GRCR1_MOUSE
ID GRCR1_MOUSE Reviewed; 290 AA.
AC Q50H32;
DT 02-SEP-2008, integrated into UniProtKB/Swiss-Prot.
DT 07-JUN-2005, sequence version 1.
DT 03-AUG-2022, entry version 110.
DE RecName: Full=Glutaredoxin domain-containing cysteine-rich protein 1;
GN Name=Grxcr1; Synonyms=pi;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, TISSUE
RP SPECIFICITY, AND DISEASE.
RC STRAIN=C57BL/6J;
RX PubMed=20137774; DOI=10.1016/j.ajhg.2010.01.016;
RA Odeh H., Hunker K.L., Belyantseva I.A., Azaiez H., Avenarius M.R.,
RA Zheng L., Peters L.M., Gagnon L.H., Hagiwara N., Skynner M.J.,
RA Brilliant M.H., Allen N.D., Riazuddin S., Johnson K.R., Raphael Y.,
RA Najmabadi H., Friedman T.B., Bartles J.R., Smith R.J., Kohrman D.C.;
RT "Mutations in Grxcr1 are the basis for inner ear dysfunction in the
RT pirouette mouse.";
RL Am. J. Hum. Genet. 86:148-160(2010).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP DISEASE.
RX PubMed=11276175; DOI=10.1023/a:1026515619443;
RA Beyer L.A., Odeh H., Probst F.J., Lambert E.H., Dolan D.F., Camper S.A.,
RA Kohrman D.C., Raphael Y.;
RT "Hair cells in the inner ear of the pirouette and shaker 2 mutant mice.";
RL J. Neurocytol. 29:227-240(2000).
CC -!- FUNCTION: May play a role in actin filament architecture in developing
CC stereocilia of sensory cells. {ECO:0000269|PubMed:20137774}.
CC -!- SUBCELLULAR LOCATION: Cell projection, stereocilium
CC {ECO:0000269|PubMed:20137774}. Cell projection, microvillus
CC {ECO:0000269|PubMed:20137774}. Cell projection, kinocilium
CC {ECO:0000269|PubMed:20137774}. Note=In the inner ear, localized to
CC stereocilia, apical microvilli of sensory cells and kinocilia.
CC -!- TISSUE SPECIFICITY: In the inner ear, expressed predominantly in
CC sensory hair cells and their stereocilia bundles with higher levels in
CC outer hair cells (OHC) at P1 and in inner hair cells (IHC) at P5. At
CC P1, expression is prominent in each row of stereocilia within bundles
CC including immature shorter stereocilia. Expression is also observed in
CC apical microvilli of sensory cells at P1 and in kinocilia at P1 and P5.
CC In the adult, expression is localized throughout the length of the
CC stereocilia of both OHC and IHC (at protein level).
CC {ECO:0000269|PubMed:20137774}.
CC -!- DISEASE: Note=Defects in Grxcr1 are the cause of the pirouette (pi)
CC phenotype which is characterized by vestibular defects and profound
CC deafness with affected mice displaying abnormally thin and slightly
CC shortened sterocilia. {ECO:0000269|PubMed:11276175,
CC ECO:0000269|PubMed:20137774}.
CC -!- SIMILARITY: Belongs to the GRXCR1 family. {ECO:0000305}.
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DR EMBL; AY616753; AAU84851.1; -; mRNA.
DR EMBL; BC147268; AAI47269.1; -; mRNA.
DR EMBL; BC147269; AAI47270.1; -; mRNA.
DR CCDS; CCDS19319.2; -.
DR RefSeq; NP_001018019.2; NM_001018019.2.
DR AlphaFoldDB; Q50H32; -.
DR STRING; 10090.ENSMUSP00000092305; -.
DR PhosphoSitePlus; Q50H32; -.
DR PaxDb; Q50H32; -.
DR PRIDE; Q50H32; -.
DR DNASU; 433899; -.
DR Ensembl; ENSMUST00000094715; ENSMUSP00000092305; ENSMUSG00000068082.
DR GeneID; 433899; -.
DR KEGG; mmu:433899; -.
DR CTD; 389207; -.
DR MGI; MGI:3577767; Grxcr1.
DR eggNOG; KOG2824; Eukaryota.
DR GeneTree; ENSGT00940000159219; -.
DR InParanoid; Q50H32; -.
DR OrthoDB; 1046721at2759; -.
DR PhylomeDB; Q50H32; -.
DR BioGRID-ORCS; 433899; 0 hits in 72 CRISPR screens.
DR PRO; PR:Q50H32; -.
DR Proteomes; UP000000589; Chromosome 5.
DR RNAct; Q50H32; protein.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0060091; C:kinocilium; IDA:UniProtKB.
DR GO; GO:0005902; C:microvillus; IEA:UniProtKB-SubCell.
DR GO; GO:0032420; C:stereocilium; IDA:UniProtKB.
DR GO; GO:0097573; F:glutathione oxidoreductase activity; IEA:InterPro.
DR GO; GO:0042491; P:inner ear auditory receptor cell differentiation; IMP:MGI.
DR GO; GO:0048839; P:inner ear development; IMP:MGI.
DR GO; GO:0060119; P:inner ear receptor cell development; IMP:UniProtKB.
DR GO; GO:0060122; P:inner ear receptor cell stereocilium organization; IMP:UniProtKB.
DR GO; GO:0048563; P:post-embryonic animal organ morphogenesis; IMP:MGI.
DR GO; GO:0007605; P:sensory perception of sound; IMP:UniProtKB.
DR GO; GO:0060118; P:vestibular receptor cell development; IMP:UniProtKB.
DR InterPro; IPR002109; Glutaredoxin.
DR InterPro; IPR042797; GRXCR1.
DR InterPro; IPR036249; Thioredoxin-like_sf.
DR PANTHER; PTHR46990; PTHR46990; 1.
DR Pfam; PF00462; Glutaredoxin; 1.
DR SUPFAM; SSF52833; SSF52833; 1.
DR PROSITE; PS51354; GLUTAREDOXIN_2; 1.
PE 1: Evidence at protein level;
KW Cell projection; Cilium; Deafness; Hearing; Reference proteome.
FT CHAIN 1..290
FT /note="Glutaredoxin domain-containing cysteine-rich protein
FT 1"
FT /id="PRO_0000349190"
FT DOMAIN 127..234
FT /note="Glutaredoxin"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00686"
SQ 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
