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TTC19 Gene

protein-coding   GIFtS: 50
GCID: GC17P015902

Tetratricopeptide Repeat Domain 19

  See TTC19-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Tetratricopeptide Repeat Domain 191 2
TPR Repeat Protein 192 3
MC3DN22 5
2010204O13Rik2
Tetratricopeptide Repeat Protein 19, Mitochondrial2

External Ids:    HGNC: 260061   Entrez Gene: 549022   Ensembl: ENSG000000112957   OMIM: 6138145   UniProtKB: Q6DKK23   

Export aliases for TTC19 gene to outside databases

Previous GC identifers: GC17P015843 GC17P015769


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TTC19 Gene:
This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa
each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in
a variety of functions including protein-protein interactions. This protein is embedded in the inner
mitochondrial membrane and is involved in the formation of the mitochondrial respiratory chain III. It has also
been suggested that this protein plays a role in cytokinesis. Mutations in this gene cause mitochondrial complex
III deficiency. Alternatively spliced transcript variants have been found for this gene. (provided by RefSeq, Sep
2012)

GeneCards Summary for TTC19 Gene:
TTC19 (tetratricopeptide repeat domain 19) is a protein-coding gene. Diseases associated with TTC19 include mitochondrial complex iii deficiency, nuclear type 2, and mitochondrial respiratory chain complex iii deficiency, ttc19-related.

UniProtKB/Swiss-Prot: TTC19_HUMAN, Q6DKK2
Function: Mitochondrial protein required for formation of the mitochondrial complex III (PubMed:21278747). May
also be required for the abcission step in cytokinesis, possibly regulating the ESCRT-III complex via its
interaction with CHMP4B (PubMed:20208530). However, the involvement in cytokinesis requires additional
experimental evidence




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NC_018928.2  NT_010718.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the TTC19 gene promoter:
         Nkx3-1   Nkx3-1 v4   Nkx3-1 v1   Nkx3-1 v2   MEF-2A   CREB   deltaCREB   Cart-1   Nkx3-1 v3   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTTC19 promoter sequence
   Search Chromatin IP Primers for TTC19

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TTC19


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

Entrez Gene cytogenetic band: 17p12   Ensembl cytogenetic band:  17p12   HGNC cytogenetic band: 17p11.2

TTC19 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTC19 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P015902:  view genomic region     (about GC identifiers)

Start:
15,902,694 bp from pter      End:
15,948,329 bp from pter
Size:
45,636 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TTC19_HUMAN, Q6DKK2 (See protein sequence)
Recommended Name: Tetratricopeptide repeat protein 19, mitochondrial precursor  
Size: 380 amino acids; 42457 Da
Subunit: Interacts with UQCRC1 and UQCRFS1 (By similarity). Interacts with ZFYVE26 and CHMP4B
Sequence caution: Sequence=AAH11698.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAH73796.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAI05129.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAI12108.1; Type=Erroneous
initiation; Note=Translation N-terminally shortened; Sequence=BAA91103.1; Type=Erroneous initiation;
Note=Translation N-terminally extended; Sequence=BAB15296.1; Type=Erroneous initiation; Note=Translation
N-terminally extended; Sequence=BAG51574.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAG51820.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A8MZ52 B3KP62 B4DN65 Q2M248 Q7L3U8 Q9H6G3 Q9NXB2

Explore the universe of human proteins at neXtProt for TTC19: NX_Q6DKK2

Explore proteomics data for TTC19 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys251
  • Modification sites at PhosphoSitePlus

  • See TTC19 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001258349.1  NP_060245.3  

    ENSEMBL proteins: 
     ENSP00000261647   ENSP00000466261   ENSP00000465754   ENSP00000465082   ENSP00000465627  
     ENSP00000468372   ENSP00000436056  

    TTC19 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for TTC19

     
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    antibodies-online peptides for TTC19

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TTC: Tetratricopeptide (TTC) repeat domain containing

    3 InterPro protein domains:
     IPR011990 TPR-like_helical
     IPR026000 Apc5/TPR19_dom
     IPR013026 TPR-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q6DKK2

    ProtoNet protein and cluster: Q6DKK2

    UniProtKB/Swiss-Prot: TTC19_HUMAN, Q6DKK2
    Similarity: Belongs to the TTC19 family
    Similarity: Contains 5 TPR repeats


    Find genes that share domains with TTC19           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TTC19_HUMAN, Q6DKK2
    Function: Mitochondrial protein required for formation of the mitochondrial complex III (PubMed:21278747). May
    also be required for the abcission step in cytokinesis, possibly regulating the ESCRT-III complex via its
    interaction with CHMP4B (PubMed:20208530). However, the involvement in cytokinesis requires additional
    experimental evidence

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0042802identical protein binding ----
         
    Find genes that share ontologies with TTC19           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for TTC19

    miRNA
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    miRTarBase miRNAs that target TTC19:
    hsa-mir-30c-5p (MIRT047845)

