Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 3880
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol KRT19   Gene   UCSC   Ensembl
Aliases CK19, K19, K1CS
Gene name keratin 19
Alternate names keratin, type I cytoskeletal 19, 40-kDa keratin intermediate filament, CK-19, cytokeratin 19, keratin 19, type I, keratin, type I, 40-kd,
Gene location 17q21.2 (41528388: 41523616)     Exons: 6     NC_000017.11
Gene summary(Entrez) The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. Unlike its related family members, this smallest known acidic cytokeratin is not paired with a basic cytokeratin in epithelial cells. It is specifically expressed in the periderm, the transiently superficial layer that envelopes the developing epidermis. The type I cytokeratins are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2008]

Protein Summary

Protein general information P08727  

Name: Keratin, type I cytoskeletal 19 (Cytokeratin-19) (CK-19) (Keratin-19) (K19)

Length: 400  Mass: 44,106

Tissue specificity: Expressed in a defined zone of basal keratinocytes in the deep outer root sheath of hair follicles. Also observed in sweat gland and mammary gland ductal and secretory cells, bile ducts, gastrointestinal tract, bladder urothelium, oral

Sequence MTSYSYRQSSATSSFGGLGGGSVRFGPGVAFRAPSIHGGSGGRGVSVSSARFVSSSSSGAYGGGYGGVLTASDGL
LAGNEKLTMQNLNDRLASYLDKVRALEAANGELEVKIRDWYQKQGPGPSRDYSHYYTTIQDLRDKILGATIENSR
IVLQIDNARLAADDFRTKFETEQALRMSVEADINGLRRVLDELTLARTDLEMQIEGLKEELAYLKKNHEEEISTL
RGQVGGQVSVEVDSAPGTDLAKILSDMRSQYEVMAEQNRKDAEAWFTSRTEELNREVAGHTEQLQMSRSEVTDLR
RTLQGLEIELQSQLSMKAALEDTLAETEARFGAQLAHIQALISGIEAQLGDVRADSERQNQEYQRLMDIKSRLEQ
EIATYRSLLEGQEDHYNNLSASKVL
Structural information
Protein Domains
IF (80-391)
Interpro:  IPR001664 IPR018039 IPR002957
Prosite:   PS00226 PS51842

Pfam:  
PF00038

DIP:  
35655
MINT:  
STRING:   ENSP00000355124;
Other Databases GeneCards:  KRT19;  Malacards:  KRT19

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005200 structural constituent of
cytoskeleton
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005882 intermediate filament
IEA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0007219 Notch signaling pathway
IEA biological_process
GO:0008307 structural constituent of
muscle
IDA molecular_function
GO:0016010 dystrophin-associated gly
coprotein complex
IEA cellular_component
GO:0016032 viral process
IEA biological_process
GO:0030018 Z disc
IEA cellular_component
GO:0032403 protein complex binding
IEA molecular_function
GO:0042383 sarcolemma
IEA cellular_component
GO:0043034 costamere
IDA cellular_component
GO:0043627 response to estrogen
IEP biological_process
GO:0045214 sarcomere organization
IDA biological_process
GO:0060706 cell differentiation invo
lved in embryonic placent
a development
IEA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0071944 cell periphery
IDA cellular_component
GO:1990357 terminal web
IEA cellular_component
GO:0005198 structural molecule activ
ity
IEA molecular_function
GO:0005200 structural constituent of
cytoskeleton
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005882 intermediate filament
IEA cellular_component
GO:0005882 intermediate filament
IEA cellular_component
GO:0005882 intermediate filament
TAS cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0007219 Notch signaling pathway
IEA biological_process
GO:0008307 structural constituent of
muscle
IDA molecular_function
GO:0016010 dystrophin-associated gly
coprotein complex
IEA cellular_component
GO:0016032 viral process
IEA biological_process
GO:0030018 Z disc
IEA cellular_component
GO:0032403 protein complex binding
IEA molecular_function
GO:0042383 sarcolemma
IEA cellular_component
GO:0043034 costamere
IDA cellular_component
GO:0043627 response to estrogen
IEP biological_process
GO:0045214 sarcomere organization
IDA biological_process
GO:0060706 cell differentiation invo
lved in embryonic placent
a development
IEA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0071944 cell periphery
IDA cellular_component
GO:1990357 terminal web
IEA cellular_component
GO:0005200 structural constituent of
cytoskeleton
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005882 intermediate filament
TAS cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0008307 structural constituent of
muscle
IDA molecular_function
GO:0043034 costamere
IDA cellular_component
GO:0043627 response to estrogen
IEP biological_process
GO:0045214 sarcomere organization
IDA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0071944 cell periphery
IDA cellular_component

Diseases

Associated diseases References
Endometriosis PMID: 21168580
Endometriosis INFBASE21168580

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
21168580 Endometrio
sis


Cytokeratin-19
Show abstract