MPC1 (mitochondrial pyruvate carrier 1) - Rat Genome Database

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Gene: MPC1 (mitochondrial pyruvate carrier 1) Homo sapiens
Analyze
Symbol: MPC1
Name: mitochondrial pyruvate carrier 1
RGD ID: 1352706
HGNC Page HGNC
Description: Predicted to enable pyruvate transmembrane transporter activity. Predicted to be involved in mitochondrial pyruvate transmembrane transport. Predicted to act upstream of or within cellular response to leukemia inhibitory factor and mitochondrial acetyl-CoA biosynthetic process from pyruvate. Located in mitochondrion. Implicated in mitochondrial pyruvate carrier deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: brain protein 44-like protein; BRP44L; CGI-129; dJ68L15.3; HSPC040 protein; MPYCD; SLC54A1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl6166,364,919 - 166,383,013 (-)EnsemblGRCh38hg38GRCh38
GRCh386166,364,919 - 166,382,940 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh376166,778,407 - 166,796,428 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366166,698,397 - 166,716,476 (-)NCBINCBI36hg18NCBI36
Build 346166,748,820 - 166,766,897NCBI
Celera6167,517,772 - 167,535,855 (-)NCBI
Cytogenetic Map6q27NCBI
HuRef6164,249,365 - 164,267,463 (-)NCBIHuRef
CHM1_16167,042,136 - 167,060,235 (-)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

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:10810093   PMID:11042152   PMID:11252172   PMID:12477932   PMID:15489334   PMID:16169070   PMID:17672918   PMID:19834535   PMID:20877624   PMID:21873635   PMID:22628558   PMID:25458841  
PMID:26642043   PMID:26895100   PMID:28263840   PMID:28397687   PMID:28462847   PMID:29286150   PMID:29472561   PMID:29700317   PMID:29845198   PMID:30291323   PMID:30356033   PMID:30770798  
PMID:30801869   PMID:30808746   PMID:31236818   PMID:31641207   PMID:32296183   PMID:32403431   PMID:32694731   PMID:32708919   PMID:32851100  


Genomics

Comparative Map Data
MPC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl6166,364,919 - 166,383,013 (-)EnsemblGRCh38hg38GRCh38
GRCh386166,364,919 - 166,382,940 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh376166,778,407 - 166,796,428 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366166,698,397 - 166,716,476 (-)NCBINCBI36hg18NCBI36
Build 346166,748,820 - 166,766,897NCBI
Celera6167,517,772 - 167,535,855 (-)NCBI
Cytogenetic Map6q27NCBI
HuRef6164,249,365 - 164,267,463 (-)NCBIHuRef
CHM1_16167,042,136 - 167,060,235 (-)NCBICHM1_1
Mpc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39178,502,590 - 8,516,499 (+)NCBIGRCm39mm39
GRCm39 Ensembl178,501,736 - 8,516,493 (+)Ensembl
GRCm38178,283,787 - 8,297,667 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl178,282,904 - 8,297,661 (+)EnsemblGRCm38mm10GRCm38
MGSCv37178,476,678 - 8,490,526 (+)NCBIGRCm37mm9NCBIm37
MGSCv36178,121,987 - 8,135,835 (+)NCBImm8
Celera12112,049,395 - 112,049,996 (-)NCBICelera
Cytogenetic Map17A1NCBI
cM Map174.92NCBI
Mpc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2152,437,745 - 52,449,369 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl152,437,741 - 52,449,400 (-)Ensembl
Rnor_6.0153,026,608 - 53,038,229 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl153,026,608 - 53,038,229 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0154,275,046 - 54,286,667 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4147,077,723 - 47,089,344 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1147,080,667 - 47,092,289 (-)NCBI
Celera148,200,723 - 48,212,344 (-)NCBICelera
Cytogenetic Map1q12NCBI
Mpc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543915,516,090 - 15,531,116 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543915,515,966 - 15,531,618 (+)NCBIChiLan1.0ChiLan1.0
MPC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.16169,313,271 - 169,318,685 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v06164,331,604 - 164,349,747 (-)NCBIMhudiblu_PPA_v0panPan3
