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TTC23L Gene

protein-coding   GIFtS: 42
GCID: GC05P034841

Tetratricopeptide Repeat Domain 23-Like

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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 23-Like1 2
MC25-12
Tetratricopeptide Repeat Protein 23-Like2

External Ids:    HGNC: 263551   Entrez Gene: 1536572   Ensembl: ENSG000002058387   UniProtKB: Q6PF053   

Export aliases for TTC23L gene to outside databases

Previous GC identifers: GC05P034876 GC05P034840 GC05P034787


(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 TTC23L Gene:
TTC23L (tetratricopeptide repeat domain 23-like) is a protein-coding gene. An important paralog of this gene is TTC23.


(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_000005.9  NT_006576.17  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TTC23L gene promoter:
         GR   GATA-3   FOXF2   GR-beta   Evi-1   GATA-1   Arnt   GATA-2   FOXO4   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTTC23L promoter sequence
   Search Chromatin IP Primers for TTC23L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TTC23L


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

Entrez Gene cytogenetic band: 5p13.2   Ensembl cytogenetic band:  5p13.2   HGNC cytogenetic band: 5p13.2

TTC23L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTC23L gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P034841:  view genomic region     (about GC identifiers)

Start:
34,838,938 bp from pter      End:
34,899,567 bp from pter
Size:
60,630 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: TT23L_HUMAN, Q6PF05 (See protein sequence)
Recommended Name: Tetratricopeptide repeat protein 23-like  
Size: 361 amino acids; 40837 Da
Sequence caution: Sequence=AK097766; Type=Frameshift; Positions=52;
Secondary accessions: Q6RGS4 Q8N7R3 Q96LJ2
Alternative splicing: 3 isoforms:  Q6PF05-1   Q6PF05-2   Q6PF05-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TTC23L: NX_Q6PF05

Explore proteomics data for TTC23L at MOPED


See TTC23L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_653326.3  
ENSEMBL proteins: 
 ENSP00000422188   ENSP00000424418   ENSP00000425242  

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antibodies-online antibodies for TTC23L (13 products) 

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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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1 InterPro protein domain:
 IPR011990 TPR-like_helical

Graphical View of Domain Structure for InterPro Entry Q6PF05

ProtoNet protein and cluster: Q6PF05


Find genes that share domains with TTC23L           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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Phenotypes:
     4 GenomeRNAi human phenotypes for TTC23L:
 Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  Increased gamma-H2AX phosphory 

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for TTC23L

miRNA
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miRTarBase miRNAs that target TTC23L:
hsa-mir-335-5p (MIRT017471)

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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 COMPARTMENTS: 

CompartmentConfidence
cytosol3
nucleus2
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 TTC23L
Interactions:

    Search GeneGlobe Interaction Network for TTC23L

1 Interacting protein for TTC23L (Q6PF053) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
CALCOCO2Q131373I2D: score=1 
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 TTC23L (TT23L)



(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 TTC23L gene: 
NM_144725.3  

Unigene Cluster for TTC23L:

Tetratricopeptide repeat domain 23-like
Hs.435742  [show with all ESTs]
Unigene Representative Sequence: BC032871
7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000502782 ENST00000506758 ENST00000505624(uc003jiu.3) ENST00000508722(uc003jiv.3)
ENST00000508377 ENST00000514080 ENST00000502674(uc010iut.1)
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Additional mRNA sequence: 

AK097766.1 AK293829.1 AY498865.1 BC032871.2 JN799997.1 

7 DOTS entries:

DT.103175  DT.91644710  DT.97802724  DT.99930084  DT.120802604  DT.75110216  DT.75131413 

Selected AceView cDNA sequences (see all 31):

AA933704 BX281176 AW070430 BE671437 BU608996 BM704343 BM671547 CA450500 
BC057775 AK058168 AI912135 BI559521 BI545430 BX092783 AY498865 BP371242 
AI696215 BP369496 AA778616 BI829103 BI752413 BC032871 AW571839 BX088767 

GeneLoc Exon Structure


(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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TTC23L expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
TTC23L Expression
About this image

TTC23L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

TTC23L Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.435742
    Custom PCR Arrays for TTC23L
Primer
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC23L

(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 chordates.

