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

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: mouse all
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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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

KCMF1 regulates autophagy and ion channels' function in renal cell carcinoma: a future therapeutic target.
Title: KCMF1 regulates autophagy and ion channels' function in renal cell carcinoma: a future therapeutic target.
CircHIPK3 contributes to human villous trophoblast growth, migration and invasion via modulating the pathway of miR-346/KCMF1.
Title: CircHIPK3 contributes to human villous trophoblast growth, migration and invasion via modulating the pathway of miR-346/KCMF1.
Results showed KCMF1 C-terminus binds directly to RAD6, whereas N-terminal domains interact with UBR4 and point mutations found in X-linked intellectual disability (XLID) patients specifically lose the interaction with KCMF1 and UBR4.
Title: KCMF1 (potassium channel modulatory factor 1) Links RAD6 to UBR4 (ubiquitin N-recognin domain-containing E3 ligase 4) and lysosome-mediated degradation.
Data indicate that expressions of miR-210 and potassium channel modulatory factor 1 (KCMF1) exhibited an inverse correlation in placentas from patients with severe preeclampsia.
Title: MicroRNA-210 contributes to preeclampsia by downregulating potassium channel modulatory factor 1.
Data indicate that FIGC upregulation in response to basic fibroblast growth factor in gastric cancer might be implicated in carcinogenesis through dysregulation of growth modulator.
Title: FIGC, a novel FGF-induced ubiquitin-protein ligase in gastric cancers.
Suppression of KCMF1 by constitutive high CD99 expression levels contribute to the malignant properties of Ewing's sarcoma by promoting growth and migration of tumor cells
Title: Suppression of KCMF1 by constitutive high CD99 expression is involved in the migratory ability of Ewing's sarcoma cells.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

RH93342 (e-PCR)
- UniSTS:84526

D8S2279 (e-PCR)
- UniSTS:473907

L17709 (e-PCR)
- UniSTS:42599

D1S1423 (e-PCR)
- UniSTS:149619

RH36905 (e-PCR)
- UniSTS:87932

RH11910 (e-PCR)
- UniSTS:57988

RH103646 (e-PCR)
- UniSTS:97971

KCMF1_3657 (e-PCR)
- UniSTS:462288

D2S1877 (e-PCR)
- UniSTS:153569

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

Process	Evidence Code	Pubs
involved_in synaptic signaling	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
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

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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

EC 2.3.2.27

XP_006712115.1

EC 2.3.2.27

XP_047301082.1

EC 2.3.2.27

XP_054199024.1

EC 2.3.2.27

XP_054199025.1

EC 2.3.2.27

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)

NM_020122.5 → NP_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:7 → 55

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:76 → 137

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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

84971161..85059472

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047445126.1 → XP_047301082.1 E3 ubiquitin-protein ligase KCMF1 isoform X1
XM_006712052.4 → XP_006712115.1 E3 ubiquitin-protein ligase KCMF1 isoform X2

Conserved Domains (3) summary

cd02338
Location:15 → 63

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:84 → 145

zf-Di19; Drought induced 19 protein (Di19), zinc-binding

pfam14571
Location:288 → 336

Di19_C; Stress-induced protein Di19, C-terminal