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Q9BRT8 (CBWD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 102. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:CBWD1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length395 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Tissue specificity

Ubiquitously expressed. Up-regulated in cultured astrocytes treated with dopamine. Ref.2

Induction

Increased expression in response to dopamine treatment. Ref.1

Sequence similarities

Belongs to the CobW family.

Contains 1 cobW C-terminal domain.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   LigandATP-binding
Nucleotide-binding
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Molecular_functionATP binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9BRT8-1)

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: Q9BRT8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-36: Missing.
     37-51: GLGAKIPVTIITGYL → MYFKRAARAFPVLLT
Isoform 3 (identifier: Q9BRT8-3)

The sequence of this isoform differs from the canonical sequence as follows:
     236-254: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q9BRT8-4)

The sequence of this isoform differs from the canonical sequence as follows:
     114-395: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 395395COBW domain-containing protein 1
PRO_0000245523

Regions

Domain274 – 377104CobW C-terminal
Nucleotide binding49 – 568ATP Potential
Nucleotide binding110 – 1145ATP Potential
Nucleotide binding203 – 2064ATP Potential

Natural variations

Alternative sequence1 – 3636Missing in isoform 2.
VSP_019731
Alternative sequence37 – 5115GLGAK…ITGYL → MYFKRAARAFPVLLT in isoform 2.
VSP_019732
Alternative sequence114 – 395282Missing in isoform 4.
VSP_019733
Alternative sequence236 – 25419Missing in isoform 3.
VSP_019734
Natural variant81A → V. Ref.2 Ref.7
Corresponds to variant rs16925054 [ dbSNP | Ensembl ].
VAR_026979

Experimental info

Sequence conflict251I → M in AAF68990. Ref.1
Sequence conflict251I → M in AAK14935. Ref.4
Sequence conflict1151S → N in AAF68990. Ref.1
Sequence conflict387 – 3893RFQ → HFK in AAK14935. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 1, 2001. Version 1.
Checksum: A3E04537A6698C6E

FASTA39544,068
        10         20         30         40         50         60 
MLPAVGSADE EEDPAEEDCP ELVPIETTQS EEEEKSGLGA KIPVTIITGY LGAGKTTLLN 

        70         80         90        100        110        120 
YILTEQHSKR VAVILNEFGE GSALEKSLAV SQGGELYEEW LELRNGCLCC SVKDSGLRAI 

       130        140        150        160        170        180 
ENLMQKKGKF DYILLETTGL ADPGAVASMF WVDAELGSDI YLDGIITIVD SKYGLKHLTE 

       190        200        210        220        230        240 
EKPDGLINEA TRQVALADAI LINKTDLVPE EDVKKLRTTI RSINGLGQIL ETQRSRVDLS 

       250        260        270        280        290        300 
NVLDLHAFDS LSGISLQKKL QHVPGTQPHL DQSIVTITFE VPGNAKEEHL NMFIQNLLWE 

       310        320        330        340        350        360 
KNVRNKDNHC MEVIRLKGLV SIKDKSQQVI VQGVHELYDL EETPVSWKDD TERTNRLVLL 

       370        380        390 
GRNLDKDILK QLFIATVTET EKQWTTRFQE DQVCT 

« Hide

Isoform 2 [UniParc].

Checksum: 9928D6FBA10020A9
Show »

FASTA35940,420
Isoform 3 [UniParc].

Checksum: CA0A21FFE9F924F4
Show »

FASTA37642,015
Isoform 4 [UniParc].

Checksum: 52695BDF92C6CFD9
Show »

FASTA11312,172

References

« Hide 'large scale' references
[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]"Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning."
Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X., Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H., Gu B.-W., Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M. expand/collapse author list , Zhou J., Xu S.-H., Gu J., Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M., Huang G.-Y., Chen Z., Chen M.-D., Chen J.-L.
Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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. expand/collapse author list , 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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS47947.1. [Q9BRT8-3]
CCDS47948.1. [Q9BRT8-2]
CCDS6438.1. [Q9BRT8-1]
RefSeqNP_001138827.1. NM_001145355.1. [Q9BRT8-2]
NP_001138828.1. NM_001145356.1. [Q9BRT8-3]
NP_060961.3. NM_018491.3. [Q9BRT8-1]
UniGeneHs.531330.
Hs.567539.
Hs.645337.

3D structure databases

ProteinModelPortalQ9BRT8.
SMRQ9BRT8. Positions 42-373.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120970. 2 interactions.

PTM databases

PhosphoSiteQ9BRT8.

Polymorphism databases

DMDM74752288.

Proteomic databases

MaxQBQ9BRT8.
PaxDbQ9BRT8.
PRIDEQ9BRT8.

Protocols and materials databases

DNASU55871.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000314367; ENSP00000323433; ENSG00000172785. [Q9BRT8-2]
ENST00000356521; ENSP00000348915; ENSG00000172785. [Q9BRT8-1]
ENST00000382393; ENSP00000371830; ENSG00000172785. [Q9BRT8-4]
ENST00000382447; ENSP00000371885; ENSG00000172785. [Q9BRT8-3]
GeneID55871.
KEGGhsa:55871.
UCSCuc003zga.4. human. [Q9BRT8-1]
uc003zgb.4. human. [Q9BRT8-2]
uc003zgc.4. human. [Q9BRT8-3]
uc003zgd.2. human. [Q9BRT8-4]

Organism-specific databases

CTD55871.
GeneCardsGC09M000121.
HGNCHGNC:17134. CBWD1.
MIM611078. gene.
neXtProtNX_Q9BRT8.
PharmGKBPA26124.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0523.
HOVERGENHBG056297.
InParanoidQ9BRT8.
OMAQSNELAD.
OrthoDBEOG7HHWS8.
PhylomeDBQ9BRT8.
TreeFamTF332679.

Gene expression databases

BgeeQ9BRT8.
GenevestigatorQ9BRT8.

Family and domain databases

Gene3D3.30.1220.10. 1 hit.
3.40.50.300. 1 hit.
InterProIPR011629. Cbl_biosynth_CobW-like_C.
IPR003495. CobW/HypB/UreG_dom.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamPF02492. cobW. 1 hit.
PF07683. CobW_C. 1 hit.
[Graphical view]
SMARTSM00833. CobW_C. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 1 hit.
SSF90002. SSF90002. 1 hit.
ProtoNetSearch...

Other

GeneWikiCBWD1.
GenomeRNAi55871.
NextBio61190.
PROQ9BRT8.
SOURCESearch...

Entry information

Entry nameCBWD1_HUMAN
AccessionPrimary (citable) accession number: Q9BRT8
Secondary accession number(s): A2RU55 expand/collapse secondary AC list , A8K3N3, B0AZR4, Q49AJ1, Q5VVK2, Q6VBU6, Q7Z5Z0, Q7Z652, Q9BY38, Q9NYD0
Entry history
Integrated into UniProtKB/Swiss-Prot: July 11, 2006
Last sequence update: June 1, 2001
Last modified: July 9, 2014
This is version 102 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM