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Aliases for GRXCR1 Gene

Aliases for GRXCR1 Gene

  • Glutaredoxin And Cysteine Rich Domain Containing 1 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 88 2 3
  • Glutaredoxin, Cysteine Rich 1 2 3
  • DFNB25 3 4
  • Glutaredoxin Domain-Containing Cysteine-Rich Protein 1 3
  • Deafness, Autosomal Recessive 25 2
  • PPP1R88 3

External Ids for GRXCR1 Gene

Previous HGNC Symbols for GRXCR1 Gene

  • DFNB25

Previous GeneCards Identifiers for GRXCR1 Gene

  • GC04P042591
  • GC04P042217

Summaries for GRXCR1 Gene

Entrez Gene Summary for GRXCR1 Gene

  • This gene is one of 60 loci associated with autosomal-recessive nonsyndromic hearing impairment. This gene encodes a protein which contains GRX-like domains; these domains play a role in the S-glutathionylation of proteins and may be involved in actin organization in hair cells. [provided by RefSeq, Sep 2010]

GeneCards Summary for GRXCR1 Gene

GRXCR1 (Glutaredoxin And Cysteine Rich Domain Containing 1) is a Protein Coding gene. Diseases associated with GRXCR1 include Deafness, Autosomal Recessive 25 and Dfnb25 Nonsyndromic Hearing Loss And Deafness. GO annotations related to this gene include unfolded protein binding and heat shock protein binding. An important paralog of this gene is GRXCR2.

UniProtKB/Swiss-Prot for GRXCR1 Gene

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

Gene Wiki entry for GRXCR1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GRXCR1 Gene

Genomics for GRXCR1 Gene

Regulatory Elements for GRXCR1 Gene

Enhancers for GRXCR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F042637 1.5 FANTOM5 Ensembl ENCODE 3.1 -252.1 -252071 7.2 HDGF TBP PKNOX1 TBL1XR1 WRNIP1 BMI1 RFX5 ETV6 CREM SMAD5 ATP8A1 SHISA3 GRXCR1 GC04P042610
GH04F042817 0.4 FANTOM5 2.1 -75.9 -75864 0.4 CTCF SMC3 RAD21 GRXCR1 ATP8A1 LOC105374431 RN7SKP82
GH04F042546 0.3 FANTOM5 1.4 -346.8 -346812 0.4 GRXCR1 CCNL2P1 RPS7P7
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around GRXCR1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GRXCR1 Gene

Chromosome:
4
Start:
42,893,266 bp from pter
End:
43,030,658 bp from pter
Size:
137,393 bases
Orientation:
Plus strand

Genomic View for GRXCR1 Gene

Genes around GRXCR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRXCR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRXCR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRXCR1 Gene

Proteins for GRXCR1 Gene

  • Protein details for GRXCR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A8MXD5-GRCR1_HUMAN
    Recommended name:
    Glutaredoxin domain-containing cysteine-rich protein 1
    Protein Accession:
    A8MXD5

    Protein attributes for GRXCR1 Gene

    Size:
    290 amino acids
    Molecular mass:
    32294 Da
    Quaternary structure:
    No Data Available

neXtProt entry for GRXCR1 Gene

Post-translational modifications for GRXCR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GRXCR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GRXCR1 Gene

Domains & Families for GRXCR1 Gene

Gene Families for GRXCR1 Gene

Protein Domains for GRXCR1 Gene

Suggested Antigen Peptide Sequences for GRXCR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A8MXD5

UniProtKB/Swiss-Prot:

GRCR1_HUMAN :
  • Contains 1 glutaredoxin domain.
  • Belongs to the GRXCR1 family.
Domain:
  • Contains 1 glutaredoxin domain.
Family:
  • Belongs to the GRXCR1 family.
genes like me logo Genes that share domains with GRXCR1: view

Function for GRXCR1 Gene

Molecular function for GRXCR1 Gene

UniProtKB/Swiss-Prot Function:
May play a role in actin filament architecture in developing stereocilia of sensory cells.