MPC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1154,379,195 - 54,395,697 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha155,167,961 - 55,184,449 (-)NCBI
ROS_Cfam_1.0154,557,931 - 54,574,673 (-)NCBI
UMICH_Zoey_3.1154,455,224 - 54,471,730 (-)NCBI
UNSW_CanFamBas_1.0154,304,263 - 54,320,827 (-)NCBI
UU_Cfam_GSD_1.0154,928,921 - 54,945,422 (-)NCBI
Mpc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946148,927,328 - 148,929,837 (-)NCBI
SpeTri2.0NW_00493648916,179,321 - 16,181,991 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MPC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.112,541,475 - 2,552,864 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213,681,075 - 3,692,480 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MPC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11394,080,417 - 94,100,149 (-)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604065,907,418 - 65,927,150 (-)NCBIVero_WHO_p1.0
Mpc1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462478512,876,942 - 12,892,417 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH46753  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376166,778,515 - 166,778,676UniSTSGRCh37
Build 366166,698,505 - 166,698,666RGDNCBI36
Celera6167,517,880 - 167,518,041RGD
Cytogenetic Map6q27UniSTS
HuRef6164,249,473 - 164,249,634UniSTS
G20555  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376166,778,444 - 166,778,594UniSTSGRCh37
Build 366166,698,434 - 166,698,584RGDNCBI36
Celera6167,517,809 - 167,517,959RGD
Cytogenetic Map6q27UniSTS
HuRef6164,249,402 - 164,249,552UniSTS
STS-G20555  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376166,778,444 - 166,778,594UniSTSGRCh37
Build 366166,698,434 - 166,698,584RGDNCBI36
Celera6167,517,809 - 167,517,959RGD
Cytogenetic Map6q27UniSTS
HuRef6164,249,402 - 164,249,552UniSTS
GeneMap99-GB4 RH Map6636.17UniSTS
RH79004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376166,789,178 - 166,789,326UniSTSGRCh37
Build 366166,709,168 - 166,709,316RGDNCBI36
Celera6167,528,542 - 167,528,690RGD
Cytogenetic Map6q27UniSTS
HuRef6164,260,135 - 164,260,283UniSTS
GeneMap99-GB4 RH Map6630.13UniSTS
NCBI RH Map61662.8UniSTS
BRP44L_9749  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376166,778,303 - 166,778,865UniSTSGRCh37
Build 366166,698,293 - 166,698,855RGDNCBI36
Celera6167,517,668 - 167,518,230RGD
HuRef6164,249,261 - 164,249,823UniSTS
STS-T87067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376166,794,552 - 166,794,667UniSTSGRCh37
Build 366166,714,542 - 166,714,657RGDNCBI36
Celera6167,533,921 - 167,534,036RGD
Cytogenetic Map6q27UniSTS
HuRef6164,265,514 - 164,265,629UniSTS
GeneMap99-GB4 RH Map6635.54UniSTS
D6S2045  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376166,778,447 - 166,778,543UniSTSGRCh37
Build 366166,698,437 - 166,698,533RGDNCBI36
Celera6167,517,812 - 167,517,908RGD
Cytogenetic Map6q27UniSTS
HuRef6164,249,405 - 164,249,501UniSTS
Stanford-G3 RH Map66535.0UniSTS
NCBI RH Map61672.4UniSTS
GeneMap99-G3 RH Map66838.0UniSTS
STS-H93543  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376166,783,325 - 166,783,529UniSTSGRCh37
Build 366166,703,315 - 166,703,519RGDNCBI36
Celera6167,522,690 - 167,522,894RGD
Cytogenetic Map6q27UniSTS
HuRef6164,254,283 - 164,254,487UniSTS
GeneMap99-GB4 RH Map6635.23UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:638
Count of miRNA genes:294
Interacting mature miRNAs:303
Transcripts:ENST00000341756, ENST00000360961, ENST00000366868, ENST00000475708, ENST00000487218
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 2432 2665 1715 620 1649 461 4352 2170 3724 412 1438 1602 175 1 1204 2788 3 2
Low 7 326 11 4 302 4 4 27 9 7 22 11 3
