CBWD1_HUMAN
ID CBWD1_HUMAN Reviewed; 395 AA.
AC Q9BRT8; A2RU55; A8K3N3; B0AZR4; Q49AJ1; Q5VVK2; Q6VBU6; Q7Z5Z0; Q7Z652;
AC Q9BY38; Q9NYD0;
DT 11-JUL-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 157.
DE RecName: Full=COBW domain-containing protein 1;
DE AltName: Full=Cobalamin synthase W domain-containing protein 1;
DE Short=COBP;
DE AltName: Full=NPC-A-6 COBW domain-containing protein 1;
DE Short=NPC-A-6;
GN Name=CBWD1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND INDUCTION.
RC TISSUE=Brain;
RX PubMed=11489251; DOI=10.1016/s0006-8993(01)02393-9;
RA Shi J., Cai W., Chen X., Ying K., Zhang K., Xie Y.;
RT "Identification of dopamine responsive mRNAs in glial cells by suppression
RT subtractive hybridization.";
RL Brain Res. 910:29-37(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, AND VARIANT
RP VAL-8.
RX PubMed=15233989; DOI=10.1016/j.ygeno.2004.03.001;
RA Wong A., Vallender E.J., Heretis K., Ilkin Y., Lahn B.T., Lese Martin C.,
RA Ledbetter D.H.;
RT "Diverse fates of paralogs following segmental duplication of telomeric
RT genes.";
RL Genomics 84:239-247(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4).
RC TISSUE=Nasopharyngeal carcinoma;
RA Shu J., Li G., He X.;
RT "Construction of cDNA expression library from nasopharyngeal carcinoma
RT tissue and screening of antigenic genes.";
RL Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Adrenal gland;
RX PubMed=10931946; DOI=10.1073/pnas.160270997;
RA Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X.,
RA Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H., Gu B.-W.,
RA Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M., Zhou J., Xu S.-H., Gu J.,
RA Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M., Huang G.-Y., Chen Z.,
RA Chen M.-D., Chen J.-L.;
RT "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis
RT and full-length cDNA cloning.";
RL Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Embryo, and Trachea;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP VAL-8.
RC TISSUE=Bone marrow, and Kidney;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [8]
RP INDUCTION.
RX PubMed=25582195; DOI=10.1128/mcb.01298-14;
RA Ogo O.A., Tyson J., Cockell S.J., Howard A., Valentine R.A., Ford D.;
RT "The zinc finger protein ZNF658 regulates the transcription of genes
RT involved in zinc homeostasis and affects ribosome biogenesis through the
RT zinc transcriptional regulatory element.";
RL Mol. Cell. Biol. 35:977-987(2015).
CC -!- INTERACTION:
CC Q9BRT8; Q8WUW1: BRK1; NbExp=3; IntAct=EBI-1054417, EBI-2837444;
CC Q9BRT8; O75460-2: ERN1; NbExp=3; IntAct=EBI-1054417, EBI-25852368;
CC Q9BRT8; Q0VDC6: FKBP1A; NbExp=3; IntAct=EBI-1054417, EBI-10226858;
CC Q9BRT8; P01100: FOS; NbExp=3; IntAct=EBI-1054417, EBI-852851;
CC Q9BRT8; P62993: GRB2; NbExp=3; IntAct=EBI-1054417, EBI-401755;
CC Q9BRT8; Q99909: SSX3; NbExp=3; IntAct=EBI-1054417, EBI-10295431;
CC Q9BRT8; P31930: UQCRC1; NbExp=3; IntAct=EBI-1054417, EBI-1052596;
CC Q9BRT8; Q96E35: ZMYND19; NbExp=3; IntAct=EBI-1054417, EBI-746595;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q9BRT8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BRT8-2; Sequence=VSP_019731, VSP_019732;
CC Name=3;
CC IsoId=Q9BRT8-3; Sequence=VSP_019734;
CC Name=4;
CC IsoId=Q9BRT8-4; Sequence=VSP_019733;
CC -!- TISSUE SPECIFICITY: Ubiquitously expressed. Up-regulated in cultured
CC astrocytes treated with dopamine. {ECO:0000269|PubMed:15233989}.
