H-InvDB x AHG DB
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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000049061_03 Accession number: AK129790 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Similar to Proactivator polypeptide isoform b preproprotein.
 
 

Transcript original information
Accession number AK129790.1
CAGE tag ID NA
EST ID NA
Clone Number DMC06755
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (PSAP) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (PSAP);
Sequence data provider Project:FLJ; Provider:FLJ/IMSUT; 
Annotation project H-Invitational FLcDNA
Length of cDNA 2317[bp] (No. of exon:15)[A:523 T:548 G:650 C:596]
Devision NA
Molecular type NA
Library origin Cell type NA
Tissue type dermoid tumor
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA NA
Vector/adapter sequence NA
Frame shift NA
Remaining intron NA
Splice site acceptor (NAGNAG) CAGAAG;  TAGGAG; 
Transcript quality feature NMD predicted; 
Notes NA

Gene structure information  G-integra H-DBAS cDNA-genome alignment
H-Inv cluster ID HIX0008908
Genomic location  G-integra Help Chromosome 10
Location 10q22.1
Position 73576307- 73611008
Strand -
Possible duplicated location(s) NA
Gene structure 15 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:5660; 
KEGG GENES KEGG GENES(5660); 
GeneCard GeneCardPSAP;  *GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links H-DBASH-DBAS;  G-integraG-integra;  cDNA-genome alignmentcDNA-genome alignment; 

Predicted CDS information
HIP ID HIP000441459
Predicted CDS 31..1173;  380[aa];  Orientation:+1; 
Codon Adaptation Index (CAI). 0.808

Motif information
ORF

length(380),orf(31:1173) MYALFLLASLLGAALAGPVLGLKECTRGSAVWCQNVKTASDCGAVKHCLQ TVWNKPTVKSLPCDICKDVVTAAGDMLKDNATEEEILVYLEKTCDWLPKP NMSASCKEIVDSYLPVILDIIKGEMSRPGEVCSALNLCESLQKHLAELNH QKQLESNKIPELDMTEVVAPFMANIPLLLYPQDGPRSKPQPKDNGDVCQD CIQMVTDIQTAVRTNSTFVQALVEHVKEECDRLGPGMADICKNYISQYSE IAIQMMMHMQDQQPKEICALVGFCDEVKEMPMQTLVPAKVASKNVIPALE LVEPIKKHEVPAKSDVYCEVCEFLVKEVTKLIDNNKTEKEILDAFDKMCS KLPKSLSEECQEVVDTYGSSIVHPAGGGQP* 		a.a.
length		 InterPro Name
length(25), motif(18:42) 25 IPR008373 Saposin [Family]
length(41), motif(18:58) 41 IPR003119 Saposin type A [Domain]
length(34), motif(21:54) 34 IPR003119 Saposin type A [Domain]
length(21), motif(47:67) 21 IPR008373 Saposin [Family]
length(81), motif(59:139) 81 IPR011001 Saposin-like [Domain]
length(84), motif(59:142) 84 IPR008139 Saposin B [Domain]
length(82), motif(60:141) 82 IPR011001 Saposin-like [Domain]
length(78), motif(61:138) 78 IPR008139 Saposin B [Domain]
length(38), motif(61:98) 38 IPR007856 Saposin-like type B, 1 [Domain]
length(18), motif(77:94) 18 IPR008373 Saposin [Family]
length(34), motif(105:138) 34 IPR008138 Saposin-like type B, 2 [Domain]
length(19), motif(128:146) 19 IPR008373 Saposin [Family]
length(26), motif(156:181) 26 IPR008373 Saposin [Family]
length(82), motif(194:275) 82 IPR011001 Saposin-like [Domain]
length(85), motif(194:278) 85 IPR008139 Saposin B [Domain]
length(40), motif(195:234) 40 IPR007856 Saposin-like type B, 1 [Domain]
length(79), motif(196:274) 79 IPR008139 Saposin B [Domain]
length(22), motif(197:218) 22 IPR008373 Saposin [Family]
length(22), motif(233:254) 22 IPR008373 Saposin [Family]
length(117), motif(237:353) 117 IPR011001 Saposin-like [Domain]
length(37), motif(238:274) 37 IPR008138 Saposin-like type B, 2 [Domain]
length(61), motif(313:373) 61 IPR011001 Saposin-like [Domain]
length(67), motif(314:380) 67 IPR008139 Saposin B [Domain]
length(65), motif(316:380) 65 IPR008139 Saposin B [Domain]
length(38), motif(316:353) 38 IPR007856 Saposin-like type B, 1 [Domain]
length(21), motif(318:338) 21 IPR008373 Saposin [Family]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000049061_03
H-Inv cluster ID Locus viewHIX0008908
Accession number AK129790.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO;  Splicing isoformSplicing isoform
Coding potential  Help Protein coding; 
Definition Similar to Proactivator polypeptide isoform b preproprotein.
Similarity category  Help Category: Similar to known protein(Category II).
Similar to known protein (NP_001035930)  [Identity/coverage = 99.81%/100.0%] to Homo sapiens protein.
Experimental evidence Protein evidence
PubMed ID NA
Gene family/group Gene family H-Inv gene family/group ID NA
Gene family/group name NA
Evidence motif (InterPro) ID NA
Gene symbol/name HGNC symbol PSAP
HGNC aliases "sphingolipid activator protein-1"
HGNC name prosaposin
DDBJ NA
UniProt NA
EC number NA
GGDB
(GlycoGene Database)
 Gene symbol NA
Familly NA
Designation NA
Expression NA
KEGG metabolic pathway NA
Protein-protein interaction (PPI) PPI viewer H-Inv protein ID HIP000441459
No. of interaction NA
Interaction partner(s) NA
BIND NA
DIP NA
MINT NA
HPRD NA
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:5660; 
KEGG GENES KEGG GENES(5660); 
GeneCard GeneCardPSAP;  *GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases; 
Curation status Auto-annotated
Notes NA
Related H-InvDB links Gene familyGene family;  Similarity Search ToolSimilarity Search Tool;  TACTTACT; 
fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome. 
NA