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001270879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_073093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF125101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF151887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF275811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL556427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL561589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF665465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG828174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC402302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000341756   ⟹   ENSP00000340784
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6166,364,919 - 166,383,013 (-)Ensembl
RefSeq Acc Id: ENST00000360961   ⟹   ENSP00000354223
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6166,364,919 - 166,382,940 (-)Ensembl
RefSeq Acc Id: ENST00000366868
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6166,365,230 - 166,370,335 (-)Ensembl
RefSeq Acc Id: ENST00000475708
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6166,365,332 - 166,382,871 (-)Ensembl
RefSeq Acc Id: ENST00000487218
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6166,365,074 - 166,382,893 (-)Ensembl
RefSeq Acc Id: ENST00000621630   ⟹   ENSP00000479789
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6166,364,919 - 166,383,013 (-)Ensembl
RefSeq Acc Id: ENST00000621685   ⟹   ENSP00000477853
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl6166,364,919 - 166,383,013 (-)Ensembl
RefSeq Acc Id: NM_001270879   ⟹   NP_001257808
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386166,364,919 - 166,382,940 (-)NCBI
GRCh376166,778,407 - 166,796,501 (-)NCBI
HuRef6164,249,365 - 164,267,463 (-)NCBI
CHM1_16167,042,136 - 167,060,235 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001376565   ⟹   NP_001363494
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386166,364,919 - 166,382,940 (-)NCBI
RefSeq Acc Id: NM_001376566   ⟹   NP_001363495
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386166,364,919 - 166,382,940 (-)NCBI
RefSeq Acc Id: NM_001376567   ⟹   NP_001363496
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386166,364,919 - 166,382,940 (-)NCBI
RefSeq Acc Id: NM_001376568   ⟹   NP_001363497
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386166,364,919 - 166,382,940 (-)NCBI
RefSeq Acc Id: NM_001376569   ⟹   NP_001363498
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386166,364,919 - 166,382,940 (-)NCBI
RefSeq Acc Id: NM_016098   ⟹   NP_057182
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386166,364,919 - 166,382,940 (-)NCBI
GRCh376166,778,407 - 166,796,501 (-)NCBI
Build 366166,698,397 - 166,716,476 (-)NCBI Archive
Celera6167,517,772 - 167,535,855 (-)RGD
HuRef6164,249,365 - 164,267,463 (-)NCBI
CHM1_16167,042,136 - 167,060,235 (-)NCBI
Sequence:
RefSeq Acc Id: NR_073093
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386166,364,919 - 166,382,940 (-)NCBI
GRCh376166,778,407 - 166,796,501 (-)NCBI
HuRef6164,249,365 - 164,267,463 (-)NCBI
CHM1_16167,042,136 - 167,060,235 (-)NCBI
Sequence:
RefSeq Acc Id: NR_164828
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386166,364,919 - 166,382,940 (-)NCBI
RefSeq Acc Id: NR_164829
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386166,364,919 - 166,382,940 (-)NCBI
RefSeq Acc Id: NR_164830
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386166,364,919 - 166,382,940 (-)NCBI
RefSeq Acc Id: NR_164831
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386166,364,919 - 166,382,940 (-)NCBI
RefSeq Acc Id: XM_011535895   ⟹   XP_011534197
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386166,364,919 - 166,370,179 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024446456   ⟹   XP_024302224
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386166,364,919 - 166,368,538 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_057182   ⟸   NM_016098
- Peptide Label: isoform 1
- UniProtKB: Q9Y5U8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001257808   ⟸   NM_001270879
- Peptide Label: isoform 2
- UniProtKB: Q5TI65 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011534197   ⟸   XM_011535895