CC -!- INDUCTION: Increased expression in response to dopamine treatment.
CC Down-regulated by ZNF658 in response to zinc.
CC {ECO:0000269|PubMed:11489251, ECO:0000269|PubMed:25582195}.
CC -!- SIMILARITY: Belongs to the SIMIBI class G3E GTPase family. CobW
CC subfamily. {ECO:0000305}.
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DR EMBL; AF257330; AAF68990.2; -; mRNA.
DR EMBL; AY343911; AAQ76869.1; -; mRNA.
DR EMBL; AY320414; AAP73813.1; -; mRNA.
DR EMBL; AF212253; AAK14935.1; -; mRNA.
DR EMBL; AK315855; BAF98746.1; -; mRNA.
DR EMBL; AK290648; BAF83337.1; -; mRNA.
DR EMBL; AL356244; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL449043; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC005996; AAH05996.1; -; mRNA.
DR EMBL; BC009573; AAH09573.1; -; mRNA.
DR EMBL; BC013432; AAH13432.1; -; mRNA.
DR EMBL; BC132759; AAI32760.1; -; mRNA.
DR CCDS; CCDS47947.1; -. [Q9BRT8-3]
DR CCDS; CCDS47948.1; -. [Q9BRT8-2]
DR CCDS; CCDS6438.1; -. [Q9BRT8-1]
DR RefSeq; NP_001138827.1; NM_001145355.1. [Q9BRT8-2]
DR RefSeq; NP_001138828.1; NM_001145356.1. [Q9BRT8-3]
DR RefSeq; NP_060961.3; NM_018491.3. [Q9BRT8-1]
DR AlphaFoldDB; Q9BRT8; -.
DR SMR; Q9BRT8; -.
DR BioGRID; 120970; 250.
DR IntAct; Q9BRT8; 71.
DR STRING; 9606.ENSP00000366617; -.
DR iPTMnet; Q9BRT8; -.
DR PhosphoSitePlus; Q9BRT8; -.
DR BioMuta; CBWD1; -.
DR DMDM; 74752288; -.
DR EPD; Q9BRT8; -.
DR jPOST; Q9BRT8; -.
DR MassIVE; Q9BRT8; -.
DR MaxQB; Q9BRT8; -.
DR PaxDb; Q9BRT8; -.
DR PeptideAtlas; Q9BRT8; -.
DR PRIDE; Q9BRT8; -.
DR ProteomicsDB; 78831; -. [Q9BRT8-1]
DR ProteomicsDB; 78832; -. [Q9BRT8-2]
DR ProteomicsDB; 78833; -. [Q9BRT8-3]
DR ProteomicsDB; 78834; -. [Q9BRT8-4]
DR Antibodypedia; 55445; 201 antibodies from 15 providers.
DR DNASU; 55871; -.
DR Ensembl; ENST00000314367.14; ENSP00000323433.10; ENSG00000172785.18. [Q9BRT8-2]
DR Ensembl; ENST00000356521.8; ENSP00000348915.4; ENSG00000172785.18. [Q9BRT8-1]
DR Ensembl; ENST00000377400.8; ENSP00000366617.5; ENSG00000172785.18. [Q9BRT8-1]
DR Ensembl; ENST00000382393.2; ENSP00000371830.1; ENSG00000172785.18. [Q9BRT8-4]
DR Ensembl; ENST00000382447.8; ENSP00000371885.4; ENSG00000172785.18. [Q9BRT8-3]
DR GeneID; 55871; -.
DR KEGG; hsa:55871; -.
DR MANE-Select; ENST00000356521.9; ENSP00000348915.4; NM_018491.5; NP_060961.3.
DR UCSC; uc003zga.5; human. [Q9BRT8-1]
DR CTD; 55871; -.
DR DisGeNET; 55871; -.
DR GeneCards; CBWD1; -.
DR HGNC; HGNC:17134; CBWD1.
DR HPA; ENSG00000172785; Low tissue specificity.
DR MIM; 611078; gene.
DR neXtProt; NX_Q9BRT8; -.
