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GRXCR1 Gene

protein-coding   GIFtS: 43
GCID: GC04P042895

Glutaredoxin, Cysteine Rich 1

(Previous names: deafness, autosomal recessive 25)
(Previous symbol: DFNB25)
  See GRXCR1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Glutaredoxin, Cysteine Rich 11 2
DFNB251 2 3
Deafness, Autosomal Recessive 251
Glutaredoxin Domain-Containing Cysteine-Rich Protein 12

External Ids:    HGNC: 316731   Entrez Gene: 3892072   Ensembl: ENSG000002152037   OMIM: 6132835   UniProtKB: A8MXD53   

Export aliases for GRXCR1 gene to outside databases

Previous GC identifers: GC04P042591 GC04P042217


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, cysteine rich 1) is a protein-coding gene. Diseases associated with GRXCR1 include deafness, autosomal recessive 25, and deafness, autosomal recessive 76. GO annotations related to this gene include electron carrier activity and protein disulfide oxidoreductase activity. An important paralog of this gene is GRXCR2.

UniProtKB/Swiss-Prot: GRCR1_HUMAN, A8MXD5
Function: May play a role in actin filament architecture in developing stereocilia of sensory cells (By
similarity)

Gene Wiki entry for GRXCR1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NC_018915.2  NT_006238.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the GRXCR1 gene promoter:
         LHX3b/Lhx3b   AP-1   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   NF-kappaB   POU3F2   Pax-3   NF-kappaB2   LHX3a/Lhx3a   NF-kappaB1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for GRXCR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GRXCR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p13   Ensembl cytogenetic band:  4p13   HGNC cytogenetic band: 4p14

GRXCR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GRXCR1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P042895:  view genomic region     (about GC identifiers)

Start:
42,895,283 bp from pter      End:
43,032,675 bp from pter
Size:
137,393 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GRCR1_HUMAN, A8MXD5 (See protein sequence)
Recommended Name: Glutaredoxin domain-containing cysteine-rich protein 1  
Size: 290 amino acids; 32294 Da

Explore the universe of human proteins at neXtProt for GRXCR1: NX_A8MXD5

Explore proteomics data for GRXCR1 at MOPED


See GRXCR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001073945.1  
ENSEMBL proteins: 
 ENSP00000382670  

GRXCR1 Human Recombinant Protein Products:

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Cloud-Clone Corp. Proteins for GRXCR1

 
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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro protein domains:
 IPR002109 Glutaredoxin
 IPR012336 Thioredoxin-like_fold

Graphical View of Domain Structure for InterPro Entry A8MXD5

ProtoNet protein and cluster: A8MXD5

UniProtKB/Swiss-Prot: GRCR1_HUMAN, A8MXD5
Similarity: Belongs to the GRXCR1 family
Similarity: Contains 1 glutaredoxin domain


Find genes that share domains with GRXCR1           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: GRCR1_HUMAN, A8MXD5
Function: May play a role in actin filament architecture in developing stereocilia of sensory cells (By
similarity)

     Gene Ontology (GO): 5 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003674molecular_function ND--
GO:0009055electron carrier activity IEA--
GO:0015035protein disulfide oxidoreductase activity IEA--
GO:0031072heat shock protein binding ----
GO:0051082unfolded protein binding ----
     
Find genes that share ontologies with GRXCR1           About GenesLikeMe


Phenotypes:
     3 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Grxcr1):
 behavior/neurological  hearing/vestibular/ear  nervous system 

Find genes that share phenotypes with GRXCR1           About GenesLikeMe

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GRXCR1
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GRXCR1

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GRXCR1
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GRXCR1

miRNA
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hsa-miR-3662
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Inhib. RNA
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GRXCR1


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
GRCR1_HUMAN, A8MXD5: 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)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
nucleus2
extracellular1

Gene Ontology (GO): 2 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0032420stereocilium ISS--
GO:0060091kinocilium ISS--

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GRXCR1
Interactions:

    Search GeneGlobe Interaction Network for GRXCR1

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

4 Interacting proteins for GRXCR1 (ENSP000003826704) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
PPP1CAENSP000003260314STRING: ENSP00000326031
MUC12ENSP000003687554STRING: ENSP00000368755
COPS5ENSP000003505124STRING: ENSP00000350512
--ENSP000003649054STRING: ENSP00000364905
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Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007605sensory perception of sound ISS--
GO:0010923negative regulation of phosphatase activity IDA19389623
GO:0042491auditory receptor cell differentiation IEA--
GO:0045454cell redox homeostasis IEA--
GO:0048563post-embryonic organ morphogenesis IEA--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for GRXCR1 (GRCR1)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for GRXCR1 gene: 
NM_001080476.2  

Unigene Cluster for GRXCR1:

Glutaredoxin, cysteine rich 1
Hs.162559  [show with all ESTs]
Unigene Representative Sequence: NM_001080476
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000399770(uc003gwt.3)
miRNA
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1 qRT-PCR Assays for microRNA that regulate GRXCR1:
hsa-miR-3662
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Inhib. RNA
Products:
     
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Predesigned siRNA for gene silencing in human, mouse, rat GRXCR1
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GRXCR1
Primer
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OriGene qSTAR qPCR primer pairs in human, mouse for GRXCR1
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GRXCR1
  QuantiTect SYBR Green Assays in human, mouse, rat GRXCR1
  QuantiFast Probe-based Assays in human, mouse, rat GRXCR1

1 DOTS entry:

DT.40208915 

10 AceView cDNA sequences:

BX108344 AI927557 BG213384 AA588868 BG204989 BG183783 BG208152 BG212337 
BG194699 BG216194 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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GRXCR1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TTTCGAAACT
GRXCR1 Expression
About this image