    Block miRNA regulation of human, mouse, rat TTC19 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TTC19 (see all 9):
    hsa-miR-433 hsa-miR-34c-5p hsa-miR-205 hsa-miR-634 hsa-miR-449b hsa-miR-449a hsa-miR-1253 hsa-miR-34a
    SwitchGear 3'UTR luciferase reporter plasmidTTC19 3' UTR sequence
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    GenScript: all cDNA clones in your preferred vector: TTC19 (NM_017775)
    Browse Sino Biological Human cDNA Clones
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TTC19_HUMAN, Q6DKK2: Mitochondrion inner membrane. Cytoplasm, cytoskeleton, microtubule organizing center,
    centrosome. Midbody. Note=According to some authors, localizes to the centrosome during all stages of the cell
    cycle and is recruited to the midbody during cytokinesis (PubMed:20208530). However, the midbody localization
    could not be confirmed by others (PubMed:21278747)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    mitochondrion5
    nucleus2
    cytosol1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane IDA--
    GO:0005813centrosome TAS--
    GO:0030496midbody TAS--

    Find genes that share ontologies with TTC19           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TTC19
    Interactions:

        Search GeneGlobe Interaction Network for TTC19

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for TTC19 (Q6DKK22, 3 ENSP000002616474) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542532, 3, ENSP000002447694MINT-2873977 I2D: score=3 STRING: ENSP00000244769
    SPRED1Q7Z6992, 3, ENSP000002990844MINT-8275677 I2D: score=2 STRING: ENSP00000299084
    HPS6Q86YV92, 3, ENSP000002992384MINT-8275666 I2D: score=2 STRING: ENSP00000299238
    UBA1P223142, 3, ENSP000003384134MINT-8275688 I2D: score=2 STRING: ENSP00000338413
    UPF3BQ9BZI73, ENSP000002762014I2D: score=4 STRING: ENSP00000276201
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000910cytokinesis TAS--
    GO:0034551mitochondrial respiratory chain complex III assembly IMP--

    Find genes that share ontologies with TTC19           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TTC19



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TTC19 gene (2 alternative transcripts): 
    NM_001271420.1  NM_017775.3  

    Unigene Cluster for TTC19:

    Tetratricopeptide repeat domain 19
    Hs.462316  [show with all ESTs]
    Unigene Representative Sequence: NM_001271420
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261647(uc002gph.2 uc021tqp.1) ENST00000466729 ENST00000475723
    ENST00000583704 ENST00000497842 ENST00000470399 ENST00000481107(uc002gpj.3)
    ENST00000465567(uc002gpk.4) ENST00000470649 ENST00000578103 ENST00000486880

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate TTC19 (see all 9):
    hsa-miR-433 hsa-miR-34c-5p hsa-miR-205 hsa-miR-634 hsa-miR-449b hsa-miR-449a hsa-miR-1253 hsa-miR-34a
    SwitchGear 3'UTR luciferase reporter plasmidTTC19 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat TTC19

    Additional mRNA sequence: 

    AK000350.1 AK025958.1 AK055780.1 AK056878.1 AK297783.1 BC011698.2 BC073796.1 BC105128.1 
    BC112107.1 

    22 DOTS entries:

    DT.444497  DT.100817644  DT.40278653  DT.100822047  DT.99983444  DT.100026819  DT.120903437  DT.120903510 
    DT.120903488  DT.75114142  DT.100822046  DT.120903559  DT.100822045  DT.95104784  DT.95250787  DT.100822049 
    DT.101959939  DT.120903560  DT.75138043  DT.95128358  DT.97821567  DT.87015989 

    Selected AceView cDNA sequences (see all 271):

    AA477988 AI521749 AW955315 AI471199 AI816096 CR612615 AA700804 BE122922 
    AI268814 AA477550 AI017352 AA345370 BQ230399 AI821633 BU620112 AI718438 
    BQ218832 BE781294 AI245298 CR615463 AA314502 F28077 CD722019 CA943854 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TTC19 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b
    SP1:                          -                 -           -                             -     -     -                           
    SP2:                          -                             -                             -     -     -                           
    SP3:                                            -           -                                   -     -                           
    SP4:                          -           -     -           -                                                                     
    SP5:                          -                                                                                                   


    ECgene alternative splicing isoforms for TTC19

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TTC19 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TTC19 Expression
    About this image


    TTC19 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    TTC19 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TTC19 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.462316
        Custom PCR Arrays for TTC19
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC19

