PPP1R35 protein phosphatase 1 regulatory subunit 35 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PPP1R35provided by HGNC
Official Full Name: protein phosphatase 1 regulatory subunit 35provided by HGNC
Primary source: HGNC:HGNC:28320
See related: Ensembl:ENSG00000160813 MIM:618937; AllianceGenome:HGNC:28320
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: C7orf47
Summary: Predicted to enable phosphatase binding activity and protein phosphatase inhibitor activity. Involved in positive regulation of centriole elongation. Located in centriole and centrosome. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in testis (RPKM 18.3), spleen (RPKM 14.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q22.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (100435282..100436698, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (101675360..101676755, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (100032905..100034120, complement)

Chromosome 7 - NC_000007.14 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 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?

Authors found that PPP1R35 is enriched at newborn daughter centrioles in S or G2 phase. In the absence of PPP1R35, centriole assembly initiates normally in S phase, but none of the nascent centrioles can form active centrosomes or recruit CEP295, an essential factor for CCC.
Title: PPP1R35 ensures centriole homeostasis by promoting centriole-to-centrosome conversion.
Data show that PPP1R35 acts downstream of, and forms a complex with, RTTN, a microcephaly protein required for distal centriole elongation.
Title: PPP1R35 is a novel centrosomal protein that regulates centriole length in concert with the microcephaly protein RTTN.

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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

D7S3095 (e-PCR)
- UniSTS:186664

G33029 (e-PCR)
- UniSTS:117606

A009Z42 (e-PCR)
- UniSTS:60408

RH103200 (e-PCR)
- UniSTS:97533

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phosphatase binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase inhibitor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in notochord morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of centriole elongation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of centriole elongation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cilium assembly	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in centriole	IBA Inferred from Biological aspect of Ancestor more info
located_in centriole	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein phosphatase 1 regulatory subunit 35

Names: UPF0683 protein C7orf47

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_001346938.2 → NP_001333867.1 protein phosphatase 1 regulatory subunit 35 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AC092849
NM_145030.4 → NP_659467.1 protein phosphatase 1 regulatory subunit 35 isoform 1

See identical proteins and their annotated locations for NP_659467.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC092849, AI433518, BC026269, BI752874

Consensus CDS

CCDS5694.1

UniProtKB/Swiss-Prot

A4D2C5, Q8TAP8

Related

ENSP00000292330.2, ENST00000292330.3

Conserved Domains (1) summary

pfam15503
Location:104 → 248

PPP1R35_C; Protein phosphatase 1 regulatory subunit 35 C-terminus

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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

100435282..100436698 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011515914.2 → XP_011514216.1 protein phosphatase 1 regulatory subunit 35 isoform X1

Conserved Domains (1) summary

pfam15503
Location:34 → 178

PPP1R35_C; Protein phosphatase 1 regulatory subunit 35 C-terminus