Kdf1 keratinocyte differentiation factor 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Kdf1provided by MGI
Official Full Name: keratinocyte differentiation factor 1provided by MGI
Primary source: MGI:MGI:1916323
See related: Ensembl:ENSMUSG00000037600 AllianceGenome:MGI:1916323
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 1810019J16Rik
Summary: Involved in several processes, including positive regulation of epidermal cell differentiation; regulation of epidermal cell division; and skin epidermis development. Acts upstream of or within keratinocyte development and negative regulation of keratinocyte proliferation. Located in cell cortex; cell junction; and cell leading edge. Is expressed in several structures, including alimentary system; choroid plexus; lower urinary tract; olfactory epithelium; and skin. Human ortholog(s) of this gene implicated in ectodermal dysplasia 12. Orthologous to human KDF1 (keratinocyte differentiation factor 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in duodenum adult (RPKM 31.6), colon adult (RPKM 21.1) and 14 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D2.3; 4 66.25 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (133246274..133258101)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (133518733..133530790)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Regulation of epidermal differentiation through KDF1-mediated deubiquitination of IKKalpha.
Title: Regulation of epidermal differentiation through KDF1-mediated deubiquitination of IKKα.
The Keratinocyte differentiation factor 1 is an essential regulator of the proliferation-differentiation balance in epidermal progenitor cells.
Title: Forward genetics identifies Kdf1/1810019J16Rik as an essential regulator of the proliferation-differentiation decision in epidermal progenitor cells.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Targeted (1)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in developmental growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of skin barrier	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within keratinocyte development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within keratinocyte development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of keratinocyte proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of keratinocyte proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in limb epidermis development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in morphogenesis of embryonic epithelium	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of keratinocyte proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of keratinocyte proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of stem cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of stem cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of stem cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of epidermal cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of epidermal cell division	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of epidermal cell division	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of stem cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of stem cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in cell cortex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cell junction	IBA Inferred from Biological aspect of Ancestor more info
located_in cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in cell leading edge	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: keratinocyte differentiation factor 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001083916.1 → NP_001077385.1 keratinocyte differentiation factor 1

See identical proteins and their annotated locations for NP_001077385.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.

Source sequence(s)

AK007551, BF318332, BG069889, BY028727, BY230091, BY781417

Consensus CDS

CCDS38905.1

UniProtKB/Swiss-Prot

A2A9F4, Q8C1Q5

UniProtKB/TrEMBL

A8Y5H9

Related

ENSMUSP00000101521.2, ENSMUST00000105901.2

Conserved Domains (1) summary

pfam15551
Location:48 → 397

DUF4656; Domain of unknown function (DUF4656)
NM_133707.2 → NP_598468.2 keratinocyte differentiation factor 1

See identical proteins and their annotated locations for NP_598468.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.

Source sequence(s)

AK007551, BF318332, BG069889, BY028727, BY781417

Consensus CDS

CCDS38905.1

UniProtKB/Swiss-Prot

A2A9F4, Q8C1Q5

UniProtKB/TrEMBL

A8Y5H9

Related

ENSMUSP00000048768.10, ENSMUST00000042919.16

Conserved Domains (1) summary

pfam15551
Location:48 → 397

DUF4656; Domain of unknown function (DUF4656)