Gene Ontology (GO) - Molecular Function for GRXCR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0009055 electron carrier activity IEA --
GO:0015035 protein disulfide oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with GRXCR1: view
genes like me logo Genes that share phenotypes with GRXCR1: view

Human Phenotype Ontology for GRXCR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GRXCR1 Gene

Localization for GRXCR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRXCR1 Gene

Cell projection, stereocilium. Cell projection, microvillus. Cell projection, kinocilium. Note=In the inner ear, localized to stereocilia, apical microvilli of sensory cells and kinocilia. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GRXCR1 Gene COMPARTMENTS Subcellular localization image for GRXCR1 gene
Compartment Confidence
cytosol 2
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for GRXCR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005902 microvillus IEA --
GO:0005929 cilium IEA --
GO:0032420 stereocilium ISS --
GO:0042995 cell projection IEA --
GO:0060091 kinocilium ISS --
genes like me logo Genes that share ontologies with GRXCR1: view

Pathways & Interactions for GRXCR1 Gene

SuperPathways for GRXCR1 Gene

No Data Available

Interacting Proteins for GRXCR1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000382670%0d%0a9606.ENSP00000326031%0d%0a9606.ENSP00000386049%0d%0a
Selected Interacting proteins: A8MXD5-GRCR1_HUMAN ENSP00000382670 for GRXCR1 Gene via IID STRING

Gene Ontology (GO) - Biological Process for GRXCR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007605 sensory perception of sound ISS --
GO:0010923 negative regulation of phosphatase activity IDA 19389623
GO:0045454 cell redox homeostasis IEA --
GO:0055114 oxidation-reduction process IEA --
GO:0060118 vestibular receptor cell development ISS --
genes like me logo Genes that share ontologies with GRXCR1: view

No data available for Pathways by source and SIGNOR curated interactions for GRXCR1 Gene

Transcripts for GRXCR1 Gene

mRNA/cDNA for GRXCR1 Gene

(1) REFSEQ mRNAs :
(0) Additional mRNA sequences :
-
(10) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GRXCR1 Gene

Glutaredoxin, cysteine rich 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GRXCR1 Gene

No ASD Table

Relevant External Links for GRXCR1 Gene

GeneLoc Exon Structure for
GRXCR1
ECgene alternative splicing isoforms for
GRXCR1

Expression for GRXCR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GRXCR1 Gene

mRNA differential expression in normal tissues according to GTEx for GRXCR1 Gene

This gene is overexpressed in Testis (x24.5), Brain - Nucleus accumbens (basal ganglia) (x9.5), and Brain - Caudate (basal ganglia) (x5.1).

Protein differential expression in normal tissues from HIPED for GRXCR1 Gene

This gene is overexpressed in Lavage (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GRXCR1 Gene



Protein tissue co-expression partners for GRXCR1 Gene

NURSA nuclear receptor signaling pathways regulating expression of GRXCR1 Gene:

GRXCR1

SOURCE GeneReport for Unigene cluster for GRXCR1 Gene:

Hs.162559

mRNA Expression by UniProt/SwissProt for GRXCR1 Gene:

A8MXD5-GRCR1_HUMAN
Tissue specificity: Expressed at low levels in adult lung, brain and duodenum with moderate levels in testis. Highly expressed in fetal cochlea.
genes like me logo Genes that share expression patterns with GRXCR1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for GRXCR1 Gene

