TIMMDC1 (translocase of inner mitochondrial membrane domain containing 1) - Rat Genome Database
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Gene: TIMMDC1 (translocase of inner mitochondrial membrane domain containing 1) Homo sapiens
Analyze
Symbol: TIMMDC1
Name: translocase of inner mitochondrial membrane domain containing 1
RGD ID: 1351318
Description: Predicted to be involved in mitochondrial respiratory chain complex I assembly. Localizes to 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.p13 Ensembl3119,498,547 - 119,525,090 (+)EnsemblGRCh38hg38GRCh38
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     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:11076863   PMID:11092749   PMID:11230166   PMID:11256614   PMID:12477932   PMID:12975309   PMID:15489334   PMID:15489336   PMID:16381901   PMID:16712791   PMID:16751776  
PMID:19019082   PMID:20413980   PMID:20877624   PMID:21048031   PMID:21399635   PMID:21832049   PMID:21833088   PMID:21873635   PMID:22354554   PMID:22939629   PMID:23000144   PMID:24191001  
PMID:24344204   PMID:24457600   PMID:25391042   PMID:25416956   PMID:26186194   PMID:26389662   PMID:26496610   PMID:26972000   PMID:27432908   PMID:27499296   PMID:28298427   PMID:28514442  
PMID:28846114   PMID:29053956   PMID:29568061   PMID:29937147   PMID:30123074   PMID:30981218   PMID:31073040   PMID:31091453   PMID:31515488   PMID:31617661   PMID:31794266   PMID:31980649  
PMID:32296183   PMID:32694731   PMID:32877691  


Genomics

Comparative Map Data
TIMMDC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3119,498,547 - 119,525,090 (+)EnsemblGRCh38hg38GRCh38
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
Timmdc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391638,318,205 - 38,343,075 (-)NCBI
GRCm381638,497,843 - 38,522,778 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1638,498,347 - 38,522,663 (-)EnsemblGRCm38mm10GRCm38
MGSCv371638,497,925 - 38,522,747 (-)NCBIGRCm37mm9NCBIm37
MGSCv361638,417,652 - 38,441,928 (-)NCBImm8
Celera1638,908,448 - 38,933,313 (-)NCBICelera
Cytogenetic Map16B4NCBI
Timmdc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01164,790,801 - 64,815,484 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1164,790,801 - 64,815,477 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01167,288,390 - 67,318,871 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41164,007,362 - 64,031,773 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11164,064,950 - 64,089,363 (+)NCBI
Celera1161,731,626 - 61,755,761 (+)NCBICelera
Cytogenetic Map11q21NCBI
Timmdc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542719,209,857 - 19,235,097 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542719,208,029 - 19,234,763 (+)NCBIChiLan1.0ChiLan1.0
TIMMDC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13123,533,675 - 123,559,348 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3123,533,675 - 123,559,348 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03116,621,164 - 116,646,776 (+)NCBIMhudiblu_PPA_v0panPan3
TIMMDC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl3323,154,225 - 23,175,083 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.13323,153,988 - 23,175,412 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Timmdc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365366,432,802 - 6,451,485 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TIMMDC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13140,730,109 - 140,758,607 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113140,728,559 - 140,758,698 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TIMMDC1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl2261,306,764 - 61,331,882 (-)Ensembl
ChlSab1.12261,306,440 - 61,331,639 (-)NCBI
Timmdc1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473128,657,663 - 28,680,448 (-)NCBI

Position Markers
