K2C5_HUMAN
Source: BSc_CHMarked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: KRT5
Protein names and data: K2C5_HUMAN , Keratin, type II cytoskeletal 5 , 58 kDa cytokeratin; Cytokeratin-5; CK-5; Keratin-5; K5; Type-II keratin Kb5 Lenght: 590 a.a.
Mass: 62378 Da
fasta formatted sequence
Disease: ( OMIM: 131760 131800 131900 131960 148040 179850 609352 ) Epidermolysis bullosa simplex, Dowling-Meara type (DM- EBS) [MIM:131760]: A severe form of intraepidermal epidermolysis bullosa characterized by generalized herpetiform blistering, milia formation, dystrophic nails, and mucous membrane involvement. Note=The disease is caused by mutations affecting the gene represented in this entry. Epidermolysis bullosa simplex, with migratory circinate erythema (EBSMCE) [MIM:609352]: A form of intraepidermal epidermolysis bullosa characterized by unusual migratory circinate erythema. Skin lesions appear from birth primarily on the hands, feet, and legs but spare nails, ocular epithelia and mucosae. Lesions heal with brown pigmentation but no scarring. Electron microscopy findings are distinct from those seen in the DM-EBS, with no evidence of tonofilament clumping. Note=The disease is caused by mutations affecting the gene represented in this entry. Epidermolysis bullosa simplex, Weber-Cockayne type (WC- EBS) [MIM:131800]: A form of intraepidermal epidermolysis bullosa characterized by blistering limited to palmar and plantar areas of the skin. Note=The disease is caused by mutations affecting the gene represented in this entry. Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]: A form of intraepidermal epidermolysis bullosa characterized by generalized skin blistering. The phenotype is not fundamentally distinct from the Dowling-Meara type, although it is less severe. Note=The disease is caused by mutations affecting the gene represented in this entry. Epidermolysis bullosa simplex, with mottled pigmentation (MP-EBS) [MIM:131960]: A form of intraepidermal epidermolysis bullosa characterized by blistering at acral sites and 'mottled' pigmentation of the trunk and proximal extremities with hyper- and hypopigmentation macules. Note=The disease is caused by mutations affecting the gene represented in this entry. Dowling-Degos disease 1 (DDD1) [MIM:179850]: An autosomal dominant genodermatosis. Affected individuals develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genetic variants
25 - 25 P -> L (in MP-EBS; dbSNP:rs57499817). VAR_010453 5749981779 - 79 S -> R (in dbSNP:rs1065115). VAR_028763 1065115
138 - 138 G -> E (in dbSNP:rs11170164). VAR_003871 11170164
143 - 143 V -> D (in K-EBS; dbSNP:rs59851104). VAR_031640 59851104
152 - 152 P -> L (in WC-EBS; dbSNP:rs60617604). VAR_010454 60617604
158 - 158 D -> V (in WC-EBS; dbSNP:rs61222761). VAR_031641 61222761
161 - 161 I -> S (in WC-EBS; dbSNP:rs58058996). VAR_003872 58058996
167 - 167 E -> K (in WC-EBS; dbSNP:rs57378129). VAR_026536 57378129
168 - 168 E -> K (in DM-EBS; dbSNP:rs58619430). VAR_027722 58619430
169 - 169 R -> P (in DM-EBS; dbSNP:rs60720877). VAR_027723 60720877
170 - 170 E -> K (in K-EBS; dbSNP:rs59115483). VAR_026537 59115483
173 - 173 K -> N (in K-EBS; dbSNP:rs58163069). VAR_010455 58163069
175 - 175 L -> F (in DM-EBS; dbSNP:rs57890479). VAR_010456 57890479
176 - 176 N -> S (in DM-EBS; dbSNP:rs59092197). VAR_010457 59092197
177 - 177 N -> S (in WC-EBS; dbSNP:rs61495052). VAR_026538 61495052
179 - 179 F -> S (in DM-EBS; dbSNP:rs57781042). VAR_010458 57781042
181 - 181 S -> P (in DM-EBS; with laryngeal involvement; dbSNP:rs60715293). VAR_010459 60715293
186 - 186 V -> L (in K-EBS; dbSNP:rs61305583). VAR_013829 61305583
186 - 186 V -> M (in K-EBS). VAR_031642
190 - 190 E -> K (in WC-EBS; requires 2 nucleotide substitutions; dbSNP:rs58976397). VAR_027724 58976397
191 - 191 Q -> P (in K-EBS; dbSNP:rs57751134). VAR_031643 57751134
193 - 193 N -> K (in DM-EBS and WC-EBS; dbSNP:rs60586163). VAR_003873 60586163
197 - 197 D -> E (in dbSNP:rs641615). VAR_028764 641615
199 - 199 K -> T (in WC-EBS; dbSNP:rs58766676). VAR_026539 58766676
232 - 232 S -> N (in dbSNP:rs3194286). VAR_028765 3194286
311 - 311 L -> P (in WC-EBS). VAR_026540
323 - 323 V -> A (in K-EBS; dbSNP:rs59840738). VAR_010460 59840738
324 - 324 V -> D (in WC-EBS; dbSNP:rs59335325). VAR_026541 59335325
325 - 325 L -> P (in K-EBS; dbSNP:rs58107458). VAR_010461 58107458
327 - 327 M -> K (in WC-EBS). VAR_010462
327 - 327 M -> T (in WC-EBS; dbSNP:rs58072617). VAR_003874 58072617
328 - 328 D -> E (in WC-EBS; dbSNP:rs59464425). VAR_026542 59464425
328 - 328 D -> G (in WC-EBS). VAR_026543
328 - 328 D -> H (in WC-EBS; dbSNP:rs56790237). VAR_010463 56790237
328 - 328 D -> V (in WC-EBS; dbSNP:rs57142010). VAR_010464 57142010
329 - 329 N -> K (in WC-EBS; dbSNP:rs59730172). VAR_010465 59730172
331 - 331 R -> C (in WC-EBS). VAR_003875
331 - 331 R -> H (in WC-EBS). VAR_027725
352 - 352 R -> S (in WC-EBS). VAR_031644
387 - 387 S -> T (in dbSNP:rs2669875). VAR_028766 2669875
404 - 404 K -> E (in WC-EBS). VAR_023726
418 - 418 E -> K (in K-EBS). VAR_026544
438 - 438 A -> D (in WC-EBS). VAR_023727
463 - 463 L -> P (in K-EBS). VAR_003876
467 - 467 I -> T (in DM-EBS). VAR_010466
469 - 469 T -> P (in DM-EBS). VAR_027726
475 - 475 E -> G (in DM-EBS). VAR_003877
475 - 475 E -> K (in DM-EBS). VAR_023728
477 - 477 E -> K (in DM-EBS). VAR_010467
517 - 517 G -> D (in K-EBS). VAR_031645
528 - 528 S -> G (in dbSNP:rs11549950). VAR_028767 11549950
543 - 543 G -> S (in dbSNP:rs11549949). VAR_028768 11549949
Database cross-references
UniProt: P13647Ensembl: ENST00000252242
MIM: 131760
MIM: 131800
MIM: 131900
MIM: 131960
MIM: 148040
MIM: 179850
MIM: 609352
neXtProt: NX_P13647
Antibodypedia: P13647 (may not find the protein thus also not any antibody)
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