Orthologs for GRXCR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GRXCR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GRXCR1 34 35
  • 99.43 (n)
cow
(Bos Taurus)
Mammalia GRXCR1 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GRXCR1 34 35
  • 90 (n)
oppossum
(Monodelphis domestica)
Mammalia GRXCR1 35
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Grxcr1 34
  • 88.58 (n)
mouse
(Mus musculus)
Mammalia Grxcr1 34 16 35
  • 87.2 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GRXCR1 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves GRXCR1 34 35
  • 77.74 (n)
lizard
(Anolis carolinensis)
Reptilia GRXCR1 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia grxcr1 34
  • 75.49 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100332873 34
  • 65.49 (n)
grxcr1 35
  • 39 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG31559 35
  • 19 (a)
ManyToMany
CG12206 35
  • 15 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea Y46E12A.3 34 35
  • 48.17 (n)
Species where no ortholog for GRXCR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GRXCR1 Gene

ENSEMBL:
Gene Tree for GRXCR1 (if available)
TreeFam:
Gene Tree for GRXCR1 (if available)

Paralogs for GRXCR1 Gene

Paralogs for GRXCR1 Gene

genes like me logo Genes that share paralogs with GRXCR1: view

Variants for GRXCR1 Gene

Sequence variations from dbSNP and Humsavar for GRXCR1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs267606856 Deafness, autosomal recessive, 25 (DFNB25) [MIM:613285], Pathogenic 42,962,919(+) TTGAC(C/T)GTGTA reference, missense
rs367784906 Deafness, autosomal recessive, 25 (DFNB25) [MIM:613285] 42,893,379(+) GCAAC(C/T)GTCAG reference, missense
rs370551174 Deafness, autosomal recessive, 25 (DFNB25) [MIM:613285] 42,893,456(+) AGAAT(A/C/G)GCCAC reference, missense
rs770874273 Deafness, autosomal recessive, 25 (DFNB25) [MIM:613285] 42,962,964(+) CAACC(G/T)TTGAA reference, missense
rs201824235 Pathogenic 42,963,153(+) CCAGG(A/T)AAGTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GRXCR1 Gene

Variant ID Type Subtype PubMed ID
dgv2777n106 CNV deletion 24896259
dgv872n67 CNV loss 20364138
esv2658687 CNV deletion 23128226
esv2727494 CNV deletion 23290073
esv2727495 CNV deletion 23290073
esv3563781 CNV deletion 23714750
esv3600365 CNV loss 21293372
esv3600367 CNV loss 21293372
esv5262 CNV loss 18987735
esv7471 CNV loss 19470904
nsv1003562 CNV gain 25217958
nsv291473 CNV deletion 16902084
nsv293526 CNV deletion 16902084
nsv525721 CNV loss 19592680

Variation tolerance for GRXCR1 Gene

Residual Variation Intolerance Score: 26.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.37; 85.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GRXCR1 Gene

Human Gene Mutation Database (HGMD)
GRXCR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GRXCR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRXCR1 Gene

Disorders for GRXCR1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for GRXCR1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 25
  • autosomal recessive nonsyndromic deafness 25
dfnb25 nonsyndromic hearing loss and deafness
  • deafness, autosomal recessive 25
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
deafness, autosomal recessive
deafness and hereditary hearing loss
  • hereditary hearing loss and deafness
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GRCR1_HUMAN
  • 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. {ECO:0000269 PubMed:20137774, ECO:0000269 PubMed:20137778}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GRXCR1

Genetic Association Database (GAD)
GRXCR1
Human Genome Epidemiology (HuGE) Navigator
GRXCR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GRXCR1
genes like me logo Genes that share disorders with GRXCR1: view

No data available for Genatlas for GRXCR1 Gene

Publications for GRXCR1 Gene

  1. Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment. (PMID: 20137778) Schraders M. … Kremer H. (Am. J. Hum. Genet. 2010) 2 3 4 64
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64
  3. Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus. (PMID: 25338677) Kariuki S.N. … Niewold T.B. (Genes Immun. 2015) 3 64
  4. Novel mutation in GRXCR1 at DFNB25 lead to progressive hearing loss and dizziness. (PMID: 25802247) Mori K. … Usami S. (Ann. Otol. Rhinol. Laryngol. 2015) 3 64
  5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3 64

Products for GRXCR1 Gene

Sources for GRXCR1 Gene

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