K2C1_HUMAN
Source:
PM23856902
BSc_CH
Marked as 'Membrane associated protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
KRT1
, KRTA
Protein names and data:
K2C1_HUMAN
, Keratin, type II cytoskeletal 1
, 67 kDa cytokeratin; Cytokeratin-1; CK-1; Hair alpha protein; Keratin-1; K1; Type-II keratin Kb1
Lenght: 644 a.a.
Mass: 66039 Da
fasta formatted sequence
Function:
May regulate the activity of kinases such as PKC and SRC via binding to integrin beta-1 (ITB1) and the receptor of activated protein kinase C (RACK1/GNB2L1). In complex with C1QBP is a high affinity receptor for kininogen-1/HMWK.
Disease:
( OMIM:
113800
139350
146590
600962
607602
607654
)
Epidermolytic hyperkeratosis (EHK) [MIM:113800]: An autosomal dominant skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop. Note=The disease is caused by mutations affecting the gene represented in this entry. Ichthyosis hystrix, Curth-Macklin type (IHCM) [MIM:146590]: A genodermatosis with severe verrucous hyperkeratosis. Affected individuals manifest congenital verrucous black scale on the scalp, neck, and limbs with truncal erythema, palmoplantar keratoderma and keratoses on the lips, ears, nipples and buttocks. Note=The disease is caused by mutations affecting the gene represented in this entry. Keratoderma, palmoplantar, non-epidermolytic (NEPPK) [MIM:600962]: A dermatological disorder characterized by well- demarcated hyperkeratosis is present over the palms and soles. A red band is frequently present at the periphery of the keratosis. It is usually non-transgredient, with a sharp demarcation of the lesions at the wrists. Note=The disease is caused by mutations affecting the gene represented in this entry. Ichthyosis annular epidermolytic (AEI) [MIM:607602]: A skin disorder resembling bullous congenital ichthyosiform erythroderma. Affected individuals present with bullous ichthyosis in early childhood and hyperkeratotic lichenified plaques in the flexural areas and extensor surfaces at later ages. The feature that distinguishes AEI from BCIE is dramatic episodes of flares of annular polycyclic plaques with scale, which coalesce to involve most of the body surface and can persist for several weeks or even months. Note=The disease is caused by mutations affecting the gene represented in this entry. Keratoderma, palmoplantar, striate 3 (SPPK3) [MIM:607654]: A dermatological disorder characterized by thickening of the stratum corneum and epidermal layers on palms and soles. There is no involvement of non-palmoplantar skin, and both hair and nails are normal. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cell membrane. Note=Located on plasma membrane of neuroblastoma NMB7 cells.
Tissue specificity:
The source of this protein is neonatal foreskin. The 67-kDa type II keratins are expressed in terminally differentiating epidermis.
Genetic variants
There are two size variants of KRT1, termed allele 1A and allele 1B with allelic frequencies of 0.61 and 0.39. Allele 1B lacks 7 residues compared to allele 1A.
74 - 74
K -> I (in NEPPK; dbSNP:rs57977969). VAR_017819
57977969
155 - 155
V -> D (in EHK). VAR_017820
155 - 155
V -> G (in EHK; dbSNP:rs57959072). VAR_003853
57959072
161 - 161
L -> P (in EHK; dbSNP:rs57695159). VAR_003854
57695159
176 - 197
Missing (in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas). VAR_038627
186 - 186
S -> P (in EHK; dbSNP:rs60022878). VAR_003855
60022878
188 - 188
N -> K (in EHK; dbSNP:rs59429455). VAR_017821
59429455
188 - 188
N -> S (in EHK; dbSNP:rs58928370). VAR_003856
58928370
188 - 188
N -> T (in EHK; severe). VAR_017822
193 - 193
S -> P (in EHK; dbSNP:rs60937700). VAR_003857
60937700
214 - 214
L -> P (in EHK; dbSNP:rs61549035). VAR_017823
61549035
312 - 312
I -> V. VAR_003858
330 - 330
I -> T. VAR_003859
340 - 340
D -> V (in EHK; dbSNP:rs58062863). VAR_017824
58062863
358 - 358
Y -> N (in dbSNP:rs1050872). VAR_003860
1050872
454 - 454
A -> S (in dbSNP:rs17678945). VAR_038628
17678945
459 - 466
Missing (in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas). VAR_038629
479 - 479
I -> F (in AEI; dbSNP:rs61218439). VAR_017825
61218439
479 - 479
I -> T (in AEI and EHK; dbSNP:rs57837128). VAR_017826
57837128
482 - 482
Y -> C (in EHK; dbSNP:rs58420087). VAR_017827
58420087
486 - 486
L -> P (in EHK; dbSNP:rs56914602). VAR_017828
56914602
490 - 490
E -> Q (in EHK; dbSNP:rs60279707). VAR_003861
60279707
537 - 537
G -> C. VAR_003862
560 - 566
Missing (in allele 1B). VAR_003864
633 - 633
K -> R (in dbSNP:rs14024). VAR_003863
14024
Database cross-references
UniProt:
P04264
Ensembl:
ENST00000252244
MIM:
113800
MIM:
139350
MIM:
146590
MIM:
600962
MIM:
607602
MIM:
607654
neXtProt:
NX_P04264
Antibodypedia:
P04264
(may not find the protein thus also not any antibody)
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