Q8NAX2 · KDF1_HUMAN
- ProteinKeratinocyte differentiation factor 1
- GeneKDF1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids398 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Plays a role in the regulation of the epidermis formation during early development. Required both as an inhibitor of basal cell proliferation and a promoter of differentiation of basal progenitor cell progeny (By similarity).
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | anchoring junction | |
Cellular Component | cell cortex | |
Cellular Component | cell junction | |
Cellular Component | cell leading edge | |
Cellular Component | cytoplasm | |
Biological Process | developmental growth | |
Biological Process | establishment of skin barrier | |
Biological Process | keratinocyte development | |
Biological Process | keratinocyte proliferation | |
Biological Process | limb epidermis development | |
Biological Process | morphogenesis of embryonic epithelium | |
Biological Process | negative regulation of keratinocyte proliferation | |
Biological Process | negative regulation of stem cell proliferation | |
Biological Process | positive regulation of epidermal cell differentiation | |
Biological Process | regulation of epidermal cell division | |
Biological Process | stem cell proliferation |
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameKeratinocyte differentiation factor 1
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ8NAX2
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Note: Localized at cell borders in single layered keratinocytes. Localized at cell borders in the basal and spinous layers but is more diffusely localized in the granular layer. Colocalized with actin near the cell membrane, especially in cellular protrusions (By similarity).
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type (ECTD12)
- Note
- DescriptionA form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD12 is an autosomal dominant, hypohidrotic form characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth, and the inability to sweat due to defective development of sweat glands.
- See alsoMIM:617337
Natural variants in ECTD12
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_078070 | 251 | F>L | in ECTD12; uncertain significance; dbSNP:rs1057519508 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_032561 | 100 | in dbSNP:rs17360994 | |||
Sequence: Q → R | ||||||
Natural variant | VAR_032562 | 107 | in dbSNP:rs3010109 | |||
Sequence: R → W | ||||||
Natural variant | VAR_032563 | 189 | in dbSNP:rs34291506 | |||
Sequence: K → R | ||||||
Natural variant | VAR_078070 | 251 | in ECTD12; uncertain significance; dbSNP:rs1057519508 | |||
Sequence: F → L | ||||||
Natural variant | VAR_035616 | 312 | in a colorectal cancer sample; somatic mutation; dbSNP:rs755094201 | |||
Sequence: R → H |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 450 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue (large scale data), modified residue.
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000289048 | 1-398 | UniProt | Keratinocyte differentiation factor 1 | |||
Sequence: MPRPGHPRPASGPPRLGPWERPTELCLETYDKPPQPPPSRRTRRPDPKDPGHHGPESITFISGSAEPALESPTCCLLWRPWVWEWCRAAFCFRRCRDCLQRCGACVRGCSPCLSTEDSTEGTAEANWAKEHNGVPPSPDRAPPSRRDGQRLKSTMGSSFSYPDVKLKGIPVYPYPRATSPAPDADSCCKEPLADPPPMRHSLPSTFASSPRGSEEYYSFHESDLDLPEMGSGSMSSREIDVLIFKKLTELFSVHQIDELAKCTSDTVFLEKTSKISDLISSITQDYHLDEQDAEGRLVRGIIRISTRKSRARPQTSEGRSTRAAAPTAAAPDSGHETMVGSGLSQDELTVQISQETTADAIARKLRPYGAPGYPASHDSSFQGTDTDSSGAPLLQVYC | |||||||
Modified residue (large scale data) | 11 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 137 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 158 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 160 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 179 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 186 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 201 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 208 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 209 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 218 | UniProt | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q8NAX2 | ARID5A Q03989 | 3 | EBI-11997992, EBI-948603 | |
BINARY | Q8NAX2 | MIPOL1 Q8TD10 | 3 | EBI-11997992, EBI-2548751 | |
BINARY | Q8NAX2 | POU6F2 P78424 | 3 | EBI-11997992, EBI-12029004 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for compositional bias, region.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 1-16 | Pro residues | ||||
Sequence: MPRPGHPRPASGPPRL | ||||||
Region | 1-60 | Disordered | ||||
Sequence: MPRPGHPRPASGPPRLGPWERPTELCLETYDKPPQPPPSRRTRRPDPKDPGHHGPESITF | ||||||
Compositional bias | 37-53 | Basic and acidic residues | ||||
Sequence: PPSRRTRRPDPKDPGHH | ||||||
Region | 123-156 | Disordered | ||||
Sequence: AEANWAKEHNGVPPSPDRAPPSRRDGQRLKSTMG | ||||||
Region | 307-340 | Disordered | ||||
Sequence: RKSRARPQTSEGRSTRAAAPTAAAPDSGHETMVG | ||||||
Region | 369-392 | Disordered | ||||
Sequence: GAPGYPASHDSSFQGTDTDSSGAP | ||||||
Compositional bias | 377-391 | Polar residues | ||||
Sequence: HDSSFQGTDTDSSGA |
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length398
- Mass (Da)43,642
- Last updated2007-05-29 v2
- ChecksumBFD4D537D2F2A8D2
Sequence caution
Features
Showing features for compositional bias, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 1-16 | Pro residues | ||||
Sequence: MPRPGHPRPASGPPRL | ||||||
Compositional bias | 37-53 | Basic and acidic residues | ||||
Sequence: PPSRRTRRPDPKDPGHH | ||||||
Sequence conflict | 150 | in Ref. 1; BAC03775 | ||||
Sequence: R → Q | ||||||
Compositional bias | 377-391 | Polar residues | ||||
Sequence: HDSSFQGTDTDSSGA |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AK091952 EMBL· GenBank· DDBJ | BAC03775.1 EMBL· GenBank· DDBJ | mRNA | ||
AL356390 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC033143 EMBL· GenBank· DDBJ | AAH33143.1 EMBL· GenBank· DDBJ | mRNA | Different initiation |