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Protein

CMT1A duplicated region transcript 4 protein

Gene

CDRT4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
neXtProtiNX_Q8N9R6

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA26340

Polymorphism and mutation databases

BioMutaiCDRT4
DMDMi296434438

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003149031 – 151CMT1A duplicated region transcript 4 proteinAdd BLAST151

Proteomic databases

PaxDbiQ8N9R6
PeptideAtlasiQ8N9R6
PRIDEiQ8N9R6
ProteomicsDBi72575

Expressioni

Tissue specificityi

Expressed in fetal skeletal muscle and kidney.1 Publication

Gene expression databases

CleanExiHS_CDRT4

Organism-specific databases

HPAiHPA021590

Interactioni

Protein-protein interaction databases

BioGridi129739, 2 interactors
STRINGi9606.ENSP00000310031

Structurei

3D structure databases

ProteinModelPortaliQ8N9R6
SMRiQ8N9R6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IZX3 Eukaryota
ENOG41117EI LUCA
HOGENOMiHOG000111502
HOVERGENiHBG098196
InParanoidiQ8N9R6
PhylomeDBiQ8N9R6
TreeFamiTF338166

Family and domain databases

InterProiView protein in InterPro
IPR029185 CDRT4
PANTHERiPTHR37885 PTHR37885, 1 hit
PfamiView protein in Pfam
PF15213 CDRT4, 1 hit

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)DescriptionActionsGraphical viewLength
Sequence conflicti8K → KE in BAC04263 (PubMed:14702039).Curated1
Sequence conflicti8K → KE in EAW89938 (Ref. 3) Curated1
Sequence conflicti8K → KE in AAH29542 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03811972V → I. Corresponds to variant dbSNP:rs3744332Ensembl.1
Natural variantiVAR_038120121H → Q. Corresponds to variant dbSNP:rs2954759Ensembl.1

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

Similar proteinsi

Entry informationi

Entry nameiCDRT4_HUMAN
AccessioniPrimary (citable) accession number: Q8N9R6
Secondary accession number(s): A8MSL9, Q8IZ19
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: May 18, 2010
Last modified: June 20, 2018
This is version 107 of the entry and version 2 of the sequence. See 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

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