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Protein

Tail-anchored protein insertion receptor WRB

Gene

WRB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Receptor for ASNA1/TRC40-mediated insertion of tail-anchored (TA) proteins into the ER membrane.1 Publication

GO - Biological processi

Complete GO annotation...

Protein family/group databases

TCDBi3.A.19.1.1. the tms recognition/insertion complex (trc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Tail-anchored protein insertion receptor WRB
Alternative name(s):
Congenital heart disease 5 protein
Tryptophan-rich basic protein
Short name:
WRB
Gene namesi
Name:WRB
Synonyms:CHD5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

HGNCiHGNC:12790. WRB.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 8LumenalSequence analysis8
Transmembranei9 – 29HelicalSequence analysisAdd BLAST21
Topological domaini30 – 99CytoplasmicSequence analysisAdd BLAST70
Transmembranei100 – 120HelicalSequence analysisAdd BLAST21
Topological domaini121 – 148LumenalSequence analysisAdd BLAST28
Transmembranei149 – 169HelicalSequence analysisAdd BLAST21
Topological domaini170 – 174CytoplasmicSequence analysis5

GO - Cellular componenti

  • endoplasmic reticulum membrane Source: UniProtKB-SubCell
  • integral component of membrane Source: UniProtKB-KW
  • nucleus Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi7485.
OpenTargetsiENSG00000182093.
PharmGKBiPA37391.

Polymorphism and mutation databases

BioMutaiWRB.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000659791 – 174Tail-anchored protein insertion receptor WRBAdd BLAST174

Proteomic databases

EPDiO00258.
MaxQBiO00258.
PaxDbiO00258.
PeptideAtlasiO00258.
PRIDEiO00258.

PTM databases

iPTMnetiO00258.
PhosphoSitePlusiO00258.

Expressioni

Gene expression databases

BgeeiENSG00000182093.
CleanExiHS_CHD5.
HS_WRB.
ExpressionAtlasiO00258. baseline and differential.
GenevisibleiO00258. HS.

Organism-specific databases

HPAiHPA018527.

Interactioni

Subunit structurei

Interacts with ASNA1/TRC40.1 Publication

Protein-protein interaction databases

BioGridi113322. 14 interactors.
STRINGi9606.ENSP00000327716.

Structurei

3D structure databases

ProteinModelPortaliO00258.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni39 – 97Interaction with ASNA1/TRC40Add BLAST59

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili39 – 94Sequence analysisAdd BLAST56

Sequence similaritiesi

Belongs to the WRB/GET1 family.Curated

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4253. Eukaryota.
ENOG41120B0. LUCA.
GeneTreeiENSGT00390000002415.
HOGENOMiHOG000013223.
HOVERGENiHBG010388.
InParanoidiO00258.
OMAiITCWLVV.
OrthoDBiEOG091G0O4W.
PhylomeDBiO00258.
TreeFamiTF314708.

Family and domain databases

InterProiIPR028945. WRB/Get1.
[Graphical view]
PfamiPF04420. CHD5. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O00258-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSSAAADHWA WLLVLSFVFG CNVLRILLPS FSSFMSRVLQ KDAEQESQMR
60 70 80 90 100
AEIQDMKQEL STVNMMDEFA RYARLERKIN KMTDKLKTHV KARTAQLAKI
110 120 130 140 150
KWVISVAFYV LQAALMISLI WKYYSVPVAV VPSKWITPLD RLVAFPTRVA
160 170
GGVGITCWIL VCNKVVAIVL HPFS
Length:174
Mass (Da):19,780
Last modified:December 1, 2000 - v2
Checksum:iA01F11CC564EAB6E
GO
Isoform 2 (identifier: O00258-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-34: Missing.

