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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
  • EC 6.3.2 61
  • 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. Among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Innate Immune System. GO annotations related to this gene include ligase activity.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for KCMF1 Gene

Genomics for KCMF1 Gene

Regulatory Elements for KCMF1 Gene

Enhancers for KCMF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G085014 1.3 FANTOM5 Ensembl ENCODE 18.4 +44.3 44308 1.6 CTCF CEBPG ZNF2 RAD21 TEAD3 ZNF121 SCRT2 SMC3 ZNF391 ZNF263 KCMF1 RPS2P17 TRABD2A GC02P085016 PIR52578 GC02M085007
GH02G084918 2 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -51.3 -51252 3.3 PKNOX1 FOXA2 MLX CREB3L1 ARNT ARID4B SIN3A FEZF1 DMAP1 FOS KCMF1 TMSB10 RPS2P17 LOC105374838
GH02G085017 1.1 Ensembl ENCODE 17.1 +47.4 47441 2.7 SOX13 CTCF PKNOX1 ATF1 SAP130 ZFP64 RAD21 ZFHX2 RERE ADNP KCMF1 RPS2P17 TRABD2A GC02M084958 GC02M085069 PIR46561
GH02G085057 1.2 Ensembl ENCODE 11.6 +87.1 87133 1.7 ZFP64 ARID4B ZNF48 ZNF2 ZBTB7B ZNF143 DEK ZNF263 SP5 MXD4 KCMF1 TCF7L1 RNU6-674P GC02M085069 PIR46561 GC02M084958
GH02G085003 0.9 Ensembl ENCODE 13.1 +32.8 32849 0.9 CTCF USF1 JUN CEBPB RBBP5 ATF2 TEAD3 RAD51 JUND ATF3 KCMF1 RPS2P17 TRABD2A PIR52578 GC02M085007
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KCMF1 on UCSC Golden Path with GeneCards custom track

Promoters for KCMF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000119495 107 4001 FOXA2 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 ZNF766

Genomic Location for KCMF1 Gene

Chromosome:
2
Start:
84,971,093 bp from pter
End:
85,059,472 bp from pter
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 isoforms=14
  • Modification sites at PhosphoSitePlus

Other Protein References for KCMF1 Gene

Domains & Families for KCMF1 Gene

Gene Families for KCMF1 Gene

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 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 Function:
Has intrinsic E3 ubiquitin ligase activity and promotes ubiquitination.
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

Clone Products

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
extracellular 4
nucleus 4
cytosol 3

Gene Ontology (GO) - Cellular Components for KCMF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
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

Unigene Clusters for KCMF1 Gene

Potassium channel modulatory factor 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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, PaxDb, 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

Primer Products

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 35
  • 99.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KCMF1 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC475773 34
  • 97.96 (n)
KCMF1 35
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCMF1 34 35
  • 96.85 (n)
oppossum
(Monodelphis domestica)
Mammalia KCMF1 35
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcmf1 34
  • 94.4 (n)
mouse
(Mus musculus)
Mammalia Kcmf1 34 16 35
  • 94.05 (n)
chicken
(Gallus gallus)
Aves -- 35
  • 94 (a)
OneToMany
-- 35
  • 93 (a)
OneToMany
KCMF1 34
  • 90.03 (n)
lizard
(Anolis carolinensis)
Reptilia KCMF1 35
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.810 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.7328 34
zebrafish
(Danio rerio)
Actinopterygii kcmf1 34 35
  • 78.04 (n)
zgc64160 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12246 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002670 34
  • 54.78 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11984 35
  • 36 (a)
OneToMany
CG3526 35
  • 32 (a)
OneToMany
CG31835 35
  • 23 (a)
OneToMany
CG42585 35
  • 23 (a)
OneToMany
CG15286 35
  • 18 (a)
OneToMany
CG31642 35
  • 13 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ZK652.6 35
  • 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)

Paralogs for KCMF1 Gene

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

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 Sequence Context AA Info Type
rs1000039784 -- 85,002,290(+) AAACC(C/T)TTTCA intron-variant
rs1000041196 -- 85,000,034(+) AAAAA(A/G)AAAGA intron-variant
rs1000170923 -- 84,985,843(+) AAACC(C/G)TTGGG intron-variant
rs1000228379 -- 85,042,146(+) CTGCA(A/C)ACTGT intron-variant
rs1000243193 -- 84,976,667(+) TTTCA(A/G)GTAGA 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)

Relevant External Links for KCMF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCMF1

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

Disorders for KCMF1 Gene

Relevant External Links for KCMF1

Genetic Association Database (GAD)
KCMF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCMF1

No disorders were found for KCMF1 Gene.

No data available for MalaCards , 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 J.-H. (FEBS Lett. 2004) 3 4 22 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3 64
  4. 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 J.H. … Raught B. (Mol. Cell Proteomics 2015) 3 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for KCMF1 Gene

Sources for KCMF1 Gene

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