• Gene id: 3872

Gene Summary

• Gene Symbol: KRT17   Gene   UCSC   Ensembl
• Aliases: 39.1, CK-17, K17, PC, PC2, PCHC1
• Gene name: keratin 17
• Alternate names: keratin, type I cytoskeletal 17, cytokeratin-17, keratin 17, type I,
• Gene location: 17q21.2 (41624574: 41619441)     Exons: 8     NC_000017.11
• Gene summary(Entrez): This gene encodes the type I intermediate filament chain keratin 17, expressed in nail bed, hair follicle, sebaceous glands, and other epidermal appendages. Mutations in this gene lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multip
• OMIM: 148069

SNPs

rs397515339

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000016.10   g.84170177dup
NC_000016.9   g.84203783dup
NG_021174.1   g.29919dup
NM_178452.6   c.1349dup
NM_178452.5   c.1349dup
NM_178452.4   c.1349dup
NM_001318756.1   c.641dup
XM_011522854.3   c.1397dup
XM_006721129.3   c.1349dup
XM_011522853.3   c.1397dup
XM_011522  

rs267607227

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.84154748T>C
NC_000016.10   g.84154748T>G
NC_000016.9   g.84188353T>C
NC_000016.9   g.84188353T>G
NG_021174.1   g.14489T>C
NG_021174.1   g.14489T>G
NM_178452.6   c.524T>C
NM_178452.6   c.524T>G
NM_178452.5   c.524T>C
NM_178452.5   c.524T>G
NM_178452.4   c.

rs267607225

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.84159744C>T
NC_000016.9   g.84193349C>T
NG_021174.1   g.19485C>T
NM_178452.6   c.811C>T
NM_178452.5   c.811C>T
NM_178452.4   c.811C>T
NM_001318756.1   c.55C>T
XM_011522854.3   c.811C>T
XM_006721129.3   c.811C>T
XM_011522853.3   c.811C>T
XM_011522855.3   c

Protein Summary

• Protein general information: Q04695  
  • Name: Keratin, type I cytoskeletal 17 (39.1) (Cytokeratin 17) (CK 17) (Keratin 17) (K17)
  • Length: 432  
  • Mass: 48106
  • Tissue specificity: Expressed in the outer root sheath and medulla region of hair follicle specifically from eyebrow and beard, digital pulp, nail matrix and nail bed epithelium, mucosal stratified squamous epithelia and in basal cells of oral epithelium,
• Sequence:

  MTTSIRQFTSSSSIKGSSGLGGGSSRTSCRLSGGLGAGSCRLGSAGGLGSTLGGSSYSSCYSFGSGGGYGSSFGG
  VDGLLAGGEKATMQNLNDRLASYLDKVRALEEANTELEVKIRDWYQRQAPGPARDYSQYYRTIEELQNKILTATV
  DNANILLQIDNARLAADDFRTKFETEQALRLSVEADINGLRRVLDELTLARADLEMQIENLKEELAYLKKNHEEE
  MNALRGQVGGEINVEMDAAPGVDLSRILNEMRDQYEKMAEKNRKDAEDWFFSKTEELNREVATNSELVQSGKSEI
  SELRRTMQALEIELQSQLSMKASLEGNLAETENRYCVQLSQIQGLIGSVEEQLAQLRCEMEQQNQEYKILLDVKT
  RLEQEIATYRRLLEGEDAHLTQYKKEPVTTRQVRTIVEEVQDGKVISSREQVHQTTR

• Structural information:
  • Protein Domains: (84..39-)
    (/note="IF-rod)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01188"-)
  • Interpro: IPR018039  IPR039008  IPR042180  IPR002957  
  • Prosite: PS00226 PS51842
  • DIP: 33093
  • STRING: ENSP00000308452
• Other Databases: GeneCards:  KRT17  Malacards:  KRT17

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031069	hair follicle morphogenesis	ISS	biological process
GO:0005198	structural molecule activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005882	intermediate filament	IEA	cellular component
GO:0005882	intermediate filament	IEA	cellular component
GO:0031424	keratinization	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0070268	cornification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031069	hair follicle morphogenesis	IEA	biological process
GO:0045109	intermediate filament organization	IEA	biological process
GO:0045727	positive regulation of translation	IEA	biological process
GO:0051798	positive regulation of hair follicle development	IEA	biological process
GO:0071944	cell periphery	IEA	cellular component
GO:0002009	morphogenesis of an epithelium	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0030307	positive regulation of cell growth	IEA	biological process
GO:0031424	keratinization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0045111	intermediate filament cytoskeleton	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04915	Estrogen signaling pathway
hsa05150	Staphylococcus aureus infection

Diseases

Associated diseases	References
Pachyonychia congenita	KEGG:H00684
Pachyonychia congenita	KEGG:H00684
Ectodermal dysplasia	PMID:7539673
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881