Human Gene MTERFD1 (uc003yhs.1) Description and Page Index
  Description: Homo sapiens MTERF domain containing 1 (MTERFD1), nuclear gene encoding mitochondrial protein, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr8:97,251,645-97,273,796 Size: 22,152 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr8:97,251,719-97,270,918 Size: 19,200 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr8:97,251,645-97,273,796)mRNA (may differ from genome)Protein (417 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=mTERF domain-containing protein 1, mitochondrial; AltName: Full=Mitochondrial transcription termination factor 3; Short=mTERF3; Flags: Precursor;
FUNCTION: Binds promoter DNA and regulates initiation of transcription. Required for normal mitochondrial transcription, and for normal assembly of mitochondrial respiratory complexes. Required for normal mitochondrial function (By similarity).
TISSUE SPECIFICITY: Highly expressed in heart, liver, kidney and testis. Detected at lower levels in brain, spleen and lung.
DOMAIN: Contains seven structural repeats of about 35 residues, where each repeat contains three helices. The repeats form a superhelical structure with a solenoid shape.
SIMILARITY: Belongs to the mTERF family.
SEQUENCE CAUTION: Sequence=AAD27721.1; Type=Frameshift; Positions=261, 262;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MTERFD1
CDC HuGE Published Literature: MTERFD1

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

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.58 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 370.58 RPKM

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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -26.1078-0.335 Picture PostScript Text
3' UTR -9.2074-0.124 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
IPR003690 - Mit_transcrip_term-rel

Pfam Domains:
PF02536 - mTERF

Protein Data Bank (PDB) 3-D Structure
MuPIT help

- X-ray MuPIT

- X-ray

ModBase Predicted Comparative 3D Structure on Q96E29
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
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 Protein SequenceProtein SequenceProtein SequenceProtein Sequence 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0003690 double-stranded DNA binding
GO:0003727 single-stranded RNA binding
GO:0005515 protein binding
GO:0019843 rRNA binding
GO:0044212 transcription regulatory region DNA binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0008380 RNA splicing
GO:0016236 macroautophagy
GO:0032502 developmental process
GO:0042254 ribosome biogenesis
GO:0042255 ribosome assembly
GO:0045892 negative regulation of transcription, DNA-templated

Cellular Component:
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane

-  Descriptions from all associated GenBank mRNAs
  HQ448290 - Synthetic construct Homo sapiens clone IMAGE:100071694; CCSB006050_02 MTERF domain containing 1 (MTERFD1) gene, encodes complete protein.
KJ893770 - Synthetic construct Homo sapiens clone ccsbBroadEn_03164 MTERFD1 gene, encodes complete protein.
AK309002 - Homo sapiens cDNA, FLJ99043.
BC012995 - Homo sapiens MTERF domain containing 1, mRNA (cDNA clone MGC:3363 IMAGE:3529518), complete cds.
AF132946 - Homo sapiens CGI-12 protein mRNA, complete cds.
AK001801 - Homo sapiens cDNA FLJ10939 fis, clone OVARC1001065, highly similar to Homo sapiens MTERF domain containing 1 (MTERFD1), mRNA.
CU680462 - Synthetic construct Homo sapiens gateway clone IMAGE:100017222 5' read MTERFD1 mRNA.
JD164237 - Sequence 145261 from Patent EP1572962.
JD145965 - Sequence 126989 from Patent EP1572962.
JD271478 - Sequence 252502 from Patent EP1572962.
JD460937 - Sequence 441961 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96E29 (Reactome details) participates in the following event(s):

R-HSA-5205673 p62 binds ubiquitinated mitochondrial substrates
R-HSA-5205682 Parkin promotes the ubiquitination of mitochondrial substrates
R-HSA-5205649 p62 links damaged mitochondria to LC3
R-HSA-5205663 LC3 binds the autophagosome membrane Atg5-Atg12 complex
R-HSA-5205685 Pink/Parkin Mediated Mitophagy
R-HSA-5205647 Mitophagy

-  Other Names for This Gene
  Alternate Gene Symbols: CGI-12, MTER1_HUMAN, NM_015942, NP_057026, Q96E29, Q9Y301
UCSC ID: uc003yhs.1
RefSeq Accession: NM_015942
Protein: Q96E29 (aka MTER1_HUMAN)
CCDS: CCDS6270.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_015942.3
exon count: 8CDS single in 3' UTR: no RNA size: 1424
ORF size: 1254CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2708.00frame shift in genome: no % Coverage: 98.74
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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