Free for academic non-profit institutions. Other users need a Commercial license

KRT16 Gene(Protein Coding)

Keratin 16

GCID:
GC17M041609
GIFtS:
53
Genes Participants
UDN Logo

Aliases for KRT16 Gene

Aliases for KRT16 Gene

  • Keratin 16 2 3 5
  • Focal Non-Epidermolytic Palmoplantar Keratoderma 2 3
  • Keratin 16, Type I 2 3
  • KRT16A 3 4
  • K16 3 4
  • Keratin, Type I Cytoskeletal 16 3
  • Cytokeratin 16 3
  • Cytokeratin-16 4
  • Keratin-16 4
  • FNEPPK 3
  • NEPPK 3
  • CK-16 4
  • CK16 3
  • K1CP 3
  • PC1 3

External Ids for KRT16 Gene

Previous GeneCards Identifiers for KRT16 Gene

  • GC17M020580
  • GC17M041881
  • GC17M039544
  • GC17M040139
  • GC17M037019
  • GC17M039766
  • GC17M035529

Summaries for KRT16 Gene

Entrez Gene Summary for KRT16 Gene

  • The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region of chromosome 17q12-q21. This keratin has been coexpressed with keratin 14 in a number of epithelial tissues, including esophagus, tongue, and hair follicles. Mutations in this gene are associated with type 1 pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus. [provided by RefSeq, Jul 2008]

GeneCards Summary for KRT16 Gene

KRT16 (Keratin 16) is a Protein Coding gene. Diseases associated with KRT16 include Pachyonychia Congenita 1 and Palmoplantar Keratoderma, Nonepidermolytic, Focal 1. Among its related pathways are Keratinization and Developmental Biology. Gene Ontology (GO) annotations related to this gene include structural molecule activity and structural constituent of cytoskeleton. An important paralog of this gene is KRT14.

UniProtKB/Swiss-Prot for KRT16 Gene

  • Epidermis-specific type I keratin that plays a key role in skin. Acts as a regulator of innate immunity in response to skin barrier breach: required for some inflammatory checkpoint for the skin barrier maintenance.

Gene Wiki entry for KRT16 Gene

Additional gene information for KRT16 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRT16 Gene

Genomics for KRT16 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for KRT16 Gene

Promoters and enhancers for KRT16 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH17I041612 Promoter/Enhancer 1.1 EPDnew ENCODE 550.8 +2.9 2883 1 SMARCE1 MAZ SMARCC1 CEBPB DPF2 ZFHX2 JUND FOS CHD2 EGR2 KRT16 KRT14
GH17I041615 Enhancer 0.5 ENCODE 550.8 +0.3 275 0.2 ZNF687 GLIS2 RFX1 SP2 CREB1 KLF17 ZBTB17 KRT16 KRT14
GH17I041578 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13 +31.7 31705 10.6 PKNOX1 NFIB RAD21 ZNF335 ZNF143 ATF7 CREM EGR2 ZNF654 SP3 KRT14 KRT16 JUP KRT36 KRT9 KRT15 KRT17 KRT13 KRT19
GH17I041620 Promoter/Enhancer 1.6 EPDnew FANTOM5 ENCODE 7.6 -8.3 -8299 6.5 PKNOX1 NFIB KLF17 BRCA1 ZNF335 GLIS2 ZNF366 RCOR1 KLF7 EGR2 KRT17 GC17M041625 GC17M041622 KRT9 KRT15 KRT14 KRT19 KRT40 ENSG00000234477 KRT37
GH17I041649 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 5.8 -38.7 -38747 9.8 HDGF ARNT ZNF133 NEUROD1 YBX1 BRCA1 TCF12 GLIS2 ZNF143 ZNF207 ENSG00000267758 JUP HSD17B1 DHX58 GHDC ENSG00000259623 KRT14 CNP PSMC3IP RETREG3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KRT16 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KRT16 gene promoter:

Genomic Locations for KRT16 Gene

Genomic Locations for KRT16 Gene
chr17:41,609,778-41,615,899
(GRCh38/hg38)
Size:
6,122 bases
Orientation:
Minus strand
chr17:39,766,030-39,772,151
(GRCh37/hg19)

Genomic View for KRT16 Gene

Genes around KRT16 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT16 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT16 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KRT16 Gene

Proteins for KRT16 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for KRT16 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08779-K1C16_HUMAN
    Recommended name:
    Keratin, type I cytoskeletal 16
    Protein Accession:
    P08779
    Secondary Accessions:
    • A8K488
    • P30654
    • Q16402
    • Q9UBG8

    Protein attributes for KRT16 Gene

    Size:
    473 amino acids
    Molecular mass:
    51268 Da
    Quaternary structure:
    • Heterodimer of a type I and a type II keratin. KRT16 associates with KRT6 isomers (KRT6A or KRT6B) (By similarity). Interacts with TCHP (PubMed:15731013). Interacts with TRADD (By similarity).
    Miscellaneous:
    • There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).

