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

TCHHL1 Gene

protein-coding   GIFtS: 42
GCID: GC01M152056

Trichohyalin-Like 1

(Previous name: S100 calcium binding protein A17)
(Previous symbols: S100A17, THHL1)
  Search for TCHHL1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Trichohyalin-Like 11 2     basalin2
S100A171 2 3     Intermediate Filament-Associated Protein2
THHL11 2 3     Trichohyalin-Like Protein 12
S100 Calcium Binding Protein A171 2     Basalin3
S100 Calcium-Binding Protein A172 3     Protein S100-A173

External Ids:    HGNC: 317961   Entrez Gene: 1266372   Ensembl: ENSG000001828987   UniProtKB: Q5QJ383   

Export aliases for TCHHL1 gene to outside databases

Previous GC identifers: GC01M148858 GC01M150323 GC01M123434


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

Entrez Gene summary for TCHHL1 Gene:
This gene belongs to the S100 fused-type protein (SFTP) gene family, and is located in a cluster of SFTP genes on
chromosome 1q21. Several members of this family have been implicated in the development of complex skin
disorders. This gene is evolutionarily conserved; its expression appears to be hair-specific and spatially
restricted within the distal inner root sheath of the hair follicle. It thus may have an important role in hair
morphogenesis. (provided by RefSeq, Aug 2013)

GeneCards Summary for TCHHL1 Gene: 
TCHHL1 (trichohyalin-like 1) is a protein-coding gene. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is RPTN.




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TCHHL1 gene promoter:
         MEF-2A   AREB6   Nkx3-1 v4   HSF1short   HSF1 (long)   aMEF-2   Ik-1   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTCHHL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for TCHHL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TCHHL1


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

Entrez Gene cytogenetic band: 1q21.3   Ensembl cytogenetic band:  1q21.3   HGNC cytogenetic band: 1q21.3

TCHHL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TCHHL1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M152056:  view genomic region     (about GC identifiers)

Start:
152,056,620 bp from pter      End:
152,061,540 bp from pter
Size:
4,921 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
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About This Section

UniProtKB/Swiss-Prot: TCHL1_HUMAN, Q5QJ38 (See protein sequence)
Recommended Name: Trichohyalin-like protein 1  
Size: 904 amino acids; 99275 Da
Sequence caution: Sequence=CAH72897.1; Type=Erroneous gene model prediction;
Secondary accessions: B2RPK8 Q5VTJ9

Explore the universe of human proteins at neXtProt for TCHHL1: NX_Q5QJ38

Explore proteomics data for TCHHL1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5QJ38

  • TCHHL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TCHHL1 Protein Expression
    REFSEQ proteins: NP_001008536.1  
    ENSEMBL proteins: 
     ENSP00000357796  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    S100: S100 calcium binding proteins

    2 InterPro protein domains:
     IPR011992 EF-hand-like_dom
     IPR013787 S100_Ca-bd_sub

    Graphical View of Domain Structure for InterPro Entry Q5QJ38

    ProtoNet protein and cluster: Q5QJ38

    1 Blocks protein domain: IPB001751 Calcium-binding protein

    UniProtKB/Swiss-Prot: TCHL1_HUMAN, Q5QJ38
    Similarity: Belongs to the S-100 family
    Similarity: Contains 1 EF-hand domain


    TCHHL1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
         
    TCHHL1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TCHHL1:
     Synthetic lethal with Ras 

    Animal Models:
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TCHHL1

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 TCHHL1 (TCHL1)

    Search CenterWatch for drugs/clinical trials and news about TCHHL1 / TCHL1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for TCHHL1 gene: 
    NM_001008536.1  

    Unigene Cluster for TCHHL1:

    Trichohyalin-like 1
    Hs.546477
    Unigene Representative Sequence: AY456639
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000368806(uc001ezo.1)
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    Additional mRNA sequence: 

    AY456639.1 BC137493.1 

    1 DOTS entry:

    DT.121374727 

    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™, 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

    TCHHL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATTCATTCT
    TCHHL1 Expression
    About this image


    See TCHHL1 Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.546477
        SABiosciences Custom PCR Arrays for TCHHL1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCHHL1

    (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 chordates.

