Reactome | DSC1 [cornified envelope]

DSC1 [cornified envelope]

Stable Identifier

R-HSA-8847712

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cornified envelope

Synonyms

Desmocollin-1, DSC1_HUMAN

Locations in the PathwayBrowser

Expand all

Developmental Biology (Homo sapiens)

- Keratinization (Homo sapiens)
  - Formation of the cornified envelope (Homo sapiens)
    - Plasma membrane resorption (Homo sapiens)
      - Mature cornified envelope [cornified envelope] (Homo sapiens)
        
        No FGN-cornified envelope:CDSN [cornified envelope] (Homo sapiens)
        
        No FGN-Cornified envelope [cornified envelope] (Homo sapiens)
        
        No FGN-early cornified envelope [cornified envelope] (Homo sapiens)
        
        Keratin tonofilament:Desmosome network [cornified envelope] (Homo sapiens)
        
        Keratin tonofilament:Desmosome [cornified envelope] (Homo sapiens)
        
        Desmosome [cornified envelope] (Homo sapiens)
        
        Desmocolins [cornified envelope] (Homo sapiens)
        
        DSC1 [cornified envelope] (Homo sapiens)

External Reference Information

External Reference

UniProt:Q08554 DSC1

Gene Names

DSC1, CDHF1

Chain

signal peptide:1-29, propeptide:30-134, chain:135-894

Reference Genes

BioGPS Gene:1823 DSC1

COSMIC (genes):DSC1 DSC1

CTD Gene:1823 DSC1

dbSNP Gene:1823 DSC1

ENSEMBL:ENSG00000134765 DSC1

HGNC:3035 DSC1

KEGG:hsa:1823 DSC1

Monarch:1823 DSC1

NCBI Gene:1823 DSC1

OMIM:125643 DSC1

UCSC:Q08554 DSC1

Reference Transcript

Other Identifiers

11740488_x_at

16854509

1823

207324_PM_s_at

207324_s_at

34619_at

3802987

3803017

3803019

3803021

3803022

3803023

3803024

3803025

3803026

3803027

3803028

3803029

3803030

3803031

3803032

3803033

3803034

3803036

3803037

3803038

3803039

3803040

3803041

8022728

A_23_P38696

GE82835

GO:0001533

GO:0005509

GO:0005515

GO:0005886

GO:0005921

GO:0007155

GO:0007156

GO:0016020

GO:0030057

GO:0043226

GO:0046872

GO:0070062

GO:0070161

GO:0098609

GO:0101003

HMNXSV003018277

ILMN_1730284

ILMN_2402640

PH_hs_0023910

TC18000437.hg

X72925_at

g13435362_3p_a_at

Participates

as a member of

Desmocolins [cornified envelope] (Homo sapiens)

Other forms of this molecule

DSC1 [plasma membrane]

DSC1 [ficolin-1-rich granule membrane]

Inferred To

DSC1 [cornified envelope] (Bos taurus)

DSC1 [cornified envelope] (Sus scrofa)

Dsc1 [cornified envelope] (Mus musculus)

Dsc1 [cornified envelope] (Rattus norvegicus)

Cross References

ENSEMBL

ENST00000257198, ENST00000257197, ENSP00000257198, ENSP00000257197

OpenTargets

ENSG00000134765

HPA

ENSG00000134765-DSC1

PRO

Q08554

Pharos - Targets

Q08554

GlyGen

Q08554

HMDB Protein

HMDBP07655

PDB

5IRY

Interactors (1)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P13569 CFTR	17	misfolded CFTR [endoplasmic reticulum membrane] (R-HSA-8868730) CFTR [endoplasmic reticulum membrane] (R-HSA-8866837) CFTR [plasma membrane] (R-HSA-383188) CFTR N1303K [plasma membrane] (R-HSA-5678983) CFTR F508del [plasma membrane] (R-HSA-5678978) CFTR W1282* [plasma membrane] (R-HSA-5678976) CFTR G551D [plasma membrane] (R-HSA-5678977) CFTR G542* [plasma membrane] (R-HSA-5678986) ub-CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866842) ub-CFTR F508del [cytosol] (R-HSA-8866838) CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866834) PolyUb-CFTR [endosome membrane] (R-HSA-6782976) CFTR [endosome membrane] (R-HSA-6782965) CFTR [Golgi-associated vesicle membrane] (R-HSA-5627079) CFTR [lysosomal membrane] (R-HSA-5627279) PolyUb-CFTR [plasma membrane] (R-HSA-8867595) PolyUb-CFTR [clathrin-coated endocytic vesicle membrane] (R-HSA-8869104)	0.615	5