PPP4R3C protein phosphatase 4 regulatory subunit 3C [Homo sapiens (human)] - Gene

Summary

Official Symbol: PPP4R3Cprovided by HGNC
Official Full Name: protein phosphatase 4 regulatory subunit 3Cprovided by HGNC
Primary source: HGNC:HGNC:33146
See related: Ensembl:ENSG00000224960 AllianceGenome:HGNC:33146
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: smk1; FLFL3P; SMEK3P; PPP4R3CP
Summary: Predicted to enable protein phosphatase activator activity. Predicted to be involved in DNA damage response. Predicted to be part of protein phosphatase 4 complex. Predicted to be active in nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: Xp21.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (27460207..27463341, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (27050535..27053669, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (27478324..27481458, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Phenotypes

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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)

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein phosphatase activator activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in DNA damage response	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of double-strand break repair	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
part_of protein phosphatase 4 complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: protein PPP4R3C

Names: Putative SMEK homolog 3; SMEK homolog 3, suppressor of mek1 pseudogene; Serine/threonine-protein phosphatase 4 regulatory subunit 3C pseudogene; protein phosphatase 4 regulatory subunit 3C, pseudogene

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_207319.4 → NP_997202.3 protein PPP4R3C

Status: VALIDATED

Source sequence(s)

AC006210

Consensus CDS

CCDS87732.1

UniProtKB/Swiss-Prot

A0A1B0GTN1, Q6ZMV5, Q96M31

Related

ENSP00000489770.1, ENST00000412172.4

Conserved Domains (1) summary

pfam04802
Location:168 → 359

SMK-1; Component of IIS longevity pathway SMK-1