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Q9BRT8

- CBWD1_HUMAN

UniProt

Q9BRT8 - CBWD1_HUMAN

Protein

COBW domain-containing protein 1

Gene

CBWD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 103 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    Functioni

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi49 – 568ATPSequence Analysis
    Nucleotide bindingi110 – 1145ATPSequence Analysis
    Nucleotide bindingi203 – 2064ATPSequence Analysis

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    COBW domain-containing protein 1
    Alternative name(s):
    Cobalamin synthase W domain-containing protein 1
    Short name:
    COBP
    NPC-A-6 COBW domain-containing protein 1
    Short name:
    NPC-A-6
    Gene namesi
    Name:CBWD1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:17134. CBWD1.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA26124.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 395395COBW domain-containing protein 1PRO_0000245523Add
    BLAST

    Proteomic databases

    MaxQBiQ9BRT8.
    PaxDbiQ9BRT8.
    PRIDEiQ9BRT8.

    PTM databases

    PhosphoSiteiQ9BRT8.

    Expressioni

    Tissue specificityi

    Ubiquitously expressed. Up-regulated in cultured astrocytes treated with dopamine.1 Publication

    Inductioni

    Increased expression in response to dopamine treatment.1 Publication

    Gene expression databases

    BgeeiQ9BRT8.
    GenevestigatoriQ9BRT8.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    CNIH4Q9P0031EBI-1054417,EBI-1044341
    GCLMP485071EBI-1054417,EBI-1051387
    METAP1P535821EBI-1054417,EBI-1051435
    SSR4P515711EBI-1054417,EBI-1054539

    Protein-protein interaction databases

    BioGridi120970. 2 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BRT8.
    SMRiQ9BRT8. Positions 42-373.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini274 – 377104CobW C-terminalAdd
    BLAST

    Sequence similaritiesi

    Belongs to the CobW family.Curated
    Contains 1 cobW C-terminal domain.Curated

    Phylogenomic databases

    eggNOGiCOG0523.
    HOVERGENiHBG056297.
    InParanoidiQ9BRT8.
    OMAiQSNELAD.
    OrthoDBiEOG7HHWS8.
    PhylomeDBiQ9BRT8.
    TreeFamiTF332679.

    Family and domain databases

    Gene3Di3.30.1220.10. 1 hit.
    3.40.50.300. 1 hit.
    InterProiIPR011629. Cbl_biosynth_CobW-like_C.
    IPR003495. CobW/HypB/UreG_dom.
    IPR027417. P-loop_NTPase.
    [Graphical view]
    PfamiPF02492. cobW. 1 hit.
    PF07683. CobW_C. 1 hit.
    [Graphical view]
    SMARTiSM00833. CobW_C. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 1 hit.
    SSF90002. SSF90002. 1 hit.

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9BRT8-1) [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

    MLPAVGSADE EEDPAEEDCP ELVPIETTQS EEEEKSGLGA KIPVTIITGY    50
    LGAGKTTLLN YILTEQHSKR VAVILNEFGE GSALEKSLAV SQGGELYEEW 100
    LELRNGCLCC SVKDSGLRAI ENLMQKKGKF DYILLETTGL ADPGAVASMF 150
    WVDAELGSDI YLDGIITIVD SKYGLKHLTE EKPDGLINEA TRQVALADAI 200
    LINKTDLVPE EDVKKLRTTI RSINGLGQIL ETQRSRVDLS NVLDLHAFDS 250
    LSGISLQKKL QHVPGTQPHL DQSIVTITFE VPGNAKEEHL NMFIQNLLWE 300
    KNVRNKDNHC MEVIRLKGLV SIKDKSQQVI VQGVHELYDL EETPVSWKDD 350
    TERTNRLVLL GRNLDKDILK QLFIATVTET EKQWTTRFQE DQVCT 395
    Length:395
    Mass (Da):44,068
    Last modified:June 1, 2001 - v1
    Checksum:iA3E04537A6698C6E
    GO
    Isoform 2 (identifier: Q9BRT8-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-36: Missing.
         37-51: GLGAKIPVTIITGYL → MYFKRAARAFPVLLT

