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Gene: TIMMDC1 (translocase of inner mitochondrial membrane domain containing 1) Homo sapiens
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Symbol: TIMMDC1
Name: translocase of inner mitochondrial membrane domain containing 1
Description: Predicted to be involved in mitochondrial respiratory chain complex I assembly. Localizes to the mitochondrion and nucleoplasm. Implicated in mitochondrial complex I deficiency; INTERACTS WITH (+)-catechin; 2-hydroxypropanoic acid; 3-isobutyl-1-methyl-7H-xanthine.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: C3orf1; complex I assembly factor TIMMDC1, mitochondrial; FLJ22597; M5-14 protein; MC1DN31; TIMM domain containing-protein 1; translocase of inner mitochondrial membrane domain-containing protein 1; transmembrane protein C3orf1
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl3119,498,547 - 119,525,090 (+)Ensembl
GRCh383119,498,525 - 119,525,090 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh373119,217,324 - 119,243,128 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363120,700,058 - 120,725,818 (+)NCBINCBI36hg18NCBI36
Build 343120,700,068 - 120,725,825NCBI
Celera3117,625,927 - 117,651,681 (+)NCBI
Cytogenetic Map3q13.33NCBI
HuRef3116,593,055 - 116,618,818 (+)NCBIHuRef
CHM1_13119,180,849 - 119,206,611 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on TIMMDC1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1351318
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-12-25
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.