Q9BRT8 (CBWD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:

CBWD1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	395 AA.
Sequence status	Complete.
Protein existence	Evidence 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 diversity	Alternative splicing Polymorphism
Ligand	ATP-binding Nucleotide-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
CNIH4	Q9P003	1	EBI-1054417,EBI-1044341
GCLM	P48507	1	EBI-1054417,EBI-1051387
METAP1	P53582	1	EBI-1054417,EBI-1051435
SSR4	P51571	1	EBI-1054417,EBI-1054539

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 395	395	COBW domain-containing protein 1		PRO_0000245523
Regions
	Domain	274 – 377	104	CobW C-terminal
	Nucleotide binding	49 – 56	8	ATP Potential
	Nucleotide binding	110 – 114	5	ATP Potential
	Nucleotide binding	203 – 206	4	ATP Potential
Natural variations
	Alternative sequence	1 – 36	36	Missing in isoform 2.		VSP_019731
	Alternative sequence	37 – 51	15	GLGAK…ITGYL → MYFKRAARAFPVLLT in isoform 2.		VSP_019732
	Alternative sequence	114 – 395	282	Missing in isoform 4.		VSP_019733
	Alternative sequence	236 – 254	19	Missing in isoform 3.		VSP_019734
	Natural variant	8	1	A → V. Ref.2 Ref.7 Corresponds to variant rs16925054 [ dbSNP | Ensembl ].		VAR_026979
Experimental info
	Sequence conflict	25	1	I → M in AAF68990. Ref.1
	Sequence conflict	25	1	I → M in AAK14935. Ref.4
	Sequence conflict	115	1	S → N in AAF68990. Ref.1
	Sequence conflict	387 – 389	3	RFQ → HFK in AAK14935. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 1, 2001. Version 1. Checksum: A3E04537A6698C6E	FASTA	395	44,068
	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
	Isoform 2 [UniParc]. Checksum: 9928D6FBA10020A9	FASTA	359	40,420
	10 20 30 40 50 60 MYFKRAARAF PVLLTGAGKT TLLNYILTEQ HSKRVAVILN EFGEGSALEK SLAVSQGGEL 70 80 90 100 110 120 YEEWLELRNG CLCCSVKDSG LRAIENLMQK KGKFDYILLE TTGLADPGAV ASMFWVDAEL 130 140 150 160 170 180 GSDIYLDGII TIVDSKYGLK HLTEEKPDGL INEATRQVAL ADAILINKTD LVPEEDVKKL 190 200 210 220 230 240 RTTIRSINGL GQILETQRSR VDLSNVLDLH AFDSLSGISL QKKLQHVPGT QPHLDQSIVT 250 260 270 280 290 300 ITFEVPGNAK EEHLNMFIQN LLWEKNVRNK DNHCMEVIRL KGLVSIKDKS QQVIVQGVHE 310 320 330 340 350 LYDLEETPVS WKDDTERTNR LVLLGRNLDK DILKQLFIAT VTETEKQWTT RFQEDQVCT
	Isoform 3 [UniParc]. Checksum: CA0A21FFE9F924F4	FASTA	376	42,015
	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 ETQRSSLQKK 250 260 270 280 290 300 LQHVPGTQPH LDQSIVTITF EVPGNAKEEH LNMFIQNLLW EKNVRNKDNH CMEVIRLKGL 310 320 330 340 350 360 VSIKDKSQQV IVQGVHELYD LEETPVSWKD DTERTNRLVL LGRNLDKDIL KQLFIATVTE 370 TEKQWTTRFQ EDQVCT
	Isoform 4 [UniParc]. Checksum: 52695BDF92C6CFD9	FASTA	113	12,172
	10 20 30 40 50 60 MLPAVGSADE EEDPAEEDCP ELVPIETTQS EEEEKSGLGA KIPVTIITGY LGAGKTTLLN 70 80 90 100 110 YILTEQHSKR VAVILNEFGE GSALEKSLAV SQGGELYEEW LELRNGCLCC SVK

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.

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.
IPI	IPI00305163. IPI00645209. IPI00748308. IPI00930449.
RefSeq	NP_001138827.1. NM_001145355.1. NP_001138828.1. NM_001145356.1. NP_060961.3. NM_018491.3.
UniGene	Hs.531330. Hs.567539. Hs.645337.
3D structure databases
ProteinModelPortal	Q9BRT8.
ModBase	Search...
PTM databases
PhosphoSite	Q9BRT8.
Polymorphism databases
DMDM	74752288.
Proteomic databases
PaxDb	Q9BRT8.
PRIDE	Q9BRT8.
Protocols and materials databases
DNASU	55871.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000314367; ENSP00000323433; ENSG00000172785. ENST00000356521; ENSP00000348915; ENSG00000172785. ENST00000382393; ENSP00000371830; ENSG00000172785. ENST00000382447; ENSP00000371885; ENSG00000172785.
GeneID	55871.
KEGG	hsa:55871.
UCSC	uc003zga.4. human. uc003zgb.4. human. uc003zgc.4. human. uc003zgd.2. human.
Organism-specific databases
CTD	55871.
GeneCards	GC09M000121.
HGNC	HGNC:17134. CBWD1.
MIM	611078. gene.
neXtProt	NX_Q9BRT8.
PharmGKB	PA26124.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0523.
HOVERGEN	HBG056297.
InParanoid	Q9BRT8.
OMA	FIQDLLW.
OrthoDB	EOG4HDSTR.
Gene expression databases
ArrayExpress	Q9BRT8.
Bgee	Q9BRT8.
Genevestigator	Q9BRT8.
GermOnline	ENSG00000147996. Homo sapiens.
Family and domain databases
Gene3D	3.30.1220.10. 1 hit.
InterPro	IPR011629. Cbl_biosynth_CobW-like_C. IPR003495. CobW/HypB/UreG_dom. [Graphical view]
Pfam	PF02492. cobW. 1 hit. PF07683. CobW_C. 1 hit. [Graphical view]
SMART	SM00833. CobW_C. 1 hit. [Graphical view]
SUPFAM	SSF90002. Cbl_biosynth_CobW-like_C. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	55871.
NextBio	61190.
SOURCE	Search...

Entry information

Entry name

CBWD1_HUMAN

Accession

Primary (citable) accession number: Q9BRT8
Secondary accession number(s): A2RU55 , 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:	May 1, 2013
This is version 91 of the entry and version 1 of the sequence. [Complete history]

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.