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UniProtKB/Swiss-Prot entry O95718


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name ERR2_HUMAN
Primary accession number O95718
Secondary accession number Q9HCB4
Integrated into Swiss-Prot on February 21, 2001
Sequence was last modified on May 1, 1999 (Sequence version 1)
Annotations were last modified on    December 16, 2008 (Entry version 82)
Name and origin of the protein
Protein name Steroid hormone receptor ERR2
Synonyms Estrogen-related receptor, beta
ERR-beta
Estrogen receptor-like 2
ERR beta-2
Nuclear receptor subfamily 3 group B member 2
Gene name
Name: ESRRB
Synonyms: ERRB2, ESRL2, NR3B2
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Testis;
DOI=10.1016/S0378-1119(98)00619-2; PubMed=10072763 [NCBI, ExPASy, EBI, Israel, Japan]
Chen F., Zhang Q., McDonald T., Davidoff M.J., Bailey W., Bai C., Liu Q., Caskey C.T.;
"Identification of two hERR2-related novel nuclear receptors utilizing bioinformatics and inverse PCR.";
Gene 228:101-109(1999).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature01348; PubMed=12508121 [NCBI, ExPASy, EBI, Israel, Japan]
Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.;
"The DNA sequence and analysis of human chromosome 14.";
Nature 421:601-607(2003).
[3]
VARIANTS DFNB35 VAL-110; PRO-320; LEU-342; PRO-347 AND MET-389, AND VARIANT SER-386.
DOI=10.1016/j.ajhg.2007.09.008; PubMed=18179891 [NCBI, ExPASy, EBI, Israel, Japan]
Collin R.W.J., Kalay E., Tariq M., Peters T., van der Zwaag B., Venselaar H., Oostrik J., Lee K., Ahmed Z.M., Caylan R., Li Y., Spierenburg H.A., Eyupoglu E., Heister A., Riazuddin S., Bahat E., Ansar M., Arslan S., Wollnik B., Brunner H.G., Cremers C.W.R.J., Karaguzel A., Ahmad W., Cremers F.P.M., Vriend G., Friedman T.B., Riazuddin S., Leal S.M., Kremer H.;
"Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.";
Am. J. Hum. Genet. 82:125-138(2008).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AF094517; AAC99409.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AC008050; AAG17472.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AC016543; -; NOT_ANNOTATED_CDS; Genomic_DNA.[EMBL / GenBank / DDBJ]
RefSeq NP_004443.2; -.
UniGene Hs.435845
3D structure databases
PDB
1LO1; NMR; -; A=97-194.[ExPASy / RCSB / EBI]
PDBsum 1LO1; -.
SMR O95718; 211-432.
ModBase O95718.
PTM databases
PhosphoSite O95718; -.
Organism-specific databases
GeneCards GC14P075907; -.
HGNC HGNC:3473; ESRRB.
GenAtlas ESRRB.
MIM 602167; gene. [NCBI / EBI]
608565; phenotype. [NCBI / EBI]
Orphanet 90636; Deafness, autosomal recessive, nonsyndromic, sensorineural, type DFNB.
PharmGKB PA27889; -.
GeneCards O95718.
Gene expression databases
ArrayExpress O95718; -.
CleanEx HS_ESRRB; -.
GermOnline ENSG00000119715; Homo sapiens.
Ontologies
GO
GO:0005634; Cellular component: nucleus (inferred from electronic annotation from InterPro).
GO:0043565; Molecular function: sequence-specific DNA binding (inferred from electronic annotation from InterPro).
GO:0005496; Molecular function: steroid binding (inferred from electronic annotation from InterPro).
GO:0003707; Molecular function: steroid hormone receptor activity (inferred from electronic annotation from InterPro).
GO:0003700; Molecular function: transcription factor activity (inferred from electronic annotation from InterPro).
GO:0008270; Molecular function: zinc ion binding (inferred from electronic annotation from InterPro).
GO:0006355; Biological process: regulation of transcription, DNA-dependent (inferred from electronic annotation from InterPro).
GO:0007605; Biological process: sensory perception of sound (inferred from electronic annotation from UniProtKB-KW).
QuickGo view.
Family and domain databases
InterPro IPR008946; Nucl_hormone_rcpt_ligand-bd.
IPR000536; Nucl_hrmn_rcpt_lig-bd_core.
IPR000003; RtnoidX_rcpt.
IPR001723; Str_hrmn_rcpt.
IPR001628; Znf_hrmn_rcpt.
IPR013088; Znf_NHR/GATA.
Graphical view of domain structure.
Gene3D G3DSA:1.10.565.10; Nucl_hrmn_rcpt_lig_bd; 1.
G3DSA:3.30.50.10; Znf_NHR/GATA; 1.
Pfam PF00104; Hormone_recep; 1.
PF00105; zf-C4; 1.
Pfam graphical view of domain structure.
PRINTS PR00545; RETINOIDXR.
PR00398; STRDHORMONER.
PR00047; STROIDFINGER.
ProDom PD000035; Znf_C4steroid; 1.
[Domain structure / List of seq. sharing at least 1 domain]
SMART SM00430; HOLI; 1.
SM00399; ZnF_C4; 1.
SMART graphical view of domain structure.
PROSITE PS00031; NUCLEAR_REC_DBD_1; 1.
PS51030; NUCLEAR_REC_DBD_2; 1.
PROSITE graphical view of domain structure (profiles).
Proteomics databases
PRIDE O95718; -.
Genome annotation databases
Ensembl ENSG00000119715; Homo sapiens. [Contig view]
GeneID 2103; -.
KEGG hsa:2103; -.
Phylogenomic databases
HOVERGEN O95718; -.
Other
LinkHub O95718; -.
NextBio 8507; -.
SOURCE ESRRB; Homo sapiens.
ProtoNet O95718.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
3D-structure; Deafness; Disease mutation; DNA-binding; Metal-binding; Non-syndromic deafness; Nucleus; Receptor; Transcription; Transcription regulation; Zinc; Zinc-finger.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
CHAIN   1   500  500     Steroid hormone receptor ERR2. PRO_0000053662
DNA_BIND   100   175  76     Nuclear receptor. 
ZN_FING   103   123  21     NR C4-type. 
ZN_FING   139   163  25     NR C4-type. 
VARIANT   110   110  1     A -> V (in DFNB35). VAR_043503 
VARIANT   320   320  1     L -> P (in DFNB35). VAR_043504 [3D]
VARIANT   342   342  1     V -> L (in DFNB35). VAR_043505 [3D]
VARIANT   347   347  1     L -> P (in DFNB35). VAR_043506 [3D]
VARIANT   386   386  1     P -> S. VAR_043507 [3D]
VARIANT   389   389  1     T -> M (in DFNB35; uncertain pathological significance). VAR_043508 [3D]
TURN   104   107  4      
STRAND   111   119  9      
HELIX   121   132  12      
HELIX   149   154  6      
HELIX   156   166  11      
HELIX   170   172  3      
Sequence information
Length: 500 AA [This is the length of the unprocessed precursor] Molecular weight: 55619 Da [This is the MW of the unprocessed precursor] CRC64: C219C84D914DF1C6 [This is a checksum on the sequence]
        10         20         30         40         50         60 
MSSDDRHLGS SCGSFIKTEP SSPSSGIDAL SHHSPSGSSD ASGGFGLALG THANGLDSPP 

