LOCUS       NM_002778               2748 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens prosaposin (PSAP), transcript variant 1, mRNA.
ACCESSION   NM_002778
VERSION     NM_002778.4
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 2748)
  AUTHORS   Zhu,L., Zhang,X., Guan,Y., Zhu,Y., Zhou,Q., Liu,B., Ren,H. and
            Yang,X.
  TITLE     Meta-analysis of the association of prosaposin polymorphisms
            rs4747203 and rs885828 with risk of Parkinson's disease
  JOURNAL   Acta Neurol Belg 124 (2), 573-580 (2024)
   PUBMED   38206457
  REMARK    GeneRIF: Meta-analysis of the association of prosaposin
            polymorphisms rs4747203 and rs885828 with risk of Parkinson's
            disease.
REFERENCE   2  (bases 1 to 2748)
  AUTHORS   Sharma,P., Zhang,X., Ly,K., Kim,J.H., Wan,Q., Kim,J., Lou,M.,
            Kain,L., Teyton,L. and Winau,F.
  TITLE     Hyperglycosylation of prosaposin in tumor dendritic cells drives
            immune escape
  JOURNAL   Science 383 (6679), 190-200 (2024)
   PUBMED   38207022
  REMARK    GeneRIF: Hyperglycosylation of prosaposin in tumor dendritic cells
            drives immune escape.
REFERENCE   3  (bases 1 to 2748)
  AUTHORS   Qiu,X., Guo,Y., Liu,M.F., Zhang,B., Li,J., Wei,J.F. and Li,M.
  TITLE     Single-cell RNA-sequencing analysis reveals enhanced non-canonical
            neurotrophic factor signaling in the subacute phase of traumatic
            brain injury
  JOURNAL   CNS Neurosci Ther 29 (11), 3446-3459 (2023)
   PUBMED   37269057
  REMARK    GeneRIF: Single-cell RNA-sequencing analysis reveals enhanced
            non-canonical neurotrophic factor signaling in the subacute phase
            of traumatic brain injury.
REFERENCE   4  (bases 1 to 2748)
  AUTHORS   Miyahara,Y., Takano,S., Sogawa,K., Tomizawa,S., Furukawa,K.,
            Takayashiki,T., Kuboki,S. and Ohtsuka,M.
  TITLE     Prosaposin, tumor-secreted protein, promotes pancreatic cancer
            progression by decreasing tumor-infiltrating lymphocytes
  JOURNAL   Cancer Sci 113 (8), 2548-2559 (2022)
   PUBMED   35633503
  REMARK    GeneRIF: Prosaposin, tumor-secreted protein, promotes pancreatic
            cancer progression by decreasing tumor-infiltrating lymphocytes.
REFERENCE   5  (bases 1 to 2748)
  AUTHORS   Carvelli,L., Libin,Y. and Morales,C.R.
  TITLE     Prosaposin: a protein with differential sorting and multiple
            functions
  JOURNAL   Histol Histopathol 30 (6), 647-660 (2015)
   PUBMED   25519158
  REMARK    Review article
REFERENCE   6  (bases 1 to 2748)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   7  (bases 1 to 2748)
  AUTHORS   Hiraiwa,M., Soeda,S., Kishimoto,Y. and O'Brien,J.S.
  TITLE     Binding and transport of gangliosides by prosaposin
  JOURNAL   Proc Natl Acad Sci U S A 89 (23), 11254-11258 (1992)
   PUBMED   1454804
REFERENCE   8  (bases 1 to 2748)
  AUTHORS   Rorman,E.G., Scheinker,V. and Grabowski,G.A.
  TITLE     Structure and evolution of the human prosaposin chromosomal gene
  JOURNAL   Genomics 13 (2), 312-318 (1992)
   PUBMED   1612590
REFERENCE   9  (bases 1 to 2748)
  AUTHORS   Schnabel,D., Schroder,M., Furst,W., Klein,A., Hurwitz,R., Zenk,T.,
            Weber,J., Harzer,K., Paton,B.C., Poulos,A. et al.
