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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 RPTN.

No data available for 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around TCHHL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TCHHL1 Gene

Chromosome:
1
Start:
152,084,144 bp from pter
End:
152,089,064 bp from pter
Size:
4,921 bases
Orientation:
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:
    Q5QJ38-TCHL1_HUMAN
    Recommended name:
    Trichohyalin-like protein 1
    Protein Accession:
    Q5QJ38
    Secondary Accessions:
    • B2RPK8
    • Q5VTJ9

    Protein attributes for TCHHL1 Gene

    Size:
    904 amino acids
    Molecular mass:
    99275 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

Q5QJ38

UniProtKB/Swiss-Prot:

TCHL1_HUMAN :
  • Contains 1 EF-hand domain.
  • Belongs to the S-100 family.
Domain:
  • Contains 1 EF-hand domain.
Family:
  • Belongs to the S-100 family.
genes like me logo Genes that share domains with TCHHL1: view

Function for TCHHL1 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Localization for TCHHL1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TCHHL1 Gene COMPARTMENTS Subcellular localization image for TCHHL1 gene
Compartment Confidence
cytosol 3
nucleus 2

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)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000357796%0d%0a9606.ENSP00000378307%0d%0a
Selected Interacting proteins: ENSP00000357796 Q5QJ38-TCHL1_HUMAN for TCHHL1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for TCHHL1 Gene

None

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

Flow Cytometry Products

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

No ASD Table

Relevant External Links for TCHHL1 Gene

GeneLoc Exon Structure for
TCHHL1
ECgene alternative splicing isoforms for
TCHHL1

Expression for TCHHL1 Gene

mRNA expression in normal human tissues 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:

TCHHL1

SOURCE GeneReport for Unigene cluster for TCHHL1 Gene:

Hs.546477
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 and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia TCHHL1 34
  • 76.48 (n)
  • 59.21 (a)
TCHHL1 35
  • 53 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TCHHL1 34
  • 76.99 (n)
  • 59.62 (a)
TCHHL1 35
  • 52 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tchhl1 34
  • 71.11 (n)
  • 52.01 (a)
Tchhl1 16
Tchhl1 35
  • 43 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TCHHL1 34
  • 99.19 (n)
  • 98.34 (a)
TCHHL1 35
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TCHHL1 35
  • 25 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRNN 35
  • 18 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 13 (a)
OneToMany
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

ENSEMBL:
Gene Tree for TCHHL1 (if available)
TreeFam:
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
rs16833835 - 152,087,104(+) CTTGA(C/G)CCACT reference, missense
rs1496037 -- 152,090,274(+) acact(A/G)tgcca upstream-variant-2KB
rs4147208 -- 152,084,124(+) AAAAA(C/T)gaccc downstream-variant-500B
rs2935207 -- 152,088,320(+) TTAGT(A/T)TTGTA intron-variant
rs7549007 -- 152,083,892(+) TGAAG(C/T)GGAAG downstream-variant-500B

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)
TCHHL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TCHHL1

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: DISEASES

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

Relevant External Links for TCHHL1

Genetic Association Database (GAD)
TCHHL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TCHHL1
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 Genet. 2010) 3 46 65
  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. (Biochem. Biophys. Res. Commun. 2013) 3 65
  3. A census of human soluble protein complexes. (PMID: 22939629) Havugimana P.C. … Emili A. (Cell 2012) 3 65
  4. Identification of trichohyalin-like 1, an s100 fused-type protein selectively expressed in hair follicles. (PMID: 21614011) Wu Z. … SchrAPder J.M. (J. Invest. Dermatol. 2011) 3 65
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 4 65

Products for TCHHL1 Gene

Sources for TCHHL1 Gene

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