KRTAP1-3 (keratin associated protein 1-3)

2014-11-01  

Identity

HGNC
KRTAP1-3
LOCATION
17q21.2
LOCUSID
81850
ALIAS
KAP1.2,KAP1.3,KAP1.6,KAP1.8A,KAP1.8B,KAP1.9,KRTAP1.3

Other Information

Locus ID:

NCBI: 81850
MIM: 608820
HGNC: 16771
Ensembl: ENSG00000221880

Variants:

dbSNP: 81850
ClinVar: 81850
TCGA: ENSG00000221880
COSMIC: KRTAP1-3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000221880ENST00000344363Q8IUG1

Expression (GTEx)

0
1
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
122282442002Polymorphisms in the human high sulfur hair keratin-associated protein 1, KAP1, gene family.6

Citation

Dessen P

KRTAP1-3 (keratin associated protein 1-3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/65068/krtap1-3