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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

  1. electron carrier activity Source: InterPro
  2. protein disulfide oxidoreductase activity Source: InterPro

GO - Biological processi

  1. auditory receptor cell differentiation Source: Ensembl
  2. cell redox homeostasis Source: InterPro
  3. inner ear receptor cell development Source: UniProtKB
  4. inner ear receptor stereocilium organization Source: UniProtKB
  5. negative regulation of phosphatase activity Source: UniProtKB
  6. post-embryonic organ morphogenesis Source: Ensembl
  7. sensory perception of sound Source: UniProtKB
  8. vestibular receptor cell development Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Hearing

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
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:31673. GRXCR1.

Subcellular locationi

Cell projectionstereocilium By similarity. Cell projectionmicrovillus By similarity. Cell projectionkinocilium By similarity
Note: In the inner ear, localized to stereocilia, apical microvilli of sensory cells and kinocilia.By similarity

GO - Cellular componenti

  1. kinocilium Source: UniProtKB
  2. stereocilium Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 252 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti38 – 381P → L in DFNB25. 1 Publication
VAR_063160
Natural varianti64 – 641G → S in DFNB25. 1 Publication
VAR_063162
Natural varianti138 – 1381R → C in DFNB25. 1 Publication
VAR_063164
Natural varianti153 – 1531F → V in DFNB25. 1 Publication
VAR_063165

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 290290Glutaredoxin domain-containing cysteine-rich protein 1PRO_0000349189Add
BLAST

Proteomic databases

PaxDbiA8MXD5.
PRIDEiA8MXD5.

PTM databases

PhosphoSiteiA8MXD5.

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

BgeeiA8MXD5.
CleanExiHS_GRXCR1.
GenevestigatoriA8MXD5.

Organism-specific databases

HPAiHPA040824.

Interactioni

Protein-protein interaction databases

BioGridi133037. 1 interaction.
IntActiA8MXD5. 1 interaction.
STRINGi9606.ENSP00000382670.

Structurei

3D structure databases

ProteinModelPortaliA8MXD5.
SMRiA8MXD5. Positions 138-228.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini127 – 234108GlutaredoxinPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the GRXCR1 family.Curated
Contains 1 glutaredoxin domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG114644.
GeneTreeiENSGT00530000063827.
HOGENOMiHOG000112811.
HOVERGENiHBG095477.
InParanoidiA8MXD5.
KOiK17479.
OMAiGQQNGHI.
OrthoDBiEOG708W0C.
PhylomeDBiA8MXD5.
TreeFamiTF315372.

Family and domain databases

Gene3Di3.40.30.10. 1 hit.
InterProiIPR002109. Glutaredoxin.
IPR012336. Thioredoxin-like_fold.
[Graphical view]
PfamiPF00462. Glutaredoxin. 1 hit.
[Graphical view]
SUPFAMiSSF52833. SSF52833. 1 hit.
PROSITEiPS51354. GLUTAREDOXIN_2. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti9 – 91E → K.1 Publication
Corresponds to variant rs78136490 [ dbSNP | Ensembl ].
VAR_063159
Natural varianti38 – 381P → L in DFNB25. 1 Publication
VAR_063160
Natural varianti51 – 511G → E.1 Publication
VAR_063161
Natural varianti64 – 641G → S in DFNB25. 1 Publication
VAR_063162
Natural varianti91 – 911G → V.2 Publications
Corresponds to variant rs113203706 [ dbSNP | Ensembl ].
VAR_063163
Natural varianti138 – 1381R → C in DFNB25. 1 Publication
VAR_063164
Natural varianti153 – 1531F → V in DFNB25. 1 Publication
VAR_063165

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.3. human.

Keywords - Coding sequence diversityi

Polymorphism

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.
CCDSiCCDS43225.1.
RefSeqiNP_001073945.1. NM_001080476.2.
UniGeneiHs.162559.

3D structure databases

ProteinModelPortaliA8MXD5.
SMRiA8MXD5. Positions 138-228.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi133037. 1 interaction.
IntActiA8MXD5. 1 interaction.
STRINGi9606.ENSP00000382670.

PTM databases

PhosphoSiteiA8MXD5.

Proteomic databases

PaxDbiA8MXD5.
PRIDEiA8MXD5.

Protocols and materials databases

DNASUi389207.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000399770; ENSP00000382670; ENSG00000215203.
GeneIDi389207.
KEGGihsa:389207.
UCSCiuc003gwt.3. human.

Organism-specific databases

CTDi389207.
GeneCardsiGC04P042895.
HGNCiHGNC:31673. GRXCR1.
HPAiHPA040824.
MIMi613283. gene.
613285. phenotype.
neXtProtiNX_A8MXD5.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA162390253.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG114644.
GeneTreeiENSGT00530000063827.
HOGENOMiHOG000112811.
HOVERGENiHBG095477.
InParanoidiA8MXD5.
KOiK17479.
OMAiGQQNGHI.
OrthoDBiEOG708W0C.
PhylomeDBiA8MXD5.
TreeFamiTF315372.

Miscellaneous databases

GeneWikiiGRXCR1.
GenomeRNAii389207.
NextBioi102713.
PROiA8MXD5.
SOURCEiSearch...

Gene expression databases

BgeeiA8MXD5.
CleanExiHS_GRXCR1.
GenevestigatoriA8MXD5.

Family and domain databases

Gene3Di3.40.30.10. 1 hit.
InterProiIPR002109. Glutaredoxin.
IPR012336. Thioredoxin-like_fold.
[Graphical view]
PfamiPF00462. Glutaredoxin. 1 hit.
[Graphical view]
SUPFAMiSSF52833. SSF52833. 1 hit.
PROSITEiPS51354. GLUTAREDOXIN_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment."
    Schraders M., Lee K., Oostrik J., Huygen P.L., Ali G., Hoefsloot L.H., Veltman J.A., Cremers F.P., Basit S., Ansar M., Cremers C.W., Kunst H.P., Ahmad W., Admiraal R.J., Leal S.M., Kremer H.
    Am. J. Hum. Genet. 86:138-147(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DFNB25 CYS-138, VARIANTS LYS-9 AND VAL-91, TISSUE SPECIFICITY.
  3. Cited for: VARIANTS DFNB25 LEU-38; SER-64 AND VAL-153, VARIANTS GLU-51 AND VAL-91.

Entry informationi

Entry nameiGRCR1_HUMAN
AccessioniPrimary (citable) accession number: A8MXD5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 2, 2008
Last sequence update: December 4, 2007
Last modified: January 7, 2015
This is version 63 of the entry and version 1 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 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

External Data

Dasty 3

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 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.