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PSPN persephin [ Homo sapiens (human) ]

Gene ID: 5623, updated on 18-Aug-2020

Summary

Official Symbol
PSPNprovided by HGNC
Official Full Name
persephinprovided by HGNC
Primary source
HGNC:HGNC:9579
See related
Ensembl:ENSG00000125650 MIM:602921
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
PSP
Summary
This gene encodes a secreted ligand of the GDNF (glial cell line-derived neurotrophic factor) subfamily and TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein signals through the RET receptor tyrosine kinase and a GPI-linked coreceptor, and promotes survival of neuronal populations. This protein may play a role in cell death, and nervous system development and function. Elevated expression of this gene has been observed in oral squamous cell carcinoma. [provided by RefSeq, Aug 2016]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See PSPN in Genome Data Viewer
Location:
19p13.3
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (6375148..6375916, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (6375305..6375860, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene alkaline ceramidase 1 Neighboring gene caseinolytic mitochondrial matrix peptidase proteolytic subunit Neighboring gene alkB homolog 7 Neighboring gene general transcription factor IIF subunit 1 Neighboring gene microRNA 6885 Neighboring gene microRNA 6790

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
glial cell-derived neurotrophic factor receptor binding IEA
Inferred from Electronic Annotation
more info
 
growth factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
receptor tyrosine kinase binding IEA
Inferred from Electronic Annotation
more info
 
signaling receptor binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
more info
 
axon guidance TAS
Traceable Author Statement
more info
 
central nervous system development TAS
Traceable Author Statement
more info
PubMed 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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_004158.4NP_004149.1  persephin preproprotein

    See identical proteins and their annotated locations for NP_004149.1

    Status: REVIEWED

    Source sequence(s)
    AC011491, AF040962, BU609071
    Consensus CDS
    CCDS12164.1
    UniProtKB/Swiss-Prot
    O60542
    Related
    ENSP00000245810.1, ENST00000245810.1
    Conserved Domains (1) summary
    pfam00019
    Location:64154
    TGF_beta; Transforming growth factor beta like domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    6375148..6375916 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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