LOCUS       NM_001042465            2757 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens prosaposin (PSAP), transcript variant 2, mRNA.
ACCESSION   NM_001042465
VERSION     NM_001042465.3
KEYWORDS    RefSeq.
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 2757)
  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 2757)
  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 2757)
  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 2757)
  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 2757)
  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 2757)
  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 2757)
  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 2757)
  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 2757)
  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 2757)
  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, D00422.1 and
            BC004275.1.
            
            On May 31, 2019 this sequence version replaced NM_001042465.2.
            
            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 (2) represents the longest
            transcript and encodes the longest 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 :: SRR3476690.843461.1,
                                           SRR3476690.1144182.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-23                DC420206.1         125-147
            24-2519             D00422.1           2-2497
            2520-2757           BC004275.1         2494-2731
FEATURES             Location/Qualifiers
     source          1..2757
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.1"
     gene            1..2757
                     /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..1614
                     /gene="PSAP"
                     /gene_synonym="GLBA; PARK24; PSAPD; SAP1; SAP2"
                     /note="isoform b preproprotein is encoded by transcript
                     variant 2; 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 b preproprotein"
                     /protein_id="NP_001035930.1"
                     /db_xref="GeneID:5660"
                     /db_xref="HGNC:HGNC:9498"
                     /db_xref="MIM:176801"
                     /translation="MYALFLLASLLGAALAGPVLGLKECTRGSAVWCQNVKTASDCGA
                     VKHCLQTVWNKPTVKSLPCDICKDVVTAAGDMLKDNATEEEILVYLEKTCDWLPKPNM
                     SASCKEIVDSYLPVILDIIKGEMSRPGEVCSALNLCESLQKHLAELNHQKQLESNKIP
                     ELDMTEVVAPFMANIPLLLYPQDGPRSKPQPKDNGDVCQDCIQMVTDIQTAVRTNSTF
                     VQALVEHVKEECDRLGPGMADICKNYISQYSEIAIQMMMHMQDQQPKEICALVGFCDE
                     VKEMPMQTLVPAKVASKNVIPALELVEPIKKHEVPAKSDVYCEVCEFLVKEVTKLIDN
                     NKTEKEILDAFDKMCSKLPKSLSEECQEVVDTYGSSILSILLEEVSPELVCSMLHLCS
                     GTRLPALTVHVTQPKDGGFCEVCKKLVGYLDRNLEKNSTKQEILAALEKGCSFLPDPY
                     QKQCDQFVAEYEPVLIEILVEVMDPSFVCLKIGACPSAHKPLLGTEKCIWGPSYWCQN
                     TETAAQCNAVEHCKRHVWN"
     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..816
                     /gene="PSAP"
                     /gene_synonym="GLBA; PARK24; PSAPD; SAP1; SAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            817..948
                     /gene="PSAP"
                     /gene_synonym="GLBA; PARK24; PSAPD; SAP1; SAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            949..1044
                     /gene="PSAP"
                     /gene_synonym="GLBA; PARK24; PSAPD; SAP1; SAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1045..1231