        70         80         90        100        110        120 
MFAGAGLGGT PCRKSYEDCA SGIMEDSAIK CEYMLNAIPK RLCLVCGDIA SGYHYGVASC 

       130        140        150        160        170        180 
EACKAFFKRT IQGNIEYSCP ATNECEITKR RRKSCQACRF MKCLKVGMLK EGVRLDRVRG 

       190        200        210        220        230        240 
GRQKYKRRLD SESSPYLSLQ ISPPAKKPLT KIVSYLLVAE PDKLYAMPPP GMPEGDIKAL 

       250        260        270        280        290        300 
TTLCDLADRE LVVIIGWAKH IPGFSSLSLG DQMSLLQSAW MEILILGIVY RSLPYDDKLV 

       310        320        330        340        350        360 
YAEDYIMDEE HSRLAGLLEL YRAILQLVRR YKKLKVEKEE FVTLKALALA NSDSMYIEDL 

       370        380        390        400        410        420 
EAVQKLQDLL HEALQDYELS QRHEEPWRTG KLLLTLPLLR QTAAKAVQHF YSVKLQGKVP 

       430        440        450        460        470        480 
MHKLFLEMLE AKAWARADSL QEWRPLEQVP SPLHRATKRQ HVHFLTPLPP PPSVAWVGTA 

       490        500 
QAGYHLEVFL PQRAGWPRAA 

O95718 in FASTA format

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