Note: No experimental confirmation available.
Show »
Length:140
Mass (Da):16,011
Checksum:i601B094EF9F52C95
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti31F → I in CAA73081 (PubMed:9544840).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051491110V → I.Corresponds to variant rs35946782dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0430811 – 34Missing in isoform 2. 1 PublicationAdd BLAST34

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y12478 mRNA. Translation: CAA73081.1.
AK293113 mRNA. Translation: BAF85802.1.
AK299144 mRNA. Translation: BAG61196.1.
AF064861 Genomic DNA. No translation available.
AF121781 Genomic DNA. No translation available.
AL163279 Genomic DNA. Translation: CAB90454.1.
CH471079 Genomic DNA. Translation: EAX09645.1.
CH471079 Genomic DNA. Translation: EAX09647.1.
CH471079 Genomic DNA. Translation: EAX09649.1.
BC012415 mRNA. Translation: AAH12415.1.
CCDSiCCDS13664.1. [O00258-1]
CCDS54485.1. [O00258-2]
RefSeqiNP_001139690.1. NM_001146218.1. [O00258-2]
NP_004618.2. NM_004627.4. [O00258-1]
UniGeneiHs.198308.
Hs.744958.

Genome annotation databases

EnsembliENST00000333781; ENSP00000327716; ENSG00000182093. [O00258-1]
ENST00000380708; ENSP00000370084; ENSG00000182093. [O00258-2]
ENST00000398753; ENSP00000381737; ENSG00000182093. [O00258-2]
GeneIDi7485.
KEGGihsa:7485.
UCSCiuc002yxs.4. human. [O00258-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y12478 mRNA. Translation: CAA73081.1.
AK293113 mRNA. Translation: BAF85802.1.
AK299144 mRNA. Translation: BAG61196.1.
AF064861 Genomic DNA. No translation available.
AF121781 Genomic DNA. No translation available.
AL163279 Genomic DNA. Translation: CAB90454.1.
CH471079 Genomic DNA. Translation: EAX09645.1.
CH471079 Genomic DNA. Translation: EAX09647.1.
CH471079 Genomic DNA. Translation: EAX09649.1.
BC012415 mRNA. Translation: AAH12415.1.
CCDSiCCDS13664.1. [O00258-1]
CCDS54485.1. [O00258-2]
RefSeqiNP_001139690.1. NM_001146218.1. [O00258-2]
NP_004618.2. NM_004627.4. [O00258-1]
UniGeneiHs.198308.
Hs.744958.

3D structure databases

ProteinModelPortaliO00258.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113322. 14 interactors.
STRINGi9606.ENSP00000327716.

Protein family/group databases

TCDBi3.A.19.1.1. the tms recognition/insertion complex (trc) family.

PTM databases

iPTMnetiO00258.
PhosphoSitePlusiO00258.

Polymorphism and mutation databases

BioMutaiWRB.

Proteomic databases

EPDiO00258.
MaxQBiO00258.
PaxDbiO00258.
PeptideAtlasiO00258.
PRIDEiO00258.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000333781; ENSP00000327716; ENSG00000182093. [O00258-1]
ENST00000380708; ENSP00000370084; ENSG00000182093. [O00258-2]
ENST00000398753; ENSP00000381737; ENSG00000182093. [O00258-2]
GeneIDi7485.
KEGGihsa:7485.
UCSCiuc002yxs.4. human. [O00258-1]

Organism-specific databases

CTDi7485.
DisGeNETi7485.
GeneCardsiWRB.
HGNCiHGNC:12790. WRB.
HPAiHPA018527.
MIMi602915. gene.
neXtProtiNX_O00258.
OpenTargetsiENSG00000182093.
PharmGKBiPA37391.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4253. Eukaryota.
ENOG41120B0. LUCA.
GeneTreeiENSGT00390000002415.
HOGENOMiHOG000013223.
HOVERGENiHBG010388.
InParanoidiO00258.
OMAiITCWLVV.
OrthoDBiEOG091G0O4W.
PhylomeDBiO00258.
TreeFamiTF314708.

Miscellaneous databases

GenomeRNAii7485.
PROiO00258.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000182093.
CleanExiHS_CHD5.
HS_WRB.
ExpressionAtlasiO00258. baseline and differential.
GenevisibleiO00258. HS.

Family and domain databases

InterProiIPR028945. WRB/Get1.
[Graphical view]
PfamiPF04420. CHD5. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiWRB_HUMAN
AccessioniPrimary (citable) accession number: O00258
Secondary accession number(s): A8KAP8
, A8MQ44, D3DSH9, O60740
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: December 1, 2000
Last modified: November 2, 2016
This is version 120 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.