neXtProt entry for KRT16 Gene

Protein Expression for KRT16 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for KRT16 Gene

No Post-translational modifications

Other Protein References for KRT16 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRT16 Gene

Domains & Families for KRT16 Gene

Gene Families for KRT16 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for KRT16 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for KRT16 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P08779

UniProtKB/Swiss-Prot:

K1C16_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT16: view

Function for KRT16 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for KRT16 Gene

GENATLAS Biochemistry:
keratin 16,type I,hair follicle,nail bed,palmoplantar skin,suprabasal orogenital mucosal keratinocytes,dimerizing with KRT6A,KRT6B
UniProtKB/Swiss-Prot Function:
Epidermis-specific type I keratin that plays a key role in skin. Acts as a regulator of innate immunity in response to skin barrier breach: required for some inflammatory checkpoint for the skin barrier maintenance.

Gene Ontology (GO) - Molecular Function for KRT16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005200 structural constituent of cytoskeleton NAS,IEA 2451124
GO:0005515 protein binding IPI 15731013
genes like me logo Genes that share ontologies with KRT16: view
genes like me logo Genes that share phenotypes with KRT16: view

Human Phenotype Ontology for KRT16 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KRT16 Gene

MGI Knock Outs for KRT16:

Animal Model Products

miRNA for KRT16 Gene

miRTarBase miRNAs that target KRT16

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for KRT16 Gene

Localization for KRT16 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KRT16 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KRT16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,HDA 21630459
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IDA 20403371
GO:0005882 intermediate filament IEA,NAS 2451124
GO:0070062 extracellular exosome IDA,HDA 19199708
genes like me logo Genes that share ontologies with KRT16: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRT16 Gene

Pathways & Interactions for KRT16 Gene

genes like me logo Genes that share pathways with KRT16: view

Pathways by source for KRT16 Gene

2 Reactome pathways for KRT16 Gene
1 GeneGo (Thomson Reuters) pathway for KRT16 Gene

Gene Ontology (GO) - Biological Process for KRT16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002009 morphogenesis of an epithelium ISS --
GO:0006954 inflammatory response ISS,IEA --
GO:0007010 cytoskeleton organization NAS 2451124
GO:0007568 aging IDA 21916889
GO:0008283 cell proliferation TAS 8595410
genes like me logo Genes that share ontologies with KRT16: view

No data available for SIGNOR curated interactions for KRT16 Gene

Drugs & Compounds for KRT16 Gene

Products:

  1. Drug

(11) Drugs for KRT16 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma Target 2430

(8) Additional Compounds for KRT16 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KRT16: view

Transcripts for KRT16 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for KRT16 Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(287) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KRT16 Gene

Keratin 16:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for KRT16 Gene

No ASD Table

Relevant External Links for KRT16 Gene

GeneLoc Exon Structure for
KRT16
ECgene alternative splicing isoforms for
KRT16

Expression for KRT16 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRT16 Gene

mRNA expression in normal human tissues for KRT16 Gene
mRNA expression by BioGPS for KRT16 GenemRNA expression by GTEx for KRT16 Gene

mRNA differential expression in normal tissues according to GTEx for KRT16 Gene

This gene is overexpressed in Esophagus - Mucosa (x17.8), Skin - Not Sun Exposed (Suprapubic) (x8.7), Minor Salivary Gland (x7.7), Vagina (x7.0), Cervix - Ectocervix (x6.2), and Skin - Sun Exposed (Lower leg) (x4.2).

Protein differential expression in normal tissues from HIPED for KRT16 Gene

This gene is overexpressed in Urinary Bladder (35.3), Hair follicle (14.6), and Saliva (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KRT16 Gene



Protein tissue co-expression partners for KRT16 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KRT16 Gene:

KRT16

SOURCE GeneReport for Unigene cluster for KRT16 Gene:

Hs.655160

mRNA Expression by UniProt/SwissProt for KRT16 Gene:

P08779-K1C16_HUMAN
Tissue specificity: Expressed in the hair follicle, nail bed and in mucosal stratified squamous epithelia and, suprabasally, in oral epithelium and palmoplantar epidermis. Also found in luminal cells of sweat and mammary gland ducts.

