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A8MXD5 (GRCR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 60. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Glutaredoxin domain-containing cysteine-rich protein 1
Gene names
Name:GRXCR1
Synonyms:DFNB25
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length290 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

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.

Tissue specificity

Expressed at low levels in adult lung, brain and duodenum with moderate levels in testis. Highly expressed in fetal cochlea. Ref.2

Involvement in disease

Deafness, autosomal recessive, 25 (DFNB25) [MIM:613285]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2 Ref.3

Sequence similarities

Belongs to the GRXCR1 family.

Contains 1 glutaredoxin domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 290290Glutaredoxin domain-containing cysteine-rich protein 1
PRO_0000349189

Regions

Domain127 – 234108Glutaredoxin

Natural variations

Natural variant91E → K. Ref.2
Corresponds to variant rs78136490 [ dbSNP | Ensembl ].
VAR_063159
Natural variant381P → L in DFNB25. Ref.3
VAR_063160
Natural variant511G → E. Ref.3
VAR_063161
Natural variant641G → S in DFNB25. Ref.3
VAR_063162
Natural variant911G → V. Ref.2 Ref.3
Corresponds to variant rs113203706 [ dbSNP | Ensembl ].
VAR_063163
Natural variant1381R → C in DFNB25. Ref.2
VAR_063164
Natural variant1531F → V in DFNB25. Ref.3
VAR_063165

Sequences

Sequence LengthMass (Da)Tools
A8MXD5 [UniParc].

Last modified December 4, 2007. Version 1.
Checksum: 876595DDA9B9194B

FASTA29032,294
        10         20         30         40         50         60 
MLKREMKPES DRPRKVRFRI ASSHSGRVLK EVYEDGQPSG SLDSECASIC GIDGLGDSDG 

        70         80         90        100        110        120 
QQNGHIESEG DENENDQDSL LVLARAASEK GFGTRRVNIL SKNGTVRGVK YKVSAGQALF 

       130        140        150        160        170        180 
NNLTKVLQQP STDLEFDRVV IYTTCLRVVR TTFERCELVR KIFQNHRVKF EEKNIALNGE 

       190        200        210        220        230        240 
YGKELDERCR RVSEAPSLPV VFIDGHYLGG AEKILSMNES GELQDILTKI ERVQHPHECP 

       250        260        270        280        290 
SCGGFGFLPC SVCHGSKMSM FRNCFTDSFK ALKCTACNEN GLQRCKNCAG 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse."
Odeh H., Hunker K.L., Belyantseva I.A., Azaiez H., Avenarius M.R., Zheng L., Peters L.M., Gagnon L.H., Hagiwara N., Skynner M.J., Brilliant M.H., Allen N.D., Riazuddin S., Johnson K.R., Raphael Y., Najmabadi H., Friedman T.B., Bartles J.R., Smith R.J., Kohrman D.C.
Am. J. Hum. Genet. 86:148-160(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS DFNB25 LEU-38; SER-64 AND VAL-153, VARIANTS GLU-51 AND VAL-91.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC098861 Genomic DNA. No translation available.
AC108035 Genomic DNA. No translation available.
CCDSCCDS43225.1.
RefSeqNP_001073945.1. NM_001080476.2.
UniGeneHs.162559.

3D structure databases

ProteinModelPortalA8MXD5.
SMRA8MXD5. Positions 136-228.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid133037. 1 interaction.
IntActA8MXD5. 1 interaction.
STRING9606.ENSP00000382670.

PTM databases

PhosphoSiteA8MXD5.

Proteomic databases

PaxDbA8MXD5.
PRIDEA8MXD5.

Protocols and materials databases

DNASU389207.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000399770; ENSP00000382670; ENSG00000215203.
GeneID389207.
KEGGhsa:389207.
UCSCuc003gwt.3. human.

Organism-specific databases

CTD389207.
GeneCardsGC04P042895.
HGNCHGNC:31673. GRXCR1.
HPAHPA040824.
MIM613283. gene.
613285. phenotype.
neXtProtNX_A8MXD5.
Orphanet90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
PharmGKBPA162390253.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG114644.
HOGENOMHOG000112811.
HOVERGENHBG095477.
InParanoidA8MXD5.
KOK17479.
OMAGQQNGHI.
OrthoDBEOG708W0C.
PhylomeDBA8MXD5.
TreeFamTF315372.

Gene expression databases

BgeeA8MXD5.
CleanExHS_GRXCR1.
GenevestigatorA8MXD5.

Family and domain databases

Gene3D3.40.30.10. 1 hit.
InterProIPR002109. Glutaredoxin.
IPR012336. Thioredoxin-like_fold.
[Graphical view]
PfamPF00462. Glutaredoxin. 1 hit.
[Graphical view]
SUPFAMSSF52833. SSF52833. 1 hit.
PROSITEPS51354. GLUTAREDOXIN_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGRXCR1.
GenomeRNAi389207.
NextBio102713.
PROA8MXD5.
SOURCESearch...

Entry information

Entry nameGRCR1_HUMAN
AccessionPrimary (citable) accession number: A8MXD5
Entry history
Integrated into UniProtKB/Swiss-Prot: September 2, 2008
Last sequence update: December 4, 2007
Last modified: July 9, 2014
This is version 60 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM