Aliases for KCMF1 Gene

Aliases for KCMF1 Gene

  • Potassium Channel Modulatory Factor 1 2 3 5
  • PCMF 2 3 4
  • ZZZ1 2 3 4
  • RING-Type E3 Ubiquitin Transferase KCMF1 3 4
  • ZZ-Type Zinc Finger-Containing Protein 1 3 4
  • E3 Ubiquitin-Protein Ligase KCMF1 3 4
  • FGF-Induced In Gastric Cancer 3 4
  • DEBT91 2 3
  • FIGC 3 4
  • FGF-Induced Ubiquitin-Protein Ligase In Gastric Cancers 3
  • Differentially Expressed In Branching Tubulogenesis 91 3
  • Zinc Finger, ZZ Domain Containing 1 3
  • Potassium Channel Modulatory Factor 4
  • DKFZP434L1021 2
  • EC 2.3.2.27 4
  • EC 6.3.2 50
  • KCMF1 5

External Ids for KCMF1 Gene

Previous GeneCards Identifiers for KCMF1 Gene

  • GC02P085155
  • GC02P085173
  • GC02P085109
  • GC02P085051
  • GC02P085198

Summaries for KCMF1 Gene

GeneCards Summary for KCMF1 Gene

KCMF1 (Potassium Channel Modulatory Factor 1) is a Protein Coding gene. Diseases associated with KCMF1 include Epidermodysplasia Verruciformis 1. Among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Sweet Taste Signaling. Gene Ontology (GO) annotations related to this gene include ligase activity.

UniProtKB/Swiss-Prot Summary for KCMF1 Gene

  • Has intrinsic E3 ubiquitin ligase activity and promotes ubiquitination.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCMF1 Gene

Genomics for KCMF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KCMF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCMF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCMF1

Top Transcription factor binding sites by QIAGEN in the KCMF1 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • CUTL1
  • GATA-6
  • LCR-F1
  • Pax-4a
  • POU3F2
  • USF1
  • USF2

Genomic Locations for KCMF1 Gene

Latest Assembly
chr2:84,971,093-85,059,472
(GRCh38/hg38)
Size:
88,380 bases
Orientation:
Plus strand

Previous Assembly
chr2:85,198,284-85,286,595
(GRCh37/hg19 by Entrez Gene)
Size:
88,312 bases
Orientation:
Plus strand

chr2:85,198,216-85,286,595
(GRCh37/hg19 by Ensembl)
Size:
88,380 bases
Orientation:
Plus strand

Genomic View for KCMF1 Gene

Genes around KCMF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCMF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCMF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCMF1 Gene

Proteins for KCMF1 Gene

  • Protein details for KCMF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P0J7-KCMF1_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase KCMF1
    Protein Accession:
    Q9P0J7
    Secondary Accessions:
    • Q4ZG04
    • Q53SC7
    • Q9BWK2
    • Q9H8P5
    • Q9UFE8

    Protein attributes for KCMF1 Gene

    Size:
    381 amino acids
    Molecular mass:
    41945 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAX88897.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for KCMF1 Gene

Selected DME Specific Peptides for KCMF1 Gene

Q9P0J7:
  • GGQLNSSGPSASQLQQLQMQLQLERQ
  • ESERADRSLFVQELLLSTL
  • ADFGAMGCVDIMPLDVALE
  • HPMQCILTRVDFDLYYGGEAFSVEQPQSFTCPYCGKMGY
  • SQFLLTRLN
  • NMHFTSSSTGGLSSSQSS

Post-translational modifications for KCMF1 Gene

  • Ubiquitination at Lys14
  • Modification sites at PhosphoSitePlus

Other Protein References for KCMF1 Gene

Domains & Families for KCMF1 Gene

Gene Families for KCMF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for KCMF1 Gene

InterPro:
Blocks:
  • Zn-finger, ZZ type

Suggested Antigen Peptide Sequences for KCMF1 Gene

GenScript: Design optimal peptide antigens:
  • ZZ-type zinc finger-containing protein 1 (KCMF1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9P0J7

UniProtKB/Swiss-Prot:

KCMF1_HUMAN :
  • Belongs to the KCMF1 family.
Family:
  • Belongs to the KCMF1 family.
genes like me logo Genes that share domains with KCMF1: view

Function for KCMF1 Gene

Molecular function for KCMF1 Gene

UniProtKB/Swiss-Prot Function:
Has intrinsic E3 ubiquitin ligase activity and promotes ubiquitination.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27;.
UniProtKB/Swiss-Prot Induction:
Up-regulated by FGF2 in gastric cancer cells.