D3S2914E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373119,217,489 - 119,217,569UniSTSGRCh37
Build 363120,700,179 - 120,700,259RGDNCBI36
Celera3117,626,048 - 117,626,128RGD
Cytogenetic Map3q13.33UniSTS
HuRef3116,593,176 - 116,593,256UniSTS
RH47148  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373119,242,472 - 119,242,642UniSTSGRCh37
Build 363120,725,162 - 120,725,332RGDNCBI36
Celera3117,651,025 - 117,651,195RGD
Cytogenetic Map3q13.33UniSTS
HuRef3116,618,162 - 116,618,332UniSTS
GeneMap99-GB4 RH Map3421.36UniSTS
G19630  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373119,242,609 - 119,242,803UniSTSGRCh37
Build 363120,725,299 - 120,725,493RGDNCBI36
Celera3117,651,162 - 117,651,356RGD
Cytogenetic Map3q13.33UniSTS
HuRef3116,618,299 - 116,618,493UniSTS
A001T27  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373119,242,609 - 119,242,803UniSTSGRCh37
Build 363120,725,299 - 120,725,493RGDNCBI36
Celera3117,651,162 - 117,651,356RGD
Cytogenetic Map3q13.33UniSTS
HuRef3116,618,299 - 116,618,493UniSTS
GeneMap99-GB4 RH Map3420.95UniSTS
NCBI RH Map3929.8UniSTS
D3S2834E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373119,242,714 - 119,242,883UniSTSGRCh37
Build 363120,725,404 - 120,725,573RGDNCBI36
Celera3117,651,267 - 117,651,436RGD
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map3q13.3-q21UniSTS
HuRef3116,618,404 - 116,618,573UniSTS
GeneMap99-GB4 RH Map3421.36UniSTS
RH47157  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373119,242,543 - 119,242,666UniSTSGRCh37
Build 363120,725,233 - 120,725,356RGDNCBI36
Celera3117,651,096 - 117,651,219RGD
Cytogenetic Map3q13.33UniSTS
HuRef3116,618,233 - 116,618,356UniSTS
GeneMap99-GB4 RH Map3421.43UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1849
Count of miRNA genes:841
Interacting mature miRNAs:961
Transcripts:ENST00000264244, ENST00000463927, ENST00000466984, ENST00000469324, ENST00000486418, ENST00000492164, ENST00000493694, ENST00000494664, ENST00000498399
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2437 2679 1711 610 1673 451 4357 2158 3714 418 1460 1612 175 1 1204 2788 6 2
Low 2 312 15 14 278 14 39 20 1 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_016589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC073352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF139077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF210057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG705703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB105366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR533524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ572402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000264244   ⟹   ENSP00000264244
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3119,498,552 - 119,524,066 (+)Ensembl
RefSeq Acc Id: ENST00000463927   ⟹   ENSP00000417205
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3119,498,583 - 119,523,638 (+)Ensembl
RefSeq Acc Id: ENST00000466984   ⟹   ENSP00000420122
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3119,498,581 - 119,517,315 (+)Ensembl
RefSeq Acc Id: ENST00000469324
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3119,500,374 - 119,513,719 (+)Ensembl
RefSeq Acc Id: ENST00000486418   ⟹   ENSP00000417083
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3119,498,567 - 119,517,315 (+)Ensembl
RefSeq Acc Id: ENST00000492164   ⟹   ENSP00000418846
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3119,498,575 - 119,523,630 (+)Ensembl
RefSeq Acc Id: ENST00000493694   ⟹   ENSP00000419510
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3119,498,547 - 119,523,823 (+)Ensembl
RefSeq Acc Id: ENST00000494664   ⟹   ENSP00000418803
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3119,498,547 - 119,525,090 (+)Ensembl
RefSeq Acc Id: ENST00000498399   ⟹   ENSP00000420812
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3119,498,817 - 119,524,061 (+)Ensembl
RefSeq Acc Id: NM_016589   ⟹   NP_057673
