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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MTERFD1 Gene

protein-coding   GIFtS: 46
GCID: GC08M097321

MTERF domain containing 1

 Explore 4 diseases affiliated with
MTERFD1 via our new
 Human Malady Compendium 
Biological research products
for MTERFD1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
MTERF Domain Containing 11 2
Mitochondrial Transcription Termination Factor 32 3
MTERF31
CGI-121
FLJ109391
MTERF Domain-Containing Protein 1, Mitochondrial2

External Ids:    HGNC: 242581   Entrez Gene: 510012   Ensembl: ENSG000001564697   UniProtKB: Q96E293   

Export aliases for MTERFD1 gene to outside databases

Previous GC identifer: GC08M092457


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: MTER1_HUMAN, Q96E29
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)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_008046.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MTERFD1 gene promoter:
         c-Fos   TBP   AP-1   Sp1   Pax-6   XBP-1   Nkx2-5   ARP-1   c-Jun   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMTERFD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MTERFD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MTERFD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q22.1   Ensembl cytogenetic band:  8q22.1   HGNC cytogenetic band: 8q22.1

MTERFD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTERFD1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M097321:  view genomic region     (about GC identifiers)

Start:
97,251,626 bp from pter      End:
97,273,838 bp from pter
Size:
22,213 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MTER1_HUMAN, Q96E29 (See protein sequence)
Recommended Name: mTERF domain-containing protein 1, mitochondrial precursor  
Size: 417 amino acids; 47971 Da
Subcellular location: Mitochondrion
Sequence caution: Sequence=AAD27721.1; Type=Frameshift; Positions=261, 262;
2 PDB 3D structures from and Proteopedia for MTERFD1:
3M66 (3D)        3OPG (3D)    
Secondary accessions: Q9Y301
Alternative splicing: 2 isoforms:  Q96E29-1   Q96E29-2   

Explore the universe of human proteins at neXtProt for MTERFD1: NX_Q96E29

MTERFD1 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_057026.3  
ENSEMBL proteins: 
 ENSP00000429400   ENSP00000430138   ENSP00000429267   ENSP00000287025   ENSP00000429526  

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Uscn Proteins for MTERFD1

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005739mitochondrion IDA17662942


MTERFD1 for ontologies           About GeneDecksing



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Uscn ELISAs and CLIAs for MTERFD1


(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MTERFD1 for domains           About GeneDecksing

1 InterPro domain/family:
 IPR003690 Mit_transcrip_term-rel

Graphical View of Domain Structure for InterPro Entry Q96E29

ProtoNet protein and cluster: Q96E29

UniProtKB/Swiss-Prot: MTER1_HUMAN, Q96E29
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


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

     UniProtKB/Swiss-Prot: MTER1_HUMAN, Q96E29
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)

miRNA
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OriGene siRNA: MTERFD1
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MTERFD1

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTERFD1

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0044212transcription regulatory region DNA binding IDA17662942


MTERFD1 for ontologies           About GeneDecksing


Animal Models:
     Mouse knock-out Mterfd1tm1.2Lrsn for MTERFD1
     6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Mterfd1):
 cardiovascular system  cellular  embryogenesis  growth/size  mortality/aging 
 muscle 

MTERFD1 for phenotypes           About GeneDecksing


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways  About this table 
See pathways by source

Super-pathwaycontained gene-specific pathways
1Mitochondrial Gene Expression
Mitochondrial Gene Expression1.00


1 BioSystems Pathway for MTERFD1 
    Mitochondrial Gene Expression


Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MTERFD1

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5/232 Interacting proteins for MTERFD1 (Q96E292, 3 ENSP000002870254) via UniProtKB, MINT, STRING, and/or I2D (see all 232)
InteractantInteraction Details
GeneCardExternal ID(s)
ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
WBSCR16Q96I512, ENSP000003337994MINT-8079030 STRING: ENSP00000333799
COPS2P612013, ENSP000002992594I2D: score=5 STRING: ENSP00000299259
PTCD1O751272, ENSP000002924784MINT-8079030 STRING: ENSP00000292478
MAP2K2P365073I2D: score=2 
About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006351transcription, DNA-dependent IEA--
GO:0045892negative regulation of transcription, DNA-dependent IMP17662942


MTERFD1 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MTERFD1
Search CenterWatch for drugs/clinical trials and news about MTERFD1 / MTER1 

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MTERFD1 gene: 
NM_015942.3  

Unigene Cluster for MTERFD1:

MTERF domain containing 1
Hs.308613  [show with all ESTs]
Unigene Representative Sequence: AK309002
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000523821(uc003yhs.1 uc010mbd.1) ENST00000522822(uc003yhr.1)
ENST00000524341 ENST00000287025 ENST00000517720

miRNA
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Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MTERFD1 (see all 7)
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OriGene siRNA: MTERFD1
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MTERFD1
Clone
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MTERFD1

Additional cDNA sequence: 

AF132946.1 AK001801.1 AK309002.1 BC012995.2 

6 DOTS entries:

DT.111050  DT.100801809  DT.100813487  DT.95360897  DT.95367524  DT.121483332 

24/67 AceView cDNA sequences (see all 67):

