K1C16_HUMAN
Source:
BSc_CH
Marked as 'Non-membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
KRT16
, KRT16A
Protein names and data:
K1C16_HUMAN
, Keratin, type I cytoskeletal 16
, Cytokeratin-16; CK-16; Keratin-16; K16
Lenght: 473 a.a.
Mass: 51268 Da
fasta formatted sequence
Disease:
( OMIM:
144200
148067
167200
613000
)
Pachyonychia congenita 1 (PC1) [MIM:167200]: An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma, follicular hyperkeratosis, and oral leukokeratosis. Hyperhidrosis of the hands and feet is usually present. Note=The disease is caused by mutations affecting the gene represented in this entry. Keratoderma, palmoplantar, non-epidermolytic, focal (FNEPPK) [MIM:613000]: A dermatological disorder characterized by non-epidermolytic palmoplantar keratoderma limited to the pressure points on the balls of the feet, with later mild involvement on the palms. Oral, genital and follicular keratotic lesions are often present. Note=The disease is caused by mutations affecting the gene represented in this entry. Unilateral palmoplantar verrucous nevus (UPVN) [MIM:144200]: UPVN is characterized by a localized epidermolytic hyperkeratosis in parts of the right palm and the right sole, following the lines of Blaschko. Note=The disease is caused by mutations affecting the gene represented in this entry. Note=KRT16 and KRT17 are coexpressed only in pathological situations such as metaplasias and carcinomas of the uterine cervix and in psoriasis vulgaris.
Tissue specificity:
Expressed in the hair follicle, nail bed and in mucosal stratified squamous epithelia and, suprabasally, in oral epithelium and palmoplantar epidermis. Also found in luminal cells of sweat and mammary gland ducts.
Genetic variants
104 - 107
Missing (in UPVN; somatic mutation). VAR_012854
121 - 121
M -> T (in PC1; dbSNP:rs28928894). VAR_017065
28928894
122 - 122
Q -> P (in PC1; dbSNP:rs59349773). VAR_012855
59349773
124 - 124
L -> R (in PC1; dbSNP:rs58293603). VAR_013837
58293603
125 - 125
N -> S (in FNEPPK; dbSNP:rs60723330). VAR_009183
60723330
127 - 127
R -> C (in FNEPPK; dbSNP:rs59856285). VAR_009184
59856285
127 - 127
R -> P (in PC1; dbSNP:rs57424749). VAR_012856
57424749
128 - 128
L -> Q (in PC1; dbSNP:rs28928895). VAR_017066
28928895
130 - 130
Missing (in PC1). VAR_035440
132 - 132
L -> P (in PC1; dbSNP:rs60944949). VAR_003846
60944949
354 - 354
K -> N (in PC1; late onset; dbSNP:rs59328451). VAR_017067
59328451
Database cross-references
UniProt:
P08779
Ensembl:
ENST00000301653
MIM:
144200
MIM:
148067
MIM:
167200
MIM:
613000
neXtProt:
NX_P08779
Antibodypedia:
P08779
(may not find the protein thus also not any antibody)
Local full text data:
click here
Users' comments
Login to add a comment.