- Peptide Label: isoform X1
- UniProtKB: Q5TI65 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024302224   ⟸   XM_024446456
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001363495   ⟸   NM_001376566
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001363496   ⟸   NM_001376567
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001363497   ⟸   NM_001376568
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001363494   ⟸   NM_001376565
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001363498   ⟸   NM_001376569
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000479789   ⟸   ENST00000621630
RefSeq Acc Id: ENSP00000477853   ⟸   ENST00000621685
RefSeq Acc Id: ENSP00000354223   ⟸   ENST00000360961
RefSeq Acc Id: ENSP00000340784   ⟸   ENST00000341756

Promoters
RGD ID:7209643
Promoter ID:EPDNEW_H10566
Type:initiation region
Name:MPC1_1
Description:mitochondrial pyruvate carrier 1
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
GRCh386166,382,940 - 166,383,000EPDNEW
RGD ID:6803812
Promoter ID:HG_KWN:55754
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000392123,   NM_016098,   OTTHUMT00000043052,   OTTHUMT00000043054,   OTTHUMT00000043055,   UC003QVA.1,   UC010KKH.1,   UC010KKJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 366166,716,441 - 166,717,242 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_016098.4(MPC1):c.289C>T (p.Arg97Trp) single nucleotide variant Mitochondrial pyruvate carrier deficiency [RCV000029223] Chr6:166365990 [GRCh38]
Chr6:166779478 [GRCh37]
Chr6:6q27
pathogenic
NM_016098.4(MPC1):c.236T>A (p.Leu79His) single nucleotide variant Mitochondrial pyruvate carrier deficiency [RCV000029224] Chr6:166366043 [GRCh38]
Chr6:166779531 [GRCh37]
Chr6:6q27
pathogenic
GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3 copy number gain See cases [RCV000050604] Chr6:141132990..169339571 [GRCh38]
Chr6:141454127..169739666 [GRCh37]
Chr6:141495820..169481591 [NCBI36]
Chr6:6q24.1-27
pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170583214)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|See cases [RCV000051902] Chr6:152376338..170583214 [GRCh38]
Chr6:152697473..170892302 [GRCh37]
Chr6:152739166..170734227 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:158664768-170612001)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|See cases [RCV000051904] Chr6:158664768..170612001 [GRCh38]
Chr6:159085800..170921089 [GRCh37]
Chr6:159005788..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1 copy number loss See cases [RCV000052207] Chr6:154118058..170602152 [GRCh38]
Chr6:154439193..170911240 [GRCh37]
Chr6:154480885..170753165 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1 copy number loss See cases [RCV000052209] Chr6:159454639..170612001 [GRCh38]
Chr6:159875671..170921089 [GRCh37]
Chr6:159795661..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1 copy number loss See cases [RCV000052211] Chr6:159825913..170612001 [GRCh38]
Chr6:160246945..170921089 [GRCh37]
Chr6:160166935..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:160328288-170612001)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052212]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052212]|See cases [RCV000052212] Chr6:160328288..170612001 [GRCh38]
Chr6:160749320..170921089 [GRCh37]
Chr6:160669310..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1 copy number loss See cases [RCV000052213] Chr6:160359686..170608818 [GRCh38]
Chr6:160780718..170917906 [GRCh37]
Chr6:160700708..170759831 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:160422761-170612001)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052214]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052214]|See cases [RCV000052214] Chr6:160422761..170612001 [GRCh38]
Chr6:160843793..170921089 [GRCh37]
Chr6:160763783..170763014 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q26-27(chr6:161205328-170581161)x1 copy number loss See cases [RCV000052215] Chr6:161205328..170581161 [GRCh38]
