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Q9BRT8

- CBWD1_HUMAN

UniProt

Q9BRT8 - CBWD1_HUMAN

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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

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
Complete GO annotation...

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.
ExpressionAtlasiQ9BRT8. baseline.
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. 56 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.
GeneTreeiENSGT00640000091523.
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

        10         20         30         40         50
MLPAVGSADE EEDPAEEDCP ELVPIETTQS EEEEKSGLGA KIPVTIITGY
60 70 80 90 100
LGAGKTTLLN YILTEQHSKR VAVILNEFGE GSALEKSLAV SQGGELYEEW
110 120 130 140 150
LELRNGCLCC SVKDSGLRAI ENLMQKKGKF DYILLETTGL ADPGAVASMF
160 170 180 190 200
WVDAELGSDI YLDGIITIVD SKYGLKHLTE EKPDGLINEA TRQVALADAI
210 220 230 240 250
LINKTDLVPE EDVKKLRTTI RSINGLGQIL ETQRSRVDLS NVLDLHAFDS
260 270 280 290 300
LSGISLQKKL QHVPGTQPHL DQSIVTITFE VPGNAKEEHL NMFIQNLLWE
310 320 330 340 350
KNVRNKDNHC MEVIRLKGLV SIKDKSQQVI VQGVHELYDL EETPVSWKDD
360 370 380 390
TERTNRLVLL GRNLDKDILK QLFIATVTET EKQWTTRFQE DQVCT
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]
ENST00000377400; ENSP00000366617; 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. 56 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 ]
ENST00000377400 ; ENSP00000366617 ; 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.
GeneTreei ENSGT00640000091523.
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.
ExpressionAtlasi Q9BRT8. baseline.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 104 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