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

TCHH Gene

protein-coding   GIFtS: 47
GCID: GC01M152078

trichohyalin


(Previous symbol: THH)
 Explore 18 diseases affiliated with
TCHH via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TCHH    

Aliases
for TCHH gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Trichohyalin1
THH1 2 3 5
THL2 3 5
TRHY2 3 5

External Ids:    HGNC: 117911   Entrez Gene: 70622   Ensembl: ENSG000001594507   OMIM: 1903705   UniProtKB: Q072833   

Export aliases for TCHH gene to outside databases

Previous GC identifers: GC01U901218 GC01M150345 GC01M123456


Summaries
for TCHH gene

(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 TCHH:
Trichohyalin confers mechanical strength to the hair follicle inner root sheath and to other toughened epithelial
tissues, such as the hard palate and filiform ridges of the tongue, by forming multiple complex crosslinks with itself
and with other structural proteins (Steinert et al., 2003 (PubMed 12853460)).(supplied by OMIM, Dec 2009)

UniProtKB/Swiss-Prot: TRHY_HUMAN, Q07283
Function: Intermediate filament-associated protein that associates in regular arrays with keratin intermediate
filaments (KIF) of the inner root sheath cells of the hair follicle and the granular layer of the epidermis. It later
becomes cross-linked to KIF by isodipeptide bonds. It may serve as scaffold protein, together with involucrin, in the
organization of the cell envelope or even anchor the cell envelope to the KIF network. It may be involved in its own
calcium-dependent postsynthetic processing during terminal differentiation




Genomic Views
for TCHH gene

(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_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TCHH gene promoter:
         SRF   SRF (504 AA)   NCX/Ncx   STAT5A   Nkx2-5   C/EBPalpha   HFH-1   Chx10   LyF-1   ATF6   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for TCHH

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


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-q23

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M152078:  view genomic region     (about GC identifiers)

Start:
 152,078,793 bp from pter      End:
 152,086,556 bp from pter
Size:
 7,764 bases      Orientation:
 minus strand

Proteins
for TCHH gene

(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: TRHY_HUMAN, Q07283 (See protein sequence)
Recommended Name: Trichohyalin  
Size: 1943 amino acids; 253925 Da
Subunit: Monomer (Probable)
Developmental stage: Expressed during late differentiation of the epidermis
Sequence caution: Sequence=AAA65582.1; Type=Erroneous gene model prediction;
Secondary accessions: Q5VUI3

Explore the universe of human proteins at neXtProt for TCHH: NX_Q07283

Post-translational modifications:

  • Substrate of transglutaminase. Some 200 arginines are probably converted to citrullines by peptidylarginine deimidase1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q07283

    • TCHH Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_009044.2  
    ENSEMBL proteins: 
     ENSP00000357794  

    Human Recombinant Protein Products: 
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    Uscn Proteins for TCHH

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome IDA--
    GO:0005856cytoskeleton NAS7686953
    GO:0005886plasma membrane IDA--
    GO:0045111intermediate filament cytoskeleton IDA--


    TCHH for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for TCHH

    Protein Domains /
    Families
    for TCHH gene

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

    5 InterPro domains/families:
     IPR018247 EF_Hand_1_Ca_BS
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_Ca-bd
     IPR013787 S100_Ca-bd_sub
     IPR001751 S100/CaBP-9k_CS

    Graphical View of Domain Structure for InterPro Entry Q07283

    ProtoNet protein and cluster: Q07283

    1 Blocks protein family: IPB001751 Calcium-binding protein

    UniProtKB/Swiss-Prot: TRHY_HUMAN, Q07283
    Domain: Consists of nine domains. Domain 1 contains two EF-hand calcium-binding domains. Domains 2-4, 6, and 8 are
    almost entirely alpha-helical, configured as a series of peptide repeats of varying regularity, and are thought to
    form a single-stranded alpha-helical rod stabilized by ionic interactions. Domain 6 is the most regular and may bind
    KIF directly by ionic interactions. Domains 5 and 7 are less well organized and may induce folds in the molecule.
    Domain 9 contains the C-terminus, conserved among different species
    Similarity: Belongs to the S100-fused protein family
    Similarity: Contains 2 EF-hand domains