Enzyme Numbers (IUBMB) for KCMF1 Gene

Phenotypes From GWAS Catalog for KCMF1 Gene

Gene Ontology (GO) - Molecular Function for KCMF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008270 zinc ion binding IEA --
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0061630 ubiquitin protein ligase activity IEA --
genes like me logo Genes that share ontologies with KCMF1: view
genes like me logo Genes that share phenotypes with KCMF1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCMF1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KCMF1 Gene

Localization for KCMF1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCMF1 gene
Compartment Confidence
cytosol 5
extracellular 4
nucleus 4
plasma membrane 3
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KCMF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IBA 21873635
GO:0045202 synapse IEA --
GO:1904813 ficolin-1-rich granule lumen TAS --
genes like me logo Genes that share ontologies with KCMF1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KCMF1 Gene

Pathways & Interactions for KCMF1 Gene

PathCards logo

SuperPathways for KCMF1 Gene

SuperPathway Contained pathways
1 Sweet Taste Signaling
.72
.72
.46
.44
.37
2 Activation of cAMP-Dependent PKA
.77
.77
.56
3 Neuropathic Pain-Signaling in Dorsal Horn Neurons
.47
.47
.40
4 Innate Immune System
5 Hepatic ABC Transporters
.41
.41
genes like me logo Genes that share pathways with KCMF1: view

Pathways by source for KCMF1 Gene

3 Reactome pathways for KCMF1 Gene
13 Qiagen pathways for KCMF1 Gene
  • Activation of cAMP-Dependent PKA
  • Aldosterone Signaling in Epithelial Cells
  • Bitter Taste Signaling
  • cAMP Pathway
  • Cellular Effects of Sildenafil

Gene Ontology (GO) - Biological Process for KCMF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
GO:0043312 neutrophil degranulation TAS --
GO:0099536 synaptic signaling IBA 21873635
genes like me logo Genes that share ontologies with KCMF1: view

No data available for SIGNOR curated interactions for KCMF1 Gene

Drugs & Compounds for KCMF1 Gene

No Compound Related Data Available

Transcripts for KCMF1 Gene

mRNA/cDNA for KCMF1 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCMF1

Alternative Splicing Database (ASD) splice patterns (SP) for KCMF1 Gene

No ASD Table

Relevant External Links for KCMF1 Gene

GeneLoc Exon Structure for
KCMF1

Expression for KCMF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KCMF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCMF1 Gene

This gene is overexpressed in Muscle - Skeletal (x4.8).

Protein differential expression in normal tissues from HIPED for KCMF1 Gene

This gene is overexpressed in Heart (29.5), Peripheral blood mononuclear cells (8.4), and Lung (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KCMF1 Gene



Protein tissue co-expression partners for KCMF1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCMF1

SOURCE GeneReport for Unigene cluster for KCMF1 Gene:

Hs.654968

mRNA Expression by UniProt/SwissProt for KCMF1 Gene:

Q9P0J7-KCMF1_HUMAN
Tissue specificity: Spleen, small intestine, ovary, peripheral blood, lung, kidney and pancreas. Expressed at low levels in the thymus, prostate, testis, colon, heart, brain, placenta and liver.

