Homo sapiens Protein: KRT81
Summary
InnateDB Protein IDBP-34256.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KRT81
Protein Name keratin 81
Synonyms ghHkb1; Hb-1; HB1; hHAKB2-1; KRTHB1; MLN137;
Species Homo sapiens
Ensembl Protein ENSP00000369349
InnateDB Gene IDBG-34254 (KRT81)
Protein Structure
UniProt Annotation
Function
Subcellular Localization
Disease Associations Monilethrix (MLTRX) [MIM:158000]: 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. {ECO:0000269PubMed:9402962, ECO:0000269PubMed:9665406}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Abundantly expressed in the differentiating cortex of growing (anagen) hair. Expression is restricted to the keratinocytes of the hair cortex and is absent from inner root sheath and medulla. Expressed in malignant lymph node tissue in breast carcinoma tissue. {ECO:0000269PubMed:7490069, ECO:0000269PubMed:7528047, ECO:0000269PubMed:9457912}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
Experimentally validated
Total 14 [view]
Protein-Protein 14 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005198 structural molecule activity
GO:0005515 protein binding
Biological Process
Cellular Component
GO:0005615 extracellular space
GO:0005882 intermediate filament
GO:0045095 keratin filament
Protein Structure and Domains
PDB ID
InterPro IPR001664 Intermediate filament protein
IPR003054 Keratin, type II
IPR009053 Prefoldin
PFAM PF00038
PRINTS PR01276
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q14533
PhosphoSite PhosphoSite-Q14533
TrEMBL Q8NFV1
UniProt Splice Variant
Entrez Gene 3887
UniGene Hs.683440
RefSeq NP_002272
HUGO HGNC:6458
OMIM 602153
CCDS CCDS31805
HPRD 03691
IMGT
EMBL AC121757 AF416705 AY121753 AY123848 AY152544 BC006452 BC021241 BC117465 BC117467 S75796 X80197 X81420 Y13621
GenPept AAB32813 AAH06452 AAH21241 AAI17466 AAI17468 AAM92877 AAM94951 AAN04663 AAN75226 CAA56488 CAA57180 CAA73943