PPAN peter pan homolog [Homo sapiens (human)] - Gene

Summary

Official Symbol: PPANprovided by HGNC
Official Full Name: peter pan homologprovided by HGNC
Primary source: HGNC:HGNC:9227
See related: Ensembl:ENSG00000130810 MIM:607793; AllianceGenome:HGNC:9227
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SSF; SSF1; SSF2; BXDC3; SSF-1
Summary: The protein encoded by this gene is an evolutionarily conserved protein similar to yeast SSF1 as well as to the gene product of the Drosophila gene peter pan (ppan). SSF1 is known to be involved in the second step of mRNA splicing. Both SSF1 and ppan are essential for cell growth and proliferation. Exogenous expression of this gene was reported to reduce the anchorage-independent growth of some tumor cells. Read-through transcription of this gene with P2RY11/P2Y(11), an adjacent downstream gene that encodes an ATP receptor, has been found. These read-through transcripts are ubiquitously present and up-regulated during granulocyte differentiation. [provided by RefSeq, Nov 2010]
Expression: Ubiquitous expression in appendix (RPKM 9.7), spleen (RPKM 9.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (10106223..10112012)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (10232432..10238221)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (10216899..10222688)

Chromosome 19 - NC_000019.10 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?

An SNP reducing SNORD105 and PPAN expression decreases the risk of hepatocellular carcinoma in a Chinese population.
Title: An SNP reducing SNORD105 and PPAN expression decreases the risk of hepatocellular carcinoma in a Chinese population.
The study uncovers that PPAN knockdown is linked to mitochondrial damage and stimulates autophagy.
Title: Loss of Peter Pan (PPAN) Affects Mitochondrial Homeostasis and Autophagic Flux.
data underline the notion that the PPAN-mediated, p53-independent nucleolar stress response has multiple facets.
Title: Loss of Peter Pan protein is associated with cell cycle defects and apoptotic events.
a novel nucleolar stress-response pathway involving PPAN, NPM, and BAX to guarantee cell survival in a p53-independent manner.
Title: The Wnt Target Protein Peter Pan Defines a Novel p53-independent Nucleolar Stress-Response Pathway.
The functional analysis of the Drosophila homolog. [LH]
Title: Cloning and characterization of peter pan, a novel Drosophila gene required for larval growth.

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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

EBI GWAS Catalog

Description
Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	HIV-1 Rev interacting protein, peter pan homolog (PPAN), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with PPAN is increased by RRE	PubMed
nucleocapsid	gag	HIV-1 NC downregulates peter pan homolog (Drosophila) in HEK 293T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Readthrough PPAN-P2RY11

Readthrough gene: PPAN-P2RY11, Included gene: P2RY11

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables rRNA binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA Inferred from Biological aspect of Ancestor more info
involved_in rRNA processing	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of preribosome, large subunit precursor	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: suppressor of SWI4 1 homolog

Names: brix domain-containing protein 3; homolog of S. cerevisiae SSF1; second-step splicing factor 1; suppressor of sterile four 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.

Genomic

NG_051640.1 RefSeqGene

Range

5140..10790

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001346139.1 → NP_001333068.1 suppressor of SWI4 1 homolog isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.

Source sequence(s)

AC020931
NM_001346141.1 → NP_001333070.1 suppressor of SWI4 1 homolog isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (4) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AC020931

Consensus CDS

CCDS86698.1

UniProtKB/TrEMBL

A8MV53

Related

ENSP00000377382.1, ENST00000393793.5
NM_020230.7 → NP_064615.3 suppressor of SWI4 1 homolog isoform 1

See identical proteins and their annotated locations for NP_064615.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC020931, BC033202

Consensus CDS

CCDS12225.1

UniProtKB/Swiss-Prot

C9J3F9, Q9BW97, Q9NQ55

Related

ENSP00000253107.7, ENST00000253107.12

Conserved Domains (2) summary

smart00879
Location:32 → 201

Brix; The Brix domain is found in a number of eukaryotic proteins

cl00935
Location:270 → 341

Brix; Brix domain