CBWD5_HUMAN
ID CBWD5_HUMAN Reviewed; 395 AA.
AC Q5RIA9; Q8N7U8;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=COBW domain-containing protein 5;
DE AltName: Full=Cobalamin synthase W domain-containing protein 5;
GN Name=CBWD5;
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 [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
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 [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND VARIANT ALA-147.
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 -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q5RIA9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5RIA9-2; Sequence=VSP_033808;
CC Name=3;
CC IsoId=Q5RIA9-3; Sequence=VSP_040475, VSP_040476;
CC -!- SIMILARITY: Belongs to the SIMIBI class G3E GTPase family. CobW
CC subfamily. {ECO:0000305}.
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DR EMBL; AK097639; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BX284632; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC082271; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS75841.1; -. [Q5RIA9-3]
DR CCDS; CCDS83367.1; -. [Q5RIA9-1]
DR RefSeq; NP_001317597.1; NM_001330668.1. [Q5RIA9-1]
DR AlphaFoldDB; Q5RIA9; -.
DR SMR; Q5RIA9; -.
DR BioGRID; 128658; 6.
DR IntAct; Q5RIA9; 3.
DR iPTMnet; Q5RIA9; -.
DR PhosphoSitePlus; Q5RIA9; -.
DR BioMuta; CBWD5; -.
DR DMDM; 74743388; -.
DR jPOST; Q5RIA9; -.
DR MassIVE; Q5RIA9; -.
DR MaxQB; Q5RIA9; -.
DR PeptideAtlas; Q5RIA9; -.
DR PRIDE; Q5RIA9; -.
DR Antibodypedia; 54586; 13 antibodies from 2 providers.
DR DNASU; 220869; -.
DR Ensembl; ENST00000377395.8; ENSP00000366612.4; ENSG00000147996.17. [Q5RIA9-3]
DR Ensembl; ENST00000382405.8; ENSP00000371842.3; ENSG00000147996.17. [Q5RIA9-1]
DR GeneID; 220869; -.
DR KEGG; hsa:220869; -.
DR MANE-Select; ENST00000382405.8; ENSP00000371842.3; NM_001330668.2; NP_001317597.1.
DR UCSC; uc004aga.6; human. [Q5RIA9-1]
DR CTD; 220869; -.
DR GeneCards; CBWD5; -.
DR HGNC; HGNC:24584; CBWD5.
DR HPA; ENSG00000147996; Low tissue specificity.
DR neXtProt; NX_Q5RIA9; -.
DR OpenTargets; ENSG00000147996; -.
DR VEuPathDB; HostDB:ENSG00000147996; -.
DR GeneTree; ENSGT00640000091523; -.
DR HOGENOM; CLU_017452_0_1_1; -.
DR InParanoid; Q5RIA9; -.
DR OMA; HSQGFET; -.
DR OrthoDB; 1144889at2759; -.
DR PhylomeDB; Q5RIA9; -.
DR TreeFam; TF332679; -.
DR PathwayCommons; Q5RIA9; -.
DR SignaLink; Q5RIA9; -.
DR BioGRID-ORCS; 220869; 256 hits in 625 CRISPR screens.
DR ChiTaRS; CBWD5; human.
DR GenomeRNAi; 220869; -.
DR Pharos; Q5RIA9; Tdark.
DR PRO; PR:Q5RIA9; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q5RIA9; protein.
DR Bgee; ENSG00000147996; Expressed in cerebellar hemisphere and 92 other tissues.
DR ExpressionAtlas; Q5RIA9; baseline and differential.
DR Genevisible; Q5RIA9; 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 2: Evidence at transcript level;
KW Alternative splicing; ATP-binding; Nucleotide-binding; Reference proteome.
FT CHAIN 1..395
FT /note="COBW domain-containing protein 5"
FT /id="PRO_0000317239"
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..291
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_033808"
FT VAR_SEQ 192..220
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_040475"
FT VAR_SEQ 236..254
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_040476"
FT VARIANT 147
FT /note="T -> A (in dbSNP:rs1411096827)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_067710"
FT VARIANT 288
FT /note="E -> D (in dbSNP:rs1168844980)"
FT /id="VAR_067711"
FT CONFLICT 132
FT /note="D -> Y (in Ref. 3; BC082271)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 395 AA; 44068 MW; 57EF7279298143DE CRC64;
MLPAVGSVDE EEDPAEEDCP ELVPIETTQS EEEEKSGLGA KIPVTIITGY LGAGKTTLLN
YILTEQHSKR VAVILNESGE GSALEKSLAV SQGGELYEEW LELRNGCLCC SVKDNGLRAI
ENLMQKKGKF DDILLETTGL ADPGAVTSMF 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
