KDF1 keratinocyte differentiation factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KDF1provided by HGNC
Official Full Name: keratinocyte differentiation factor 1provided by HGNC
Primary source: HGNC:HGNC:26624
See related: Ensembl:ENSG00000175707 MIM:616758; AllianceGenome:HGNC:26624
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ECTD12; C1orf172
Summary: Predicted to be involved in several processes, including positive regulation of epidermal cell differentiation; regulation of epidermal cell division; and skin epidermis development. Predicted to act upstream of or within keratinocyte development and negative regulation of keratinocyte proliferation. Predicted to be located in cytoplasm. Predicted to be active in cell junction. Implicated in ectodermal dysplasia 12. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in thyroid (RPKM 5.3), duodenum (RPKM 5.2) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.11

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (26949562..26960468, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (26787618..26798705, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (27276053..27286959, complement)

Chromosome 1 - NC_000001.11 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

KDF1 Novel Variant Causes Unique Dental and Oral Epithelial Defects.
Title: KDF1 Novel Variant Causes Unique Dental and Oral Epithelial Defects.
We describe a family with a novel, autosomal dominant form of ectodermal dysplasia that we suggest is the mild human equivalent of the shd mutant phenotype in mouse based on the finding of a novel KDF1 variant by positional mapping and exome sequencing.
Title: KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type MedGen: C4310616 OMIM: 617337 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in developmental growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of skin barrier	ISS Inferred from Sequence or Structural Similarity more info
involved_in keratinocyte development	IEA Inferred from Electronic Annotation more info
involved_in keratinocyte proliferation	IEA Inferred from Electronic Annotation more info
involved_in limb epidermis development	ISS Inferred from Sequence or Structural Similarity more info
involved_in morphogenesis of embryonic epithelium	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of keratinocyte proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of stem cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of epidermal cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of epidermal cell division	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of epidermal cell division	ISS Inferred from Sequence or Structural Similarity more info
involved_in stem cell proliferation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in cell cortex	IEA Inferred from Electronic Annotation more info
is_active_in cell junction	IBA Inferred from Biological aspect of Ancestor more info
located_in cell junction	ISS Inferred from Sequence or Structural Similarity more info
located_in cell leading edge	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: keratinocyte differentiation factor 1

Names: RP11-344H11.3

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_152365.3 → NP_689578.2 keratinocyte differentiation factor 1

See identical proteins and their annotated locations for NP_689578.2

Status: VALIDATED

Source sequence(s)

AK091952, AL356390, BC033143, DA041083

Consensus CDS

CCDS293.1

UniProtKB/Swiss-Prot

Q5QP32, Q8N0S7, Q8NAX2

Related

ENSP00000319179.5, ENST00000320567.6

Conserved Domains (1) summary

pfam15551
Location:48 → 398

DUF4656; Domain of unknown function (DUF4656)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

26949562..26960468 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011540622.3 → XP_011538924.1 keratinocyte differentiation factor 1 isoform X1

See identical proteins and their annotated locations for XP_011538924.1

UniProtKB/Swiss-Prot

Q5QP32, Q8N0S7, Q8NAX2

Conserved Domains (1) summary

pfam15551
Location:48 → 398

DUF4656; Domain of unknown function (DUF4656)
XM_005245735.3 → XP_005245792.1 keratinocyte differentiation factor 1 isoform X1

See identical proteins and their annotated locations for XP_005245792.1

UniProtKB/Swiss-Prot

Q5QP32, Q8N0S7, Q8NAX2

Conserved Domains (1) summary

pfam15551
Location:48 → 398

DUF4656; Domain of unknown function (DUF4656)

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

26787618..26798705 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054334249.1 → XP_054190224.1 keratinocyte differentiation factor 1 isoform X1

UniProtKB/Swiss-Prot

Q5QP32, Q8N0S7, Q8NAX2
XM_054334248.1 → XP_054190223.1 keratinocyte differentiation factor 1 isoform X1

UniProtKB/Swiss-Prot

Q5QP32, Q8N0S7, Q8NAX2