DR OpenTargets; ENSG00000172785; -.
DR PharmGKB; PA26124; -.
DR VEuPathDB; HostDB:ENSG00000172785; -.
DR eggNOG; KOG2743; Eukaryota.
DR GeneTree; ENSGT00940000164995; -.
DR HOGENOM; CLU_2236423_0_0_1; -.
DR InParanoid; Q9BRT8; -.
DR OMA; FWQNEEF; -.
DR OrthoDB; 1144889at2759; -.
DR PhylomeDB; Q9BRT8; -.
DR TreeFam; TF332679; -.
DR PathwayCommons; Q9BRT8; -.
DR SignaLink; Q9BRT8; -.
DR BioGRID-ORCS; 55871; 345 hits in 971 CRISPR screens.
DR ChiTaRS; CBWD1; human.
DR GeneWiki; CBWD1; -.
DR GenomeRNAi; 55871; -.
DR Pharos; Q9BRT8; Tbio.
DR PRO; PR:Q9BRT8; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q9BRT8; protein.
DR Bgee; ENSG00000172785; Expressed in adrenal tissue and 104 other tissues.
DR ExpressionAtlas; Q9BRT8; baseline and differential.
DR Genevisible; Q9BRT8; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR Gene3D; 3.30.1220.10; -; 1.
DR Gene3D; 3.40.50.300; -; 1.
DR InterPro; IPR011629; Cbl_biosynth_CobW-like_C.
DR InterPro; IPR036627; CobW-likC_sf.
DR InterPro; IPR003495; CobW/HypB/UreG_dom.
DR InterPro; IPR027417; P-loop_NTPase.
DR Pfam; PF02492; cobW; 1.
DR Pfam; PF07683; CobW_C; 1.
DR SUPFAM; SSF52540; SSF52540; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; ATP-binding; Nucleotide-binding; Reference proteome.
FT CHAIN 1..395
FT /note="COBW domain-containing protein 1"
FT /id="PRO_0000245523"
FT DOMAIN 274..377
FT /note="CobW C-terminal"
FT REGION 1..22
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 49..56
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT BINDING 110..114
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT BINDING 203..206
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..36
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_019731"
FT VAR_SEQ 37..51
FT /note="GLGAKIPVTIITGYL -> MYFKRAARAFPVLLT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_019732"
FT VAR_SEQ 114..395
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|Ref.3"
FT /id="VSP_019733"
FT VAR_SEQ 236..254
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:10931946"
FT /id="VSP_019734"
FT VARIANT 8
FT /note="A -> V (in dbSNP:rs16925054)"
FT /evidence="ECO:0000269|PubMed:15233989,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_026979"
FT CONFLICT 25
FT /note="I -> M (in Ref. 1; AAF68990 and 4; AAK14935)"
FT /evidence="ECO:0000305"
FT CONFLICT 115
FT /note="S -> N (in Ref. 1; AAF68990)"
FT /evidence="ECO:0000305"
FT CONFLICT 387..389
FT /note="RFQ -> HFK (in Ref. 4; AAK14935)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 395 AA; 44068 MW; A3E04537A6698C6E CRC64;
MLPAVGSADE EEDPAEEDCP ELVPIETTQS EEEEKSGLGA KIPVTIITGY LGAGKTTLLN
YILTEQHSKR VAVILNEFGE GSALEKSLAV SQGGELYEEW LELRNGCLCC SVKDSGLRAI
ENLMQKKGKF DYILLETTGL ADPGAVASMF WVDAELGSDI YLDGIITIVD SKYGLKHLTE
EKPDGLINEA TRQVALADAI LINKTDLVPE EDVKKLRTTI RSINGLGQIL ETQRSRVDLS
NVLDLHAFDS LSGISLQKKL QHVPGTQPHL DQSIVTITFE VPGNAKEEHL NMFIQNLLWE
KNVRNKDNHC MEVIRLKGLV SIKDKSQQVI VQGVHELYDL EETPVSWKDD TERTNRLVLL
GRNLDKDILK QLFIATVTET EKQWTTRFQE DQVCT
