InnateDB Protein
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IDBP-34559.5
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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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KRT6B
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Protein Name
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keratin 6B
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Synonyms
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CK-6B; CK6B; K6B; KRTL1; PC2; PC4;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000252252
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InnateDB Gene
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IDBG-34557 (KRT6B)
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Protein Structure
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Function |
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Subcellular Localization |
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Disease Associations |
Pachyonychia congenita 2 (PC2) [MIM:167210]: An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma and hyperhidrosis, follicular hyperkeratosis, multiple epidermal cysts, absent/sparse eyebrow and body hair, and by the presence of natal teeth. {ECO:0000269PubMed:9618173}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Constitutively expressed in distinct types of epithelia such as those in oral mucosa, esophagus, papillae of tongue and hair follicle outer root sheath.
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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 26 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
26
[view]
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Protein-Protein |
24
[view]
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Protein-DNA |
2
[view]
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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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GO:0005200
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structural constituent of cytoskeleton
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Biological Process |
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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 |
P04259
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PhosphoSite |
PhosphoSite-P04259
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
3854
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UniGene |
Hs.708950
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RefSeq |
NP_005546
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HUGO |
HGNC:6444
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OMIM |
148042
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CCDS |
CCDS8828
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HPRD |
01012
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IMGT |
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EMBL |
AC055736
BC034535
L00198
L00199
L00200
L00201
L00202
L00203
L00204
L00205
L42584
L42585
L42586
L42587
L42588
L42589
L42590
L42592
L42612
M11229
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GenPept |
AAA59466
AAC41768
AAC41771
AAH34535
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