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Glutaredoxin domain-containing cysteine-rich protein 1

 GRCR1_MOUSE             Reviewed;         290 AA.
Q50H32;
02-SEP-2008, integrated into UniProtKB/Swiss-Prot.
07-JUN-2005, sequence version 1.
25-OCT-2017, entry version 92.
RecName: Full=Glutaredoxin domain-containing cysteine-rich protein 1;
Name=Grxcr1; Synonyms=pi;
Mus musculus (Mouse).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
Muroidea; Muridae; Murinae; Mus; Mus.
NCBI_TaxID=10090;
[1]
NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, TISSUE
SPECIFICITY, AND DISEASE.
STRAIN=C57BL/6J;
PubMed=20137774; DOI=10.1016/j.ajhg.2010.01.016;
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.;
"Mutations in Grxcr1 are the basis for inner ear dysfunction in the
pirouette mouse.";
Am. J. Hum. Genet. 86:148-160(2010).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[3]
DISEASE.
PubMed=11276175; DOI=10.1023/A:1026515619443;
Beyer L.A., Odeh H., Probst F.J., Lambert E.H., Dolan D.F.,
Camper S.A., Kohrman D.C., Raphael Y.;
"Hair cells in the inner ear of the pirouette and shaker 2 mutant
mice.";
J. Neurocytol. 29:227-240(2000).
-!- FUNCTION: May play a role in actin filament architecture in
developing stereocilia of sensory cells.
{ECO:0000269|PubMed:20137774}.
-!- SUBCELLULAR LOCATION: Cell projection, stereocilium
{ECO:0000269|PubMed:20137774}. Cell projection, microvillus
{ECO:0000269|PubMed:20137774}. Cell projection, kinocilium
{ECO:0000269|PubMed:20137774}. Note=In the inner ear, localized to
stereocilia, apical microvilli of sensory cells and kinocilia.
-!- TISSUE SPECIFICITY: In the inner ear, expressed predominantly in
sensory hair cells and their stereocilia bundles with higher
levels in outer hair cells (OHC) at P1 and in inner hair cells
(IHC) at P5. At P1, expression is prominent in each row of
stereocilia within bundles including immature shorter stereocilia.
Expression is also observed in apical microvilli of sensory cells
at P1 and in kinocilia at P1 and P5. In the adult, expression is
localized throughout the length of the stereocilia of both OHC and
IHC (at protein level). {ECO:0000269|PubMed:20137774}.
-!- DISEASE: Note=Defects in Grxcr1 are the cause of the pirouette
(pi) phenotype which is characterized by vestibular defects and
profound deafness with affected mice displaying abnormally thin
and slightly shortened sterocilia. {ECO:0000269|PubMed:11276175,
ECO:0000269|PubMed:20137774}.
-!- SIMILARITY: Belongs to the GRXCR1 family. {ECO:0000305}.
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EMBL; AY616753; AAU84851.1; -; mRNA.
EMBL; BC147268; AAI47269.1; -; mRNA.
EMBL; BC147269; AAI47270.1; -; mRNA.
RefSeq; NP_001018019.2; NM_001018019.2.
UniGene; Mm.332422; -.
ProteinModelPortal; Q50H32; -.
SMR; Q50H32; -.
STRING; 10090.ENSMUSP00000092305; -.
PhosphoSitePlus; Q50H32; -.
PaxDb; Q50H32; -.
PRIDE; Q50H32; -.
GeneID; 433899; -.
KEGG; mmu:433899; -.
CTD; 389207; -.
MGI; MGI:3577767; Grxcr1.
eggNOG; KOG2824; Eukaryota.
eggNOG; ENOG4111HAI; LUCA.
HOGENOM; HOG000112811; -.
HOVERGEN; HBG095477; -.
InParanoid; Q50H32; -.
KO; K17479; -.
PhylomeDB; Q50H32; -.
PRO; PR:Q50H32; -.
Proteomes; UP000000589; Unplaced.
GO; GO:0060091; C:kinocilium; IDA:UniProtKB.
GO; GO:0005902; C:microvillus; IEA:UniProtKB-SubCell.
GO; GO:0032420; C:stereocilium; IDA:UniProtKB.
GO; GO:0009055; F:electron carrier activity; IEA:InterPro.
GO; GO:0015035; F:protein disulfide oxidoreductase activity; IEA:InterPro.
GO; GO:0042491; P:auditory receptor cell differentiation; IMP:MGI.
GO; GO:0045454; P:cell redox homeostasis; IEA:InterPro.
GO; GO:0048839; P:inner ear development; IMP:MGI.
GO; GO:0060119; P:inner ear receptor cell development; IMP:UniProtKB.
GO; GO:0060122; P:inner ear receptor stereocilium organization; IMP:UniProtKB.
GO; GO:0010923; P:negative regulation of phosphatase activity; ISS:UniProtKB.
GO; GO:0048563; P:post-embryonic animal organ morphogenesis; IMP:MGI.
GO; GO:0007605; P:sensory perception of sound; IMP:UniProtKB.
GO; GO:0060118; P:vestibular receptor cell development; IMP:UniProtKB.
InterPro; IPR002109; Glutaredoxin.
InterPro; IPR036249; Thioredoxin-like_sf.
Pfam; PF00462; Glutaredoxin; 1.
SUPFAM; SSF52833; SSF52833; 1.
PROSITE; PS51354; GLUTAREDOXIN_2; 1.
1: Evidence at protein level;
Cell projection; Cilium; Complete proteome; Deafness; Hearing;
Reference proteome.
CHAIN 1 290 Glutaredoxin domain-containing cysteine-
rich protein 1.
/FTId=PRO_0000349190.
DOMAIN 127 234 Glutaredoxin. {ECO:0000255|PROSITE-
ProRule:PRU00686}.
SEQUENCE 290 AA; 32402 MW; 410ABE24FA7D27B9 CRC64;
MLRRETKPES DRPRKVRFRI ASSHSGRVLK EVYEDGQAPG SLDSECASIC AIDGLSDSEG
QQNGHIGSED NEQEKDQDNL LVLARTASEK AFGTRRVNIL SKNGTVRGVK YKVSAGQALF
NNLTKVLQQP SADLEFDRVV IYTTCLRVVR TTFERCELVR KIFQNHRVKF EEKNIALNGD
YGKELDERCR RVSEAPSLPV VFIDGHYLGG AEKILSMNES GELQDLLTKI ERVQHPHECP
SCGGFGFLPC SVCHGSKMSV FRNCFTDAFK ALKCTACNEN GLQRCKNCTC


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