  TITLE     Simultaneous deficiency of sphingolipid activator proteins 1 and 2
            is caused by a mutation in the initiation codon of their common
            gene
  JOURNAL   J Biol Chem 267 (5), 3312-3315 (1992)
   PUBMED   1371116
REFERENCE   10 (bases 1 to 2748)
  AUTHORS   Dewji,N., Wenger,D., Fujibayashi,S., Donoviel,M., Esch,F., Hill,F.
            and O'Brien,J.S.
  TITLE     Molecular cloning of the sphingolipid activator protein-1 (SAP-1),
            the sulfatide sulfatase activator
  JOURNAL   Biochem Biophys Res Commun 134 (2), 989-994 (1986)
   PUBMED   2868718
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC420206.1 and BC004275.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_002778.3.
            
            Summary: This gene encodes a highly conserved preproprotein that is
            proteolytically processed to generate four main cleavage products
            including saposins A, B, C, and D. Each domain of the precursor
            protein is approximately 80 amino acid residues long with nearly
            identical placement of cysteine residues and glycosylation sites.
            Saposins A-D localize primarily to the lysosomal compartment where
            they facilitate the catabolism of glycosphingolipids with short
            oligosaccharide groups. The precursor protein exists both as a
            secretory protein and as an integral membrane protein and has
            neurotrophic activities. Mutations in this gene have been
            associated with Gaucher disease and metachromatic leukodystrophy.
            Alternative splicing results in multiple transcript variants, at
            least one of which encodes an isoform that is proteolytically
            processed. [provided by RefSeq, Feb 2016].
            
            Transcript Variant: This variant (1) lacks an exon in the coding
            region, compared to variant 2, resulting in a shorter protein
            (isoform a), compared to isoform b.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.952077.1,
                                           SRR3476690.896000.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000394936.8/ ENSP00000378394.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                DC420206.1         125-141
            18-2748             BC004275.1         1-2731
FEATURES             Location/Qualifiers
     source          1..2748
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.1"
     gene            1..2748
                     /gene="PSAP"
                     /gene_synonym="GLBA; PARK24; PSAPD; SAP1; SAP2"
                     /note="prosaposin"
                     /db_xref="GeneID:5660"
                     /db_xref="HGNC:HGNC:9498"
                     /db_xref="MIM:176801"
     exon            1..70
                     /gene="PSAP"
                     /gene_synonym="GLBA; PARK24; PSAPD; SAP1; SAP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..1605
                     /gene="PSAP"
                     /gene_synonym="GLBA; PARK24; PSAPD; SAP1; SAP2"
                     /note="isoform a preproprotein is encoded by transcript
                     variant 1; sphingolipid activator protein-1; proactivator
                     polypeptide; sphingolipid activator protein-2; saposin-A;
                     saposin-B; saposin-C; saposin-D; precursor of saposins"
                     /codon_start=1
                     /product="prosaposin isoform a preproprotein"
