InnateDB Protein
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IDBP-34521.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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KRT75
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Protein Name
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keratin 75
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Synonyms
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K6HF; KB18; PFB;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000252245
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InnateDB Gene
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IDBG-34519 (KRT75)
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Protein Structure
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Function |
Plays a central role in hair and nail formation. Essential component of keratin intermediate filaments in the companion layer of the hair follicle.
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Subcellular Localization |
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Disease Associations |
Loose anagen hair syndrome (LAHS) [MIM:600628]: In LAHS, anagen hairs are easily pulled from the scalp. The hair is relatively sparse and does not grow long. Hair of fair color and hair shafts of reduced caliber, and an early age of onset are features. Usually the hairs are not fragile and there are no areas of breakage. {ECO:0000269PubMed:11939812}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Highly expressed in hair follicles from scalp. Specifically expressed in the of the hair companion layer follicle, a single layered band of flat and vertically oriented cells between the cuboidal outer root sheath (ORS) cells and the inner root sheath (IRS) that stretches from the lowermost bulb region to the isthmus of the follicle. Also expressed in medullated hairs. In nails, it is almost exclusively present in the nail bed (at protein level). {ECO:0000269PubMed:14675170, ECO:0000269PubMed:15292489, ECO:0000269PubMed:18032949, ECO:0000269PubMed:9856802}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
16
[view]
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Protein-Protein |
16
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0005198
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structural molecule activity
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Biological Process |
GO:0002244
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hematopoietic progenitor cell differentiation
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Cellular Component |
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PDB ID |
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InterPro |
IPR001664
Intermediate filament protein
IPR003054
Keratin, type II
IPR009053
Prefoldin
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PFAM |
PF00038
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PRINTS |
PR01276
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
O95678
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PhosphoSite |
PhosphoSite-O95678
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
9119
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UniGene |
Hs.697046
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RefSeq |
NP_004684
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HUGO |
HGNC:24431
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OMIM |
609025
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CCDS |
CCDS8827
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HPRD |
11057
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IMGT |
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EMBL |
AC055736
AK298960
Y17282
Y19212
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GenPept |
BAG61056
CAA76730
CAB76832
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