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O00258

- WRB_HUMAN

UniProt

O00258 - WRB_HUMAN

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
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    • History
      Entry version 105 (01 Oct 2014)
      Sequence version 2 (01 Dec 2000)
      Previous versions | rss
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    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

    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 membrane Source: UniProtKB-SubCell
    2. integral component of membrane Source: UniProtKB-KW
    3. nucleus Source: ProtInc

    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

    ArrayExpressiO00258.
    BgeeiO00258.
    CleanExiHS_CHD5.
    HS_WRB.
    GenevestigatoriO00258.

    Organism-specific databases

    HPAiHPA018527.

    Interactioni

    Subunit structurei

    Interacts with ASNA1/TRC40.1 Publication

    Protein-protein interaction databases

    BioGridi113322. 2 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.
    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

    MSSAAADHWA WLLVLSFVFG CNVLRILLPS FSSFMSRVLQ KDAEQESQMR    50
    AEIQDMKQEL STVNMMDEFA RYARLERKIN KMTDKLKTHV KARTAQLAKI 100
    KWVISVAFYV LQAALMISLI WKYYSVPVAV VPSKWITPLD RLVAFPTRVA 150
    GGVGITCWIL VCNKVVAIVL HPFS 174
    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. 2 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.
    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

    ArrayExpressi O00258.
    Bgeei O00258.
    CleanExi HS_CHD5.
    HS_WRB.
    Genevestigatori O00258.

    Family and domain databases

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

    Publicationsi

    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 1, 2014
    This is version 105 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