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383119,498,547 - 119,525,090 (+)NCBI
GRCh373119,217,324 - 119,243,128 (+)NCBI
Build 363120,700,058 - 120,725,818 (+)NCBI Archive
Celera3117,625,927 - 117,651,681 (+)RGD
HuRef3116,593,055 - 116,618,818 (+)ENTREZGENE
CHM1_13119,180,849 - 119,206,611 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006556   ⟹   XP_016862045
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383119,498,525 - 119,524,086 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_057673   ⟸   NM_016589
- Peptide Label: precursor
- UniProtKB: Q9NPL8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016862045   ⟸   XM_017006556
- Peptide Label: isoform X1
- UniProtKB: C9JU35 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000417205   ⟸   ENST00000463927
RefSeq Acc Id: ENSP00000420122   ⟸   ENST00000466984
RefSeq Acc Id: ENSP00000418846   ⟸   ENST00000492164
RefSeq Acc Id: ENSP00000419510   ⟸   ENST00000493694
RefSeq Acc Id: ENSP00000418803   ⟸   ENST00000494664
RefSeq Acc Id: ENSP00000420812   ⟸   ENST00000498399
RefSeq Acc Id: ENSP00000417083   ⟸   ENST00000486418
RefSeq Acc Id: ENSP00000264244   ⟸   ENST00000264244

Promoters
RGD ID:6865346
Promoter ID:EPDNEW_H5838
Type:initiation region
Name:TIMMDC1_1
Description:translocase of inner mitochondrial membrane domain containing1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383119,498,550 - 119,498,610EPDNEW
RGD ID:6800694
Promoter ID:HG_KWN:45916
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_016589,   UC003ECO.1,   UC003ECP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363120,699,121 - 120,700,147 (+)MPROMDB
RGD ID:6812271
Promoter ID:HG_ACW:55403
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:C3ORF1.JAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 363120,701,216 - 120,701,716 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1 copy number loss See cases [RCV000051543] Chr3:93886671..123216683 [GRCh38]
Chr3:93605515..122935530 [GRCh37]
Chr3:95088205..124418220 [NCBI36]
Chr3:3q11.1-21.1
pathogenic
GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1 copy number loss See cases [RCV000051546] Chr3:119117166..125920734 [GRCh38]
Chr3:118836013..125639577 [GRCh37]
Chr3:120318703..127122267 [NCBI36]
Chr3:3q13.32-21.2
pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q13.32-13.33(chr3:117844958-120797026)x4 copy number gain See cases [RCV000135591] Chr3:117844958..120797026 [GRCh38]
Chr3:117563805..120515873 [GRCh37]
Chr3:119046495..121998563 [NCBI36]
Chr3:3q13.32-13.33
uncertain significance
GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1 copy number loss See cases [RCV000135961] Chr3:115019074..122513398 [GRCh38]
Chr3:114737921..122232245 [GRCh37]
Chr3:116220611..123714935 [NCBI36]
Chr3:3q13.31-21.1
pathogenic
GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1 copy number loss See cases [RCV000139033] Chr3:112620977..128734134 [GRCh38]
Chr3:112339824..128452977 [GRCh37]
Chr3:113822514..129935667 [NCBI36]
Chr3:3q13.2-21.3
pathogenic
GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1 copy number loss See cases [RCV000142009] Chr3:114122562..124532374 [GRCh38]
Chr3:113841409..124251221 [GRCh37]
Chr3:115324099..125733911 [NCBI36]
Chr3:3q13.31-21.2
pathogenic
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24
pathogenic
GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4 copy number gain See cases [RCV000142877] Chr3:117844958..120826621 [GRCh38]
Chr3:117563805..120545468 [GRCh37]
Chr3:119046495..122028158 [NCBI36]
Chr3:3q13.32-13.33
uncertain significance
GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1 copy number loss See cases [RCV000142725] Chr3:112520553..120031022 [GRCh38]
Chr3:112239400..119749869 [GRCh37]
Chr3:113722090..121232559 [NCBI36]
Chr3:3q13.2-13.33
pathogenic
GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1 copy number loss See cases [RCV000143695] Chr3:118673898..126540730 [GRCh38]
