CDRTF_HUMAN
ID CDRTF_HUMAN Reviewed; 188 AA.
AC Q96T59; B2RUU5;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 103.
DE RecName: Full=CMT1A duplicated region transcript 15 protein;
GN Name=CDRT15;
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 [GENOMIC DNA], AND 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).
RN [2]
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 -!- TISSUE SPECIFICITY: Expressed in fetal heart, kidney, liver, lung and
CC spleen. {ECO:0000269|PubMed:11381029}.
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DR EMBL; AF355097; AAK39098.1; -; Genomic_DNA.
DR EMBL; BC146859; AAI46860.1; -; mRNA.
DR CCDS; CCDS32569.1; -.
DR RefSeq; NP_001007531.1; NM_001007530.2.
DR AlphaFoldDB; Q96T59; -.
DR BioGRID; 127013; 14.
DR IntAct; Q96T59; 6.
DR MINT; Q96T59; -.
DR STRING; 9606.ENSP00000402355; -.
DR iPTMnet; Q96T59; -.
DR PhosphoSitePlus; Q96T59; -.
DR BioMuta; CDRT15; -.
DR DMDM; 74717324; -.
DR MassIVE; Q96T59; -.
DR PaxDb; Q96T59; -.
DR PeptideAtlas; Q96T59; -.
DR PRIDE; Q96T59; -.
DR ProteomicsDB; 78198; -.
DR Antibodypedia; 71685; 4 antibodies from 4 providers.
DR DNASU; 146822; -.
DR Ensembl; ENST00000420162.7; ENSP00000402355.3; ENSG00000223510.7.
DR GeneID; 146822; -.
DR KEGG; hsa:146822; -.
DR MANE-Select; ENST00000420162.7; ENSP00000402355.3; NM_001007530.3; NP_001007531.1.
DR UCSC; uc010vvu.3; human.
DR CTD; 146822; -.
DR GeneCards; CDRT15; -.
DR HGNC; HGNC:14395; CDRT15.
DR HPA; ENSG00000223510; Tissue enriched (testis).
DR neXtProt; NX_Q96T59; -.
DR OpenTargets; ENSG00000223510; -.
DR PharmGKB; PA26337; -.
DR VEuPathDB; HostDB:ENSG00000223510; -.
DR eggNOG; ENOG502TF2R; Eukaryota.
DR GeneTree; ENSGT00390000011755; -.
DR HOGENOM; CLU_087008_0_0_1; -.
DR InParanoid; Q96T59; -.
DR OMA; IEAQTCA; -.
DR OrthoDB; 1363162at2759; -.
DR PhylomeDB; Q96T59; -.
DR TreeFam; TF342212; -.
DR PathwayCommons; Q96T59; -.
DR SignaLink; Q96T59; -.
DR BioGRID-ORCS; 146822; 31 hits in 1023 CRISPR screens.
DR GenomeRNAi; 146822; -.
DR Pharos; Q96T59; Tdark.
DR PRO; PR:Q96T59; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q96T59; protein.
DR Bgee; ENSG00000223510; Expressed in right testis and 89 other tissues.
DR ExpressionAtlas; Q96T59; baseline and differential.
DR Genevisible; Q96T59; HS.
PE 2: Evidence at transcript level;
KW Reference proteome.
FT CHAIN 1..188
FT /note="CMT1A duplicated region transcript 15 protein"
FT /id="PRO_0000314905"
FT VARIANT 24
FT /note="R -> Q (in dbSNP:rs17679866)"
FT /id="VAR_038121"
FT CONFLICT 87
FT /note="L -> R (in Ref. 2; AAI46860)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 188 AA; 20651 MW; D3654E4F9A5D61BC CRC64;
MFSCCFPTSR GCCFRNGGSE SLFRRCRRRL IPHPRRLSPV VIRRIQVPQD SLGQALAGQA
TPEIPLGLQL HTVLVQEIQE LIEAQTLAPG PCAEVRALPA PAAEPEPAWE EAPPERALEL
EGAPAKDQTN EELPEITEVP ESIKRRLGRR VPAATPAPRG NLLLQAWMRV HSWASRLFAP
NVLPGTGP