Orthologs for TTC23L gene from Selected species (see all 8)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Ttc23l1 , 5 tetratricopeptide repeat domain 23-like1, 5 79.25(n)1
72.57(a)1
  15 (5.35 cM)5
757771  NM_029430.11  NP_083706.11 
 105001025 
lizard
(Anolis carolinensis)
Reptilia TTC23L6
tetratricopeptide repeat domain 23-like
28(a)
1 ↔ 1
GL343241.1(2051368-2065672)
tropical clawed frog
(Xenopus tropicalis)
Amphibia ttc23l1 tetratricopeptide repeat domain 23-like 56.61(n)
46.44(a)
  100379864  XM_004910426.1  XP_004910483.1 


ENSEMBL Gene Tree for TTC23L (if available)
TreeFam Gene Tree for TTC23L (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for TTC23L gene
TTC232  

Find genes that share paralogs with TTC23L           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 TTC23L (see all 1274)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 5 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs357972941,2
C--34783099(+) GGGGG-/G/G   
   G
/GGG
AAAGC
2 -- int1 cds11NA 2
rs1995624581,2
C--34837335(+) AACTT-/CCAAGA 1 -- us2k10--------
rs757590791,2
C--34837345(+) AGTCCT/CCAAAG 1 -- us2k13Minor allele frequency- C:0.05NA EA 242
rs1834308931,2
--34837378(+) ACCTGC/TAATCC 1 -- us2k10--------
rs77120721,2
C,F,A--34837478(+) aaaaaC/Tacaaa 1 -- us2k12Minor allele frequency- T:0.25WA CSA 4
rs1873819691,2
--34837537(+) AGGCTA/GAGGCA 1 -- us2k10--------
rs1424558761,2
--34837561(+) AACCCA/GGGAGG 1 -- us2k10--------
rs1908037201,2
--34837579(+) TGCACC/TGAGCC 1 -- us2k10--------
rs77124241,2
C,F,A,H--34837695(+) ACAGAT/CGCAGG 1 -- us2k121Minor allele frequency- C:0.17NS EA NA WA CSA 2364
rs1508925071,2
C--34837712(+) GCTTCC/TGGTCA 1 -- us2k10--------

HapMap Linkage Disequilibrium report for TTC23L (34838938 - 34899567 bp)

Structural Variations
     Database of Genomic Variants (DGV) 9 variations for TTC23L:    About this table    
Variant IDTypeSubtypePubMed ID
dgv1020e199CNV Deletion23128226
esv2664297CNV Deletion23128226
esv2730058CNV Deletion23290073
esv1002836CNV Deletion20482838
esv2235962CNV Deletion18987734
esv2730057CNV Deletion23290073
esv4902CNV Deletion18987735
nsv327644CNV Loss16902084
nsv522144CNV Loss19592680

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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.)
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Find genes that share disorders with TTC23L           About GenesLikeMe

Genetic Association Database (GAD): TTC23L
Human Genome Epidemiology (HuGE) Navigator: TTC23L (1 document)

Export disorders for TTC23L 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)
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PubMed articles for TTC23L gene integrated from 10 sources:
(articles sorted by number of sources associating them with TTC23L)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
  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. Genome-scale RNAi screen for host factors required for HIV replication. (PubMed id 18976975)1 Zhou H....Espeseth A.S. (amp 2008)
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
  6. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)2 Schmutz J.... Rubin E.M. (Nature 2004)
  7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)

(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: 153657 HGNC: 26355 AceView: FLJ25439 Ensembl:ENSG00000205838 euGenes: HUgn153657
ECgene: TTC23L H-InvDB: TTC23L

(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 TTC23L 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 TTC23L gene:
Search GeneIP for patents involving TTC23L

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)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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