CDRT4_HUMAN
ID CDRT4_HUMAN Reviewed; 152 AA.
AC Q8N9R6; A8MSL9; D3DTT2; Q8IZ19;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 10-APR-2019, sequence version 3.
DT 03-AUG-2022, entry version 129.
DE RecName: Full=CMT1A duplicated region transcript 4 protein;
GN Name=CDRT4;
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].
RC TISSUE=Uterus;
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=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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
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).
RN [5]
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 -!- INTERACTION:
CC Q8N9R6; Q08AM6: VAC14; NbExp=7; IntAct=EBI-10176618, EBI-2107455;
CC -!- TISSUE SPECIFICITY: Expressed in fetal skeletal muscle and kidney.
CC {ECO:0000269|PubMed:11381029}.
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DR EMBL; AK093993; BAC04263.1; -; mRNA.
DR EMBL; AC005517; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; KF573687; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471108; EAW89938.1; -; Genomic_DNA.
DR EMBL; CH471108; EAW89941.1; -; Genomic_DNA.
DR EMBL; BC029542; AAH29542.2; -; mRNA.
DR CCDS; CCDS73995.1; -.
DR RefSeq; NP_001191406.1; NM_001204477.1.
DR AlphaFoldDB; Q8N9R6; -.
DR SMR; Q8N9R6; -.
DR BioGRID; 129739; 2.
DR IntAct; Q8N9R6; 1.
DR STRING; 9606.ENSP00000482523; -.
DR GlyGen; Q8N9R6; 1 site, 1 O-linked glycan (1 site).
DR BioMuta; CDRT4; -.
DR DMDM; 296434438; -.
DR MassIVE; Q8N9R6; -.
DR PaxDb; Q8N9R6; -.
DR PRIDE; Q8N9R6; -.
DR ProteomicsDB; 12761; -.
DR ProteomicsDB; 72575; -.
DR Antibodypedia; 34822; 74 antibodies from 14 providers.
DR DNASU; 284040; -.
DR Ensembl; ENST00000619038.5; ENSP00000482523.1; ENSG00000239704.11.
DR GeneID; 284040; -.
DR KEGG; hsa:284040; -.
DR MANE-Select; ENST00000619038.5; ENSP00000482523.1; NM_001204477.2; NP_001191406.1.
DR UCSC; uc032eur.1; human.
DR CTD; 284040; -.
DR GeneCards; CDRT4; -.
DR HGNC; HGNC:14383; CDRT4.
DR HPA; ENSG00000239704; Low tissue specificity.
DR neXtProt; NX_Q8N9R6; -.
DR OpenTargets; ENSG00000239704; -.
DR PharmGKB; PA26340; -.
DR VEuPathDB; HostDB:ENSG00000239704; -.
DR eggNOG; ENOG502SXCX; Eukaryota.
DR GeneTree; ENSGT00390000005396; -.
DR HOGENOM; CLU_128820_0_0_1; -.
DR InParanoid; Q8N9R6; -.
DR OMA; SRKPMMR; -.
DR PhylomeDB; Q8N9R6; -.
DR TreeFam; TF338166; -.
DR PathwayCommons; Q8N9R6; -.
DR SignaLink; Q8N9R6; -.
DR BioGRID-ORCS; 284040; 2 hits in 188 CRISPR screens.
DR GenomeRNAi; 284040; -.
DR Pharos; Q8N9R6; Tdark.
DR PRO; PR:Q8N9R6; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q8N9R6; protein.
DR Bgee; ENSG00000239704; Expressed in right uterine tube and 91 other tissues.
DR ExpressionAtlas; Q8N9R6; baseline and differential.
DR InterPro; IPR029185; CDRT4.
DR PANTHER; PTHR37885; PTHR37885; 1.
DR Pfam; PF15213; CDRT4; 1.
PE 1: Evidence at protein level;
KW Reference proteome.
FT CHAIN 1..152
FT /note="CMT1A duplicated region transcript 4 protein"
FT /id="PRO_0000314903"
FT REGION 1..23
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 60..89
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 65..79
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 73
FT /note="V -> I (in dbSNP:rs3744332)"
FT /id="VAR_038119"
FT VARIANT 122
FT /note="H -> Q (in dbSNP:rs2954759)"
FT /id="VAR_038120"
SQ SEQUENCE 152 AA; 17643 MW; 96B40068AD837614 CRC64;
MDARRMKKEE GLTENTGLPR KLLEKHDPWP AYVTYTSQTV KRLIEKSKTR ELECMRALEE
RPWASRQNKP SSVIQPKRRK SSKSSGKAVF RDTLSESTLS MWGAYSVLAM APTMIPEPTH
LHADSRDCPT ENYNKIIFAR KPMMRMLPTV RY