    Show »
    Length:359
    Mass (Da):40,420
    Checksum:i9928D6FBA10020A9
    GO
    Isoform 3 (identifier: Q9BRT8-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         236-254: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:376
    Mass (Da):42,015
    Checksum:iCA0A21FFE9F924F4
    GO
    Isoform 4 (identifier: Q9BRT8-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         114-395: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:113
    Mass (Da):12,172
    Checksum:i52695BDF92C6CFD9
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti25 – 251I → M in AAF68990. (PubMed:11489251)Curated
    Sequence conflicti25 – 251I → M in AAK14935. (PubMed:10931946)Curated
    Sequence conflicti115 – 1151S → N in AAF68990. (PubMed:11489251)Curated
    Sequence conflicti387 – 3893RFQ → HFK in AAK14935. (PubMed:10931946)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti8 – 81A → V.2 Publications
    Corresponds to variant rs16925054 [ dbSNP | Ensembl ].
    VAR_026979

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 3636Missing in isoform 2. 2 PublicationsVSP_019731Add
    BLAST
    Alternative sequencei37 – 5115GLGAK…ITGYL → MYFKRAARAFPVLLT in isoform 2. 2 PublicationsVSP_019732Add
    BLAST
    Alternative sequencei114 – 395282Missing in isoform 4. 1 PublicationVSP_019733Add
    BLAST
    Alternative sequencei236 – 25419Missing in isoform 3. 1 PublicationVSP_019734Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF257330 mRNA. Translation: AAF68990.2.
    AY343911 mRNA. Translation: AAQ76869.1.
    AY320414 mRNA. Translation: AAP73813.1.
    AF212253 mRNA. Translation: AAK14935.1.
    AK315855 mRNA. Translation: BAF98746.1.
    AK290648 mRNA. Translation: BAF83337.1.
    AL449043, AL356244 Genomic DNA. Translation: CAH70542.1.
    AL449043, AL356244 Genomic DNA. Translation: CAH70543.1.
    AL449043, AL356244 Genomic DNA. Translation: CAH70544.1.
    BC005996 mRNA. Translation: AAH05996.1.
    BC009573 mRNA. Translation: AAH09573.1.
    BC013432 mRNA. Translation: AAH13432.1.
    BC132759 mRNA. Translation: AAI32760.1.
    CCDSiCCDS47947.1. [Q9BRT8-3]
    CCDS47948.1. [Q9BRT8-2]
    CCDS6438.1. [Q9BRT8-1]
    RefSeqiNP_001138827.1. NM_001145355.1. [Q9BRT8-2]
    NP_001138828.1. NM_001145356.1. [Q9BRT8-3]
    NP_060961.3. NM_018491.3. [Q9BRT8-1]
    UniGeneiHs.531330.
    Hs.567539.
    Hs.645337.

    Genome annotation databases

    EnsembliENST00000314367; ENSP00000323433; ENSG00000172785. [Q9BRT8-2]
    ENST00000356521; ENSP00000348915; ENSG00000172785. [Q9BRT8-1]
    ENST00000382393; ENSP00000371830; ENSG00000172785. [Q9BRT8-4]
    ENST00000382447; ENSP00000371885; ENSG00000172785. [Q9BRT8-3]
    GeneIDi55871.
    KEGGihsa:55871.
    UCSCiuc003zga.4. human. [Q9BRT8-1]
    uc003zgb.4. human. [Q9BRT8-2]
    uc003zgc.4. human. [Q9BRT8-3]
    uc003zgd.2. human. [Q9BRT8-4]

    Polymorphism databases

    DMDMi74752288.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF257330 mRNA. Translation: AAF68990.2 .
    AY343911 mRNA. Translation: AAQ76869.1 .
    AY320414 mRNA. Translation: AAP73813.1 .
    AF212253 mRNA. Translation: AAK14935.1 .
    AK315855 mRNA. Translation: BAF98746.1 .
    AK290648 mRNA. Translation: BAF83337.1 .
    AL449043 , AL356244 Genomic DNA. Translation: CAH70542.1 .
    AL449043 , AL356244 Genomic DNA. Translation: CAH70543.1 .
    AL449043 , AL356244 Genomic DNA. Translation: CAH70544.1 .
    BC005996 mRNA. Translation: AAH05996.1 .
    BC009573 mRNA. Translation: AAH09573.1 .
    BC013432 mRNA. Translation: AAH13432.1 .
    BC132759 mRNA. Translation: AAI32760.1 .
    CCDSi CCDS47947.1. [Q9BRT8-3 ]
    CCDS47948.1. [Q9BRT8-2 ]
    CCDS6438.1. [Q9BRT8-1 ]
    RefSeqi NP_001138827.1. NM_001145355.1. [Q9BRT8-2 ]
    NP_001138828.1. NM_001145356.1. [Q9BRT8-3 ]
    NP_060961.3. NM_018491.3. [Q9BRT8-1 ]
    UniGenei Hs.531330.
    Hs.567539.
    Hs.645337.