Chr6:161626360..170890249 [GRCh37]
Chr6:161546350..170732174 [NCBI36]
Chr6:6q26-27
pathogenic
GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1 copy number loss See cases [RCV000052223] Chr6:162042846..170608818 [GRCh38]
Chr6:162463878..170917906 [GRCh37]
Chr6:162383868..170759831 [NCBI36]
Chr6:6q26-27
pathogenic
GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1 copy number loss See cases [RCV000052224] Chr6:162789915..170602152 [GRCh38]
Chr6:163210947..170911240 [GRCh37]
Chr6:163130937..170753165 [NCBI36]
Chr6:6q26-27
pathogenic
GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1 copy number loss See cases [RCV000052225] Chr6:163420224..170608818 [GRCh38]
Chr6:163841256..170917906 [GRCh37]
Chr6:163761246..170759831 [NCBI36]
Chr6:6q26-27
pathogenic
GRCh38/hg38 6q27(chr6:165126489-170581161)x1 copy number loss See cases [RCV000052226] Chr6:165126489..170581161 [GRCh38]
Chr6:165539978..170890249 [GRCh37]
Chr6:165459968..170732174 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q27(chr6:166370159-170602152)x1 copy number loss See cases [RCV000052227] Chr6:166370159..170602152 [GRCh38]
Chr6:166783647..170911240 [GRCh37]
Chr6:166703637..170753165 [NCBI36]
Chr6:6q27
pathogenic
NM_016098.4(MPC1):c.106C>A (p.Leu36Ile) single nucleotide variant not provided [RCV000676790]|not specified [RCV000126795] Chr6:166366861 [GRCh38]
Chr6:166780349 [GRCh37]
Chr6:6q27
benign|likely benign
NM_016098.4(MPC1):c.303C>T (p.His101=) single nucleotide variant not provided [RCV000676789]|not specified [RCV000126796] Chr6:166365976 [GRCh38]
Chr6:166779464 [GRCh37]
Chr6:6q27
benign
GRCh37/hg19 6q26-27(chr6:162865436-170901287)x3 copy number gain See cases [RCV000184080] Chr6:162865436..170901287 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1 copy number loss See cases [RCV000134021] Chr6:160484810..170612011 [GRCh38]
Chr6:160905842..170921099 [GRCh37]
Chr6:160825832..170763024 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q27(chr6:164790270-170612001)x1 copy number loss See cases [RCV000135415] Chr6:164790270..170612001 [GRCh38]
Chr6:165203779..170921089 [GRCh37]
Chr6:165123769..170763014 [NCBI36]
Chr6:6q27
pathogenic
GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1 copy number loss See cases [RCV000137381] Chr6:154539655..170714507 [GRCh38]
Chr6:154860789..171023595 [GRCh37]
Chr6:154902481..170865520 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q27(chr6:165631374-166405780)x3 copy number gain See cases [RCV000140297] Chr6:165631374..166405780 [GRCh38]
Chr6:166044862..166819268 [GRCh37]
Chr6:165964852..166739258 [NCBI36]
Chr6:6q27
uncertain significance
GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1 copy number loss See cases [RCV000139636] Chr6:159915390..170714507 [GRCh38]
Chr6:160336422..171023595 [GRCh37]
Chr6:160256412..170865520 [NCBI36]
Chr6:6q25.3-27
pathogenic
GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1 copy number loss See cases [RCV000141880] Chr6:152793402..170610394 [GRCh38]
Chr6:153114537..170919482 [GRCh37]
Chr6:153156230..170761407 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3 copy number gain See cases [RCV000142594] Chr6:152376338..170612001 [GRCh38]
Chr6:152697473..170921089 [GRCh37]
Chr6:152739166..170763014 [NCBI36]
Chr6:6q25.2-27
pathogenic
GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1 copy number loss See cases [RCV000143619] Chr6:160899898..170610394 [GRCh38]
Chr6:161320930..170919482 [GRCh37]
Chr6:161240920..170761407 [NCBI36]
Chr6:6q26-27
pathogenic
NM_016098.4(MPC1):c.317C>T (p.Thr106Met) single nucleotide variant not provided [RCV000195946] Chr6:166365442 [GRCh38]
Chr6:166778930 [GRCh37]
Chr6:6q27
uncertain significance
GRCh37/hg19 6q26-27(chr6:163731741-167090237)x1 copy number loss See cases [RCV000449040] Chr6:163731741..167090237 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3 copy number gain See cases [RCV000449011] Chr6:151214792..170892243 [GRCh37]
Chr6:6q25.1-27
