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    KCMF1 potassium channel modulatory factor 1 [ Homo sapiens (human) ]

    Gene ID: 56888, updated on 5-May-2024

    Summary

    Official Symbol
    KCMF1provided by HGNC
    Official Full Name
    potassium channel modulatory factor 1provided by HGNC
    Primary source
    HGNC:HGNC:20589
    See related
    Ensembl:ENSG00000176407 MIM:614719; AllianceGenome:HGNC:20589
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FIGC; PCMF; ZZZ1; DEBT91
    Summary
    Enables ubiquitin protein ligase activity. Predicted to be involved in synaptic signaling. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 9.7), thyroid (RPKM 7.1) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    2p11.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (84971161..85059472)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (84972983..85061380)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (85198284..85286595)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374836 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11689 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:85133043-85134242 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11690 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:85146489-85147688 Neighboring gene thymosin beta 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16107 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85153187-85153848 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16109 Neighboring gene ribosomal protein S2 pseudogene 17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16110 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16111 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16113 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85184893-85185581 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85185582-85186272 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85186273-85186962 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:85186963-85187652 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16114 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11692 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11693 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85201557-85202098 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85202099-85202640 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85250397-85251081 Neighboring gene long intergenic non-protein coding RNA 1964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85304907-85305408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85305409-85305908 Neighboring gene LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated pseudogene 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp434L1021

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase KCMF1
    Names
    FGF-induced in gastric cancer
    FGF-induced ubiquitin-protein ligase in gastric cancers
    RING-type E3 ubiquitin transferase KCMF1
    ZZ-type zinc finger-containing protein 1
    differentially expressed in branching tubulogenesis 91
    zinc finger, ZZ domain containing 1
    NP_064507.3
    XP_006712115.1
    XP_047301082.1
    XP_054199024.1
    XP_054199025.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_020122.5NP_064507.3  E3 ubiquitin-protein ligase KCMF1

      See identical proteins and their annotated locations for NP_064507.3

      Status: VALIDATED

      Source sequence(s)
      AC078974, AK023403, AW466865, CT004343
      Consensus CDS
      CCDS46350.1
      UniProtKB/Swiss-Prot
      Q4ZG04, Q53SC7, Q9BWK2, Q9H8P5, Q9P0J7, Q9UFE8
      Related
      ENSP00000386738.3, ENST00000409785.9
      Conserved Domains (2) summary
      cd02338
      Location:755
      ZZ_PCMF_like; Zinc finger, ZZ type. Zinc finger present in potassium channel modulatory factor (PCMF) 1 and related proteins. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Human potassium channel ...
      pfam05605
      Location:76137
      zf-Di19; Drought induced 19 protein (Di19), zinc-binding

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      84971161..85059472
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445126.1XP_047301082.1  E3 ubiquitin-protein ligase KCMF1 isoform X1

    2. XM_006712052.4XP_006712115.1  E3 ubiquitin-protein ligase KCMF1 isoform X2

      Conserved Domains (3) summary
      cd02338
      Location:1563
      ZZ_PCMF_like; Zinc finger, ZZ type. Zinc finger present in potassium channel modulatory factor (PCMF) 1 and related proteins. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Human potassium channel ...
      pfam05605
      Location:84145
      zf-Di19; Drought induced 19 protein (Di19), zinc-binding
      pfam14571
      Location:288336
      Di19_C; Stress-induced protein Di19, C-terminal

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      84972983..85061380
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343049.1XP_054199024.1  E3 ubiquitin-protein ligase KCMF1 isoform X1

    2. XM_054343050.1XP_054199025.1  E3 ubiquitin-protein ligase KCMF1 isoform X2