AI910752 AI768914 N47203 CA309478 CR590927 AA197135 CR609730 CR595557 
NM_015942 AA197177 AI474514 CR610912 AK001801 AI202907 BP337115 CD723732 
AA197150 AI611095 BC012995 BU683612 BX116525 AL523093 CB139716 BI836274 

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for MTERFD1    About this scheme

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1:              -                 -                                             
SP2:                                                                              
SP3:                                                                              


ECgene alternative splicing isoforms for MTERFD1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MTERFD1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAATTTTCTC

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

About this image
See MTERFD1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MTERFD1

SOURCE GeneReport for Unigene cluster: Hs.308613

UniProtKB/Swiss-Prot: MTER1_HUMAN, Q96E29
Tissue specificity: Highly expressed in heart, liver, kidney and testis. Detected at lower levels in brain, spleen and
lung

    SABiosciences Custom PCR Arrays for MTERFD1
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTERFD1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for MTERFD1 gene from 7/21 species (see all 21)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Mterfd11 , 5 MTERF domain containing 11, 5 82.61(n)1
77.43(a)1
  13 (34.54 cM)5
664101  NM_025547.31  NP_079823.21 
 669069685 
chicken
(Gallus gallus)
Aves MTERFD11 MTERF domain containing 1 68.8(n)
62.21(a)
  420237  NM_001006348.1  NP_001006348.1 
lizard
(Anolis carolinensis)
Reptilia MTERFD16
--
68(a)
1 ↔ 1
4(19887366-19895251)
African clawed frog
(Xenopus laevis)
Amphibia Xl.240242 Xenopus laevis transcribed sequence with weak similarity more 75.84(n)    CA983109.1 
zebrafish
(Danio rerio)
Actinopterygii mterfd11 MTERF domain containing 1 60.15(n)
60.26(a)
  436888  NM_001002615.1  NP_001002615.1 
fruit fly
(Drosophila melanogaster)
Insecta mTerf31 CG5047-PA 48.05(n)
40.51(a)
  40279  NM_140983.2  NP_649240.1 
worm
(Caenorhabditis elegans)
Secernentea CELE_C50F4.121 Protein C50F4.12 45.96(n)
31.62(a)
  179336  NM_073059.2  NP_505460.1 


ENSEMBL Gene Tree for MTERFD1 (if available)
TreeFam Gene Tree for MTERFD1 (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/326 NCBI SNPs in MTERFD1 are shown (see all 326    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 8 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs736985531,2
C,--97251197(+) TAGTTA/TAGCCT 1 -- int13Minor allele frequency- T:0.12WA CSA 121
rs1496606711,2
--97251403(+) AAATAA/CAGCCA 1 -- int10--------
rs1870135941,2
--97251457(+) TTCACA/GAGAAT 1 -- int10--------
rs2004648181,2
--97251682(+) TATATC/TCACTT 1 -- ut310--------
rs74619701,2
C,H--97251786(+) ATATTT/CCATCA 2 /E /G mis1 ese35Minor allele frequency- C:0.00NS EA NA 408
rs1141633041,2
C,F,--97251833(+) GGTTTT/CGCTGG 2 /A syn12Minor allele frequency- C:0.00WA NA 4638
rs1477271731,2
C,F--97251842(+) GGATCA/TTACTG 2 * Y stg11Minor allele frequency- T:0.00NA 4526
rs20302191,2
C,A,H,--97251953(+) CACACG/AGGAGG 1 -- int14Minor allele frequency- A:0.00NS EA 418
rs784863951,2
C,--97252076(+) TTCTGT/GGAAGA 1 -- int12Minor allele frequency- G:0.12WA 120
rs1166339091,2
--97252081(+) TGAAGA/GAACTA 1 -- int11Minor allele frequency- G:0.01WA 118

HapMap Linkage Disequilibrium report for MTERFD1 (97251626 - 97273838 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for MTERFD1
     1 Indel: 70405

SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MTERFD1
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

MTERFD1 for disorders           About GeneDecksing

4 diseases for MTERFD1:    About MalaCards
proliferative vitreoretinopathy    retinal detachment    vitreoretinopathy    retinitis

Human Genome Epidemiology (HuGE) Navigator: MTERFD1 (1 document)

Export disorders for MTERFD1 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for MTERFD1 gene, integrated from 9 sources (see all 16):
(articles sorted by number of sources associating them with MTERFD1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2, 3 Lai C.H....Lin W. (2000)
  2. MTERF3 is a negative regulator of mammalian mtDNA transcription. (PubMed id 17662942)1, 2 Park C.B.... Larsson N.G. (2007)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  4. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
  5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
  6. Overexpression of MTERFD1 or MTERFD3 impairs the comp letion of mitochondrial DNA replication. (PubMed id 20577816)1 HyvAorinen A.K....Jacobs H.T. (2011)
  7. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
  8. A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. (PubMed id 20186120)1 Richter R....Chrzanowska-Lightowlers Z.M. (2010)
  9. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
  10. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 51001 HGNC: 24258 AceView: CGI-12 Ensembl:ENSG00000156469 euGenes: HUgn51001
ECgene: MTERFD1 H-InvDB: MTERFD1

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for MTERFD1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for MTERFD1 gene:
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