HuLPr26116

Uniprot ID

KRT83_HUMAN

Uniprot Acc

P78385;A1A4S9;B2RC21;Q6NT21;Q9NSB3;

Protein name

Keratin, type II cuticular Hb3

Comment

SUBUNIT:Heterotetramer of two type I and two type II keratins.||TISSUE SPECIFICITY:Synthesis begins in the cortex 10-15 cell layers above the apex of the dermal papilla and ends abruptly in the middle of the cortex.||DISEASE:Defects in KRT83 are a cause of monilethrix (MLTRX) [MIM:158000]. Monilethrix is an autosomal dominant hair disorder characterized clinically by alopecia and follicular papules. Affected hairs have uniform elliptical nodes of normal thickness and intermittent constrictions, internodes at which the hair easily breaks. Usually only the scalp is involved, but in severe forms, the secondary sexual hair, eyebrows, eyelashes, and nails may also be affected.||MISCELLANEOUS:There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic).||SIMILARITY:Belongs to the intermediate filament family.||WEB RESOURCE:Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT83";

Gene name

keratin 83

Protein sequence

MTCGFNSIGCGFRPGNFSCVSACGPRPSRCCITAAPYRGI SCYRGLTGGFGSHSVCGGFRAGSCGRSFGYRSGGVCGPS PPCITTVSVNESLLTPLNLEIDPNAQCVKQEEKEQIKSL NSRFAAFIDKVRFLEQQNKLLETKLQFYQNRECCQSNLE PLFAGYIETLRREAECVEADSGRLASELNHVQEVLEGYK KKYEEEVALRATAENEFVALKKDVDCAYLRKSDLEANVE ALIQEIDFLRRLYEEEIRILQSHISDTSVVVKLDNSRDL NMDCIVAEIKAQYDDIATRSRAEAESWYRSKCEEMKATV IRHGETLRRTKEEINELNRMIQRLTAEVENAKCQNSKLE AAVAQSEQQGEAALSDARCKLAELEGALQKAKQDMACLI REYQEVMNSKLGLDIEIATYRRLLEGEEQRLCEGVEAVN VCVSSSRGGVVCGDLCVSGSRPVTGSVCSAPCNGNLVVS TGLCKPCGQLNTTCGGGSCGQGRH

Database cross reference

RefSeq Protein accession:NP_002273
RefSeq Protein gi:169790841

HLPP validation

Yes/No

Yes

Project name

French Liver;Human Fetal Liver;Human Liver Organelles;

GO:0045095;C:keratin filament;IEA:InterPro.

GO-F

GO:0005198;F:structural molecule activity;IEA:InterPro.

GO-P

GO:0008544;P:epidermis development;TAS:ProtInc.