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KCMF1 (potassium channel modulatory factor 1)

Identity

Other namesDEBT91
DKFZP434L1021
FIGC
PCMF
ZZZ1
HGNC (Hugo) KCMF1
LocusID (NCBI) 56888
Location 2p11.2
Location_base_pair Starts at 85198231 and ends at 85286595 bp from pter ( according to hg19-Feb_2009)  [Mapping]

DNA/RNA

 
Description DNA size 87.29 kb, mRNA size 7555 bp, 7 exons.

Protein

 
Description 381 amino acids; 41.945 kDa protein.
KCMF1 protein contains ring finger (Zinc finger, ZZ-type) 3-50 (48), zinc finger (C2H2-type) 78-101 (23), nuclear localization signal (NLS) 152-168 (17), and a coiled coil domain 225-257 (33).

Isoforms:
Two isoforms that predicted to encode proteins containing the zinc finger domain have been identified; other isoforms are relatively shorter and not well defined.

  • Isoform bApr07: This partial mRNA is 625 bp long. It is reconstructed from a myeloma cDNA clone. The pre-messenger RNA has 5 exons and covers 74.08 kb. The predicted partial protein has 208 aa (22.9 kDa, pI 5.8) and a very good coding score (7). It contains one Zinc finger, ZZ-type domain, one zinc finger, C2H2-type domain.
  • Isoform dApr07: The dApr07 mRNA variant is 431 bp long. It is reconstructed from a testis cDNA clone. The pre-mRNA has 4 exons and covers 12.72 kb. The predicted partial protein has 143 aa (15.7 kDa, pI 7.2) and a very good coding score (5). It contains one zinc finger, C2H2-type domain.
    • Expression Ubiquitously expressed. High level of expression is in pharynx, thyroid, respiratory tract and larynx; less expressed in female system, uterus and cervix.
    Localisation Nuclear.
    Function KCMF1 is a transcription factor. Basic functions of the KCMF1 gene are (i) early gene up-regulation during growth factor-induced branching tubulogenesis, (ii) ubiquitination through intrinsic E3 ubiquitin ligase activity, and (iii) a possible role in ion channel activity.
    Homology The percent identity below represents identity of KCMF1 over an aligned region in UniGene.
    Pan troglodytes: 97 (Percentage Identity)
    Canis lupas familiaris: 91
    Bos Taurus: 90
    Mus musculus: 96
    Gallus gallus: 93
    Danio rerio: 85.

    Implicated in

    Entity Ewing's sarcoma family of tumors (ESFT)
    Note KCMF1 is down regulated by high constitutive CD99 (a cell surface glycoprotein) expression in ESFT. KCMF1 expression is inversely correlated with CD99 expression, as seen in a series of 22 primary ESFT. High CD99 expression levels contribute to the malignant properties of ESFT by promoting growth and migration of tumor cells.
      
    Entity Gastric cancer
    Note KCMF1 (also known as FIGC) encode a RING finger protein, has intrinsic E3 ubiquitin ligase activity and promotes ubiquitination. KCMF1 contains a novel C6H2-type RING finger domain at the NH2-terminal region, consensus sequence CX2C(7-11) CX2CXA5CX2CX(5-9) HX (1-3) H (XA: acidic residues). Using differential display approach with basic fibroblast growth factor (b-FGF) inducible genes in gastric cancer cells, it was observed that FIGC upregulation in response to bFGF in gastric cancer. This suggests that FIGC might be implicated in gastric carcinogenesis through dysregulation of growth modulator.
      

