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

Gene ID: 126695, updated on 18-Aug-2020

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
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
Expression
Broad expression in thyroid (RPKM 5.3), duodenum (RPKM 5.2) and 18 other tissues See more
Orthologs

Genomic context

See KDF1 in Genome Data Viewer
Location:
1p36.11
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (26949556..26960496, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (27276047..27286901, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene G-patch domain containing 3 Neighboring gene nuclear distribution C, dynein complex regulator Neighboring gene nuclear receptor subfamily 0 group B member 2 Neighboring gene ribosomal protein L12 pseudogene 13 Neighboring gene ribosomal protein L32 pseudogene 6

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ34633

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
developmental growth ISS
Inferred from Sequence or Structural Similarity
more info
 
establishment of skin barrier ISS
Inferred from Sequence or Structural Similarity
more info
 
keratinocyte development IEA
Inferred from Electronic Annotation
more info
 
limb epidermis development ISS
Inferred from Sequence or Structural Similarity
more info
 
morphogenesis of embryonic epithelium ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of keratinocyte proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of stem cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of epidermal cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of epidermal cell division IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of epidermal cell division ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cell cortex IEA
Inferred from Electronic Annotation
more info
 
cell junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell junction IDA
Inferred from Direct Assay
more info
 
cell junction ISS
Inferred from Sequence or Structural Similarity
more info
 
cell leading edge IEA
Inferred from Electronic Annotation
more info
 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
mitotic spindle IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
keratinocyte differentiation factor 1
Names
RP11-344H11.3

NCBI Reference Sequences (RefSeq)

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)

  1. NM_152365.3NP_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
    Q8NAX2
    Related
    ENSP00000319179.5, ENST00000320567.6
    Conserved Domains (1) summary
    pfam15551
    Location:48398
    DUF4656; Domain of unknown function (DUF4656)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    26949556..26960496 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540622.2XP_011538924.1  keratinocyte differentiation factor 1 isoform X1

    See identical proteins and their annotated locations for XP_011538924.1

    UniProtKB/Swiss-Prot
    Q8NAX2
    Conserved Domains (1) summary
    pfam15551
    Location:48398
    DUF4656; Domain of unknown function (DUF4656)
  2. XM_005245735.2XP_005245792.1  keratinocyte differentiation factor 1 isoform X1

    See identical proteins and their annotated locations for XP_005245792.1

    UniProtKB/Swiss-Prot
    Q8NAX2
    Conserved Domains (1) summary
    pfam15551
    Location:48398
    DUF4656; Domain of unknown function (DUF4656)
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