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

Gene ID: 56888, updated on 18-Sep-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
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Genomic context

See KCMF1 in Genome Data Viewer
Location:
2p11.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (84971161..85059472)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (84972983..85061380)
RS_2024_09 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 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
 
located_in late endosome IEA
Inferred from Electronic Annotation
more info
 
located_in lysosome IEA
Inferred from Electronic Annotation
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)

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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_2024_08

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