                     /gene="PSAP"
                     /gene_synonym="GLBA; PARK24; PSAPD; SAP1; SAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1232..1389
                     /gene="PSAP"
                     /gene_synonym="GLBA; PARK24; PSAPD; SAP1; SAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1390..1470
                     /gene="PSAP"
                     /gene_synonym="GLBA; PARK24; PSAPD; SAP1; SAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1471..1578
                     /gene="PSAP"
                     /gene_synonym="GLBA; PARK24; PSAPD; SAP1; SAP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1579..2757
                     /gene="PSAP"
                     /gene_synonym="GLBA; PARK24; PSAPD; SAP1; SAP2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2737..2742
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PSAP"
                     /gene_synonym="GLBA; PARK24; PSAPD; SAP1; SAP2"
                     /note="hexamer: AATAAA"
     polyA_site      2757
                     /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 gcacatgcag gatcagcaac ccaaggagat ctgtgcgctg
      841 gttgggttct gtgatgaggt gaaagagatg cccatgcaga ctctggtccc cgccaaagtg
      901 gcctccaaga atgtcatccc tgccctggaa ctggtggagc ccattaagaa gcacgaggtc
      961 ccagcaaagt ctgatgttta ctgtgaggtg tgtgaattcc tggtgaagga ggtgaccaag
     1021 ctgattgaca acaacaagac tgagaaagaa atactcgacg cttttgacaa aatgtgctcg
     1081 aagctgccga agtccctgtc ggaagagtgc caggaggtgg tggacacgta cggcagctcc
     1141 atcctgtcca tcctgctgga ggaggtcagc cctgagctgg tgtgcagcat gctgcacctc
     1201 tgctctggca cgcggctgcc tgcactgacc gttcacgtga ctcagccaaa ggacggtggc
     1261 ttctgcgaag tgtgcaagaa gctggtgggt tatttggatc gcaacctgga gaaaaacagc
     1321 accaagcagg agatcctggc tgctcttgag aaaggctgca gcttcctgcc agacccttac
     1381 cagaagcagt gtgatcagtt tgtggcagag tacgagcccg tgctgatcga gatcctggtg
     1441 gaggtgatgg atccttcctt cgtgtgcttg aaaattggag cctgcccctc ggcccataag
     1501 cccttgttgg gaactgagaa gtgtatatgg ggcccaagct actggtgcca gaacacagag
     1561 acagcagccc agtgcaatgc tgtcgagcat tgcaaacgcc atgtgtggaa ctaggaggag
     1621 gaatattcca tcttggcaga aaccacagca ttggtttttt tctacttgtg tgtctggggg
     1681 aatgaacgca cagatctgtt tgactttgtt ataaaaatag ggctccccca cctcccccat
     1741 ttctgtgtcc tttattgtag cattgctgtc tgcaagggag cccctagccc ctggcagaca
     1801 tagctgcttc agtgcccctt ttctctctgc tagatggatg ttgatgcact ggaggtcttt
     1861 tagcctgccc ttgcatggcg cctgctggag gaggagagag ctctgctggc atgagccaca
     1921 gtttcttgac tggaggccat caaccctctt ggttgaggcc ttgttctgag ccctgacatg
     1981 tgcttgggca ctggtgggcc tgggcttctg aggtggcctc ctgccctgat cagggaccct
     2041 ccccgctttc ctgggcctct cagttgaaca aagcagcaaa acaaaggcag ttttatatga
     2101 aagattagaa gcctggaata atcaggcttt ttaaatgatg taattcccac tgtaatagca
     2161 tagggatttt ggaagcagct gctggtggct tgggacatca gtggggccaa gggttctctg
     2221 tccctggttc aactgtgatt tggctttccc gtgtctttcc tggtgatgcc ttgtttgggg
     2281 ttctgtgggt ttgggtggga agagggccat ctgcctgaat gtaacctgct agctctccga
     2341 aggccctgcg ggcctggctt gtgtgagcgt gtggacagtg gtggccgcgc tgtgcctgct
     2401 cgtgttgcct acatgtccct ggctgttgag gcgctgcttc agcctgcacc cctcccttgt
     2461 ctcatagatg ctccttttga ccttttcaaa taaatatgga tggcgagctc ctaggcctct
     2521 ggcttcctgg tagagggcgg catgccgaag ggtctgctgg gtgtggattg gatgctgggg
     2581 tgtgggggtt ggaagctgtc tgtggcccac ttgggcaccc acgcttctgt ccacttctgg
     2641 ttgccaggag acagcaagca aagccagcag gacatgaagt tgctattaaa tggacttcgt
     2701 gatttttgtt ttgcactaaa gtttctgtga tttaacaata aaattctgtt agccaga
//