pathogenic
GRCh37/hg19 6q27(chr6:165443824-170892302)x1 copy number loss See cases [RCV000239993] Chr6:165443824..170892302 [GRCh37]
Chr6:6q27
pathogenic
Single allele deletion not provided [RCV000768451] Chr6:162966301..170914973 [GRCh37]
Chr6:6q26-27
likely pathogenic
GRCh37/hg19 6q27(chr6:166331006-166984713)x1 copy number loss See cases [RCV000449260] Chr6:166331006..166984713 [GRCh37]
Chr6:6q27
uncertain significance
GRCh37/hg19 6q26-27(chr6:162381975-170919482)x1 copy number loss See cases [RCV000449121] Chr6:162381975..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh37/hg19 6q27(chr6:165622608-166897295)x3 copy number gain See cases [RCV000445739] Chr6:165622608..166897295 [GRCh37]
Chr6:6q27
uncertain significance
NM_016098.4(MPC1):c.30G>A (p.Ala10=) single nucleotide variant not provided [RCV000676791] Chr6:166382847 [GRCh38]
Chr6:166796335 [GRCh37]
Chr6:6q27
benign|likely benign
GRCh37/hg19 6q26-27(chr6:164361517-170919482)x1 copy number loss See cases [RCV000446024] Chr6:164361517..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh37/hg19 6q27(chr6:166571083-167265466)x1 copy number loss See cases [RCV000447812] Chr6:166571083..167265466 [GRCh37]
Chr6:6q27
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q27(chr6:166110423-170919482)x1 copy number loss See cases [RCV000510607] Chr6:166110423..170919482 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q26-27(chr6:164276935-170919482)x1 copy number loss See cases [RCV000511755] Chr6:164276935..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
NM_016098.4(MPC1):c.214A>G (p.Lys72Glu) single nucleotide variant Mitochondrial pyruvate carrier deficiency [RCV000578465] Chr6:166366065 [GRCh38]
Chr6:166779553 [GRCh37]
Chr6:6q27
likely pathogenic
GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3 copy number gain not provided [RCV000682734] Chr6:159844762..170919482 [GRCh37]
Chr6:6q25.3-27
pathogenic
GRCh37/hg19 6q27(chr6:165190527-170919482)x1 copy number loss not provided [RCV000682744] Chr6:165190527..170919482 [GRCh37]
Chr6:6q27
pathogenic
46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn complex Coffin-Siris syndrome 1 [RCV000714957] Chr6:151443333..171115067 [GRCh37]
Chr6:6q25.1-27
pathogenic
GRCh37/hg19 6q27(chr6:166686874-166891466)x3 copy number gain not provided [RCV000682745] Chr6:166686874..166891466 [GRCh37]
Chr6:6q27
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q25.1-27(chr6:150284435-170919470)x3 copy number gain not provided [RCV000746100] Chr6:150284435..170919470 [GRCh37]
Chr6:6q25.1-27
pathogenic
GRCh37/hg19 6q25.3-27(chr6:159155998-171054786)x3 copy number gain not provided [RCV000746132] Chr6:159155998..171054786 [GRCh37]
Chr6:6q25.3-27
pathogenic
GRCh37/hg19 6q27(chr6:165989942-171054786)x1 copy number loss not provided [RCV000746208] Chr6:165989942..171054786 [GRCh37]
Chr6:6q27
pathogenic
GRCh37/hg19 6q27(chr6:166702780-166873823)x1 copy number loss not provided [RCV000746210] Chr6:166702780..166873823 [GRCh37]
Chr6:6q27
benign
null single nucleotide variant not provided [RCV001725658] Chr6:166366190 [GRCh38]
Chr6:166779678 [GRCh37]
benign
null single nucleotide variant not provided [RCV001609944] Chr6:166370148 [GRCh38]
Chr6:166783636 [GRCh37]
Chr6:6q27
benign
NM_016098.4(MPC1):c.312T>A (p.Thr104=) single nucleotide variant not provided [RCV000922250] Chr6:166365447 [GRCh38]
Chr6:166778935 [GRCh37]
Chr6:6q27
likely benign
NM_016098.4(MPC1):c.318G>A (p.Thr106=) single nucleotide variant not provided [RCV000921100] Chr6:166365441 [GRCh38]
Chr6:166778929 [GRCh37]
Chr6:6q27
likely benign
GRCh37/hg19 6q26-27(chr6:162661108-170919482)x1 copy number loss not provided [RCV001005878] Chr6:162661108..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
GRCh37/hg19 6q27(chr6:166517762-170919470) copy number loss not provided [RCV000767664] Chr6:166517762..170919470 [GRCh37]
Chr6:6q27
pathogenic
NC_000006.12:g.166383333G>A single nucleotide variant not provided [RCV000832438] Chr6:166383333 [GRCh38]
