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Aliases for KCMF1 Gene

Aliases for KCMF1 Gene

  • Potassium Channel Modulatory Factor 1 2 3 5
  • RING-Type E3 Ubiquitin Transferase KCMF1 3 4
  • ZZ-Type Zinc Finger-Containing Protein 1 3 4
  • FGF-Induced In Gastric Cancer 3 4
  • FIGC 3 4
  • PCMF 3 4
  • ZZZ1 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
  • E3 Ubiquitin-Protein Ligase KCMF1 3
  • EC 2.3.2.27 4
  • DEBT91 3

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 Mansonelliasis. Among its related pathways are Hepatic ABC Transporters and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include ligase activity.

UniProtKB/Swiss-Prot for KCMF1 Gene

  • Has intrinsic E3 ubiquitin ligase activity and promotes ubiquitination.

Additional gene information for KCMF1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCMF1 Gene

Genomics for KCMF1 Gene

GeneHancer (GH) Regulatory Elements for KCMF1 Gene

Promoters and enhancers for KCMF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J084923 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 654.6 -45.3 -45292 4 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 KCMF1 LOC105374838 USP39 LOC100996506 C2orf68 RPS2P17
GH02J084968 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 657.8 -0.2 -166 5.8 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 ZNF766 KCMF1 GC02M084965 GC02M084958
GH02J084918 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -51.3 -51251 3.3 PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 IRF4 FOS MAT2A TCF7L1 ELMOD3 KCMF1 TMSB10 RPS2P17 LOC105374838
GH02J085014 Enhancer 1.1 FANTOM5 Ensembl ENCODE 18.4 +44.3 44308 1.6 CTCF CEBPG ZNF2 RAD21 TEAD3 ZNF121 SCRT2 SMC3 IKZF2 RUNX3 GC02P085016 KCMF1 RPS2P17 TRABD2A GC02M084958 PIR52578 GC02M085007
GH02J085017 Enhancer 0.9 Ensembl ENCODE 17.1 +47.4 47440 2.7 SOX13 CTCF USF1 SAP130 ZFP64 BATF RAD21 RERE ADNP ZNF143 GC02P085016 GC02M084958 KCMF1 RPS2P17 TRABD2A GC02M085069 PIR46561
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for KCMF1 Gene

Genomic Locations for KCMF1 Gene
chr2:84,971,093-85,059,472
(GRCh38/hg38)
Size:
88,380 bases
Orientation:
Plus strand
chr2:85,198,216-85,286,595
(GRCh37/hg19)
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

Post-translational modifications for KCMF1 Gene

  • Ubiquitination at isoforms=14
  • Modification sites at PhosphoSitePlus

Other Protein References for KCMF1 Gene

No data available for DME Specific Peptides 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

Suggested Antigen Peptide Sequences for KCMF1 Gene

GenScript: Design optimal peptide antigens:

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:
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.
UniProtKB/Swiss-Prot Induction:
Up-regulated by FGF2 in gastric cancer cells.

Enzyme Numbers (IUBMB) for KCMF1 Gene

Gene Ontology (GO) - Molecular Function for KCMF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0008270 zinc ion binding IEA --
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with KCMF1: view
genes like me logo Genes that share phenotypes with KCMF1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Clone Products

No data available for Phenotypes From GWAS Catalog , 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
extracellular 4
nucleus 4
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
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: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

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

Gene Ontology (GO) - Biological Process for KCMF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043312 neutrophil degranulation TAS --
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

Unigene Clusters for KCMF1 Gene

Potassium channel modulatory factor 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

No ASD Table

Relevant External Links for KCMF1 Gene

GeneLoc Exon Structure for
KCMF1
ECgene alternative splicing isoforms for
KCMF1

Expression for KCMF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of KCMF1 Gene:

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

  • Adrenal gland(4.2)
  • Liver(4.2)
  • Stomach(4.2)
  • Nervous system(2.6)
genes like me logo Genes that share expression patterns with KCMF1: view

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 34 33
  • 99.65 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCMF1 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC475773 33
  • 97.96 (n)
KCMF1 34
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCMF1 34 33
  • 96.85 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCMF1 34
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcmf1 33
  • 94.4 (n)
mouse
(Mus musculus)
Mammalia Kcmf1 16 34 33
  • 94.05 (n)
chicken
(Gallus gallus)
Aves -- 34
  • 94 (a)
OneToMany
-- 34
  • 93 (a)
OneToMany
KCMF1 33
  • 90.03 (n)
lizard
(Anolis carolinensis)
Reptilia KCMF1 34
  • 97 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7328 33
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.810 33
zebrafish
(Danio rerio)
Actinopterygii kcmf1 34 33
  • 78.04 (n)
OneToOne
zgc64160 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12246 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002670 33
  • 54.78 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11984 34
  • 36 (a)
OneToMany
CG3526 34
  • 32 (a)
OneToMany
CG31835 34
  • 23 (a)
OneToMany
CG42585 34
  • 23 (a)
OneToMany
CG15286 34
  • 18 (a)
OneToMany
CG31642 34
  • 13 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ZK652.6 34
  • 22 (a)
OneToOne
Species where no ortholog for KCMF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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

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 from dbSNP and Humsavar for KCMF1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000039784 -- 85,002,290(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000041196 -- 85,000,034(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000170923 -- 84,985,843(+) C/G genic_upstream_transcript_variant, intron_variant
rs1000228379 -- 85,042,146(+) C/A intron_variant
rs1000243193 -- 84,976,667(+) A/G genic_upstream_transcript_variant, intron_variant

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

SNP Genotyping and Copy Number Assay Products

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: DISEASES

Disorder Aliases PubMed IDs
mansonelliasis
  • mansonella perstans infections
- 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 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3 58
  5. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert JP … Gingras AC (Journal of proteomics 2015) 3 58

Products for KCMF1 Gene

Sources for KCMF1 Gene

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