CBWD2_HUMAN
ID CBWD2_HUMAN Reviewed; 395 AA.
AC Q8IUF1; Q0VAN3;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 142.
DE RecName: Full=COBW domain-containing protein 2;
DE AltName: Full=Cobalamin synthase W domain-containing protein 2;
GN Name=CBWD2;
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].
RX PubMed=12421752; DOI=10.1101/gr.338402;
RA Fan Y., Newman T., Linardopoulou E., Trask B.J.;
RT "Gene content and function of the ancestral chromosome fusion site in human
RT chromosome 2q13-2q14.1 and paralogous regions.";
RL Genome Res. 12:1663-1672(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
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 [LARGE SCALE MRNA].
RC TISSUE=Substantia nigra;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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).
CC -!- SIMILARITY: Belongs to the SIMIBI class G3E GTPase family. CobW
CC subfamily. {ECO:0000305}.
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DR EMBL; AF452722; AAN64907.1; -; mRNA.
DR EMBL; AY343910; AAQ76868.1; -; mRNA.
DR EMBL; AK290072; BAF82761.1; -; mRNA.
DR EMBL; AC016745; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL078621; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC120991; AAI20992.1; -; mRNA.
DR EMBL; BC120992; AAI20993.1; -; mRNA.
DR CCDS; CCDS2116.1; -.
DR RefSeq; NP_742000.1; NM_172003.3.
DR AlphaFoldDB; Q8IUF1; -.
DR SMR; Q8IUF1; -.
DR BioGRID; 127299; 88.
DR IntAct; Q8IUF1; 14.
DR MINT; Q8IUF1; -.
DR STRING; 9606.ENSP00000259199; -.
DR iPTMnet; Q8IUF1; -.
DR PhosphoSitePlus; Q8IUF1; -.
DR BioMuta; CBWD2; -.
DR DMDM; 74714301; -.
DR EPD; Q8IUF1; -.
DR jPOST; Q8IUF1; -.
DR MassIVE; Q8IUF1; -.
DR MaxQB; Q8IUF1; -.
DR PaxDb; Q8IUF1; -.
DR PeptideAtlas; Q8IUF1; -.
DR PRIDE; Q8IUF1; -.
DR ProteomicsDB; 70557; -.
DR Antibodypedia; 59948; 48 antibodies from 11 providers.
DR DNASU; 150472; -.
DR Ensembl; ENST00000259199.9; ENSP00000259199.4; ENSG00000136682.16.
DR GeneID; 150472; -.
DR KEGG; hsa:150472; -.
DR MANE-Select; ENST00000259199.9; ENSP00000259199.4; NM_172003.3; NP_742000.1.
DR UCSC; uc002tju.4; human.
DR CTD; 150472; -.
DR GeneCards; CBWD2; -.
DR HGNC; HGNC:17907; CBWD2.
DR HPA; ENSG00000136682; Low tissue specificity.
DR MIM; 611079; gene.
DR neXtProt; NX_Q8IUF1; -.
DR OpenTargets; ENSG00000136682; -.
DR PharmGKB; PA26125; -.
DR VEuPathDB; HostDB:ENSG00000136682; -.
DR eggNOG; KOG2743; Eukaryota.
DR GeneTree; ENSGT00940000164995; -.
DR InParanoid; Q8IUF1; -.
DR OMA; WLQSVLW; -.
DR OrthoDB; 1144889at2759; -.
DR PhylomeDB; Q8IUF1; -.
DR TreeFam; TF332679; -.
DR PathwayCommons; Q8IUF1; -.
DR SignaLink; Q8IUF1; -.
DR BioGRID-ORCS; 150472; 362 hits in 636 CRISPR screens.
DR ChiTaRS; CBWD2; human.
DR GenomeRNAi; 150472; -.
DR Pharos; Q8IUF1; Tdark.
DR PRO; PR:Q8IUF1; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q8IUF1; protein.
DR Bgee; ENSG00000136682; Expressed in monocyte and 95 other tissues.
DR ExpressionAtlas; Q8IUF1; baseline and differential.
DR Genevisible; Q8IUF1; 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 2: Evidence at transcript level;
KW ATP-binding; Nucleotide-binding; Reference proteome.
FT CHAIN 1..395
FT /note="COBW domain-containing protein 2"
FT /id="PRO_0000316813"
FT DOMAIN 274..377
FT /note="CobW C-terminal"
FT REGION 1..36
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 CONFLICT 242
FT /note="V -> I (in Ref. 5; AAI20992)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 395 AA; 44034 MW; D1BAA6864670939F CRC64;
MLPAVGSADE EEDPAEEDCP ELVPMETTQS EEEEKSGLGA KIPVTIITGY LGAGKTTLLN
YILTEQHSKR VAVILNEFGE GSALEKSLAV SQGGELYEEW LELRNGCLCC SVKDNGLRAI
ENLMQKKGKF DYILLETTGL ADPGAVASMF WVDAELGSDI YLDGIITIVD SKYGLKHLAE
EKPDGLINEA TRQVALADAI LINKTDLVPE EDVKKLRATI RSINGLGQIL ETQRSRVDLS
NVLDLHAFDS LSGISLQKKL QHVPGTQPHL DQSIVTITFE VPGNAKEEHL NMFIQNLLWE
KNVRNKDNHC MEVIRLKGLV SIKDKSQQVI VQGVHELYDL EETPVSWKDD TERTNRLVLL
GRNLDKDILK QLFIATVTET EKQWTTHFKE DQVCT