                     /protein_id="NP_002769.1"
                     /db_xref="CCDS:CCDS7311.1"
                     /db_xref="GeneID:5660"
                     /db_xref="HGNC:HGNC:9498"
                     /db_xref="MIM:176801"
                     /translation="MYALFLLASLLGAALAGPVLGLKECTRGSAVWCQNVKTASDCGA
                     VKHCLQTVWNKPTVKSLPCDICKDVVTAAGDMLKDNATEEEILVYLEKTCDWLPKPNM
                     SASCKEIVDSYLPVILDIIKGEMSRPGEVCSALNLCESLQKHLAELNHQKQLESNKIP
                     ELDMTEVVAPFMANIPLLLYPQDGPRSKPQPKDNGDVCQDCIQMVTDIQTAVRTNSTF
                     VQALVEHVKEECDRLGPGMADICKNYISQYSEIAIQMMMHMQPKEICALVGFCDEVKE
                     MPMQTLVPAKVASKNVIPALELVEPIKKHEVPAKSDVYCEVCEFLVKEVTKLIDNNKT
                     EKEILDAFDKMCSKLPKSLSEECQEVVDTYGSSILSILLEEVSPELVCSMLHLCSGTR
                     LPALTVHVTQPKDGGFCEVCKKLVGYLDRNLEKNSTKQEILAALEKGCSFLPDPYQKQ
                     CDQFVAEYEPVLIEILVEVMDPSFVCLKIGACPSAHKPLLGTEKCIWGPSYWCQNTET
                     AAQCNAVEHCKRHVWN"
     exon            71..204
                     /gene="PSAP"
                     /gene_synonym="GLBA; PARK24; PSAPD; SAP1; SAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            205..279
                     /gene="PSAP"
                     /gene_synonym="GLBA; PARK24; PSAPD; SAP1; SAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            280..405
                     /gene="PSAP"
                     /gene_synonym="GLBA; PARK24; PSAPD; SAP1; SAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            406..606
                     /gene="PSAP"
                     /gene_synonym="GLBA; PARK24; PSAPD; SAP1; SAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            607..750
                     /gene="PSAP"
                     /gene_synonym="GLBA; PARK24; PSAPD; SAP1; SAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            751..807
                     /gene="PSAP"
                     /gene_synonym="GLBA; PARK24; PSAPD; SAP1; SAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            808..939
                     /gene="PSAP"
                     /gene_synonym="GLBA; PARK24; PSAPD; SAP1; SAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            940..1035
                     /gene="PSAP"
                     /gene_synonym="GLBA; PARK24; PSAPD; SAP1; SAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1036..1222
                     /gene="PSAP"
                     /gene_synonym="GLBA; PARK24; PSAPD; SAP1; SAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1223..1380
                     /gene="PSAP"
                     /gene_synonym="GLBA; PARK24; PSAPD; SAP1; SAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1381..1461
                     /gene="PSAP"
                     /gene_synonym="GLBA; PARK24; PSAPD; SAP1; SAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1462..1569
                     /gene="PSAP"
                     /gene_synonym="GLBA; PARK24; PSAPD; SAP1; SAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1570..2748
                     /gene="PSAP"
                     /gene_synonym="GLBA; PARK24; PSAPD; SAP1; SAP2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2728..2733
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PSAP"
                     /gene_synonym="GLBA; PARK24; PSAPD; SAP1; SAP2"
                     /note="hexamer: AATAAA"
     polyA_site      2748
                     /gene="PSAP"
                     /gene_synonym="GLBA; PARK24; PSAPD; SAP1; SAP2"
                     /note="major polyA site"