Chr3:118392745..126259573 [GRCh37]
Chr3:119875435..127742263 [NCBI36]
Chr3:3q13.32-21.3
pathogenic
GRCh37/hg19 3q13.33(chr3:119188677-119500810)x3 copy number gain See cases [RCV000240551] Chr3:119188677..119500810 [GRCh37]
Chr3:3q13.33
uncertain significance
GRCh37/hg19 3q13.33(chr3:119188677-119500751)x3 copy number gain See cases [RCV000445965] Chr3:119188677..119500751 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_016589.4(TIMMDC1):c.597-1340A>G single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 31 [RCV000493542] Chr3:119515865 [GRCh38]
Chr3:119234712 [GRCh37]
Chr3:3q13.33
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q13.31-21.1(chr3:115518341-122129283)x1 copy number loss not provided [RCV000682298] Chr3:115518341..122129283 [GRCh37]
Chr3:3q13.31-21.1
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_016589.4(TIMMDC1):c.673C>T (p.Arg225Ter) single nucleotide variant Leigh syndrome [RCV000735814] Chr3:119517281 [GRCh38]
Chr3:119236128 [GRCh37]
Chr3:3q13.33
likely benign|uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_016589.4(TIMMDC1):c.481A>G (p.Asn161Asp) single nucleotide variant not provided [RCV000926594] Chr3:119503985 [GRCh38]
Chr3:119222832 [GRCh37]
Chr3:3q13.33
likely benign
NM_016589.4(TIMMDC1):c.524C>T (p.Thr175Met) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 31 [RCV000995900] Chr3:119513647 [GRCh38]
Chr3:119232494 [GRCh37]
Chr3:3q13.33
likely pathogenic
NM_016589.4(TIMMDC1):c.361-4T>C single nucleotide variant not provided [RCV000919706] Chr3:119503528 [GRCh38]
Chr3:119222375 [GRCh37]
Chr3:3q13.33
likely benign
NM_016589.4(TIMMDC1):c.687T>C (p.His229=) single nucleotide variant not provided [RCV000937941] Chr3:119517295 [GRCh38]
Chr3:119236142 [GRCh37]
Chr3:3q13.33
benign
NM_016589.4(TIMMDC1):c.598A>G (p.Thr200Ala) single nucleotide variant not provided [RCV000998124] Chr3:119517206 [GRCh38]
Chr3:119236053 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_016589.4(TIMMDC1):c.385C>T (p.Arg129Ter) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 31 [RCV001263090] Chr3:119503556 [GRCh38]
Chr3:119222403 [GRCh37]
Chr3:3q13.33
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1321 AgrOrtholog
COSMIC TIMMDC1 COSMIC
Ensembl Genes ENSG00000113845 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000264244 UniProtKB/TrEMBL
  ENSP00000417083 UniProtKB/TrEMBL
  ENSP00000417205 UniProtKB/TrEMBL
  ENSP00000418803 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000418846 UniProtKB/TrEMBL
  ENSP00000419510 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000420122 UniProtKB/TrEMBL
  ENSP00000420812 UniProtKB/TrEMBL
Ensembl Transcript ENST00000264244 UniProtKB/TrEMBL
  ENST00000463927 UniProtKB/TrEMBL
  ENST00000466984 UniProtKB/TrEMBL
  ENST00000486418 UniProtKB/TrEMBL
  ENST00000492164 UniProtKB/TrEMBL
  ENST00000493694 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000494664 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000498399 UniProtKB/TrEMBL
GTEx ENSG00000113845 GTEx
HGNC ID HGNC:1321 ENTREZGENE
Human Proteome Map TIMMDC1 Human Proteome Map
KEGG Report hsa:51300 UniProtKB/Swiss-Prot
NCBI Gene 51300 ENTREZGENE
OMIM 615534 OMIM
  618251 OMIM
PharmGKB PA25900 PharmGKB
UniGene Hs.477287 ENTREZGENE
UniProt C9JR82_HUMAN UniProtKB/TrEMBL
  C9JU35 ENTREZGENE, UniProtKB/TrEMBL
  F8WAU6_HUMAN UniProtKB/TrEMBL
  F8WB00_HUMAN UniProtKB/TrEMBL
  F8WC42_HUMAN UniProtKB/TrEMBL
  G3XA94_HUMAN UniProtKB/TrEMBL
  H7C5U1_HUMAN UniProtKB/TrEMBL
  Q9NPL8 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary D3DN81 UniProtKB/Swiss-Prot
  Q6IAJ7 UniProtKB/Swiss-Prot
  Q6UWU6 UniProtKB/Swiss-Prot
  Q9NPR3 UniProtKB/Swiss-Prot
  Q9NPS5 UniProtKB/Swiss-Prot
  Q9P0Y6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 TIMMDC1  translocase of inner mitochondrial membrane domain containing 1  C3orf1  chromosome 3 open reading frame 1  Symbol and/or name change 5135510 APPROVED