A8MXD5 (GRCR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Glutaredoxin domain-containing cysteine-rich protein 1

Gene names

Name:	GRXCR1
Synonyms:	DFNB25

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	290 AA.
Sequence status	Complete.
Protein existence	Evidence 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 projection › stereocilium By similarity. Cell projection › microvillus By similarity. Cell projection › kinocilium 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.

Ontologies

Keywords
Biological process	Hearing
Cellular component	Cell projection Cilium
Coding sequence diversity	Polymorphism
Disease	Deafness Disease mutation Non-syndromic deafness
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	auditory receptor cell differentiation Inferred from electronic annotation. Source: Compara cell redox homeostasis Inferred from electronic annotation. Source: InterPro inner ear receptor stereocilium organization Inferred from sequence or structural similarity. Source: UniProtKB negative regulation of phosphatase activity Inferred from direct assay PubMed 19389623. Source: UniProtKB post-embryonic organ morphogenesis Inferred from electronic annotation. Source: Compara sensory perception of sound Inferred from sequence or structural similarity. Source: UniProtKB vestibular receptor cell development Inferred from sequence or structural similarity. Source: UniProtKB
Cellular_component	kinocilium Inferred from sequence or structural similarity. Source: UniProtKB stereocilium Inferred from sequence or structural similarity. Source: UniProtKB
Molecular_function	electron carrier activity Inferred from electronic annotation. Source: InterPro protein disulfide oxidoreductase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 290	290	Glutaredoxin domain-containing cysteine-rich protein 1		PRO_0000349189
Regions
	Domain	127 – 234	108	Glutaredoxin
Natural variations
	Natural variant	9	1	E → K. Ref.2 Corresponds to variant rs78136490 [ dbSNP | Ensembl ].		VAR_063159
	Natural variant	38	1	P → L in DFNB25. Ref.3		VAR_063160
	Natural variant	51	1	G → E. Ref.3		VAR_063161
	Natural variant	64	1	G → S in DFNB25. Ref.3		VAR_063162
	Natural variant	91	1	G → V. Ref.2 Ref.3		VAR_063163
	Natural variant	138	1	R → C in DFNB25. Ref.2		VAR_063164
	Natural variant	153	1	F → V in DFNB25. Ref.3		VAR_063165

Sequences

	Sequence		Length	Mass (Da)
	A8MXD5 [UniParc]. Last modified December 4, 2007. Version 1. Checksum: 876595DDA9B9194B	FASTA	290	32,294
	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

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00374244.
RefSeq	NP_001073945.1. NM_001080476.2.
UniGene	Hs.162559.
3D structure databases
ProteinModelPortal	A8MXD5.
ModBase	Search...
Protein-protein interaction databases
IntAct	A8MXD5. 1 interaction.
STRING	9606.ENSP00000382670.
PTM databases
PhosphoSite	A8MXD5.
Proteomic databases
PaxDb	A8MXD5.
PRIDE	A8MXD5.
Protocols and materials databases
DNASU	389207.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000399770; ENSP00000382670; ENSG00000215203.
GeneID	389207.
KEGG	hsa:389207.
UCSC	uc003gwt.3. human.
Organism-specific databases
CTD	389207.
GeneCards	GC04P042895.
HGNC	HGNC:31673. GRXCR1.
HPA	HPA040824.
MIM	613283. gene. 613285. phenotype.
neXtProt	NX_A8MXD5.
Orphanet	90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
PharmGKB	PA162390253.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG114644.
HOGENOM	HOG000112811.
HOVERGEN	HBG095477.
InParanoid	A8MXD5.
OMA	ERCRRVS.
OrthoDB	EOG4K6G4P.
Gene expression databases
Bgee	A8MXD5.
CleanEx	HS_GRXCR1.
Genevestigator	A8MXD5.
Family and domain databases
Gene3D	3.40.30.10. 1 hit.
InterPro	IPR002109. Glutaredoxin. IPR012336. Thioredoxin-like_fold. [Graphical view]
Pfam	PF00462. Glutaredoxin. 1 hit. [Graphical view]
SUPFAM	SSF52833. Thiordxn-like_fd. 1 hit.
PROSITE	PS00195. GLUTAREDOXIN_1. False negative. PS51354. GLUTAREDOXIN_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	389207.
NextBio	102713.
SOURCE	Search...

Entry information

Entry name

GRCR1_HUMAN

Accession

Primary (citable) accession number: A8MXD5

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 2, 2008
Last sequence update:	December 4, 2007
Last modified:	May 1, 2013
This is version 49 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.