Evidence on tissue expression from TISSUES for KRT16 Gene

  • Skin(5)
  • Liver(4.2)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT16 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • scalp
  • skull
  • tongue
  • tooth
  • vocal cord
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • hair
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with KRT16: view

Primer Products

Orthologs for KRT16 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT16 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia KRT16 33 34
  • 98.32 (n)
dog
(Canis familiaris)
 Mammalia KRT16 33
  • 90.37 (n)
-- 34
  • 70 (a)
 ManyToMany
rat
(Rattus norvegicus)
 Mammalia Krt16 33
  • 85.22 (n)
cow
(Bos Taurus)
 Mammalia KRT16 33 34
  • 84.71 (n)
mouse
(Mus musculus)
 Mammalia Krt16 33 16 34
  • 82.78 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 80 (a)
 OneToMany
oppossum
(Monodelphis domestica)
 Mammalia -- 34
  • 75 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves KRT14 34
  • 67 (a)
 ManyToMany
-- 34
  • 65 (a)
 ManyToMany
lizard
(Anolis carolinensis)
 Reptilia -- 34
  • 66 (a)
 ManyToMany
-- 34
  • 65 (a)
 ManyToMany
zebrafish
(Danio rerio)
 Actinopterygii Dr.25556 33
Species where no ortholog for KRT16 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KRT16 Gene

ENSEMBL:
Gene Tree for KRT16 (if available)
TreeFam:
Gene Tree for KRT16 (if available)

Paralogs for KRT16 Gene

Variants for KRT16 Gene

Sequence variations from dbSNP and Humsavar for KRT16 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs145649029 uncertain-significance, Inborn genetic diseases 41,611,115(-) A/G coding_sequence_variant, missense_variant
rs28928894 pathogenic, not-provided, not provided, Pachyonychia congenita, type 1, Pachyonychia congenita 1 (PC1) [MIM:167200] 41,612,327(-) A/C/G/T coding_sequence_variant, missense_variant
rs28928895 pathogenic, not-provided, not provided, Pachyonychia congenita, type 1, Pachyonychia congenita 1 (PC1) [MIM:167200] 41,612,306(-) A/G/T coding_sequence_variant, missense_variant
rs57424749 pathogenic, not-provided, Pachyonychia congenita, type 1, not provided, Pachyonychia congenita 1 (PC1) [MIM:167200] 41,612,309(-) C/G/T coding_sequence_variant, missense_variant
rs58181827 pathogenic, Pachyonychia congenita, type 1, not provided 41,612,298(-) AGGAGG/AGG coding_sequence_variant, inframe_deletion

Structural Variations from Database of Genomic Variants (DGV) for KRT16 Gene

Variant ID Type Subtype PubMed ID
nsv962326 CNV duplication 23825009
nsv827992 CNV gain 20364138
nsv575040 CNV gain 21841781
nsv1146669 OTHER inversion 26484159
esv3640591 CNV gain 21293372
esv34903 CNV gain 17911159
esv2758690 CNV gain+loss 17122850

Variation tolerance for KRT16 Gene

Residual Variation Intolerance Score: 96.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.10; 61.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRT16 Gene

Human Gene Mutation Database (HGMD)
KRT16
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRT16

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT16 Gene

Disorders for KRT16 Gene

MalaCards: The human disease database

(32) MalaCards diseases for KRT16 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search KRT16 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

K1C16_HUMAN
  • Keratoderma, palmoplantar, non-epidermolytic, focal 1 (FNEPPK1) [MIM:613000]: A dermatological disorder characterized by non-epidermolytic palmoplantar keratoderma limited to the pressure points on the balls of the feet, with later mild involvement on the palms. Oral, genital and follicular keratotic lesions are often present. {ECO:0000269 PubMed:8595410}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=KRT16 and KRT17 are coexpressed only in pathological situations such as metaplasias and carcinomas of the uterine cervix and in psoriasis vulgaris.
  • Pachyonychia congenita 1 (PC1) [MIM:167200]: An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma, follicular hyperkeratosis, and oral leukokeratosis. Hyperhidrosis of the hands and feet is usually present. {ECO:0000269 PubMed:10521820, ECO:0000269 PubMed:10606845, ECO:0000269 PubMed:10839714, ECO:0000269 PubMed:11359398, ECO:0000269 PubMed:11886499, ECO:0000269 PubMed:16250206, ECO:0000269 PubMed:17719747, ECO:0000269 PubMed:21160496, ECO:0000269 PubMed:21326300, ECO:0000269 PubMed:22668561, ECO:0000269 PubMed:24118415, ECO:0000269 PubMed:7539673}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KRT16

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with KRT16: view

No data available for Genatlas for KRT16 Gene

Publications for KRT16 Gene

  1. A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. (PMID: 17719747) Liao H … Smith FJ (Journal of dermatological science 2007) 3 4 22 58
  2. Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. (PMID: 11886499) Terrinoni A … McLean WH (The Journal of investigative dermatology 2001) 3 4 22 58
  3. Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16. (PMID: 11359398) Connors JB … Milstone LM (The British journal of dermatology 2001) 3 4 22 58
  4. A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus. (PMID: 10844556) Terrinoni A … Melino G (The Journal of investigative dermatology 2000) 3 4 22 58
  5. Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma. (PMID: 10839714) Smith FJ … McLean WH (Experimental dermatology 2000) 3 4 22 58

Products for KRT16 Gene

Sources for KRT16 Gene

Content
Loading form....