RBCC Red Blood Cell Collection

K2C8_HUMAN

Source: hRBCD ; ID: IPI00418411
PM19886704
PM23856902
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: KRT8 , CYK8
Protein names and data: K2C8_HUMAN , Keratin, type II cytoskeletal 8 , Cytokeratin-8; CK-8; Keratin-8; K8; Type-II keratin Kb8 Lenght: 483 a.a.
Mass: 53704 Da
fasta formatted sequence
Function: Together with KRT19, helps to link the contractile apparatus to dystrophin at the costameres of striated muscle.
Disease: ( OMIM: 148060 215600 ) Cirrhosis (CIRRH) [MIM:215600]: A liver disease characterized by severe panlobular liver-cell swelling with Mallory body formation, prominent pericellular fibrosis, and marked deposits of copper. Clinical features include abdomen swelling, jaundice and pulmonary hypertension. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm. Nucleus, nucleoplasm (By similarity). Nucleus matrix (By similarity).
Tissue specificity: Observed in muscle fibers accumulating in the costameres of myoplasm at the sarcolemma membrane in structures that contain dystrophin and spectrin. Expressed in gingival mucosa and hard palate of the oral cavity.

Genetic variants

53 - 53 G -> V (in CIRRH; dbSNP:rs61710484). VAR_023058 61710484
54 - 54 Y -> C (in CIRRH). VAR_023059
62 - 62 G -> C (in CIRRH; dbSNP:rs11554495). VAR_023060 11554495
63 - 63 I -> V (in dbSNP:rs59536457). VAR_023061 59536457
401 - 401 R -> W (in dbSNP:rs2277330). VAR_049805 2277330
417 - 417 S -> G (in dbSNP:rs1065591). VAR_069106 1065591
429 - 429 G -> D (in dbSNP:rs1065648). VAR_069107 1065648

Database cross-references

UniProt: P05787
Ensembl: ENST00000293308
Ensembl: ENST00000546897
Ensembl: ENST00000552150
Ensembl: ENST00000552551
MIM: 148060
MIM: 215600
neXtProt: NX_P05787
Antibodypedia: P05787 (may not find the protein thus also not any antibody)
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