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for TTC19 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ttc191 , 5 tetratricopeptide repeat domain 191, 5 84.57(n)1
    83.01(a)1
      11 (38.02 cM)5
    727951  NM_028360.21  NP_082636.31 
     622814735 
    chicken
    (Gallus gallus)
    Aves TTC191 tetratricopeptide repeat domain 19 63.78(n)
    56.42(a)
      417597  XM_004946653.1  XP_004946710.1 
    lizard
    (Anolis carolinensis)
    Reptilia TTC196
    tetratricopeptide repeat domain 19
    52(a)
    1 ↔ 1
    AAWZ02036535(22178-25068)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004859921 tetratricopeptide repeat protein 19, mitochondrial-like 61.13(n)
    54.51(a)
      100485992  XM_002938246.2  XP_002938292.2 
    zebrafish
    (Danio rerio)
    Actinopterygii ttc191 tetratricopeptide repeat domain 19 56.74(n)
    51.06(a)
      564788  XM_688118.6  XP_693210.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ttc191 Tetratricopeptide repeat domain 19 43(n)
    26.34(a)
      35172  NM_136090.3  NP_609934.3 
    worm
    (Caenorhabditis elegans)
    Secernentea ddl-36
    Protein DDL-3, isoform b (ddl-3) mRNA, complete cd...
    20(a)
    1 ↔ 1
    II(14340006-14344454) WBGene00013217


    ENSEMBL Gene Tree for TTC19 (if available)
    TreeFam Gene Tree for TTC19 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TTC19 gene
    1 SIMAP similar gene for TTC19 using alignment to 6 protein entries:     TTC19_HUMAN (see all proteins):
    KLC3

    Find genes that share paralogs with TTC19           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TTC19 (see all 693)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1492026471,2
    C--15773810(+) TTATT-/ATT   
      G
    /TATT
    GTAGA
    2 -- int10--------
    rs358609581,2
    C--15788212(+) CTTTG-/TTTTTC 2 -- int10--------
    rs340414951,2
    C--15788613(+) TCCCTG/-GGTGA 2 -- int11Minor allele frequency- -:0.50NA 2
    rs105691111,2
    C--15789952(+) GAACC-/TGTTTTT 2 -- int11Minor allele frequency- TG:0.00CSA 2
    rs357051601,2
    C--15789953(+) AACCTGT/-TTTTT 2 -- int11Minor allele frequency- -:0.50NA 2
    rs745750781,2
    C--15789953(+) AACCTT/GTTTTT 2 -- int11Minor allele frequency- G:0.00CSA 1
    rs1394661451,2
    C--15794649(+) AATTC-/TTTT  
      TTTTCT
    TTTTT
    2 -- int10--------
    rs351581161,2
    C--15796501(+) CATAAT/-TACAG 2 -- int11Minor allele frequency- -:0.50NA 2
    rs1510169851,2
    C--15889001(+) CATCAG/TACAAA 2 -- us2k10--------
    rs1855421021,2
    --15889058(+) GGTTAC/GGAAGG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for TTC19 (15902694 - 15948329 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for TTC19:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2715702CNV Deletion23290073
    nsv833377CNV Loss17160897
    esv29086CNV Loss19812545
    dgv3062n71CNV Gain21882294
    nsv522169CNV Gain19592680
    nsv907706CNV Gain21882294

    Human Gene Mutation Database (HGMD): TTC19
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TTC19
    DNA2.0 Custom Variant and Variant Library Synthesis for TTC19

    (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

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    OMIM gene information: 613814   
    OMIM disorders: 615157  
    UniProtKB/Swiss-Prot: TTC19_HUMAN, Q6DKK2
  • Mitochondrial complex III deficiency, nuclear 2 (MC3DN2) [MIM:615157]: A disorder of the mitochondrial
    respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical
    features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver
    dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 4 diseases for TTC19:    
    About MalaCards
    mitochondrial complex iii deficiency, nuclear type 2    mitochondrial respiratory chain complex iii deficiency, ttc19-related    mitochondrial complex iii deficiency    mitochondrial complex iii deficiency, nuclear type 6


    Find genes that share disorders with TTC19           About GenesLikeMe

    Genetic Association Database (GAD): TTC19
    Human Genome Epidemiology (HuGE) Navigator: TTC19 (1 document)

    Export disorders for TTC19 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

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    PubMed articles for TTC19 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with TTC19)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. (PubMed id 21278747)1, 2 Ghezzi D....Zeviani M. (Nat. Genet. 2011)
    2. PtdIns(3)P controls cytokinesis through KIF13A-mediated recruitment of FYVE-CENT to the midbody. (PubMed id 20208530)1, 2 Sagona A.P.... Stenmark H. (Nat. Cell Biol. 2010)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    4. 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. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency. (PubMed id 23532514)1 Nogueira C....Santorelli F.M. (Neurogenetics 2013)
    7. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    9. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    10. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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

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    Entrez Gene: 54902 HGNC: 26006 AceView: TTC19 Ensembl:ENSG00000011295 euGenes: HUgn54902
    ECgene: TTC19 H-InvDB: TTC19

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for TTC19 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for TTC19 gene:
    Search GeneIP for patents involving TTC19

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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    About This Section

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