    External links

    Nomenclature
    HGNC (Hugo)KCMF1   20589
    Entrez_Gene (NCBI)KCMF1  56888  potassium channel modulatory factor 1
    Cards
    AtlasKCMF1ID46364ch2p11
    GeneCards (Weizmann)KCMF1
    Ensembl (Hinxton)ENSG00000176407 [Gene_View]  chr2:85198231-85286595 [Contig_View]  KCMF1 [Vega]
    AceView (NCBI)KCMF1
    Genatlas (Paris)KCMF1
    SOURCE (Stanford)NM_020122
    Genomic and cartography
    GoldenPath (UCSC)KCMF1  -  2p11.2   chr2:85198231-85286595 +  2p11.2   [Description]    (hg19-Feb_2009)
    EnsemblKCMF1 - 2p11.2 [CytoView]
    Mapping of homologs : NCBIKCMF1 [Mapview]
    OMIM614719   
    Gene and transcription
    Genbank (Entrez)AB083199 AF131740 AF155652 AK023403 AK311099
    RefSeq transcript (SRS)NM_020122
    RefSeq transcript (Entrez)NM_020122
    RefSeq genomic (SRS)AC_000134 NC_000002 NC_018913 NT_022184 NW_001838769 NW_004078005
    RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NT_022184 NW_001838769 NW_004078005
    Consensus coding sequences : CCDS (NCBI)KCMF1
    Cluster EST : UnigeneHs.654968 [ SRS ] Hs.654968 [ NCBI ]
    CGAP (NCI)Hs.654968
    Alternative Splicing : Fast-db (Paris)GSHG0016615
    Alternative Splicing GalleryENSG00000176407
    Gene ExpressionKCMF1 [ NCBI-GEO ]   KCMF1 [ EBI - ARRAY_EXPRESS ]
    Protein : pattern, domain, 3D structure
    UniProt/SwissProtQ9P0J7 (SRS) Q9P0J7 (Uniprot)
    NextProtQ9P0J7
    With graphics : InterProQ9P0J7
    Splice isoforms : SwissVarQ9P0J7(Swissvar)
    Domaine pattern : Prosite (SRS)ZF_ZZ_1 (PS01357)    ZF_ZZ_2 (PS50135)    ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
    Domaine pattern : Prosite (Expaxy)ZF_ZZ_1 (PS01357)    ZF_ZZ_2 (PS50135)    ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
    Domains : Interpro (SRS)Di19_RING_finger_144    Znf_C2H2    Znf_C2H2-like    Znf_ZZ   
    Domains : Interpro (EBI)Di19_RING_finger_144    Znf_C2H2    Znf_C2H2-like    Znf_ZZ   
    Related proteins : CluSTrQ9P0J7
    Domain families : Pfam (SRS)Di19 (PF05605)    ZZ (PF00569)   
    Domain families : Pfam (Sanger)Di19 (PF05605)    ZZ (PF00569)   
    Domain families : Pfam (NCBI)pfam05605    pfam00569   
    Domain families : Smart (EMBL)ZnF_C2H2 (SM00355)  ZnF_ZZ (SM00291)  
    DMDM56888
    Blocks (Seattle)Q9P0J7
    Human Protein AtlasENSG00000176407
    HPRD13761
    IPIIPI00306661   IPI00926111   IPI00925907   IPI00925692   
    Protein Interaction databases
    DIP (DOE-UCLA)Q9P0J7
    IntAct (EBI)Q9P0J7
    FunCoupENSG00000176407
    REACTOMEKCMF1
    Protein Interaction Database56888
    BioGRIDKCMF1
    InParanoidQ9P0J7
    Interologous Interaction database Q9P0J7
    IntegromeDBKCMF1
    Polymorphism : SNP, mutations, diseases
    SNP Single Nucleotide Polymorphism (NCBI)KCMF1
    SNP (GeneSNP Utah)KCMF1
    SNP : HGBaseKCMF1
    Genetic variants : HAPMAPKCMF1
    Somatic Mutations in Cancer : COSMICKCMF1 
    CONAN: Copy Number AnalysisKCMF1 
    Mutations and Diseases : HGMDKCMF1
    OMIM614719   
    GENETests614719   
    Disease Genetic AssociationKCMF1
    Huge Navigator KCMF1 [HugePedia]  KCMF1 [HugeCancerGEM]
    Genomic VariantsKCMF1  KCMF1 [DGVbeta]
    snp3D : Map Gene to Disease56888
    General knowledge
    Homologs : HomoloGeneKCMF1
    Homology/Alignments : Family Browser (UCSC)KCMF1
    Phylogenetic Trees/Animal Genes : TreeFamKCMF1
    Catalytic activity : Enzyme6.3.2.- [ Enzyme-Expasy ]   6.3.2.- [ Enzyme-SRS ]   6.3.2.- [ IntEnz-EBI ]   6.3.2.- [ BRENDA ]   6.3.2.- [ KEGG ]   
    Chemical/Protein Interactions : CTD56888
    Chemical/Pharm GKB GenePA134967694
    Clinical trialKCMF1
    Cancer Resource (Charite)ENSG00000176407
    Ontology : AmiGOintracellular  zinc ion binding  ligase activity  metal ion binding  
    Ontology : EGO-EBIintracellular  zinc ion binding  ligase activity  metal ion binding  
    Other databases
    Other databaseMod Base
    Other databaseSNP
    Other databaseRNAi
    Other databasePhotosite
    Other databasePharma GKB
    Other databaseHPRD
    Other databaseUniversity of Paris
    Other databaseExon description
    Probes
    Litterature
    PubMed13 Pubmed reference(s) in Entrez
    PubGeneKCMF1
    iHOPKCMF1

    Bibliography

    Debt91, a putative zinc finger protein differentially expressed during epithelial morphogenesis.
    Li Z, Stuart RO, Eraly SA, Gittes G, Beier DR, Nigam SK.
    Biochem Biophys Res Commun. 2003 Jul 4;306(3):623-8.
    PMID 12810064
     
    FIGC, a novel FGF-induced ubiquitin-protein ligase in gastric cancers.
    Jang JH.
    FEBS Lett. 2004 Dec 3;578(1-2):21-5.
    PMID 15581609
     
    Suppression of KCMF1 by constitutive high CD99 expression is involved in the migratory ability of Ewing's sarcoma cells.
    Kreppel M, Aryee DN, Schaefer KL, Amann G, Kofler R, Poremba C, Kovar H.
    Oncogene. 2006 May 4;25(19):2795-800.
    PMID 16314831
     
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed

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    Contributor(s)

    Written07-2009Roshan Mandrawalia, Ranjan Tamuli
    Department of Biotechnology, Indian Institute of Technology Guwahati, Guwahati-781 039, Assam, India

    Citation

    This paper should be referenced as such :
    Mandrawalia R, Tamuli R . KCMF1 (potassium channel modulatory factor 1). Atlas Genet Cytogenet Oncol Haematol. July 2009 .
    URL : http://AtlasGeneticsOncology.org/Genes/KCMF1ID46364ch2p11.html

    This paper is referenced by INIST as such :
    http://documents.irevues.inist.fr/bitstream/2042/44777/1/07-2009-KCMF1ID46364ch2p11.pdf   [ Bibliographic record ]

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    indexed on : Wed May 1 12:51:17 CEST 2013
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