GRXCR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

GRXCR1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.162559

UniProtKB/Swiss-Prot: GRCR1_HUMAN, A8MXD5
Tissue specificity: Expressed at low levels in adult lung, brain and duodenum with moderate levels in testis.
Highly expressed in fetal cochlea

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GRXCR1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for GRXCR1 gene from Selected species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Grxcr11 , 5 glutaredoxin, cysteine rich 11, 5 87.2(n)1
92.73(a)1
  5 (36.59 cM)5
4338991  NM_001018019.21  NP_001018019.21 
 680318355 
chicken
(Gallus gallus)
Aves GRXCR11 glutaredoxin, cysteine rich 1 77.74(n)
81.66(a)
  770624  XM_004936071.1  XP_004936128.1 
lizard
(Anolis carolinensis)
Reptilia GRXCR16
glutaredoxin, cysteine rich 1
75(a)
1 ↔ 1
5(101513095-101584449)
tropical clawed frog
(Xenopus tropicalis)
Amphibia grxcr11 glutaredoxin, cysteine rich 1 75.49(n)
81.53(a)
  100489785  XM_002933450.2  XP_002933496.2 
zebrafish
(Danio rerio)
Actinopterygii LOC1003328731 glutaredoxin domain-containing cysteine-rich protein more 65.49(n)
68.2(a)
  100332873  XM_002664455.2  XP_002664501.1 
fruit fly
(Drosophila melanogaster)
Insecta CG315596
CG122066
--
19(a)
15(a)
many ↔ many
many ↔ many
3R(1975838-1982949)
X(3359770-3368553)
worm
(Caenorhabditis elegans)
Secernentea Y46E12A.31 Y46E12A.3 48.17(n)
34.07(a)
  175323  NM_065052.1  NP_497453.1 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for GRXCR1 gene
GRXCR22  

Find genes that share paralogs with GRXCR1           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for GRXCR1 (see all 3063)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 4 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0631654
Deafness, autosomal recessive, 25 (DFNB25)4--see VAR_0631652 F V mis40--------
VAR_0631644
Deafness, autosomal recessive, 25 (DFNB25)4--see VAR_0631642 R C mis40--------
VAR_0631624
Deafness, autosomal recessive, 25 (DFNB25)4--see VAR_0631622 G S mis40--------
VAR_0631604
Deafness, autosomal recessive, 25 (DFNB25)4--see VAR_0631602 P L mis40--------
rs2676068561,2
Cpathogenic142848084(+) TTGACC/TGTGTA 2 R C mis10--------
rs1501488181,2
C--42227605(+) TACAC-/ATGTTTT 1 -- int10--------
rs675837251,2
C--42227766(+) TTTTT-/TT/TTT
        
AGACG
2 -- int1 cds12NA 4
rs131255971,2
F--42227803(+) gtggcG/Atgatc 1 -- int11Minor allele frequency- A:0.00NA 2
rs131312031,2
F--42227804(+) tggcaC/Tgatct 1 -- int12Minor allele frequency- T:0.50NA 4
rs1855780961,2
--42227825(+) CAAGCC/TCTGCC 1 -- int10--------

HapMap Linkage Disequilibrium report for GRXCR1 (42895283 - 43032675 bp)

Structural Variations
     Database of Genomic Variants (DGV) 9 variations for GRXCR1:    About this table    
Variant IDTypeSubtypePubMed ID
esv2727495CNV Deletion23290073
esv2727494CNV Deletion23290073
esv2658687CNV Deletion23128226
esv5262CNV Deletion18987735
dgv872n67CNV Loss20364138
esv7471CNV Loss19470904
nsv291473CNV Loss16902084
nsv525721CNV Loss19592680
nsv293526CNV Loss16902084

Human Gene Mutation Database (HGMD): GRXCR1
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing GRXCR1
DNA2.0 Custom Variant and Variant Library Synthesis for GRXCR1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 613283   
OMIM disorders: 613285  
UniProtKB/Swiss-Prot: GRCR1_HUMAN, A8MXD5
  • 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

  • 2 diseases for GRXCR1:    
    About MalaCards
    deafness, autosomal recessive 25    deafness, autosomal recessive 76

    1 disease from the University of Copenhagen DISEASES database for GRXCR1:
    Nonsyndromic deafness

    Find genes that share disorders with GRXCR1           About GenesLikeMe

    Genetic Association Database (GAD): GRXCR1
    Human Genome Epidemiology (HuGE) Navigator: GRXCR1 (2 documents)

    Export disorders for GRXCR1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GRXCR1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with GRXCR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment. (PubMed id 20137778)1, 2, 3 Schraders M.... Kremer H. (Am. J. Hum. Genet. 2010)
    2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    3. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
    4. Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse. (PubMed id 20137774)2 Odeh H.... Kohrman D.C. (Am. J. Hum. Genet. 2010)
    5. Docking motif-guided mapping of the interactome of protein phosphatase-1. (PubMed id 19389623)1 Hendrickx A.... Bollen M. (Chem. Biol. 2009)
    6. Creation of genome-wide protein expression libraries using random activation of gene expression. (PubMed id 11329013)1 Harrington J.J.... Ducar M. (Nat. Biotechnol. 2001)
    7. Toward a complete human genome sequence. (PubMed id 9847074)1 Sulston J.E. and Waterston R. (Genome Res. 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 389207 HGNC: 31673 AceView: LOC389207 Ensembl:ENSG00000215203 euGenes: HUgn389207
    ECgene: GRXCR1 H-InvDB: GRXCR1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GRXCR1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GRXCR1 gene:
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