KRTAP1-1 (keratin associated protein 1-1)

2014-11-01  

Identity

HGNC
KRTAP1-1
LOCATION
17q21.2
LOCUSID
81851
ALIAS
HB2A,KAP1.1,KAP1.1A,KAP1.1B,KAP1.6,KAP1.7,KRTAP1.1,KRTAP1A,hKAP1.7

Other Information

Locus ID:

NCBI: 81851
MIM: 608819
HGNC: 16772
Ensembl: ENSG00000188581

Variants:

dbSNP: 81851
ClinVar: 81851
TCGA: ENSG00000188581
COSMIC: KRTAP1-1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000188581ENST00000306271Q07627

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
244390382014Krtap11-1, a hair keratin-associated protein, as a possible crucial element for the physical properties of hair shafts.4

Citation

Dessen P

KRTAP1-1 (keratin associated protein 1-1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/65062/krtap1-1