• Gene id: 126637

Gene Summary

• Gene Symbol: TCHHL1   Gene   UCSC   Ensembl
• Aliases: S100A17, THHL1
• Gene name: trichohyalin like 1
• Alternate names: trichohyalin-like protein 1, S100 calcium-binding protein A17, basalin, intermediate filament-associated protein,
• Gene location: 1q21.3 (68233017: 68098458)     Exons: 14     NC_000001.11
• Gene summary(Entrez): 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 evolutionaril

Protein Summary

• Protein general information: Q5QJ38  
  • Name: Trichohyalin like protein 1 (Basalin) (Protein S100 A17) (S100 calcium binding protein A17)
  • Length: 904  
  • Mass: 99275
• Sequence:

  MPQLLRNVLCVIETFHKYASEDSNGATLTGRELKQLIQGEFGDFFQPCVLHAVEKNSNLLNIDSNGIISFDEFVL
  AIFNLLNLCYLDIKSLLSSELRQVTKPEKEKLDDVDVQATTGDGQWTVGTSPTQEKRMLPSGMASSSQLIPEESG
  AVGNNRVDPWREAKTHNFPGEASEHNDPKNKHLEGDEQSQEVAQDIQTTEDNEGQLKTNKPMAGSKKTSSPTERK
  GQDKEISQEGDEPAREQSVSKIRDQFGEQEGNLATQSSPPKEATQRPCEDQEVRTEKEKHSNIQEPPLQREDEPS
  SQHADLPEQAAARSPSQTQKSTDSKDVCRMFDTQEPGKDADQTPAKTKNLGEPEDYGRTSETQEKECETKDLPVQ
  YGSRNGSETSDMRDERKERRGPEAHGTAGQKERDRKTRPLVLETQTQDGKYQELQGLSKSKDAEKGSETQYLSSE
  GGDQTHPELEGTAVSGEEAEHTKEGTAEAFVNSKNAPAAERTLGARERTQDLAPLEKQSVGENTRVTKTHDQPVE
  EEDGYQGEDPESPFTQSDEGSSETPNSLASEEGNSSSETGELPVQGDSQSQGDQHGESVQGGHNNNPDTQRQGTP
  GEKNRALEAVVPAVRGEDVQLTEDQEQPARGEHKNQGPGTKGPGAAVEPNGHPEAQESTAGDENRKSLEIEITGA
  LDEDFTDQLSLMQLPGKGDSRNELKVQGPSSKEEKGRATEAQNTLLESLDEDNSASLKIQLETKEPVTSEEEDES
  PQELAGEGGDQKSPAKKEHNSSVPWSSLEKQMQRDQEPCSVERGAVYSSPLYQYLQEKILQQTNVTQEEHQKQVQ
  IAQASGPELCSVSLTSEISDCSVFFNYSQASQPYTRGLPLDESPAGAQETPAPQALEDKQGHPQRERLVLQREAS
  TTKQ

• Structural information:
  • Protein Domains: (48..8-)
    (/note="EF-hand"-)
  • Interpro: IPR011992  IPR034325  IPR013787  IPR042937  
  • CDD: cd00213
  • STRING: ENSP00000357796
• Other Databases: GeneCards:  TCHHL1  Malacards:  TCHHL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046914	transition metal ion binding	IEA	molecular function

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)