LOCUS       NM_004158                701 bp    mRNA    linear   PRI 17-APR-2022
DEFINITION  Homo sapiens persephin (PSPN), mRNA.
ACCESSION   NM_004158
VERSION     NM_004158.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 701)
  AUTHORS   Baba T, Sakamoto Y, Kasamatsu A, Minakawa Y, Yokota S, Higo M,
            Yokoe H, Ogawara K, Shiiba M, Tanzawa H and Uzawa K.
  TITLE     Persephin: A potential key component in human oral cancer
            progression through the RET receptor tyrosine
            kinase-mitogen-activated protein kinase signaling pathway
  JOURNAL   Mol Carcinog 54 (8), 608-617 (2015)
   PUBMED   24375483
  REMARK    GeneRIF: Results suggested that PSPN is a possible key regulator of
            oral squamous cell carcinoma (OSCC) progression via
            PSPN-RET-mitogen-activated protein kinase activation and that PSPN
            overexpression may have diagnostic potential for OSCC.
REFERENCE   2  (bases 1 to 701)
  AUTHORS   Sidorova YA, Matlik K, Paveliev M, Lindahl M, Piranen E, Milbrandt
            J, Arumae U, Saarma M and Bespalov MM.
  TITLE     Persephin signaling through GFRalpha1: the potential for the
            treatment of Parkinson's disease
  JOURNAL   Mol Cell Neurosci 44 (3), 223-232 (2010)
   PUBMED   20350599
  REMARK    GeneRIF: Results identify persephin, a GDNF family member, as a
            novel ligand for GFRalpha1/RET receptor complex.
REFERENCE   3  (bases 1 to 701)
  AUTHORS   Fernandez RM, Ruiz-Ferrer M, Lopez-Alonso M, Antinolo G and Borrego
            S.
  TITLE     Polymorphisms in the genes encoding the 4 RET ligands, GDNF, NTN,
            ARTN, PSPN, and susceptibility to Hirschsprung disease
  JOURNAL   J Pediatr Surg 43 (11), 2042-2047 (2008)
   PUBMED   18970938
  REMARK    GeneRIF: No differences were found in the allelic frequencies of
            the variants or in the haplotype distribution between
            Hirschsprung's disease patients & controls, nor to any
            demographic/clinical parameters within the group of patients.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 701)
  AUTHORS   Quartu M, Serra MP, Manca A, Mascia F, Follesa P and Del Fiacco M.
  TITLE     Neurturin, persephin, and artemin in the human pre- and full-term
            newborn and adult hippocampus and fascia dentata
  JOURNAL   Brain Res 1041 (2), 157-166 (2005)
   PUBMED   15829225
  REMARK    GeneRIF: The results obtained suggest the involvement of NTN, PSP,
            and ART in processes subserving both the organization of this
            cortical region during development and the functional activity and
            maintenance of the mature human hippocampal neurons.
REFERENCE   5  (bases 1 to 701)
  AUTHORS   Yang J, Lindahl M, Lindholm P, Virtanen H, Coffey E, Runeberg-Roos
            P and Saarma M.
  TITLE     PSPN/GFRalpha4 has a significantly weaker capacity than
            GDNF/GFRalpha1 to recruit RET to rafts, but promotes neuronal
            survival and neurite outgrowth
  JOURNAL   FEBS Lett 569 (1-3), 267-271 (2004)
   PUBMED   15225646
  REMARK    GeneRIF: Persephin/GFRalpha4 is unable to recruit RET protein into
            lipid rafts.
REFERENCE   6  (bases 1 to 701)
  AUTHORS   Lindahl M, Poteryaev D, Yu L, Arumae U, Timmusk T, Bongarzone I,
            Aiello A, Pierotti MA, Airaksinen MS and Saarma M.
  TITLE     Human glial cell line-derived neurotrophic factor receptor alpha 4
            is the receptor for persephin and is predominantly expressed in
            normal and malignant thyroid medullary cells
  JOURNAL   J Biol Chem 276 (12), 9344-9351 (2001)
   PUBMED   11116144
REFERENCE   7  (bases 1 to 701)
  AUTHORS   Widenfalk J, Widmer HR and Spenger C.
  TITLE     GDNF, RET and GFRalpha-1-3 mRNA expression in the developing human
            spinal cord and ganglia
  JOURNAL   Neuroreport 10 (7), 1433-1439 (1999)
   PUBMED   10380959
REFERENCE   8  (bases 1 to 701)
  AUTHORS   Enokido Y, de Sauvage F, Hongo JA, Ninkina N, Rosenthal A, Buchman
            VL and Davies AM.
