsi | GRXCR1 |
MIMi | 613283, gene 613285, phenotype |
neXtProti | NX_A8MXD5 |
OpenTargetsi | ENSG00000215203 |
Orphaneti | 90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB |
PharmGKBi | PA162390253 |
VEuPathDBi | HostDB:ENSG00000215203.2 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2824, Eukaryota |
GeneTreei | ENSGT00940000159219 |
HOGENOMi | CLU_067117_0_0_1 |
InParanoidi | A8MXD5 |
OMAi | NGLQRCR |
OrthoDBi | 1046721at2759 |
PhylomeDBi | A8MXD5 |
TreeFami | TF315372 |
Enzyme and pathway databases
PathwayCommonsi | A8MXD5 |
Miscellaneous databases
BioGRID-ORCSi | 389207, 0 hits in 982 CRISPR screens |
ChiTaRSi | GRXCR1, human |
GeneWikii | GRXCR1 |
GenomeRNAii | 389207 |
Pharosi | A8MXD5, Tdark |
PROi | PR:A8MXD5 |
RNActi | A8MXD5, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000215203, Expressed in prostate gland and 14 other tissues |
Family and domain databases
Gene3Di | 3.40.30.10, 1 hit |
InterProi | View protein in InterPro IPR002109, Glutaredoxin IPR042797, GRXCR1 IPR036249, Thioredoxin-like_sf |
PANTHERi | PTHR46990, PTHR46990, 1 hit |
Pfami | View protein in Pfam PF00462, Glutaredoxin, 1 hit |
SUPFAMi | SSF52833, SSF52833, 1 hit |
PROSITEi | View protein in PROSITE PS51354, GLUTAREDOXIN_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | GRCR1_HUMAN | |
Accessioni | A8MXD5Primary (citable) accession number: A8MXD5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 2, 2008 |
Last sequence update: | December 4, 2007 | |
Last modified: | April 7, 2021 | |
This is version 110 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 4
Human chromosome 4: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families