Chr6:166796821 [GRCh37]
Chr6:6q27
likely benign
GRCh37/hg19 6q26-27(chr6:162452035-170919482)x1 copy number loss not provided [RCV001005874] Chr6:162452035..170919482 [GRCh37]
Chr6:6q26-27
pathogenic
NC_000006.12:g.166383177C>T single nucleotide variant not provided [RCV000828577] Chr6:166383177 [GRCh38]
Chr6:166796665 [GRCh37]
Chr6:6q27
benign
NM_016098.4(MPC1):c.76-2A>G single nucleotide variant not provided [RCV000805533] Chr6:166366893 [GRCh38]
Chr6:166780381 [GRCh37]
Chr6:6q27
uncertain significance
NC_000006.12:g.166383344C>G single nucleotide variant not provided [RCV000842762] Chr6:166383344 [GRCh38]
Chr6:166796832 [GRCh37]
Chr6:6q27
benign
NC_000006.12:g.166383232T>C single nucleotide variant not provided [RCV000842763] Chr6:166383232 [GRCh38]
Chr6:166796720 [GRCh37]
Chr6:6q27
benign
GRCh37/hg19 6q27(chr6:166607593-170919482)x1 copy number loss not provided [RCV000846415] Chr6:166607593..170919482 [GRCh37]
Chr6:6q27
pathogenic
null single nucleotide variant not provided [RCV001663095] Chr6:166382945 [GRCh38]
Chr6:166796433 [GRCh37]
Chr6:6q27
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001647707] Chr6:166365546 [GRCh38]
Chr6:166779034 [GRCh37]
Chr6:6q27
benign
NM_016098.4(MPC1):c.174C>T (p.Ala58=) single nucleotide variant not provided [RCV000896527] Chr6:166366105 [GRCh38]
Chr6:166779593 [GRCh37]
Chr6:6q27
likely benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001656606] Chr6:166366993 [GRCh38]
Chr6:166780481 [GRCh37]
Chr6:6q27
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001597627] Chr6:166365191 [GRCh38]
Chr6:166778679 [GRCh37]
Chr6:6q27
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001689014] Chr6:166382738 [GRCh38]
Chr6:166796226 [GRCh37]
Chr6:6q27
benign
null single nucleotide variant not provided [RCV001637201] Chr6:166383195 [GRCh38]
Chr6:166796683 [GRCh37]
Chr6:6q27
benign
NM_016098.4(MPC1):c.301C>T (p.His101Tyr) single nucleotide variant Fraser syndrome 3 [RCV001251006] Chr6:166365978 [GRCh38]
Chr6:166779466 [GRCh37]
Chr6:6q27
uncertain significance
GRCh37/hg19 6q27(chr6:166083476-170919482)x3 copy number gain not provided [RCV001258773] Chr6:166083476..170919482 [GRCh37]
Chr6:6q27
likely pathogenic
NM_016098.4(MPC1):c.220C>A (p.Gln74Lys) single nucleotide variant Mitochondrial pyruvate carrier deficiency [RCV001330903] Chr6:166366059 [GRCh38]
Chr6:166779547 [GRCh37]
Chr6:6q27
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21606 AgrOrtholog
COSMIC MPC1 COSMIC
Ensembl Genes ENSG00000060762 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000340784 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000354223 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000477853 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000479789 UniProtKB/TrEMBL
Ensembl Transcript ENST00000341756 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000360961 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000487218 ENTREZGENE
  ENST00000621630 UniProtKB/TrEMBL
  ENST00000621685 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000060762 GTEx
HGNC ID HGNC:21606 ENTREZGENE
Human Proteome Map MPC1 Human Proteome Map
InterPro MPC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51660 UniProtKB/Swiss-Prot
NCBI Gene 51660 ENTREZGENE
OMIM 614738 OMIM
  614741 OMIM
Pfam MPC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134940737 PharmGKB
UniProt A0A087WVZ0_HUMAN UniProtKB/TrEMBL
  MPC1_HUMAN UniProtKB/Swiss-Prot
  Q5TI65 ENTREZGENE, UniProtKB/TrEMBL
  Q9Y5U8 ENTREZGENE
UniProt Secondary B2R5I7 UniProtKB/Swiss-Prot
  H7BXW7 UniProtKB/TrEMBL
  Q5TI66 UniProtKB/Swiss-Prot
  Q9HB67 UniProtKB/Swiss-Prot
  Q9UQN4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-08-14 MPC1  mitochondrial pyruvate carrier 1  MPC1  mitochondrial pyruvate carrier 1  Symbol and/or name change 5135510 APPROVED
2012-08-07 MPC1  mitochondrial pyruvate carrier 1  BRP44L  brain protein 44-like  Symbol and/or name change 5135510 APPROVED