    Function
    for TCHH gene

    (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: TRHY_HUMAN, Q07283
    Function: Intermediate filament-associated protein that associates in regular arrays with keratin intermediate
    filaments (KIF) of the inner root sheath cells of the hair follicle and the granular layer of the epidermis. It later
    becomes cross-linked to KIF by isodipeptide bonds. It may serve as scaffold protein, together with involucrin, in the
    organization of the cell envelope or even anchor the cell envelope to the KIF network. It may be involved in its own
    calcium-dependent postsynthetic processing during terminal differentiation

    miRNA
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    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate TCHH (see all 11):
    hsa-miR-4265 hsa-miR-3065-5p hsa-miR-944 hsa-miR-3133 hsa-miR-1305 hsa-miR-211 hsa-miR-188-3p hsa-miR-204
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    Gene Editing
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    Clone
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    In Situ Assay
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    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 TAS7685034


    TCHH for ontologies           About GeneDecksing



    Pathways & Interactions
    for TCHH gene

    (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



    Interactions:

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

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for TCHH (Q072833 ENSP000003577944) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EFHD1Q9BUP03, ENSP000002640594I2D: score=1 STRING: ENSP00000264059
    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:0008150biological_process ND--
    GO:0031424keratinization IEA--


    TCHH for ontologies           About GeneDecksing



    Drugs & Compounds
    for TCHH gene

    (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

    TCHH for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for TCHH

    1 HMDB Compound for TCHH    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    3 Novoseek chemical compound relationships for TCHH gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    citrulline 54.6 1 16086740 (1)
    arginine 18 3 11069618 (1), 16086740 (1)
    calcium 0 2 8618063 (1), 9274619 (1)

    Search CenterWatch for drugs/clinical trials and news about TCHH / TRHY 

    Transcripts
    for TCHH gene

    (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 TCHH gene: 
    NM_007113.3  

    Unigene Clusters for TCHH:

    Trichohyalin
    Hs.432416  [show with all ESTs], Hs.553300
    Unigene Representative Sequences: NM_007113, AY827491
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000368804(uc001ezp.2 uc009wne.1)

    miRNA
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    hsa-miR-4265 hsa-miR-3065-5p hsa-miR-944 hsa-miR-3133 hsa-miR-1305 hsa-miR-211 hsa-miR-188-3p hsa-miR-204
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    Inhib. RNA
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TCHH
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TCHH

    Additional cDNA sequence: AY827491.1 

    6 DOTS entries:

    DT.95075237  DT.121404966  DT.121404963  DT.121404964  DT.91929314  DT.121404969 

    GeneLoc Exon Structure


    Expression
    for TCHH gene

    (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

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

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

    TCHH expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneMaxillary ProcessBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See TCHH Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TCHH

    SOURCE GeneReport for Unigene clusters: Hs.432416 Hs.553300

    UniProtKB/Swiss-Prot: TRHY_HUMAN, Q07283
    Tissue specificity: Found in the hard keratinizing tissues such as the inner root sheath (IRS) of hair follicles and
    medulla, and in the filiform papillae of dorsal tongue epithelium

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    In Situ
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    Orthologs
    for TCHH gene

    (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 eukaryotes.

    Orthologs for TCHH gene from 3/12 species (see all 12)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    fruit fly
    (Drosophila melanogaster)    		 Insecta Crtp6
    		 Caldesmon-related protein
    		 9(a)
    		 1 ↔ 1
    		 2R(20382041-20384550)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT1G767801 HSP20-like chaperone 37.29(n)
    22.02(a)    		   844012  NM_106328.1  NP_177804.1 
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    		 expressed protein
    		 8(a)
    8(a)
    		 possible ortholog
    possible ortholog
    		 2(29376507-29382690)
    1(32326654-32331733)


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

    Paralogs
    for TCHH gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TCHH gene
    NEXN2  EIF3A2  CALD12  
    8 SIMAP similar genes for TCHH using alignment to 3 protein entries:     TRHY_HUMAN (see all proteins):
    S100A11    S100B    S100P    S100A10    S100Z    S100A12
    S100A8    S100A4

