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Aliases for TCHHL1 Gene

Aliases for TCHHL1 Gene

  • Trichohyalin Like 1 2 3 5
  • S100 Calcium-Binding Protein A17 3 4
  • Basalin 3 4
  • S100A17 3 4
  • THHL1 3 4
  • Intermediate Filament-Associated Protein 3
  • S100 Calcium Binding Protein A17 2
  • Trichohyalin-Like Protein 1 3
  • Trichohyalin-Like 1 2
  • Protein S100-A17 4

External Ids for TCHHL1 Gene

Previous HGNC Symbols for TCHHL1 Gene

  • S100A17
  • THHL1

Previous GeneCards Identifiers for TCHHL1 Gene

  • GC01M148858
  • GC01M150323
  • GC01M123434

Summaries for TCHHL1 Gene

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. Diseases associated with TCHHL1 include Lichen Disease. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is TCHH.

Additional gene information for TCHHL1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TCHHL1 Gene

Genomics for TCHHL1 Gene

Regulatory Elements for TCHHL1 Gene

Enhancers for TCHHL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H152143 0.3 FANTOM5 10.3 -54.7 -54743 0 HRNR ENSG00000226716 TCHH PUDPP2 S100A11 TCHHL1 ENSG00000229021 LCE3A RPTN
GH01H151823 0.5 FANTOM5 dbSUPER 2.1 +265.7 265737 0 SNX27 RORC TCHHL1 GC01P151821
GH01H152107 1.3 Ensembl ENCODE 0.3 -21.1 -21149 5 HDGF SIN3A FEZF1 ZNF2 ZBTB7B ZNF121 ZNF207 ZNF548 SP3 REST PI4KB PIP5K1A POGZ MRPL9 HRNR LYSMD1 ZNF687 ENSG00000229021 RN7SL444P TCHH
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TCHHL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TCHHL1 Gene

152,084,144 bp from pter
152,089,064 bp from pter
4,921 bases
Minus strand

Genomic View for TCHHL1 Gene

Genes around TCHHL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TCHHL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TCHHL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TCHHL1 Gene

Proteins for TCHHL1 Gene

  • Protein details for TCHHL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Trichohyalin-like protein 1
    Protein Accession:
    Secondary Accessions:
    • B2RPK8
    • Q5VTJ9

    Protein attributes for TCHHL1 Gene

    904 amino acids
    Molecular mass:
    99275 Da
    Quaternary structure:
    No Data Available
    • Sequence=CAH72897.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for TCHHL1 Gene

Post-translational modifications for TCHHL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TCHHL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TCHHL1 Gene

Domains & Families for TCHHL1 Gene

Gene Families for TCHHL1 Gene

Protein Domains for TCHHL1 Gene

Suggested Antigen Peptide Sequences for TCHHL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the S-100 family.
  • Belongs to the S-100 family.
genes like me logo Genes that share domains with TCHHL1: view

Function for TCHHL1 Gene

Phenotypes From GWAS Catalog for TCHHL1 Gene

Gene Ontology (GO) - Molecular Function for TCHHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046914 transition metal ion binding IEA --
genes like me logo Genes that share ontologies with TCHHL1: view
genes like me logo Genes that share phenotypes with TCHHL1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TCHHL1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TCHHL1 Gene

Localization for TCHHL1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TCHHL1 gene
Compartment Confidence
cytosol 3
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (2)
  • Nucleoli (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for TCHHL1 Gene

Pathways & Interactions for TCHHL1 Gene

SuperPathways for TCHHL1 Gene

No Data Available

Interacting Proteins for TCHHL1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: ENSP00000357796 Q5QJ38-TCHL1_HUMAN for TCHHL1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for TCHHL1 Gene


No data available for Pathways by source and SIGNOR curated interactions for TCHHL1 Gene

Drugs & Compounds for TCHHL1 Gene

No Compound Related Data Available

Transcripts for TCHHL1 Gene

mRNA/cDNA for TCHHL1 Gene

(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TCHHL1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for TCHHL1 Gene

No ASD Table

Relevant External Links for TCHHL1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TCHHL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TCHHL1 Gene

mRNA differential expression in normal tissues according to GTEx for TCHHL1 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x48.1).

Protein differential expression in normal tissues from HIPED for TCHHL1 Gene

This gene is overexpressed in Hair follicle (68.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TCHHL1 Gene

Protein tissue co-expression partners for TCHHL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of TCHHL1 Gene:


SOURCE GeneReport for Unigene cluster for TCHHL1 Gene:


Evidence on tissue expression from TISSUES for TCHHL1 Gene

  • Skin(4.1)
genes like me logo Genes that share expression patterns with TCHHL1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TCHHL1 Gene

Orthologs for TCHHL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TCHHL1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TCHHL1 33 34
  • 99.19 (n)
(Canis familiaris)
Mammalia TCHHL1 33 34
  • 76.99 (n)
(Bos Taurus)
Mammalia TCHHL1 33 34
  • 76.48 (n)
(Mus musculus)
Mammalia Tchhl1 33 16 34
  • 71.11 (n)
(Monodelphis domestica)
Mammalia TCHHL1 34
  • 25 (a)
(Gallus gallus)
Aves CRNN 34
  • 18 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 13 (a)
Species where no ortholog for TCHHL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for TCHHL1 Gene

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

Paralogs for TCHHL1 Gene

Paralogs for TCHHL1 Gene

(1) SIMAP similar genes for TCHHL1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with TCHHL1: view

Variants for TCHHL1 Gene

Sequence variations from dbSNP and Humsavar for TCHHL1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000788166 -- 152,089,580(+) CAGAG(G/T)CAGAG upstream-variant-2KB
rs1000828334 -- 152,087,027(+) ACTGC(C/T)GGTCT reference, missense
rs1000971107 -- 152,089,352(+) TTTTA(A/G)CCTAA upstream-variant-2KB
rs1001676764 -- 152,090,551(+) TAACA(G/T)ATAAG upstream-variant-2KB
rs1001796306 -- 152,090,476(+) ACTTA(C/T)GACAT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for TCHHL1 Gene

Variant ID Type Subtype PubMed ID
nsv1007097 CNV gain 25217958
nsv2866 CNV insertion 18451855
nsv547853 CNV gain 21841781

Variation tolerance for TCHHL1 Gene

Residual Variation Intolerance Score: 67.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.68; 72.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TCHHL1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TCHHL1 Gene

Disorders for TCHHL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TCHHL1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
lichen disease
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TCHHL1

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with TCHHL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TCHHL1 Gene

Publications for TCHHL1 Gene

  1. Web-based, participant-driven studies yield novel genetic associations for common traits. (PMID: 20585627) Eriksson N … Mountain J (PLoS genetics 2010) 3 45 60
  2. Trichohyalin-like 1 protein, a member of fused S100 proteins, is expressed in normal and pathologic human skin. (PMID: 23376073) Yamakoshi T … Shimizu T (Biochemical and biophysical research communications 2013) 3 60
  3. A census of human soluble protein complexes. (PMID: 22939629) Havugimana PC … Emili A (Cell 2012) 3 60
  4. Identification of trichohyalin-like 1, an s100 fused-type protein selectively expressed in hair follicles. (PMID: 21614011) Wu Z … Schröder JM (The Journal of investigative dermatology 2011) 3 60
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4 60

Products for TCHHL1 Gene

Sources for TCHHL1 Gene

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