O00258 (WRB_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 92.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Tail-anchored protein insertion receptor WRB Alternative name(s): Congenital heart disease 5 protein Tryptophan-rich basic protein Short name=WRB | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 174 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Receptor for ASNA1/TRC40-mediated insertion of tail-anchored (TA) proteins into the ER membrane. Ref.6 |
| Subunit structure | Interacts with ASNA1/TRC40. Ref.6 |
| Subcellular location | Endoplasmic reticulum membrane; Multi-pass membrane protein Ref.1 Ref.6. |
| Sequence similarities | Belongs to the WRB/GET1 family. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Endoplasmic reticulum Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil Transmembrane Transmembrane helix |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular_component | endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membraneInferred from electronic annotation. Source: UniProtKB-KW nucleolusInferred from direct assay. Source: HPA |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: O00258-1) 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. | ||||||
| Isoform 2 (identifier: O00258-2) The sequence of this isoform differs from the canonical sequence as follows: 1-34: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 174 | 174 | Tail-anchored protein insertion receptor WRB | PRO_0000065979 | |||||
Regions | |||||||||
| Topological domain | 1 – 8 | 8 | Lumenal Potential | ||||||
| Transmembrane | 9 – 29 | 21 | Helical; Potential | ||||||
| Topological domain | 30 – 99 | 70 | Cytoplasmic Potential | ||||||
| Transmembrane | 100 – 120 | 21 | Helical; Potential | ||||||
| Topological domain | 121 – 148 | 28 | Lumenal Potential | ||||||
| Transmembrane | 149 – 169 | 21 | Helical; Potential | ||||||
| Topological domain | 170 – 174 | 5 | Cytoplasmic Potential | ||||||
| Region | 39 – 97 | 59 | Interaction with ASNA1/TRC40 | ||||||
| Coiled coil | 39 – 94 | 56 | Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 34 | 34 | Missing in isoform 2. | VSP_043081 | |||||
| Natural variant | 110 | 1 | V → I. Corresponds to variant rs35946782 [ dbSNP | Ensembl ]. | VAR_051491 | |||||
Experimental info | |||||||||
| Sequence conflict | 31 | 1 | F → I in CAA73081. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [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. 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. Yaspo M.-L.Nature 405:311-319(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases 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. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | 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. |
| IPI | IPI00010873. IPI00658165. |
| RefSeq | NP_001139690.1. NM_001146218.1. NP_004618.2. NM_004627.4. |
| UniGene | Hs.198308. |
3D structure databases | |
| ProteinModelPortal | O00258. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000327716. |
PTM databases | |
| PhosphoSite | O00258. |
Proteomic databases | |
| PaxDb | O00258. |
| PRIDE | O00258. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000333781; ENSP00000327716; ENSG00000182093. ENST00000380708; ENSP00000370084; ENSG00000182093. ENST00000398753; ENSP00000381737; ENSG00000182093. |
| GeneID | 7485. |
| KEGG | hsa:7485. |
| UCSC | uc002yxs.3. human. |
Organism-specific databases | |
| CTD | 7485. |
| GeneCards | GC21P040752. |
| HGNC | HGNC:12790. WRB. |
| HPA | HPA018527. |
| MIM | 602915. gene. |
| neXtProt | NX_O00258. |
| PharmGKB | PA37391. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG287621. |
| HOGENOM | HOG000013223. |
| HOVERGEN | HBG010388. |
| InParanoid | O00258. |
| OMA | ITCWLVV. |
| OrthoDB | EOG4KSPKW. |
| PhylomeDB | O00258. |
Gene expression databases | |
| ArrayExpress | O00258. |
| Bgee | O00258. |
| CleanEx | HS_CHD5. HS_WRB. |
| Genevestigator | O00258. |
| GermOnline | ENSG00000182093. Homo sapiens. |
Family and domain databases | |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 7485. |
| NextBio | 29322. |
| SOURCE | Search... |
Entry information
| Entry name | WRB_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O00258 Secondary accession number(s): A8KAP8 O60740 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 21 Human chromosome 21: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
