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    PSPN persephin [ Homo sapiens (human) ]

    Gene ID: 5623, updated on 28-Oct-2024

    Summary

    Official Symbol
    PSPNprovided by HGNC
    Official Full Name
    persephinprovided by HGNC
    Primary source
    HGNC:HGNC:9579
    See related
    Ensembl:ENSG00000125650 MIM:602921; AllianceGenome:HGNC:9579
    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
    NEW
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    Genomic context

    See PSPN in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (6375148..6375933, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (6364050..6364835, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (6375159..6375944, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene alkaline ceramidase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9948 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:6362217-6363174 Neighboring gene caseinolytic mitochondrial matrix peptidase proteolytic subunit Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:6372537-6373459 Neighboring gene alkB homolog 7 Neighboring gene general transcription factor IIF subunit 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6387043-6387543 Neighboring gene microRNA 6885 Neighboring gene microRNA 6790

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_004158.5NP_004149.1  persephin preproprotein

      See identical proteins and their annotated locations for NP_004149.1

      Status: REVIEWED

      Source sequence(s)
      AC011491
      Consensus CDS
      CCDS12164.1
      UniProtKB/Swiss-Prot
      O60542
      Related
      ENSP00000245810.1, ENST00000245810.2
      Conserved Domains (1) summary
      pfam00019
      Location:64154
      TGF_beta; Transforming growth factor beta like domain

    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

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      6375148..6375933 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      6364050..6364835 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)