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
|
|
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 |
|
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
|
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR001664
Intermediate filament protein
IPR003054
Keratin, type II
IPR009053
Prefoldin
|
PFAM |
PF00038
|
PRINTS |
PR01276
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
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
|
|
|