• Gene id: 57830

Gene Summary

• Gene Symbol: KRTAP5-8   Gene   UCSC   Ensembl
• Aliases: KRTAP5-2, KRTAP5.8, UHSKerB
• Gene name: keratin associated protein 5-8
• Alternate names: keratin-associated protein 5-8, UHS KERB-like protein, UHS KerB, UHS keratin B, keratin, ultra high-sulfur matrix protein B, keratin, ultrahigh sulfur, B, keratin-associated protein 5.8, ultrahigh sulfur keratin-associated protein 5.8,
• Gene location: 11q13.4 (71538024: 71539208)     Exons: 12     NC_000011.10

Protein Summary

• Protein general information: O75690  
  • Name: Keratin associated protein 5 8 (Keratin, ultra high sulfur matrix protein B) (Keratin associated protein 5.8) (UHS keratin B) (UHS KerB) (Ultrahigh sulfur keratin associated protein 5.8)
  • Length: 187  
  • Mass: 17519
  • Tissue specificity: Restricted to hair root, not detected in any other tissues. Expressed in cuticle layers of differentiating hair follicles. {ECO
• Sequence:

  MGCCGCSGGCGSGCGGCGSGCGGCGSSCCVPICCCKPVCCCVPACSCSSCGSCGGSKGGRGSCGGSKGDCGSCGG
  SKGGCGSCGCSQCSCYKPCCCSSGCGSSCCQSSCCKPCCSQSSCCKPCSCSSGCGSSCCQSSCCKPCCSQSSCCK
  PCCCSSGCGSSCCQSSCCKPCCSQSSCCVPICCQCKI

• Structural information:
  • Interpro: IPR002494  
  • STRING: ENSP00000420723
• Other Databases: GeneCards:  KRTAP5-8  Malacards:  KRTAP5-8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045095	keratin filament	IEA	cellular component
GO:0005882	intermediate filament	IEA	cellular component
GO:0031424	keratinization	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030280	structural constituent of skin epidermis	NAS	molecular function
GO:0008150	biological_process	ND	biological process

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)