CBWD3_HUMAN
ID CBWD3_HUMAN Reviewed; 395 AA.
AC Q5JTY5; B4DNG9; Q6VB91;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 15-FEB-2005, sequence version 1.
DT 03-AUG-2022, entry version 120.
DE RecName: Full=COBW domain-containing protein 3;
DE AltName: Full=Cobalamin synthase W domain-containing protein 3;
GN Name=CBWD3;
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).
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Embryo;
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 [3]
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 [4]
RP IDENTIFICATION.
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).
CC -!- INTERACTION:
CC Q5JTY5; Q92870-2: APBB2; NbExp=3; IntAct=EBI-723434, EBI-21535880;
CC Q5JTY5; P55212: CASP6; NbExp=3; IntAct=EBI-723434, EBI-718729;
CC Q5JTY5; P50570-2: DNM2; NbExp=3; IntAct=EBI-723434, EBI-10968534;
CC Q5JTY5; O00291: HIP1; NbExp=3; IntAct=EBI-723434, EBI-473886;
CC Q5JTY5; P42858: HTT; NbExp=6; IntAct=EBI-723434, EBI-466029;
CC Q5JTY5; P13473-2: LAMP2; NbExp=3; IntAct=EBI-723434, EBI-21591415;
CC Q5JTY5; Q7Z412: PEX26; NbExp=3; IntAct=EBI-723434, EBI-752057;
CC Q5JTY5; P62826: RAN; NbExp=3; IntAct=EBI-723434, EBI-286642;
CC Q5JTY5; O14656-2: TOR1A; NbExp=3; IntAct=EBI-723434, EBI-25847109;
CC Q5JTY5; Q96E35: ZMYND19; NbExp=3; IntAct=EBI-723434, EBI-746595;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5JTY5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5JTY5-2; Sequence=VSP_055975;
CC -!- SIMILARITY: Belongs to the SIMIBI class G3E GTPase family. CobW
CC subfamily. {ECO:0000305}.
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DR EMBL; AY344633; AAQ76870.1; -; mRNA.
DR EMBL; AK297912; BAG60231.1; -; mRNA.
DR EMBL; AL353608; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX284632; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS35038.2; -. [Q5JTY5-1]
DR RefSeq; NP_001278750.1; NM_001291821.1. [Q5JTY5-2]
DR RefSeq; NP_958861.2; NM_201453.3. [Q5JTY5-1]
DR RefSeq; XP_005272807.1; XM_005272750.1. [Q5JTY5-2]
DR AlphaFoldDB; Q5JTY5; -.
DR SMR; Q5JTY5; -.
DR BioGRID; 128658; 6.
DR BioGRID; 138650; 164.
DR IntAct; Q5JTY5; 34.
DR STRING; 9606.ENSP00000353295; -.
DR iPTMnet; Q5JTY5; -.
DR PhosphoSitePlus; Q5JTY5; -.
DR BioMuta; CBWD3; -.
DR DMDM; 74742238; -.
DR EPD; Q5JTY5; -.
DR jPOST; Q5JTY5; -.
DR MassIVE; Q5JTY5; -.
DR MaxQB; Q5JTY5; -.
DR PaxDb; Q5JTY5; -.
DR PeptideAtlas; Q5JTY5; -.
DR PRIDE; Q5JTY5; -.
DR Antibodypedia; 73768; 10 antibodies from 5 providers.
DR DNASU; 445571; -.
DR Ensembl; ENST00000360171.11; ENSP00000353295.6; ENSG00000196873.16. [Q5JTY5-1]
DR GeneID; 220869; -.
DR GeneID; 445571; -.
DR KEGG; hsa:445571; -.
DR MANE-Select; ENST00000360171.11; ENSP00000353295.6; NM_201453.4; NP_958861.2.
DR UCSC; uc004agi.6; human. [Q5JTY5-1]
DR CTD; 220869; -.
DR CTD; 445571; -.
DR GeneCards; CBWD3; -.
DR HGNC; HGNC:18519; CBWD3.
DR HPA; ENSG00000196873; Low tissue specificity.
DR MIM; 611080; gene.
DR neXtProt; NX_Q5JTY5; -.
DR OpenTargets; ENSG00000147996; -.
DR OpenTargets; ENSG00000196873; -.
DR PharmGKB; PA134863724; -.
DR VEuPathDB; HostDB:ENSG00000196873; -.
DR eggNOG; KOG2743; Eukaryota.
DR GeneTree; ENSGT00640000091523; -.
DR InParanoid; Q5JTY5; -.
DR OMA; MWGVLRY; -.
DR OrthoDB; 1144889at2759; -.
DR PhylomeDB; Q5JTY5; -.
DR TreeFam; TF332679; -.
DR PathwayCommons; Q5JTY5; -.
DR SignaLink; Q5JTY5; -.
DR BioGRID-ORCS; 220869; 256 hits in 625 CRISPR screens.
DR BioGRID-ORCS; 445571; 647 hits in 937 CRISPR screens.
DR ChiTaRS; CBWD3; human.
DR Pharos; Q5JTY5; Tdark.
DR PRO; PR:Q5JTY5; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q5JTY5; protein.
DR Bgee; ENSG00000196873; Expressed in calcaneal tendon and 97 other tissues.
DR ExpressionAtlas; Q5JTY5; baseline and differential.
DR Genevisible; Q5JTY5; 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 SMART; SM00833; 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 3"
FT /id="PRO_0000317238"
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 145..164
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055975"
FT CONFLICT 132
FT /note="D -> Y (in Ref. 1; AAQ76870)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 395 AA; 44038 MW; 52EE727920F143DE CRC64;
MLPAVGSVDE EEDPAEEDCP ELVPIETTQS EEEEKSGLGA KIPVTIITGY LGAGKTTLLN
YILTEQHSKR VAVILNESGE GSALEKSLAV SQGGELYEEW LELRNGCLCC SVKDNGLRAI
ENLMQKKGKF DDILLETTGL ADPGAVASMF WVDAELGSDI YLDGIITIVD SKYGLKHLTE
EKPDGLINEA TRQVALADII LINKTDLVPE EDVKKLRTTI RSINGLGQIL ETQRSRVDLS
NVLDLHAFDS LSGISLQKKL QHVPGTQPHL DQSIVTITFE VPGNAKEEHL NMFIQNLLWE
KNVRNKDNHC MEVIRLKGLV SIKDKSQQVI VQGVHELYDL EETPVSWKDD TERTNRLVLI
GRNLDKDILK QLFIATVTET EKQWTTHFKE DQVCT