    Orthologs for TCHHL1 gene from 3/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tchhl11 , 5 trichohyalin-like 11, 5 71.05(n)1
    51.12(a)1
      3 (40.51 cM)5
    713251  NM_027762.31  NP_082038.21 
     934687545 
    chicken
    (Gallus gallus)
    Aves CRNN6
    cornulin
    18(a)
    1 → many
    25(1132880-1134156)
    lizard
    (Anolis carolinensis)
    Reptilia TCHHL16
    Uncharacterized protein
    7(a)
    1 → many
    GL343369.1(7-2795)


    ENSEMBL Gene Tree for TCHHL1 (if available)
    TreeFam Gene Tree for TCHHL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TCHHL1 gene
    RPTN2  FLG22  TCHH2  HRNR2  CRNN2  FLG2  
    1 SIMAP similar gene for TCHHL1 using alignment to 2 protein entries:     TCHL1_HUMAN (see all proteins):
    FLG

    TCHHL1 for paralogs           About GeneDecksing



    (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) 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

    10/190 SNPs in TCHHL1 are shown (see all 190)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs802470381,2
    C,F--152056305(+) AGCTGA/CAAATA 1 -- ds50011Minor allele frequency- C:0.05NA 120
    rs75490071,2
    C,F,H--152056368(+) TGAAGT/CGGAAG 1 -- ds50019Minor allele frequency- C:0.01NS EA NA 922
    rs1492738761,2
    C--152056407(+) TGGGAA/G/TATGGA 1 -- ds50010--------
    rs412660821,2
    C--152056551(+) TTTTCA/C/GTTTTT 1 -- ds50010--------
    rs41472081,2
    C,F,H--152056600(+) AAAAAT/Cgaccc 1 -- ds50016Minor allele frequency- C:0.03NS EA 750
    rs1925586811,2
    --152056981(+) ATAAAA/GTTTTA 1 -- ut310--------
    rs726969251,2
    C,F--152057002(+) GAAATA/GCTTCT 1 -- ut311Minor allele frequency- G:0.11NA 120
    rs792727841,2
    C--152057023(+) ATGAAA/GCAGAG 1 -- ut310--------
    rs1471365451,2
    --152057142(+) CACCTA/GCTAAA 1 -- ut310--------
    rs1858163271,2
    --152057384(+) GTGTAC/TACGTG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for TCHHL1 (152056620 - 152061540 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TCHHL1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv2866CNV Insertion18451855
    nsv872442CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TCHHL1 for disorders           About MalaCards
    1 disease from the University of Copenhagen DISEASES database for TCHHL1:
    Lichen planus

    TCHHL1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): TCHHL1

    Export disorders for TCHHL1 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 TCHHL1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TCHHL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Web-based, participant-driven studies yield novel gen etic associations for common traits. (PubMed id 20585627)1, 4 Eriksson N....Mountain J. (2010)
    2. Trichohyalin-like 1 protein, a member of fused S100 pr oteins, is expressed in normal and pathologic human skin. (PubMed id 23376073)1 Yamakoshi T....Shimizu T. (2013)
    3. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    4. Identification of trichohyalin-like 1, an s100 fused- type protein selectively expressed in hair follicles. (PubMed id 21614011)1 Wu Z....SchrAPder J.M. (2011)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    6. 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. (2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    8. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    (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: 126637 HGNC: 31796 Ensembl:ENSG00000182898 euGenes: HUgn126637 ECgene: TCHHL1
    H-InvDB: TCHHL1

    (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 TCHHL1 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 TCHHL1 gene:
    Search GeneIP for patents involving TCHHL1

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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     Proteins for TCHHL1
     Antibodies for TCHHL1
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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