KCMF1 (potassium channel modulatory factor 1)

2009-07-01   Roshan Mandrawalia  , Ranjan Tamuli  

Department of Biotechnology, Indian Institute of Technology Guwahati, Guwahati-781 039, Assam, India

Identity

HGNC
KCMF1
LOCATION
2p11.2
LOCUSID
56888
ALIAS
DEBT91,FIGC,PCMF,ZZZ1
FUSION GENES
Show Gene Fusions

DNA/RNA

Atlas Image

Description

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

Proteins

Atlas Image

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 name
    Ewings 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 name
    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.

    Article Bibliography

    Pubmed IDLast YearTitleAuthors
    155816092004FIGC, a novel FGF-induced ubiquitin-protein ligase in gastric cancers.Jang JH et al
    163148312006Suppression of KCMF1 by constitutive high CD99 expression is involved in the migratory ability of Ewing's sarcoma cells.Kreppel M et al
    128100642003Debt91, a putative zinc finger protein differentially expressed during epithelial morphogenesis.Li Z et al

    Other Information

    Locus ID:

    NCBI: 56888
    MIM: 614719
    HGNC: 20589
    Ensembl: ENSG00000176407

    Variants:

    dbSNP: 56888
    ClinVar: 56888
    TCGA: ENSG00000176407
    COSMIC: KCMF1

    RNA/Proteins

    Gene IDTranscript IDUniprot
    ENSG00000176407ENST00000409785Q9P0J7
    ENSG00000176407ENST00000428691C9JSW5
    ENSG00000176407ENST00000453448C9J3I2
    ENSG00000176407ENST00000456682A0A1D5RMQ3

    Expression (GTEx)

    0
    5
    10
    15
    20
    25
    30
    35
    Adipose - Subcutaneous
    Adipose - Visceral
    Adrenal Gland
    Artery - Aorta
    Artery - Tibial
    Bladder
    Brain - Amygdala
    Brain - Anterior cingulate cortex
    Brain - Caudate
    Brain - Cerebellar Hemisphere
    Brain - Cerebellum
    Brain - Cortex
    Brain - Frontal Cortex
    Brain - Hippocampus
    Brain - Hypothalamus
    Brain - Nucleus accumbens
    Brain - Putamen
    Brain - Spinal cord
    Brain - Substantia nigra
    Breast - Mammary Tissue
    Cells - Cultured fibroblasts
    Cells - EBV - transformed lymphocytes
    Cervix - Ectocervix
    Cervix - Endocervix
    Colon - Sigmoid
    Colon - Transverse
    Esophagus - Gastroesophageal Junction
    Esophagus - Mucosa
    Esophagus - Muscularis
    Fallopian Tube
    Heart - Atrial Appendage
    Heart - Left Ventricle
    Kidney - Cortex
    Kidney - Medulla
    Liver
    Lung
    Minor Salivary Gland
    Muscle - Skeletal
    Nerve - Tibial
    Ovary
    Pancreas
    Pituitary
    Prostate
    Skin - Not Sun Exposed
    Skin - Sun Exposed
    Small Intestine - Terminal Ileum
    Spleen
    Stomach
    Testis
    Thyroid
    Uterus
    Vagina
    Whole Blood

    Pathways

    PathwaySourceExternal ID
    Immune SystemREACTOMER-HSA-168256
    Innate Immune SystemREACTOMER-HSA-168249
    Neutrophil degranulationREACTOMER-HSA-6798695

    Protein levels (Protein atlas)

    Not detected
    Low
    Medium
    High
    cerebral cortex
    cerebellum
    hippocampus
    caudate
    thyroid gland
    parathyroid gland
    adrenal gland
    nasopharynx
    bronchus
    lung
    oral mucosa
    salivary gland
    esophagus
    stomach 1
    stomach 2
    duodenum
    small intestine
    colon
    rectum
    liver
    gallbladder
    pancreas
    kidney
    urinary bladder
    testis
    epididymis
    seminal vesicle
    prostate
    vagina
    ovary
    fallopian tube
    endometrium 1
    endometrium 2
    cervix, uterine
    placenta
    breast
    heart muscle
    smooth muscle
    skeletal muscle
    soft tissue 1
    soft tissue 2
    adipose tissue
    skin 1
    skin 2
    appendix
    spleen
    lymph node
    tonsil
    bone marrow

    References

    Pubmed IDYearTitleCitations
    365157492023KCMF1 regulates autophagy and ion channels' function in renal cell carcinoma: a future therapeutic target.0
    365157492023KCMF1 regulates autophagy and ion channels' function in renal cell carcinoma: a future therapeutic target.0
    350327912022CircHIPK3 contributes to human villous trophoblast growth, migration and invasion via modulating the pathway of miR-346/KCMF1.3
    350327912022CircHIPK3 contributes to human villous trophoblast growth, migration and invasion via modulating the pathway of miR-346/KCMF1.3
    255824402015KCMF1 (potassium channel modulatory factor 1) Links RAD6 to UBR4 (ubiquitin N-recognin domain-containing E3 ligase 4) and lysosome-mediated degradation.19
    255824402015KCMF1 (potassium channel modulatory factor 1) Links RAD6 to UBR4 (ubiquitin N-recognin domain-containing E3 ligase 4) and lysosome-mediated degradation.19
    249806672014MicroRNA-210 contributes to preeclampsia by downregulating potassium channel modulatory factor 1.42
    249806672014MicroRNA-210 contributes to preeclampsia by downregulating potassium channel modulatory factor 1.42
    163148312006Suppression of KCMF1 by constitutive high CD99 expression is involved in the migratory ability of Ewing's sarcoma cells.26
    163148312006Suppression of KCMF1 by constitutive high CD99 expression is involved in the migratory ability of Ewing's sarcoma cells.26
    155816092004FIGC, a novel FGF-induced ubiquitin-protein ligase in gastric cancers.16
    155816092004FIGC, a novel FGF-induced ubiquitin-protein ligase in gastric cancers.16

    Citation

    Roshan Mandrawalia ; Ranjan Tamuli

    KCMF1 (potassium channel modulatory factor 1)

    Atlas Genet Cytogenet Oncol Haematol. 2009-07-01

    Online version: http://atlasgeneticsoncology.org/gene/46364/kcmf1-(potassium-channel-modulatory-factor-1)