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TTC31 Gene

protein-coding   GIFtS: 43
GCID: GC02P074710

Tetratricopeptide Repeat Domain 31

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(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 311 2
TPR Repeat Protein 312 3
Tetratricopeptide Repeat Protein 312

External Ids:    HGNC: 257591   Entrez Gene: 644272   Ensembl: ENSG000001152827   UniProtKB: Q49AM33   

Export aliases for TTC31 gene to outside databases

Previous GC identifers: GC02P074564 GC02P074446


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TTC31 Gene:
TTC31 (tetratricopeptide repeat domain 31) is a protein-coding gene. An important paralog of this gene is STIP1.


(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_000002.11  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TTC31 gene promoter:
         ER-alpha   Elk-1   NF-1/L   NF-1   Pax-6   GCNF   Olf-1   MyoD   GCNF-1   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTTC31 promoter sequence
   Search Chromatin IP Primers for TTC31

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TTC31


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

Entrez Gene cytogenetic band: 2p13.1   Ensembl cytogenetic band:  2p13.1   HGNC cytogenetic band: 2p13.1

TTC31 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTC31 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P074710:  view genomic region     (about GC identifiers)

Start:
74,710,200 bp from pter      End:
74,722,013 bp from pter
Size:
11,814 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: TTC31_HUMAN, Q49AM3 (See protein sequence)
Recommended Name: Tetratricopeptide repeat protein 31  
Size: 519 amino acids; 57105 Da
Secondary accessions: Q4KN40 Q53FD4 Q9H9F7
Alternative splicing: 2 isoforms:  Q49AM3-1   Q49AM3-2   

Explore the universe of human proteins at neXtProt for TTC31: NX_Q49AM3

Explore proteomics data for TTC31 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TTC31 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_071937.4  
    ENSEMBL proteins: 
     ENSP00000388495   ENSP00000389127   ENSP00000387213   ENSP00000233623   ENSP00000387843  
     ENSP00000416823  

    TTC31 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for TTC31

     
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    antibodies-online proteins for TTC31 

     
    Search antibodies-online for peptides for TTC31

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    antibodies-online antibodies for TTC31 (2 products) 

    TTC31 Assay Products:

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    Cloud-Clone Corp. ELISAs for TTC31
    Cloud-Clone Corp. CLIAs for TTC31
    Search eBioscience for ELISAs for TTC31 
    antibodies-online kits for TTC31 (2 products) 


    (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

    4 InterPro protein domains:
     IPR011990 TPR-like_helical
     IPR013105 TPR_2
     IPR013026 TPR-contain_dom
     IPR019734 TPR_repeat

    Graphical View of Domain Structure for InterPro Entry Q49AM3

    ProtoNet protein and cluster: Q49AM3

    UniProtKB/Swiss-Prot: TTC31_HUMAN, Q49AM3
    Similarity: Contains 3 TPR repeats


    Find genes that share domains with TTC31           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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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with TTC31           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for TTC31:
     Big cells 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for TTC31

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate TTC31 (see all 19):
    hsa-miR-194* hsa-let-7d hsa-miR-202 hsa-let-7c hsa-miR-373* hsa-miR-105 hsa-let-7g hsa-let-7a
    SwitchGear 3'UTR luciferase reporter plasmidTTC31 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TTC31

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    GenScript: all cDNA clones in your preferred vector: TTC31 (NM_022492)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TTC31

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC31


    (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 COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2
    mitochondrion1

    (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 TTC31
    Interactions:

        Search GeneGlobe Interaction Network for TTC31

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TTC31 (ENSP000002336234) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CLPBENSP000002940534STRING: ENSP00000294053
    ERCC3ENSP000002853984STRING: ENSP00000285398
    TTKENSP000002305104STRING: ENSP00000230510
    DNAJA1ENSP000003691274STRING: ENSP00000369127
    DNAJA2ENSP000003140304STRING: ENSP00000314030
    About this table

    (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 TTC31



    (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 TTC31 gene: 
    NM_022492.4  

    Unigene Cluster for TTC31:

    Tetratricopeptide repeat domain 31
    Hs.557709  [show with all ESTs]
    Unigene Representative Sequence: NM_022492
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000489152(uc002slt.2 uc002slu.2) ENST00000424122 ENST00000449459
    ENST00000464241 ENST00000410003 ENST00000463704 ENST00000491252(uc002sls.2)
    ENST00000233623 ENST00000459957 ENST00000463189 ENST00000487623 ENST00000414247
    ENST00000442235
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate TTC31 (see all 19):
    hsa-miR-194* hsa-let-7d hsa-miR-202 hsa-let-7c hsa-miR-373* hsa-miR-105 hsa-let-7g hsa-let-7a
    SwitchGear 3'UTR luciferase reporter plasmidTTC31 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TTC31
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    GenScript: all cDNA clones in your preferred vector: TTC31 (NM_022492)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TTC31
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TTC31
    Primer
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    OriGene qPCR primer pairs and template standards for TTC31
    OriGene qSTAR qPCR primer pairs in human, mouse for TTC31
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat TTC31
      QuantiTect SYBR Green Assays in human, mouse, rat TTC31
      QuantiFast Probe-based Assays in human, mouse, rat TTC31

