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O00258

- WRB_HUMAN

UniProt

O00258 - WRB_HUMAN

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Protein

Tail-anchored protein insertion receptor WRB

Gene

WRB

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. tail-anchored membrane protein insertion into ER membrane Source: InterPro
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
ProteomesiUP000005640: Chromosome 21

Organism-specific databases

HGNCiHGNC:12790. WRB.

Subcellular locationi

Endoplasmic reticulum membrane 2 Publications; Multi-pass membrane protein 2 Publications

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB-KW
  2. integral component of membrane Source: UniProtKB-KW
  3. nucleus Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA37391.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 174174Tail-anchored protein insertion receptor WRBPRO_0000065979Add
BLAST

Proteomic databases

MaxQBiO00258.
PaxDbiO00258.
PRIDEiO00258.

PTM databases

PhosphoSiteiO00258.

Expressioni

Gene expression databases

BgeeiO00258.
CleanExiHS_CHD5.
HS_WRB.
ExpressionAtlasiO00258. baseline and differential.
GenevestigatoriO00258.

Organism-specific databases

HPAiHPA018527.

Interactioni

Subunit structurei

Interacts with ASNA1/TRC40.1 Publication

Protein-protein interaction databases

BioGridi113322. 13 interactions.
STRINGi9606.ENSP00000327716.

Structurei

3D structure databases

ProteinModelPortaliO00258.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 88LumenalSequence Analysis
Topological domaini30 – 9970CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini121 – 14828LumenalSequence AnalysisAdd
BLAST
Topological domaini170 – 1745CytoplasmicSequence Analysis

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei9 – 2921HelicalSequence AnalysisAdd
BLAST
Transmembranei100 – 12021HelicalSequence AnalysisAdd
BLAST
Transmembranei149 – 16921HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni39 – 9759Interaction with ASNA1/TRC40Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili39 – 9456Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the WRB/GET1 family.Curated

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG287621.
GeneTreeiENSGT00390000002415.
HOGENOMiHOG000013223.
HOVERGENiHBG010388.
InParanoidiO00258.
OMAiITCWLVV.
OrthoDBiEOG7TJ3KG.
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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti31 – 311F → I in CAA73081. (PubMed:9544840)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti110 – 1101V → I.
Corresponds to variant rs35946782 [ dbSNP | Ensembl ].
VAR_051491

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 3434Missing in isoform 2. 1 PublicationVSP_043081Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
XP_005261116.1. XM_005261059.2. [O00258-2]
XP_005261117.1. XM_005261060.2. [O00258-2]
XP_005261118.1. XM_005261061.2. [O00258-2]
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.3. human. [O00258-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS13664.1. [O00258-1 ]
CCDS54485.1. [O00258-2 ]
RefSeqi NP_001139690.1. NM_001146218.1. [O00258-2 ]
NP_004618.2. NM_004627.4. [O00258-1 ]
XP_005261116.1. XM_005261059.2. [O00258-2 ]
XP_005261117.1. XM_005261060.2. [O00258-2 ]
XP_005261118.1. XM_005261061.2. [O00258-2 ]
UniGenei Hs.198308.
Hs.744958.

3D structure databases

ProteinModelPortali O00258.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 113322. 13 interactions.
STRINGi 9606.ENSP00000327716.

Protein family/group databases

TCDBi 3.A.19.1.1. the tms recognition/insertion complex (trc) family.

PTM databases

PhosphoSitei O00258.

Proteomic databases

MaxQBi O00258.
PaxDbi O00258.
PRIDEi O00258.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000333781 ; ENSP00000327716 ; ENSG00000182093 . [O00258-1 ]
ENST00000380708 ; ENSP00000370084 ; ENSG00000182093 . [O00258-2 ]
ENST00000398753 ; ENSP00000381737 ; ENSG00000182093 . [O00258-2 ]
GeneIDi 7485.
KEGGi hsa:7485.
UCSCi uc002yxs.3. human. [O00258-1 ]

Organism-specific databases

CTDi 7485.
GeneCardsi GC21P040752.
HGNCi HGNC:12790. WRB.
HPAi HPA018527.
MIMi 602915. gene.
neXtProti NX_O00258.
PharmGKBi PA37391.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG287621.
GeneTreei ENSGT00390000002415.
HOGENOMi HOG000013223.
HOVERGENi HBG010388.
InParanoidi O00258.
OMAi ITCWLVV.
OrthoDBi EOG7TJ3KG.
PhylomeDBi O00258.
TreeFami TF314708.

Miscellaneous databases

GenomeRNAii 7485.
NextBioi 29322.
PROi O00258.
SOURCEi Search...

Gene expression databases

Bgeei O00258.
CleanExi HS_CHD5.
HS_WRB.
ExpressionAtlasi O00258. baseline and differential.
Genevestigatori O00258.

Family and domain databases

InterProi IPR028945. WRB/Get1.
[Graphical view ]
Pfami PF04420. CHD5. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification and characterization of a new human cDNA from chromosome 21q22.3 encoding a basic nuclear protein."
    Egeo A., Mazzocco M., Sotgia F., Arrigo P., Oliva R., Bergonon S., Nizetic D., Rasore-Quartino A., Scartezzini P.
    Hum. Genet. 102:289-293(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION.
    Tissue: Heart.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
  3. "The DNA sequence of human chromosome 21."
    Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A.
    , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.
    Nature 405:311-319(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Ovary.
  6. "WRB is the receptor for TRC40/Asna1-mediated insertion of tail-anchored proteins into the ER membrane."
    Vilardi F., Lorenz H., Dobberstein B.
    J. Cell Sci. 124:1301-1307(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, TOPOLOGY, INTERACTION WITH ASNA1/TRC40, SUBCELLULAR LOCATION.

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: October 29, 2014
This is version 106 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

External Data

Dasty 3