    3D structure databases

    ProteinModelPortali Q9BRT8.
    SMRi Q9BRT8. Positions 42-373.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120970. 2 interactions.

    PTM databases

    PhosphoSitei Q9BRT8.

    Polymorphism databases

    DMDMi 74752288.

    Proteomic databases

    MaxQBi Q9BRT8.
    PaxDbi Q9BRT8.
    PRIDEi Q9BRT8.

    Protocols and materials databases

    DNASUi 55871.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000314367 ; ENSP00000323433 ; ENSG00000172785 . [Q9BRT8-2 ]
    ENST00000356521 ; ENSP00000348915 ; ENSG00000172785 . [Q9BRT8-1 ]
    ENST00000382393 ; ENSP00000371830 ; ENSG00000172785 . [Q9BRT8-4 ]
    ENST00000382447 ; ENSP00000371885 ; ENSG00000172785 . [Q9BRT8-3 ]
    GeneIDi 55871.
    KEGGi hsa:55871.
    UCSCi uc003zga.4. human. [Q9BRT8-1 ]
    uc003zgb.4. human. [Q9BRT8-2 ]
    uc003zgc.4. human. [Q9BRT8-3 ]
    uc003zgd.2. human. [Q9BRT8-4 ]

    Organism-specific databases

    CTDi 55871.
    GeneCardsi GC09M000121.
    HGNCi HGNC:17134. CBWD1.
    MIMi 611078. gene.
    neXtProti NX_Q9BRT8.
    PharmGKBi PA26124.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0523.
    HOVERGENi HBG056297.
    InParanoidi Q9BRT8.
    OMAi QSNELAD.
    OrthoDBi EOG7HHWS8.
    PhylomeDBi Q9BRT8.
    TreeFami TF332679.

    Miscellaneous databases

    GeneWikii CBWD1.
    GenomeRNAii 55871.
    NextBioi 61190.
    PROi Q9BRT8.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9BRT8.
    Genevestigatori Q9BRT8.

    Family and domain databases

    Gene3Di 3.30.1220.10. 1 hit.
    3.40.50.300. 1 hit.
    InterProi IPR011629. Cbl_biosynth_CobW-like_C.
    IPR003495. CobW/HypB/UreG_dom.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    Pfami PF02492. cobW. 1 hit.
    PF07683. CobW_C. 1 hit.
    [Graphical view ]
    SMARTi SM00833. CobW_C. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 1 hit.
    SSF90002. SSF90002. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Identification of dopamine responsive mRNAs in glial cells by suppression subtractive hybridization."
      Shi J., Cai W., Chen X., Ying K., Zhang K., Xie Y.
      Brain Res. 910:29-37(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INDUCTION.
      Tissue: Brain.
    2. "Diverse fates of paralogs following segmental duplication of telomeric genes."
      Wong A., Vallender E.J., Heretis K., Ilkin Y., Lahn B.T., Lese Martin C., Ledbetter D.H.
      Genomics 84:239-247(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANT VAL-8.
    3. "Construction of cDNA expression library from nasopharyngeal carcinoma tissue and screening of antigenic genes."
      Shu J., Li G., He X.
      Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4).
      Tissue: Nasopharyngeal carcinoma.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
      Tissue: Adrenal gland.
    5. "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).
      Tissue: Embryo and Trachea.
    6. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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] (ISOFORMS 1 AND 2), VARIANT VAL-8.
      Tissue: Bone marrow and Kidney.

    Entry informationi

    Entry nameiCBWD1_HUMAN
    AccessioniPrimary (citable) accession number: Q9BRT8
    Secondary accession number(s): A2RU55
    , A8K3N3, B0AZR4, Q49AJ1, Q5VVK2, Q6VBU6, Q7Z5Z0, Q7Z652, Q9BY38, Q9NYD0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 11, 2006
    Last sequence update: June 1, 2001
    Last modified: October 1, 2014
    This is version 103 of the entry and version 1 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 9
      Human chromosome 9: 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