    Additional mRNA sequence: 

    AK022850.1 AK026819.1 AK090520.1 AK223355.1 AK225626.1 AK301585.1 AK303105.1 AK303245.1 
    BC036017.1 BC045536.1 BC096709.1 BC098114.1 BC098365.1 BC099729.1 NR_027749.1 

    11 DOTS entries:

    DT.95077948  DT.101983865  DT.445571  DT.101983866  DT.100798752  DT.100798738  DT.100775509  DT.92011988 
    DT.100798745  DT.91879655  DT.100798737 

    Selected AceView cDNA sequences (see all 169):

    AI536706 AA629217 BQ073616 BM918166 BC060805 BX648131 AI138636 BQ003221 
    BF940004 BX341363 CA396640 AA630282 AI078354 CA503254 BU752383 BC045536 
    AA256496 BU682547 CR598803 AA255628 AU150208 AI792390 BU632943 AI800724 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TTC31 (see all 16)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b · 13c · 13d ^
    SP1:                                -           -                                                                 -                       -                     
    SP2:                                -           -                                                                                         -                     
    SP3:                                -           -                                                                 -                                             
    SP4:                                -           -                                                                 -                                             
    SP5:                                                                                                              -                                             

    ExUns: 14a · 14b · 14c · 14d · 14e
    SP1:                              
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for TTC31

    (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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    TTC31 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TTC31 Expression
    About this image

    TTC31 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TTC31 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.557709
        Custom PCR Arrays for TTC31
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC31

    (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 and fungi.

    Orthologs for TTC31 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia TTC311 tetratricopeptide repeat domain 31 82(n)
    77.71(a)
      475786  XM_005630532.1  XP_005630589.1 
    chicken
    (Gallus gallus)
    Aves TTC316
    tetratricopeptide repeat domain 31
    21(a)
    1 ↔ 1
    AADN03014618.1(21-4165)
    lizard
    (Anolis carolinensis)
    Reptilia TTC316
    tetratricopeptide repeat domain 31
    39(a)
    1 ↔ 1
    AAWZ02036549(10576-21960)
    zebrafish
    (Danio rerio)
    Actinopterygii TTC316
    tetratricopeptide repeat domain 31
    19(a)
    1 ↔ 1
    13(8705276-8733046) ENSDARG00000057890
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes STI16
    Hsp90 cochaperone, interacts with the Ssa group of...
    10(a)
    1 → many
    XV(381053-382822) YOR027W


    ENSEMBL Gene Tree for TTC31 (if available)
    TreeFam Gene Tree for TTC31 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TTC31 gene
    STIP12  
    1 SIMAP similar gene for TTC31 using alignment to 5 protein entries:     TTC31_HUMAN (see all proteins):
    FLJ12788

    Find genes that share paralogs with TTC31           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 TTC31 (see all 235)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1507842021,2
    --74712445(+) CATGCC/TGGCCA 2 -- int10--------
    rs1864646441,2
    --74712468(+) TCTAAA/GTGTCT 2 -- int10--------
    rs349485021,2
    C--74712597(+) ATTTC-/TTTTTT 2 -- int11Minor allele frequency- T:0.00NA 2
    rs1447318641,2
    C--74712691(+) TTCCCA/GGGTTC 2 -- int10--------
    rs1909097561,2
    --74712734(+) CTGGGA/GCTACA 2 -- int10--------
    rs1807939951,2
    --74712818(+) GGTCTC/TGATCT 2 -- int10--------
    rs1858277441,2
    C--74712839(+) TGATCC/TGCCCA 2 -- int10--------
    rs1474456151,2
    --74712899(+) GCCCAA/GTTTTG 2 -- int10--------
    rs1159405921,2
    C,F--74713031(+) TGGCCG/ATCTCA 2 -- int11Minor allele frequency- A:0.02WA 118
    rs353550351,2
    C--74713415(+) CACTCA/CCTGTG 2 -- int11Minor allele frequency- C:0.00NA 2

    HapMap Linkage Disequilibrium report for TTC31 (74710200 - 74722013 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for TTC31:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv458185CNV Loss19166990
    nsv515851CNV Loss19592680
    dgv4166n71CNV Loss21882294
    dgv1199e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing TTC31
    DNA2.0 Custom Variant and Variant Library Synthesis for TTC31

    (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.)
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      --

    (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)
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    PubMed articles for TTC31 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with TTC31)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    4. [Novel bidirectional promoter from human genome]. (PubMed id 21790010)1 Orekhova A.S....Rubtsov P.M. (Mol. Biol. (Mosk.) 2011)
    5. A germline-specific class of small RNAs binds mammalian Piwi proteins. (PubMed id 16751776)1 Girard A....Carmell M.A. (Nature 2006)
    6. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    7. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)1 Maruyama K. and Sugano S. (Gene 1994)

    (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)
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    Entrez Gene: 64427 HGNC: 25759 AceView: FLJ12788 Ensembl:ENSG00000115282 euGenes: HUgn64427
    ECgene: TTC31 H-InvDB: TTC31

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for TTC31 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TTC31 gene:
    Search GeneIP for patents involving TTC31

    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
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

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