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KDF1 (keratinocyte differentiation factor 1)

Identity

Alias_namesC1orf172
chromosome 1 open reading frame 172
Alias_symbol (synonym)FLJ34633
RP11-344H11.3
Other aliasECTD12
HGNC (Hugo) KDF1
LocusID (NCBI) 126695
Atlas_Id 56136
Location 1p36.11  [Link to chromosome band 1p36]
Location_base_pair Starts at 26949556 and ends at 26960410 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DNAJC8 (1p35.3) / KDF1 (1p36.11)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)KDF1   26624
Cards
Entrez_Gene (NCBI)KDF1  126695  keratinocyte differentiation factor 1
AliasesC1orf172; ECTD12
GeneCards (Weizmann)KDF1
Ensembl hg19 (Hinxton)ENSG00000175707 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000175707 [Gene_View]  chr1:26949556-26960410 [Contig_View]  KDF1 [Vega]
ICGC DataPortalENSG00000175707
TCGA cBioPortalKDF1
AceView (NCBI)KDF1
Genatlas (Paris)KDF1
WikiGenes126695
SOURCE (Princeton)KDF1
Genetics Home Reference (NIH)KDF1
Genomic and cartography
GoldenPath hg38 (UCSC)KDF1  -     chr1:26949556-26960410 -  1p36.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KDF1  -     1p36.11   [Description]    (hg19-Feb_2009)
EnsemblKDF1 - 1p36.11 [CytoView hg19]  KDF1 - 1p36.11 [CytoView hg38]
Mapping of homologs : NCBIKDF1 [Mapview hg19]  KDF1 [Mapview hg38]
OMIM616758   617337   
Gene and transcription
Genbank (Entrez)AI216202 AK091952 BC033143 CR749558 DA041083
RefSeq transcript (Entrez)NM_152365
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KDF1
Cluster EST : UnigeneHs.188881 [ NCBI ]
CGAP (NCI)Hs.188881
Alternative Splicing GalleryENSG00000175707
Gene ExpressionKDF1 [ NCBI-GEO ]   KDF1 [ EBI - ARRAY_EXPRESS ]   KDF1 [ SEEK ]   KDF1 [ MEM ]
Gene Expression Viewer (FireBrowse)KDF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)126695
GTEX Portal (Tissue expression)KDF1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NAX2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NAX2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NAX2
Splice isoforms : SwissVarQ8NAX2
PhosPhoSitePlusQ8NAX2
Domains : Interpro (EBI)DUF4656   
Domain families : Pfam (Sanger)DUF4656 (PF15551)   
Domain families : Pfam (NCBI)pfam15551   
Conserved Domain (NCBI)KDF1
DMDM Disease mutations126695
Blocks (Seattle)KDF1
SuperfamilyQ8NAX2
Human Protein AtlasENSG00000175707
Peptide AtlasQ8NAX2
HPRD08754
IPIIPI00168162   IPI00470848   
Protein Interaction databases
DIP (DOE-UCLA)Q8NAX2
IntAct (EBI)Q8NAX2
FunCoupENSG00000175707
BioGRIDKDF1
STRING (EMBL)KDF1
ZODIACKDF1
Ontologies - Pathways
QuickGOQ8NAX2
Ontology : AmiGOkeratinocyte development  nucleoplasm  cytoplasm  cell cortex  regulation of epidermal cell division  negative regulation of keratinocyte proliferation  morphogenesis of embryonic epithelium  cell junction  cell junction  cell leading edge  positive regulation of epidermal cell differentiation  developmental growth  limb epidermis development  establishment of skin barrier  mitotic spindle  negative regulation of stem cell proliferation  
Ontology : EGO-EBIkeratinocyte development  nucleoplasm  cytoplasm  cell cortex  regulation of epidermal cell division  negative regulation of keratinocyte proliferation  morphogenesis of embryonic epithelium  cell junction  cell junction  cell leading edge  positive regulation of epidermal cell differentiation  developmental growth  limb epidermis development  establishment of skin barrier  mitotic spindle  negative regulation of stem cell proliferation  
NDEx NetworkKDF1
Atlas of Cancer Signalling NetworkKDF1
Wikipedia pathwaysKDF1
Orthology - Evolution
OrthoDB126695
GeneTree (enSembl)ENSG00000175707
Phylogenetic Trees/Animal Genes : TreeFamKDF1
HOVERGENQ8NAX2
HOGENOMQ8NAX2
Homologs : HomoloGeneKDF1
Homology/Alignments : Family Browser (UCSC)KDF1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKDF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KDF1
dbVarKDF1
ClinVarKDF1
1000_GenomesKDF1 
Exome Variant ServerKDF1
ExAC (Exome Aggregation Consortium)KDF1 (select the gene name)
Genetic variants : HAPMAP126695
Genomic Variants (DGV)KDF1 [DGVbeta]
DECIPHERKDF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKDF1 
Mutations
ICGC Data PortalKDF1 
TCGA Data PortalKDF1 
Broad Tumor PortalKDF1
OASIS PortalKDF1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDKDF1
BioMutasearch KDF1
DgiDB (Drug Gene Interaction Database)KDF1
DoCM (Curated mutations)KDF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KDF1 (select a term)
intoGenKDF1
Cancer3DKDF1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616758    617337   
Orphanet
MedgenKDF1
Genetic Testing Registry KDF1
NextProtQ8NAX2 [Medical]
TSGene126695
GENETestsKDF1
Huge Navigator KDF1 [HugePedia]
snp3D : Map Gene to Disease126695
BioCentury BCIQKDF1
ClinGenKDF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD126695
Chemical/Pharm GKB GenePA142672421
Clinical trialKDF1
Miscellaneous
canSAR (ICR)KDF1 (select the gene name)
Probes
Litterature
PubMed5 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKDF1
EVEXKDF1
GoPubMedKDF1
iHOPKDF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Fri May 19 12:21:22 CEST 2017

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