CDRT1_HUMAN
ID CDRT1_HUMAN Reviewed; 752 AA.
AC O95170; O43848; O95611;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 08-FEB-2011, sequence version 3.
DT 03-AUG-2022, entry version 145.
DE RecName: Full=F-box and WD repeat domain containing protein 10B {ECO:0000305};
DE AltName: Full=CMT1A duplicated region transcript 1 protein;
GN Name=FBXW10B {ECO:0000312|HGNC:HGNC:14379};
GN Synonyms=C17orf1, C17orf1A, CDRT1, HREP;
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), TISSUE SPECIFICITY, AND VARIANT
RP LEU-643.
RC TISSUE=Brain;
RX PubMed=9403059; DOI=10.1006/geno.1997.5012;
RA Kennerson M.L., Nassif N.T., Dawkins J.L., DeKroon R.M., Yang J.G.,
RA Nicholson G.A.;
RT "The Charcot-Marie-Tooth binary repeat contains a gene transcribed from the
RT opposite strand of a partially duplicated region of the COX10 gene.";
RL Genomics 46:61-69(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
RX PubMed=9787083; DOI=10.1006/geno.1998.5453;
RA Kennerson M.L., Nassif N.T., Nicholson G.A.;
RT "Genomic structure and physical mapping of C17orf1: a gene associated with
RT the proximal element of the CMT1A-REP binary repeat.";
RL Genomics 53:110-112(1998).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [4]
RP TISSUE SPECIFICITY.
RX PubMed=11381029; DOI=10.1101/gr.180401;
RA Inoue K., Dewar K., Katsanis N., Reiter L.T., Lander E.S., Devon K.L.,
RA Wyman D.W., Lupski J.R., Birren B.;
RT "The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique
RT genome architectural features and provides insights into the recent
RT evolution of new genes.";
RL Genome Res. 11:1018-1033(2001).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O95170-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O95170-2; Sequence=VSP_040554;
CC -!- TISSUE SPECIFICITY: Expressed in pancreas, heart and skeletal muscle.
CC {ECO:0000269|PubMed:11381029, ECO:0000269|PubMed:9403059}.
CC -!- MISCELLANEOUS: FBXW10B gene is located centromeric to and partially
CC within proximal CMT1A-REP element. CMT1A-REP is a complex binary repeat
CC element flanking a 1.5-Mb DNA region duplicated in Charcot-Marie-Tooth
CC disease type I (CMT1A) or deleted in Hereditary neuropathy (HNPP).
CC -!- SEQUENCE CAUTION:
CC Sequence=AAD10830.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; U43383; AAD10830.1; ALT_FRAME; mRNA.
DR EMBL; U65652; AAC52034.1; -; mRNA.
DR EMBL; AF045592; AAC69998.1; -; Genomic_DNA.
DR EMBL; AF045588; AAC69998.1; JOINED; Genomic_DNA.
DR EMBL; AF045589; AAC69998.1; JOINED; Genomic_DNA.
DR EMBL; AF045590; AAC69998.1; JOINED; Genomic_DNA.
DR EMBL; AF045591; AAC69998.1; JOINED; Genomic_DNA.
DR EMBL; AC005324; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC005838; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS45619.1; -. [O95170-1]
DR RefSeq; NP_006373.2; NM_006382.3. [O95170-1]
DR AlphaFoldDB; O95170; -.
DR SMR; O95170; -.
DR STRING; 9606.ENSP00000379242; -.
DR iPTMnet; O95170; -.
DR PhosphoSitePlus; O95170; -.
DR BioMuta; CDRT1; -.
DR MassIVE; O95170; -.
DR PaxDb; O95170; -.
DR PeptideAtlas; O95170; -.
DR PRIDE; O95170; -.
DR ProteomicsDB; 50684; -. [O95170-1]
DR Antibodypedia; 34849; 2 antibodies from 2 providers.
DR DNASU; 374286; -.
DR Ensembl; ENST00000354433.7; ENSP00000346416.3; ENSG00000241322.11. [O95170-2]
DR Ensembl; ENST00000395906.8; ENSP00000379242.4; ENSG00000241322.11. [O95170-1]
DR GeneID; 374286; -.
DR KEGG; hsa:374286; -.
DR MANE-Select; ENST00000395906.8; ENSP00000379242.4; NM_006382.4; NP_006373.2.
DR UCSC; uc002gov.5; human. [O95170-1]
DR CTD; 374286; -.
DR DisGeNET; 374286; -.
DR GeneCards; CDRT1; -.
DR HGNC; HGNC:14379; FBXW10B.
DR HPA; ENSG00000241322; Tissue enhanced (esophagus, testis).
DR MIM; 604596; gene.
DR neXtProt; NX_O95170; -.
DR OpenTargets; ENSG00000241322; -.
DR VEuPathDB; HostDB:ENSG00000241322; -.
DR eggNOG; KOG0274; Eukaryota.
DR GeneTree; ENSGT00940000158003; -.
DR HOGENOM; CLU_1102501_0_0_1; -.
DR InParanoid; O95170; -.
DR OMA; HRDFISC; -.
DR PhylomeDB; O95170; -.
