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Protein

CMT1A duplicated region transcript 4 protein

Gene

CDRT4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 1 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
CMT1A duplicated region transcript 4 protein
Gene namesi
Name:CDRT4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Unplaced

Organism-specific databases

HGNCiHGNC:14383. CDRT4.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA26340.

Polymorphism and mutation databases

BioMutaiCDRT4.
DMDMi296434438.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 151151CMT1A duplicated region transcript 4 proteinPRO_0000314903Add
BLAST

Proteomic databases

PaxDbiQ8N9R6.
PRIDEiQ8N9R6.

Expressioni

Tissue specificityi

Expressed in fetal skeletal muscle and kidney.1 Publication

Gene expression databases

BgeeiQ8N9R6.
CleanExiHS_CDRT4.

Organism-specific databases

HPAiHPA021590.

Interactioni

Protein-protein interaction databases

BioGridi129739. 2 interactions.
STRINGi9606.ENSP00000310031.

Structurei

3D structure databases

ProteinModelPortaliQ8N9R6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IZX3. Eukaryota.
ENOG41117EI. LUCA.
HOGENOMiHOG000111502.
HOVERGENiHBG098196.
InParanoidiQ8N9R6.
OrthoDBiEOG7GFB75.
PhylomeDBiQ8N9R6.
TreeFamiTF338166.

Family and domain databases

InterProiIPR029185. CDRT4.
[Graphical view]
PfamiPF15213. CDRT4. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8N9R6-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDARRMKKEG LTENTGLPRK LLEKHDPWPA YVTYTSQTVK RLIEKSKTRE
60 70 80 90 100
LECMRALEER PWASRQNKPS SVIQPKRRKS SKSSGKAVFR DTLSESTLSM
110 120 130 140 150
WGAYSVLAMA PTMIPEPTHL HADSRDCPTE NYNKIIFARK PMMRMLPTVR

Y
Length:151
Mass (Da):17,514
Last modified:May 18, 2010 - v2
Checksum:iE94DF3BE28A1A7B4
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti8 – 81K → KE in BAC04263 (PubMed:14702039).Curated
Sequence conflicti8 – 81K → KE in EAW89938 (Ref. 3) Curated
Sequence conflicti8 – 81K → KE in AAH29542 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti72 – 721V → I.
Corresponds to variant rs3744332 [ dbSNP | Ensembl ].
VAR_038119
Natural varianti121 – 1211H → Q.
Corresponds to variant rs2954759 [ dbSNP | Ensembl ].
VAR_038120

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK093993 mRNA. Translation: BAC04263.1.
AC005517 Genomic DNA. No translation available.
CH471108 Genomic DNA. Translation: EAW89938.1.
BC029542 mRNA. Translation: AAH29542.2.
RefSeqiNP_001191406.1. NM_001204477.1.
UniGeneiHs.164595.
Hs.731765.

Genome annotation databases

EnsembliENST00000312177; ENSP00000310031; ENSG00000239704.
GeneIDi284040.
KEGGihsa:284040.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK093993 mRNA. Translation: BAC04263.1.
AC005517 Genomic DNA. No translation available.
CH471108 Genomic DNA. Translation: EAW89938.1.
BC029542 mRNA. Translation: AAH29542.2.
RefSeqiNP_001191406.1. NM_001204477.1.
UniGeneiHs.164595.
Hs.731765.

3D structure databases

ProteinModelPortaliQ8N9R6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129739. 2 interactions.
STRINGi9606.ENSP00000310031.

Polymorphism and mutation databases

BioMutaiCDRT4.
DMDMi296434438.

Proteomic databases

PaxDbiQ8N9R6.
PRIDEiQ8N9R6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000312177; ENSP00000310031; ENSG00000239704.
GeneIDi284040.
KEGGihsa:284040.

Organism-specific databases

CTDi284040.
GeneCardsiCDRT4.
HGNCiHGNC:14383. CDRT4.
HPAiHPA021590.
neXtProtiNX_Q8N9R6.
PharmGKBiPA26340.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IZX3. Eukaryota.
ENOG41117EI. LUCA.
HOGENOMiHOG000111502.
HOVERGENiHBG098196.
InParanoidiQ8N9R6.
OrthoDBiEOG7GFB75.
PhylomeDBiQ8N9R6.
TreeFamiTF338166.

Miscellaneous databases

GenomeRNAii284040.
NextBioi94480.
PROiQ8N9R6.

Gene expression databases

BgeeiQ8N9R6.
CleanExiHS_CDRT4.

Family and domain databases

InterProiIPR029185. CDRT4.
[Graphical view]
PfamiPF15213. CDRT4. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Uterus.
  2. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Testis.
  5. "The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes."
    Inoue K., Dewar K., Katsanis N., Reiter L.T., Lander E.S., Devon K.L., Wyman D.W., Lupski J.R., Birren B.
    Genome Res. 11:1018-1033(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.

Entry informationi

Entry nameiCDRT4_HUMAN
AccessioniPrimary (citable) accession number: Q8N9R6
Secondary accession number(s): A8MSL9, Q8IZ19
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: May 18, 2010
Last modified: April 13, 2016
This is version 98 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.