UniProtKB - Q8N9R6 (CDRT4_HUMAN)
Protein
CMT1A duplicated region transcript 4 protein
Gene
CDRT4
Organism
Homo sapiens (Human)
Status
Names & Taxonomyi
Protein namesi | Recommended name: CMT1A duplicated region transcript 4 protein |
Gene namesi | Name:CDRT4 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000239704.10 |
HGNCi | HGNC:14383, CDRT4 |
neXtProti | NX_Q8N9R6 |
Pathology & Biotechi
Organism-specific databases
OpenTargetsi | ENSG00000239704 |
PharmGKBi | PA26340 |
Miscellaneous databases
Pharosi | Q8N9R6, Tdark |
Polymorphism and mutation databases
BioMutai | CDRT4 |
DMDMi | 296434438 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000314903 | 1 – 152 | CMT1A duplicated region transcript 4 proteinAdd BLAST | 152 |
Proteomic databases
MassIVEi | Q8N9R6 |
PaxDbi | Q8N9R6 |
PRIDEi | Q8N9R6 |
ProteomicsDBi | 12761 72575 |
Expressioni
Tissue specificityi
Expressed in fetal skeletal muscle and kidney.1 Publication
Gene expression databases
Bgeei | ENSG00000239704, Expressed in right uterine tube and 112 other tissues |
ExpressionAtlasi | Q8N9R6, baseline and differential |
Interactioni
Binary interactionsi
Q8N9R6
With | #Exp. | IntAct |
---|---|---|
VAC14 [Q08AM6] | 7 | EBI-10176618,EBI-2107455 |
Protein-protein interaction databases
BioGRIDi | 129739, 2 interactors |
IntActi | Q8N9R6, 1 interactor |
STRINGi | 9606.ENSP00000482523 |
Miscellaneous databases
RNActi | Q8N9R6, protein |
Family & Domainsi
Phylogenomic databases
eggNOGi | ENOG502SXCX, Eukaryota |
GeneTreei | ENSGT00390000005396 |
HOGENOMi | CLU_128820_0_0_1 |
InParanoidi | Q8N9R6 |
OMAi | NPWPAYV |
PhylomeDBi | Q8N9R6 |
TreeFami | TF338166 |
Family and domain databases
InterProi | View protein in InterPro IPR029185, CDRT4 |
PANTHERi | PTHR37885, PTHR37885, 1 hit |
Pfami | View protein in Pfam PF15213, CDRT4, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q8N9R6-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MDARRMKKEE GLTENTGLPR KLLEKHDPWP AYVTYTSQTV KRLIEKSKTR
60 70 80 90 100
ELECMRALEE RPWASRQNKP SSVIQPKRRK SSKSSGKAVF RDTLSESTLS
110 120 130 140 150
MWGAYSVLAM APTMIPEPTH LHADSRDCPT ENYNKIIFAR KPMMRMLPTV
RY
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketG3V5I9 | G3V5I9_HUMAN | CMT1A duplicated region transcript ... | CDRT4 | 24 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_038119 | 73 | V → I. Corresponds to variant dbSNP:rs3744332Ensembl. | 1 | |
Natural variantiVAR_038120 | 122 | H → 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. KF573687 Genomic DNA No translation available. CH471108 Genomic DNA Translation: EAW89938.1 CH471108 Genomic DNA Translation: EAW89941.1 BC029542 mRNA Translation: AAH29542.2 |
CCDSi | CCDS73995.1 |
RefSeqi | NP_001191406.1, NM_001204477.1 |
Genome annotation databases
Ensembli | ENST00000619038; ENSP00000482523; ENSG00000239704 |
GeneIDi | 284040 |
KEGGi | hsa:284040 |
UCSCi | uc032eur.1, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK093993 mRNA Translation: BAC04263.1 AC005517 Genomic DNA No translation available. KF573687 Genomic DNA No translation available. CH471108 Genomic DNA Translation: EAW89938.1 CH471108 Genomic DNA Translation: EAW89941.1 BC029542 mRNA Translation: AAH29542.2 |
CCDSi | CCDS73995.1 |
RefSeqi | NP_001191406.1, NM_001204477.1 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 129739, 2 interactors |
IntActi | Q8N9R6, 1 interactor |
STRINGi | 9606.ENSP00000482523 |
Polymorphism and mutation databases
BioMutai | CDRT4 |
DMDMi | 296434438 |
Proteomic databases
MassIVEi | Q8N9R6 |
PaxDbi | Q8N9R6 |
PRIDEi | Q8N9R6 |
ProteomicsDBi | 12761 72575 |
Protocols and materials databases
Antibodypediai | 34822, 73 antibodies |
Genome annotation databases
Ensembli | ENST00000619038; ENSP00000482523; ENSG00000239704 |
GeneIDi | 284040 |
KEGGi | hsa:284040 |
UCSCi | uc032eur.1, human |
Organism-specific databases
CTDi | 284040 |
EuPathDBi | HostDB:ENSG00000239704.10 |
GeneCardsi | CDRT4 |
HGNCi | HGNC:14383, CDRT4 |
neXtProti | NX_Q8N9R6 |
OpenTargetsi | ENSG00000239704 |
PharmGKBi | PA26340 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502SXCX, Eukaryota |
GeneTreei | ENSGT00390000005396 |
HOGENOMi | CLU_128820_0_0_1 |
InParanoidi | Q8N9R6 |
OMAi | NPWPAYV |
PhylomeDBi | Q8N9R6 |
TreeFami | TF338166 |
Enzyme and pathway databases
PathwayCommonsi | Q8N9R6 |
Miscellaneous databases
BioGRID-ORCSi | 284040, 0 hits in 71 CRISPR screens |
GenomeRNAii | 284040 |
Pharosi | Q8N9R6, Tdark |
PROi | PR:Q8N9R6 |
RNActi | Q8N9R6, protein |
Gene expression databases
Bgeei | ENSG00000239704, Expressed in right uterine tube and 112 other tissues |
ExpressionAtlasi | Q8N9R6, baseline and differential |
Family and domain databases
InterProi | View protein in InterPro IPR029185, CDRT4 |
PANTHERi | PTHR37885, PTHR37885, 1 hit |
Pfami | View protein in Pfam PF15213, CDRT4, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CDRT4_HUMAN | |
Accessioni | Q8N9R6Primary (citable) accession number: Q8N9R6 Secondary accession number(s): A8MSL9, D3DTT2, Q8IZ19 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 15, 2008 |
Last sequence update: | April 10, 2019 | |
Last modified: | December 2, 2020 | |
This is version 122 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations