KRTAP5-1 (keratin associated protein 5-1)

2014-11-01  

Identity

HGNC
KRTAP5-1
LOCATION
11p15.5
LOCUSID
387264
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

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

References

Pubmed IDYearTitleCitations
122347092002Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients.5
164422672006Runx1 transcription factor is involved in the regulation of KAP5 gene expression in human hair follicles.3

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