Evidence on tissue expression from TISSUES for KCMF1 Gene

  • Liver(4.3)
  • Stomach(4.2)
  • Adrenal gland(4.2)
  • Nervous system(3)
  • Blood(2)
genes like me logo Genes that share expression patterns with KCMF1: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KCMF1 Gene

Orthologs for KCMF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCMF1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KCMF1 29 30
  • 99.65 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KCMF1 30
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia LOC475773 29
  • 97.96 (n)
KCMF1 30
  • 97 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia KCMF1 29 30
  • 96.85 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KCMF1 30
  • 96 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Kcmf1 29
  • 94.4 (n)
Mouse
(Mus musculus)
Mammalia Kcmf1 29 16 30
  • 94.05 (n)
OneToOne
Chicken
(Gallus gallus)
Aves -- 30
  • 94 (a)
OneToMany
-- 30
  • 93 (a)
OneToMany
KCMF1 29
  • 90.03 (n)
Lizard
(Anolis carolinensis)
Reptilia KCMF1 30
  • 97 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7328 29
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.810 29
Zebrafish
(Danio rerio)
Actinopterygii kcmf1 29 30
  • 78.04 (n)
OneToOne
zgc64160 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12246 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002670 29
  • 54.78 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG11984 30
  • 36 (a)
OneToMany
CG3526 30
  • 32 (a)
OneToMany
CG31835 30
  • 23 (a)
OneToMany
CG42585 30
  • 23 (a)
OneToMany
CG15286 30
  • 18 (a)
OneToMany
CG31642 30
  • 13 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ZK652.6 30
  • 22 (a)
OneToOne
Species where no ortholog for KCMF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for KCMF1 Gene

ENSEMBL:
Gene Tree for KCMF1 (if available)
TreeFam:
Gene Tree for KCMF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCMF1: view image
Alliance of Genome Resources:
Additional Orthologs for KCMF1

Paralogs for KCMF1 Gene

(1) SIMAP similar genes for KCMF1 Gene using alignment to 3 proteins:

  • KCMF1_HUMAN
  • C9J3I2_HUMAN
  • C9JSW5_HUMAN
genes like me logo Genes that share paralogs with KCMF1: view

No data available for Paralogs for KCMF1 Gene

Variants for KCMF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCMF1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs11554335 Benign: not provided 85,049,523(+) C/T
NM_020122.5(KCMF1):c.759C>T (p.Asn253=)
SYNONYMOUS
rs115702180 Benign: not provided 85,053,283(+) T/C
NM_020122.5(KCMF1):c.1020T>C (p.Asp340=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KCMF1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KCMF1 Gene

Variant ID Type Subtype PubMed ID
esv2720288 CNV deletion 23290073
esv2720289 CNV deletion 23290073
esv2720290 CNV deletion 23290073
esv5336 CNV loss 18987735
nsv1112761 CNV deletion 24896259
nsv1129397 OTHER inversion 24896259
nsv1151651 CNV deletion 26484159
nsv834279 CNV loss 17160897

Variation tolerance for KCMF1 Gene

Residual Variation Intolerance Score: 25.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.26; 5.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCMF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCMF1
Leiden Open Variation Database (LOVD)
KCMF1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCMF1 Gene

Disorders for KCMF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KCMF1 Gene - From: COP

Disorder Aliases PubMed IDs
epidermodysplasia verruciformis 1
  • epidermodysplasia verruciformis, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards
Search KCMF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KCMF1

genes like me logo Genes that share disorders with KCMF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCMF1 Gene

Publications for KCMF1 Gene

  1. FIGC, a novel FGF-induced ubiquitin-protein ligase in gastric cancers. (PMID: 15581609) Jang JH (FEBS letters 2004) 3 4 22
  2. KCMF1 (potassium channel modulatory factor 1) Links RAD6 to UBR4 (ubiquitin N-recognin domain-containing E3 ligase 4) and lysosome-mediated degradation. (PMID: 25582440) Hong JH … Raught B (Molecular & cellular proteomics : MCP 2015) 2 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. (PMID: 32694731) Aregger M … Moffat J (Nature metabolism 2020) 3
  5. Wnt regulation: exploring Axin-Disheveled interactions and defining mechanisms by which the SCF E3 ubiquitin ligase is recruited to the destruction complex. (PMID: 32129710) Schaefer KN … Peifer M (Molecular biology of the cell 2020) 3

Products for KCMF1 Gene

Sources for KCMF1 Gene