  TITLE     GFR alpha-4 and the tyrosine kinase Ret form a functional receptor
            complex for persephin
  JOURNAL   Curr Biol 8 (18), 1019-1022 (1998)
   PUBMED   9740802
REFERENCE   9  (bases 1 to 701)
  AUTHORS   Milbrandt J, de Sauvage FJ, Fahrner TJ, Baloh RH, Leitner ML,
            Tansey MG, Lampe PA, Heuckeroth RO, Kotzbauer PT, Simburger KS,
            Golden JP, Davies JA, Vejsada R, Kato AC, Hynes M, Sherman D,
            Nishimura M, Wang LC, Vandlen R, Moffat B, Klein RD, Poulsen K,
            Gray C, Garces A, Johnson EM Jr et al.
  TITLE     Persephin, a novel neurotrophic factor related to GDNF and
            neurturin
  JOURNAL   Neuron 20 (2), 245-253 (1998)
   PUBMED   9491986
REFERENCE   10 (bases 1 to 701)
  AUTHORS   Chadwick BP, Helbling LA, Angrist M, Chakravarti A, Gusella JF and
            Slaugenhaupt SA.
  TITLE     Assignment of persephin (PSPN), a human neurotrophic factor, to
            chromosome 19p13.3 by radiation hybrid mapping and somatic cell
            hybrid PCR
  JOURNAL   Cytogenet Cell Genet 83 (3-4), 236-237 (1998)
   PUBMED   10072588
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011491.7.
            
            On Jan 7, 2021 this sequence version replaced NM_004158.4.
            
            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].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF040962.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000245810.2/ ENSP00000245810.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-232               AC011491.7         77220-77451         c
            233-701             AC011491.7         76666-77134         c
FEATURES             Location/Qualifiers
     source          1..701
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..701
                     /gene="PSPN"
                     /gene_synonym="PSP"
                     /note="persephin"
                     /db_xref="GeneID:5623"
                     /db_xref="HGNC:HGNC:9579"
                     /db_xref="MIM:602921"
     exon            1..232
                     /gene="PSPN"
                     /gene_synonym="PSP"
                     /inference="alignment:Splign:2.1.0"
     CDS             85..555
                     /gene="PSPN"
                     /gene_synonym="PSP"
                     /codon_start=1
                     /product="persephin preproprotein"
                     /protein_id="NP_004149.1"
                     /db_xref="CCDS:CCDS12164.1"
                     /db_xref="GeneID:5623"
                     /db_xref="HGNC:HGNC:9579"
                     /db_xref="MIM:602921"
                     /translation="MAVGKFLLGSLLLLSLQLGQGWGPDARGVPVADGEFSSEQVAKA
                     GGTWLGTHRPLARLRRALSGPCQLWSLTLSVAELGLGYASEEKVIFRYCAGSCPRGAR
                     TQHGLALARLQGQGRAHGGPCCRPTRYTDVAFLDDRHRWQRLPQLSAAACGCGG"
     exon            233..701
                     /gene="PSPN"
                     /gene_synonym="PSP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      678..683
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PSPN"
                     /gene_synonym="PSP"
                     /note="hexamer: AATAAA"
     polyA_site      701
                     /gene="PSPN"
                     /gene_synonym="PSP"
                     /note="major polyA site"
ORIGIN      
        1 gccggcagtg aagaggttag ctcccagccc aggcagggca taaatttggg gcacagctcc
       61 cactctcagg acctgcccgt cacaatggcc gtagggaagt tcctgctggg ctccctgctg
      121 ctcctgtccc tgcagctggg acagggctgg ggccccgatg cccgtggggt tcccgtggcc
      181 gatggagagt tctcgtctga acaggtggca aaggctggag ggacctggct gggcacccac
      241 cgcccccttg cccgcctgcg ccgagccctg tctggtccat gccagctgtg gagcctgacc
      301 ctgtccgtgg cagagctagg cctgggctac gcctcagagg agaaggtcat cttccgctac
      361 tgcgccggca gctgcccccg tggtgcccgc acccagcatg gcctggcgct ggcccggctg
      421 cagggccagg gccgagccca cggcgggccc tgctgccggc ccactcgcta caccgacgtg
      481 gccttcctcg atgaccgcca ccgctggcag cggctgcccc agctctcggc ggctgcctgc
      541 ggctgtggtg gctgagggtg cccggcctgg cacccagaag ctgcagtgct gggggagctc
      601 ggctgactta tttattggag acctggatgc agagacaacg aggaggggag tgggctgggg
      661 cgaccagcag tgagtgcaat aaaggacacc actctcccgg c
//
