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UniProtKB - A8MXD5 (GRCR1_HUMAN)

Entry version 97 (08 May 2019)
Sequence version 1 (04 Dec 2007)
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Protein

Glutaredoxin domain-containing cysteine-rich protein 1

Gene

GRXCR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:4 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processHearing

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Glutaredoxin domain-containing cysteine-rich protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GRXCR1
Synonyms:DFNB25
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:31673 GRXCR1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		613283 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_A8MXD5

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cell projection, Cilium

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Deafness, autosomal recessive, 25 (DFNB25)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613285
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06316038P → L in DFNB25. 1 PublicationCorresponds to variant dbSNP:rs367784906EnsemblClinVar.1
Natural variantiVAR_06316264G → S in DFNB25. 1 PublicationCorresponds to variant dbSNP:rs370551174Ensembl.1
Natural variantiVAR_063164138R → C in DFNB25. 1 PublicationCorresponds to variant dbSNP:rs267606856EnsemblClinVar.1
Natural variantiVAR_063165153F → V in DFNB25. 1 PublicationCorresponds to variant dbSNP:rs770874273Ensembl.1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNET

More...DisGeNETi		389207

MalaCards human disease database

More...MalaCardsi		GRXCR1
MIMi613285 phenotype

Open Targets

More...OpenTargetsi		ENSG00000215203

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162390253

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GRXCR1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003491891 – 290Glutaredoxin domain-containing cysteine-rich protein 1Add BLAST290

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		A8MXD5

PRoteomics IDEntifications database

More...PRIDEi		A8MXD5

ProteomicsDB human proteome resource

More...ProteomicsDBi		2314

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		A8MXD5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		A8MXD5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed at low levels in adult lung, brain and duodenum with moderate levels in testis. Highly expressed in fetal cochlea.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000215203 Expressed in 8 organ(s), highest expression level in prostate gland

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA040824

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		133037, 1 interactor

Protein interaction database and analysis system

More...IntActi		A8MXD5, 9 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000382670

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		A8MXD5

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini127 – 234GlutaredoxinPROSITE-ProRule annotationAdd BLAST108

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the GRXCR1 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2824 Eukaryota
ENOG4111HAI LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000159219

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000112811

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		A8MXD5

KEGG Orthology (KO)

More...KOi		K17479

Identification of Orthologs from Complete Genome Data

More...OMAi		KALKCTS

Database of Orthologous Groups

More...OrthoDBi		1046721at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		A8MXD5

TreeFam database of animal gene trees

More...TreeFami		TF315372

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR002109 Glutaredoxin
IPR036249 Thioredoxin-like_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00462 Glutaredoxin, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52833 SSF52833, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51354 GLUTAREDOXIN_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

A8MXD5-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLKREMKPES DRPRKVRFRI ASSHSGRVLK EVYEDGQPSG SLDSECASIC 
        60         70         80         90        100
GIDGLGDSDG QQNGHIESEG DENENDQDSL LVLARAASEK GFGTRRVNIL 
       110        120        130        140        150
SKNGTVRGVK YKVSAGQALF NNLTKVLQQP STDLEFDRVV IYTTCLRVVR 
       160        170        180        190        200
TTFERCELVR KIFQNHRVKF EEKNIALNGE YGKELDERCR RVSEAPSLPV 
       210        220        230        240        250
VFIDGHYLGG AEKILSMNES GELQDILTKI ERVQHPHECP SCGGFGFLPC 
       260        270        280        290
SVCHGSKMSM FRNCFTDSFK ALKCTACNEN GLQRCKNCAG
Length:290
Mass (Da):32,294
Last modified:December 4, 2007 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i876595DDA9B9194B
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0631599E → K1 PublicationCorresponds to variant dbSNP:rs78136490EnsemblClinVar.1
Natural variantiVAR_06316038P → L in DFNB25. 1 PublicationCorresponds to variant dbSNP:rs367784906EnsemblClinVar.1
Natural variantiVAR_06316151G → E1 PublicationCorresponds to variant dbSNP:rs727505186EnsemblClinVar.1
Natural variantiVAR_06316264G → S in DFNB25. 1 PublicationCorresponds to variant dbSNP:rs370551174Ensembl.1
Natural variantiVAR_06316391G → V2 PublicationsCorresponds to variant dbSNP:rs113203706EnsemblClinVar.1
Natural variantiVAR_063164138R → C in DFNB25. 1 PublicationCorresponds to variant dbSNP:rs267606856EnsemblClinVar.1
Natural variantiVAR_063165153F → V in DFNB25. 1 PublicationCorresponds to variant dbSNP:rs770874273Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AC098861 Genomic DNA No translation available.
AC108035 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS43225.1

NCBI Reference Sequences

More...RefSeqi		NP_001073945.1, NM_001080476.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000399770; ENSP00000382670; ENSG00000215203

Database of genes from NCBI RefSeq genomes

More...GeneIDi		389207

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:389207

UCSC genome browser

More...UCSCi		uc003gwt.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC098861 Genomic DNA No translation available.
AC108035 Genomic DNA No translation available.
CCDSiCCDS43225.1
RefSeqiNP_001073945.1, NM_001080476.2

3D structure databases

SMRiA8MXD5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi133037, 1 interactor
IntActiA8MXD5, 9 interactors
STRINGi9606.ENSP00000382670

PTM databases

iPTMnetiA8MXD5
PhosphoSitePlusiA8MXD5

Polymorphism and mutation databases

BioMutaiGRXCR1

Proteomic databases

PaxDbiA8MXD5
PRIDEiA8MXD5
ProteomicsDBi2314

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		389207
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000399770; ENSP00000382670; ENSG00000215203
GeneIDi389207
KEGGihsa:389207
UCSCiuc003gwt.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		389207
DisGeNETi389207

GeneCards: human genes, protein and diseases

More...GeneCardsi		GRXCR1
HGNCiHGNC:31673 GRXCR1
HPAiHPA040824
MalaCardsiGRXCR1
MIMi613283 gene
613285 phenotype
neXtProtiNX_A8MXD5
OpenTargetsiENSG00000215203
Orphaneti90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
PharmGKBiPA162390253

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2824 Eukaryota
ENOG4111HAI LUCA
GeneTreeiENSGT00940000159219
HOGENOMiHOG000112811
InParanoidiA8MXD5
KOiK17479
OMAiKALKCTS
OrthoDBi1046721at2759
PhylomeDBiA8MXD5
TreeFamiTF315372

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		GRXCR1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		389207

Protein Ontology

More...PROi		PR:A8MXD5

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000215203 Expressed in 8 organ(s), highest expression level in prostate gland

Family and domain databases

InterProiView protein in InterPro
IPR002109 Glutaredoxin
IPR036249 Thioredoxin-like_sf
PfamiView protein in Pfam
PF00462 Glutaredoxin, 1 hit
SUPFAMiSSF52833 SSF52833, 1 hit
PROSITEiView protein in PROSITE
PS51354 GLUTAREDOXIN_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGRCR1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: A8MXD5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 2, 2008
Last sequence update: December 4, 2007
Last modified: May 8, 2019
This is version 97 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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