ORIGIN      
        1 gcattgcaga ctgcggagtc agacggcgct atgtacgccc tcttcctcct ggccagcctc
       61 ctgggcgcgg ctctagccgg cccggtcctt ggactgaaag aatgcaccag gggctcggca
      121 gtgtggtgcc agaatgtgaa gacggcgtcc gactgcgggg cagtgaagca ctgcctgcag
      181 accgtttgga acaagccaac agtgaaatcc cttccctgcg acatatgcaa agacgttgtc
      241 accgcagctg gtgatatgct gaaggacaat gccactgagg aggagatcct tgtttacttg
      301 gagaagacct gtgactggct tccgaaaccg aacatgtctg cttcatgcaa ggagatagtg
      361 gactcctacc tccctgtcat cctggacatc attaaaggag aaatgagccg tcctggggag
      421 gtgtgctctg ctctcaacct ctgcgagtct ctccagaagc acctagcaga gctgaatcac
      481 cagaagcagc tggagtccaa taagatccca gagctggaca tgactgaggt ggtggccccc
      541 ttcatggcca acatccctct cctcctctac cctcaggacg gcccccgcag caagccccag
      601 ccaaaggata atggggacgt ttgccaggac tgcattcaga tggtgactga catccagact
      661 gctgtacgga ccaactccac ctttgtccag gccttggtgg aacatgtcaa ggaggagtgt
      721 gaccgcctgg gccctggcat ggccgacata tgcaagaact atatcagcca gtattctgaa
      781 attgctatcc agatgatgat gcacatgcaa cccaaggaga tctgtgcgct ggttgggttc
      841 tgtgatgagg tgaaagagat gcccatgcag actctggtcc ccgccaaagt ggcctccaag
      901 aatgtcatcc ctgccctgga actggtggag cccattaaga agcacgaggt cccagcaaag
      961 tctgatgttt actgtgaggt gtgtgaattc ctggtgaagg aggtgaccaa gctgattgac
     1021 aacaacaaga ctgagaaaga aatactcgac gcttttgaca aaatgtgctc gaagctgccg
     1081 aagtccctgt cggaagagtg ccaggaggtg gtggacacgt acggcagctc catcctgtcc
     1141 atcctgctgg aggaggtcag ccctgagctg gtgtgcagca tgctgcacct ctgctctggc
     1201 acgcggctgc ctgcactgac cgttcacgtg actcagccaa aggacggtgg cttctgcgaa
     1261 gtgtgcaaga agctggtggg ttatttggat cgcaacctgg agaaaaacag caccaagcag
     1321 gagatcctgg ctgctcttga gaaaggctgc agcttcctgc cagaccctta ccagaagcag
     1381 tgtgatcagt ttgtggcaga gtacgagccc gtgctgatcg agatcctggt ggaggtgatg
     1441 gatccttcct tcgtgtgctt gaaaattgga gcctgcccct cggcccataa gcccttgttg
     1501 ggaactgaga agtgtatatg gggcccaagc tactggtgcc agaacacaga gacagcagcc
     1561 cagtgcaatg ctgtcgagca ttgcaaacgc catgtgtgga actaggagga ggaatattcc
     1621 atcttggcag aaaccacagc attggttttt ttctacttgt gtgtctgggg gaatgaacgc
     1681 acagatctgt ttgactttgt tataaaaata gggctccccc acctccccca tttctgtgtc
     1741 ctttattgta gcattgctgt ctgcaaggga gcccctagcc cctggcagac atagctgctt
     1801 cagtgcccct tttctctctg ctagatggat gttgatgcac tggaggtctt ttagcctgcc
     1861 cttgcatggc gcctgctgga ggaggagaga gctctgctgg catgagccac agtttcttga
     1921 ctggaggcca tcaaccctct tggttgaggc cttgttctga gccctgacat gtgcttgggc
     1981 actggtgggc ctgggcttct gaggtggcct cctgccctga tcagggaccc tccccgcttt
     2041 cctgggcctc tcagttgaac aaagcagcaa aacaaaggca gttttatatg aaagattaga
     2101 agcctggaat aatcaggctt tttaaatgat gtaattccca ctgtaatagc atagggattt
     2161 tggaagcagc tgctggtggc ttgggacatc agtggggcca agggttctct gtccctggtt
     2221 caactgtgat ttggctttcc cgtgtctttc ctggtgatgc cttgtttggg gttctgtggg
     2281 tttgggtggg aagagggcca tctgcctgaa tgtaacctgc tagctctccg aaggccctgc
     2341 gggcctggct tgtgtgagcg tgtggacagt ggtggccgcg ctgtgcctgc tcgtgttgcc
     2401 tacatgtccc tggctgttga ggcgctgctt cagcctgcac ccctcccttg tctcatagat
     2461 gctccttttg accttttcaa ataaatatgg atggcgagct cctaggcctc tggcttcctg
     2521 gtagagggcg gcatgccgaa gggtctgctg ggtgtggatt ggatgctggg gtgtgggggt
     2581 tggaagctgt ctgtggccca cttgggcacc cacgcttctg tccacttctg gttgccagga
     2641 gacagcaagc aaagccagca ggacatgaag ttgctattaa atggacttcg tgatttttgt
     2701 tttgcactaa agtttctgtg atttaacaat aaaattctgt tagccaga
//