DR TreeFam; TF329175; -.
DR PathwayCommons; O95170; -.
DR SignaLink; O95170; -.
DR BioGRID-ORCS; 374286; 14 hits in 1035 CRISPR screens.
DR ChiTaRS; CDRT1; human.
DR GenomeRNAi; 374286; -.
DR Pharos; O95170; Tdark.
DR PRO; PR:O95170; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; O95170; protein.
DR Bgee; ENSG00000241322; Expressed in lower esophagus mucosa and 99 other tissues.
DR ExpressionAtlas; O95170; baseline and differential.
DR Genevisible; O95170; HS.
DR Gene3D; 2.130.10.10; -; 1.
DR InterPro; IPR036047; F-box-like_dom_sf.
DR InterPro; IPR020472; G-protein_beta_WD-40_rep.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR019775; WD40_repeat_CS.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR Pfam; PF00400; WD40; 3.
DR PRINTS; PR00320; GPROTEINBRPT.
DR SMART; SM00320; WD40; 5.
DR SUPFAM; SSF50978; SSF50978; 1.
DR SUPFAM; SSF81383; SSF81383; 1.
DR PROSITE; PS00678; WD_REPEATS_1; 1.
DR PROSITE; PS50082; WD_REPEATS_2; 3.
DR PROSITE; PS50294; WD_REPEATS_REGION; 2.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome; Repeat; WD repeat.
FT CHAIN 1..752
FT /note="F-box and WD repeat domain containing protein 10B"
FT /id="PRO_0000315833"
FT REPEAT 169..206
FT /note="WD 1"
FT /evidence="ECO:0000255"
FT REPEAT 451..490
FT /note="WD 2"
FT /evidence="ECO:0000255"
FT REPEAT 493..532
FT /note="WD 3"
FT /evidence="ECO:0000255"
FT REPEAT 534..569
FT /note="WD 4"
FT /evidence="ECO:0000255"
FT REPEAT 572..609
FT /note="WD 5"
FT /evidence="ECO:0000255"
FT REPEAT 611..652
FT /note="WD 6"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..500
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_040554"
FT VARIANT 643
FT /note="F -> L (in dbSNP:rs8078150)"
FT /evidence="ECO:0000269|PubMed:9403059"
FT /id="VAR_038340"
FT CONFLICT 504
FT /note="C -> G (in Ref. 1; AAD10830)"
FT /evidence="ECO:0000305"
FT CONFLICT 619
FT /note="L -> P (in Ref. 1; AAC52034)"
FT /evidence="ECO:0000305"
FT CONFLICT 628
FT /note="V -> I (in Ref. 1; AAC52034/AAD10830)"
FT /evidence="ECO:0000305"
FT CONFLICT 634
FT /note="D -> N (in Ref. 1; AAC52034/AAD10830)"
FT /evidence="ECO:0000305"
FT CONFLICT 644
FT /note="N -> H (in Ref. 1; AAC52034/AAD10830)"
FT /evidence="ECO:0000305"
FT CONFLICT 653
FT /note="A -> T (in Ref. 1; AAD10830)"
FT /evidence="ECO:0000305"
FT CONFLICT 663..664
FT /note="Missing (in Ref. 1; AAD10830)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 752 AA; 85370 MW; C87CA2D9CF76D88F CRC64;
MENLESRLKN APYFRCEKGT DSIPLCRKCE TRVLAWKIFS TKEWFCRIND ISQRRFLVGI
LKQLNSLYLL HYFQNILQTT QGKDFIYNRS RIDLSKKEGK VVKSSLNQML DKTVEQKMKE
ILYWFANSTQ WTKANYTLLL LQMCNPKLLL TAANVIRVLF LREENNISGL NQDITDVCFS
PEKDHSSKSA TSQVYWTAKT QHTSLPLSKA PENEHFLGAA SNPEEPWRNS LRCISEMNRL
FSGKADITKP GYDPCNLLVD LDDIRDLSSG FSKYRDFIRY LPIHLSKYIL RMLDRHTLNK
CASVSQHWAA MAQQVKMDLS AHGFIQNQIT FLQGSYTRGI DPNYANKVSI PVPKMVDDGK
SMRVKHPKWK LRTKNEYNLW TAYQNEETQQ VLMEERNVFC GTYNVRILSD TWDQNRVIHY
SGGDLIAVSS NRKIHLLDII QVKAIPVEFR GHAGSVRALF LCEEENFLLS GSYDLSIRYW
DLKSGVCTRI FGGHQGTITC MDLCKNRLVS GGRDCQVKVW DVDTGKCLKT FRHKDPILAT
RINDTYIVSS CERGLVKVWH IAMAQLVKTL SGHEGAVKCL FFDQWHLLSG STDGLVMAWS
MVGKYERCLM AFKHPKEVLD VSLLFLRVIS ACADGKIRIY NFFNGNCMKV IKANGRGDPV
LSFFIQGNRI SVCHISTFAK RINVGWNGIE PSATAQGGNA SLTECAHVRL HIAGHLPASR
LPVAAVQPMT GGMAPTTAPT HVLAMLILFS GV
