Human Gene MTCH1 (ENST00000373616.9) from GENCODE V44
  Description: Homo sapiens mitochondrial carrier 1 (MTCH1), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_014341)
RefSeq Summary (NM_014341): This gene encodes a member of the mitochondrial carrier family. The encoded protein is localized to the mitochondrion inner membrane and induces apoptosis independent of the proapoptotic proteins Bax and Bak. Pseudogenes on chromosomes 6 and 11 have been identified for this gene. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Oct 2012].
Gencode Transcript: ENST00000373616.9
Gencode Gene: ENSG00000137409.21
Transcript (Including UTRs)
   Position: hg38 chr6:36,968,141-36,986,298 Size: 18,158 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg38 chr6:36,968,903-36,986,173 Size: 17,271 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:36,968,141-36,986,298)mRNA (may differ from genome)Protein (372 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MTCH1_HUMAN
DESCRIPTION: RecName: Full=Mitochondrial carrier homolog 1; AltName: Full=Presenilin-associated protein;
FUNCTION: Potential mitochondrial transporter. May play a role in apoptosis.
SUBUNIT: Interacts with PSEN1.
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein (Potential).
TISSUE SPECIFICITY: Widely expressed with a predominant expression in brain.
SIMILARITY: Belongs to the mitochondrial carrier family.
SIMILARITY: Contains 2 Solcar repeats.
SEQUENCE CAUTION: Sequence=AAF07936.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 213.22 RPKM in Thyroid
Total median expression: 4554.20 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -72.40125-0.579 Picture PostScript Text
3' UTR -279.90762-0.367 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR018108 - Mitochondrial_sb/sol_carrier
IPR023395 - Mt_carrier_dom

Pfam Domains:
PF00153 - Mitochondrial carrier protein

ModBase Predicted Comparative 3D Structure on Q9NZJ7
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI     
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0006915 apoptotic process
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0009966 regulation of signal transduction
GO:0043065 positive regulation of apoptotic process
GO:0045161 neuronal ion channel clustering

Cellular Component:
GO:0005622 intracellular
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AY358519 - Homo sapiens clone DNA60736 MTCH1 (UNQ1871) mRNA, complete cds.
BC006507 - Homo sapiens mitochondrial carrier homolog 1 (C. elegans), mRNA (cDNA clone IMAGE:2961182), partial cds.
AF151822 - Homo sapiens CGI-64 protein mRNA, complete cds.
BC000702 - Homo sapiens mitochondrial carrier homolog 1 (C. elegans), mRNA (cDNA clone IMAGE:3347860), partial cds.
BC040659 - Homo sapiens mitochondrial carrier homolog 1 (C. elegans), mRNA (cDNA clone IMAGE:4798521), partial cds.
BC052312 - Homo sapiens mRNA similar to hypothetical protein MGC27648 (cDNA clone IMAGE:6671490).
BC082265 - Homo sapiens cDNA clone IMAGE:6579774, **** WARNING: chimeric clone ****.
AF189289 - Homo sapiens presenilin-associated protein mRNA, complete cds.
AY947344 - Homo sapiens cell proliferation-inducing protein 60 (PIG60) mRNA, complete cds.
BC009962 - Homo sapiens mitochondrial carrier homolog 1 (C. elegans), mRNA (cDNA clone IMAGE:4300175), partial cds.
AK225628 - Homo sapiens mRNA for mitochondrial carrier homolog 1 variant, clone: SPL01001.
AF176006 - Homo sapiens mitochondrial carrier homolog 1 isoform a mRNA, complete cds; nuclear gene for mitochondrial product.
AF192559 - Homo sapiens mitochondrial carrier homolog 1 isoform b (MTCH1) mRNA, partial cds; nuclear gene for mitochondrial product.
BC110914 - Homo sapiens mitochondrial carrier homolog 1 (C. elegans), mRNA (cDNA clone MGC:131998 IMAGE:5179722), complete cds.
AK130842 - Homo sapiens cDNA FLJ27332 fis, clone TMS08752.
AK022783 - Homo sapiens cDNA FLJ12721 fis, clone NT2RP1001310, highly similar to Mitochondrial carrier homolog 1.
JD084839 - Sequence 65863 from Patent EP1572962.
JD495136 - Sequence 476160 from Patent EP1572962.
JD234993 - Sequence 216017 from Patent EP1572962.
JD086625 - Sequence 67649 from Patent EP1572962.
JD254058 - Sequence 235082 from Patent EP1572962.
BC125056 - Homo sapiens mitochondrial carrier homolog 1 (C. elegans), mRNA (cDNA clone IMAGE:40116796), partial cds.
BC125055 - Homo sapiens cDNA clone IMAGE:40116795, containing frame-shift errors.
BC153873 - Homo sapiens mitochondrial carrier homolog 1 (C. elegans), mRNA (cDNA clone MGC:171153 IMAGE:40116803), complete cds.
JD033179 - Sequence 14203 from Patent EP1572962.
JD019760 - Sequence 784 from Patent EP1572962.
JD246102 - Sequence 227126 from Patent EP1572962.
JD195168 - Sequence 176192 from Patent EP1572962.
JD400795 - Sequence 381819 from Patent EP1572962.
JD425001 - Sequence 406025 from Patent EP1572962.
JD143364 - Sequence 124388 from Patent EP1572962.
JD130820 - Sequence 111844 from Patent EP1572962.
JD369621 - Sequence 350645 from Patent EP1572962.
JD383699 - Sequence 364723 from Patent EP1572962.
AK315067 - Homo sapiens cDNA, FLJ96021, Homo sapiens mitochondrial carrier homolog 1 (C. elegans) (MTCH1),nuclear gene encoding mitochondrial protein, mRNA.
KJ902367 - Synthetic construct Homo sapiens clone ccsbBroadEn_11761 MTCH1 gene, encodes complete protein.
AK303318 - Homo sapiens cDNA FLJ54217 complete cds, highly similar to Mitochondrial carrier homolog 1.
KJ902368 - Synthetic construct Homo sapiens clone ccsbBroadEn_11762 MTCH1 gene, encodes complete protein.
CU691916 - Synthetic construct Homo sapiens gateway clone IMAGE:100020911 5' read MTCH1 mRNA.
CU674346 - Synthetic construct Homo sapiens gateway clone IMAGE:100020668 5' read MTCH1 mRNA.
JD027206 - Sequence 8230 from Patent EP1572962.
JD029371 - Sequence 10395 from Patent EP1572962.
JD025696 - Sequence 6720 from Patent EP1572962.
JD338019 - Sequence 319043 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8KAX5, B2RCE3, CGI-64, ENST00000373616.1, ENST00000373616.2, ENST00000373616.3, ENST00000373616.4, ENST00000373616.5, ENST00000373616.6, ENST00000373616.7, ENST00000373616.8, MTCH1_HUMAN, NM_014341, PSAP, Q6PK60, Q6UX45, Q7L465, Q9BW23, Q9NZJ7, Q9NZR6, Q9UJZ5, uc003onc.1, uc003onc.2, uc003onc.3, UNQ1871/PRO4314
UCSC ID: ENST00000373616.9
RefSeq Accession: NM_014341
Protein: Q9NZJ7 (aka MTCH1_HUMAN)
CCDS: CCDS4828.1, CCDS64411.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.