K1C9_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:
KRT9
Protein names and data:
K1C9_HUMAN
, Keratin, type I cytoskeletal 9
, Cytokeratin-9; CK-9; Keratin-9; K9
Lenght: 623 a.a.
Mass: 62064 Da
fasta formatted sequence
Function:
May serve an important special function either in the mature palmar and plantar skin tissue or in the morphogenetic program of the formation of these tissues. Plays a role in keratin filament assembly.
Disease:
( OMIM:
144200
149100
607606
)
Keratoderma, palmoplantar, epidermolytic (EPPK) [MIM:144200]: A dermatological disorder characterized by diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous margins. Some patients may present knuckle pads, thick pads of skin appearing over the proximal phalangeal joints. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue specificity:
Expressed in the terminally differentiated epidermis of palms and soles.
Genetic variants
157 - 157
M -> R (in EPPK). VAR_036805
157 - 157
M -> T (in EPPK; dbSNP:rs59510579). VAR_010499
59510579
157 - 157
M -> V (in EPPK; dbSNP:rs58597584). VAR_010500
58597584
160 - 160
L -> F (in EPPK; with knuckle pads; dbSNP:rs28940896). VAR_035438
28940896
160 - 160
L -> V (in EPPK). VAR_010501
161 - 161
N -> H (in EPPK). VAR_036806
161 - 161
N -> I (in EPPK). VAR_036807
161 - 161
N -> K (in EPPK; dbSNP:rs57536312). VAR_003822
57536312
161 - 161
N -> S (in EPPK; dbSNP:rs56707768). VAR_010502
56707768
161 - 161
N -> Y (in EPPK; dbSNP:rs59296273). VAR_010503
59296273
163 - 163
R -> P (in EPPK). VAR_036808
163 - 163
R -> Q (in EPPK; dbSNP:rs57758262). VAR_003823
57758262
163 - 163
R -> W (in EPPK; dbSNP:rs59616921). VAR_003824
59616921
167 - 167
Y -> WL (in EPPK). VAR_036809
168 - 168
L -> S (in EPPK; dbSNP:rs61157095). VAR_003825
61157095
171 - 171
V -> M (in EPPK; dbSNP:rs57019720). VAR_035439
57019720
172 - 172
Q -> P (in EPPK; dbSNP:rs59878153). VAR_010504
59878153
458 - 458
L -> F (in EPPK; dbSNP:rs58120120). VAR_036810
58120120
Database cross-references
UniProt:
P35527
Ensembl:
ENST00000246662
MIM:
144200
MIM:
149100
MIM:
607606
neXtProt:
NX_P35527
Antibodypedia:
P35527
(may not find the protein thus also not any antibody)
Local full text data:
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