    TCHH for paralogs           About GeneDecksing



    Genomic Variants
    for TCHH gene

    (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

    10/257 NCBI SNPs in TCHH are shown (see all 257)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1425747251,2
    		--152078503(+) ATGACC/TAGTGA 1 -- ds50010--------
    rs2020668071,2
    		--152078669(+) CTCCC-/CTCTTTT 1 -- ds50010--------
    rs1509651461,2
    		--152078722(+) GATTGC/GGAACT 1 -- ds50010--------
    rs1143511281,2
    		F,--152078882(+) AATGAT/CTGTGG 1 -- ut311Minor allele frequency- C:0.02WA 118
    rs1882689231,2
    		--152078918(+) CTAGAA/GATTTG 1 -- ut310--------
    rs1915813131,2
    		--152078999(+) GTAAGA/GCAGAT 1 -- ut310--------
    rs1395078251,2
    		--152079077(+) ACTCAA/TCAAAA 1 -- ut310--------
    rs790905681,2
    		C--152079233(+) AATCT-/AGATCAAA 1 -- ut310--------
    rs90501,2
    		C,F,O,H,--152079314(-) NNNNGG/TAGTGA 1 -- ut31 ese316Minor allele frequency- T:0.04MN EA NS NA 1976
    rs120733641,2
    		--152079322(+) CCTGCA/CCTATT 1 -- ut31 ese31Minor allele frequency- C:0.01WA 118

    HapMap Linkage Disequilibrium report for TCHH (152078793 - 152086556 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 15 variations for TCHH
         8 CNVs: 84564 1557 74706 84566 74707 74710 84568 84565
         7 Indels: 23972 84569 74709 74708 84570 84567 42729

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    Disorders / Diseases
    for TCHH gene

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

    OMIM gene information: 190370    OMIM disorders: --

    18 diseases for TCHH:    About MalaCards
    brown-sequard syndrome    anterior spinal artery syndrome    tabes dorsalis    down syndrome critical region
    epidermolytic hyperkeratosis    alopecia areata    pilomatrixoma    monilethrix
    reticulosarcoma    down syndrome    basal cell carcinoma    alopecia
    skin disease    keratoderma    keratosis    papilloma
    carcinoma    malaria

    3 diseases from the University of Copenhagen DISEASES database for TCHH:
    Brown-Sequard syndrome     Pilomatrixoma     Infertility

    6 Novoseek disease relationships for TCHH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pilomatricoma 66 3 10228630 (2), 8734653 (1)
    carcinoma basal cell 44.7 1 10228630 (1)
    epidermoid cyst 42.9 1 8453573 (1)
    skin diseases 31.4 3 10439242 (1), 7532602 (1), 10228630 (1)
    carcinoma squamous cell 0 1 10228630 (1)
    tumors 0 2 10072881 (1), 8453573 (1)

    Human Genome Epidemiology (HuGE) Navigator: TCHH (2 documents)

    Export disorders for TCHH gene to outside databases

    Publications
    for TCHH gene

    (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 TCHH gene, integrated from 9 sources (see all 69):
    (articles sorted by number of sources associating them with TCHH)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The structure of human trichohyalin. Potential multiple roles as a functional EF-hand-like calcium-binding protein, a cornified cell envelope precursor, and an intermediate filament-associated (cross- linking) protein. (PubMed id 7685034)1, 2, 9 Lee S.-C....Steinert P.M. (1993)
    2. Trichohyalin: a structural protein of hair, tongue, nail, and epidermis. (PubMed id 7686953)1, 2, 9 O'Keefe E.J.... Steinert P.M. (1993)
    3. Mapping of the trichohyalin gene: co-localization with the profilaggrin, involucrin, and loricrin genes. (PubMed id 1431214)1, 3 Fietz M.J....Sutherland G.R. (1992)
    4. Molecular elements of the regulatory control of keratin filament modulator AHF/trichohyalin in the hair follicle. (PubMed id 18643848)1, 9 Yamamoto S....Hirai Y. (2009)
    5. Common variants in the trichohyalin gene are associat ed with straight hair in Europeans. (PubMed id 19896111)1, 9 Medland S.E....Martin N.G. (2009)
    6. Human trichohyalin gene is clustered with the genes for other epidermal structural proteins and calcium-binding proteins at chromosomal locus 1q21. (PubMed id 8423399)1, 9 Lee S.C....Steinert P.M. (1993)
    7. Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. (PubMed id 21248752)2 Varela I....Futreal P.A. (2011)
    8. Web-based, participant-driven studies yield novel gen etic associations for common traits. (PubMed id 20585627)1 Eriksson N....Mountain J. (2010)
    9. Trichohyalin is a potential major autoantigen in huma n alopecia areata. (PubMed id 20722389)1 Leung M.C....Tobin D.J. (2010)
    10. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)

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    Genome Databases showing TCHH gene

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    Entrez Gene: 7062 HGNC: 11791 Ensembl:ENSG00000159450 euGenes: HUgn7062 ECgene: TCHH
    H-InvDB: TCHH

    Other Databases showing TCHH gene

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    Specialized Databases showing TCHH gene

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    PharmGKB entry for TCHH Pharmacogenomics, SNPs, Pathways

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