KRTAP5-1 (keratin associated protein 5-1)

2014-11-01  

Identity

HGNC
LOCATION
11p15.5
LOCUSID
ALIAS
KRN1L,KRTAP5.1

Other Information

Locus ID:

NCBI: 387264
MIM: 148022
HGNC: 23596
Ensembl: ENSG00000205869

Variants:

dbSNP: 387264
ClinVar: 387264
TCGA: ENSG00000205869
COSMIC: KRTAP5-1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000205869ENST00000382171Q6L8H4

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
KeratinizationREACTOMER-HSA-6805567

References

Pubmed IDYearTitleCitations
164422672006Runx1 transcription factor is involved in the regulation of KAP5 gene expression in human hair follicles.4
164422672006Runx1 transcription factor is involved in the regulation of KAP5 gene expression in human hair follicles.4
122347092002Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients.7
122347092002Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients.7

Citation

Dessen P

KRTAP5-1 (keratin associated protein 5-1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/65119/krtap5-1-(keratin-associated-protein-5-1)