Gene ontology information
Biological process sphingolipid metabolic process (GO:0006665);  lipid metabolic process (GO:0006629); 
Cellular component lysosome (GO:0005764); 

Subcellular localization information  Last modified:27-May-2015
WoLF PSORT extracellular;  peroxisome;  cytosol;  lysosome; 
Target P signal peptide
SOSUI membrane protein
TMHMM soluble protein
PTS1 Not targeted
Related H-InvDB links LIFEdb LIFEdb; 
JRE-1.4.0 or later is required. Download JRE at Sun's web site.

Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:27-May-2015
Disease relation Disease name: Combined SAP deficiency (611721);  Disease name: Gaucher disease, atypical (610539);  Disease name: Krabbe disease, atypical (611722);  Disease name: Metachromatic leukodystrophy due to SAP-b deficiency (249900); 
Related information in OMIM OMIM ID:  176801;  Title: PROSAPOSIN
Co-localized orphan diseases NA
Disease related mutation MutationView:  176801; 
JRE-1.4.0 or later is required.Download JRE at Sun's web site.
Literature-Extracted GENe-Disease Associations (LEGENDA) LEGENDA Gene name Entrez Gene ID:(5660)
Disease Entrez Gene ID:(5660)
Substance Entrez Gene ID:(5660)
Related H-InvDB links DiseaseInfo ViewerDiseaseInfo Viewer;  LEGENDALEGENDA; 

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
2 .. 2 C/T rs201780377 - 5'UTR
20 .. 20 C/G rs28365839 + 5'UTR
21 .. 21 A/G rs76455588 - 5'UTR
27 .. 27 C/T rs2070188 + 5'UTR
31 .. 31 A/T rs121918106 + CDS Nonsynonymous[Met1Leu]
46 .. 46 C/T rs148279196 - CDS Nonsynonymous[Leu6Phe]
66 .. 66 C/G rs11555014 + CDS Synonymous[Gly12Gly]
78 .. 78 C/T rs199808371 - CDS Synonymous[Ala16Ala]
90 .. 90 T/C rs188252882 - CDS Synonymous[Leu20Leu]
97 .. 97 A/G rs143016278 - CDS Nonsynonymous[Lys23Glu]
101 ^ 102 -/A rs34228343 - CDS
108 .. 108 C/T rs74145688 - CDS Synonymous[Thr26Thr]
113 .. 113 G/T rs185057837 - CDS Nonsynonymous[Gly28Val]
118 .. 118 G/T rs144942998 - CDS Nonsynonymous[Ala30Ser]
124 .. 124 T/G rs200008050 - CDS Nonsynonymous[Trp32Gly]
143 .. 143 C/T rs145181011 - CDS Nonsynonymous[Thr38Met]
147 .. 147 G/A rs200836594 - CDS Synonymous[Ala39Ala]
150 .. 150 C/T rs141231601 - CDS Synonymous[Ser40Ser]
177 .. 177 G/A rs112119208 - CDS Synonymous[Leu49Leu]
183 .. 183 C/T rs11555016 + CDS Synonymous[Thr51Thr]
184 .. 184 G/A rs147920923 - CDS Nonsynonymous[Val52Ile]
219 .. 219 C/T rs111369573 - CDS Synonymous[Cys63Cys]
234 .. 234 C/T rs143981174 - CDS Synonymous[Asp68Asp]
244 .. 244 G/A rs150701404 - CDS Nonsynonymous[Ala72Thr]
247 .. 247 G/A rs11555015 + CDS Nonsynonymous[Ala73Thr]
375 .. 375 T/G rs11555017 + CDS Synonymous[Pro115Pro]
388 .. 388 A/G rs142784765 - CDS Nonsynonymous[Ile120Val]
409 .. 409 C/T rs148519599 - CDS Nonsynonymous[Arg127Cys]
518 .. 518 A/T rs146301708 - CDS Nonsynonymous[Asp163Val]
570 .. 570 C/T rs11555021 + CDS Synonymous[Tyr180Tyr]
579 .. 579 C/T rs142002239 - CDS Synonymous[Asp183Asp]
586 .. 586 C/T rs193088462 - CDS Nonsynonymous[Arg186Cys]
587 .. 587 G/A rs138880818 - CDS Nonsynonymous[Arg186His]
595 .. 595 C/T rs188854022 - CDS Nonsynonymous[Pro189Ser]
600 .. 600 G/T rs142272618 - CDS Nonsynonymous[Gln190His]
607 .. 607 G/C rs149305591 - CDS Nonsynonymous[Asp193His]
608 .. 608 A/G rs138636858 - CDS Nonsynonymous[Asp193Gly]
612 .. 612 T/C rs150177878 - CDS Synonymous[Asn194Asn]
619 .. 619 G/A rs191952316 - CDS Nonsynonymous[Val197Ile]
646 .. 646 A/G rs139503658 - CDS Nonsynonymous[Thr206Ala]
651 .. 651 C/T rs140702696 - CDS Synonymous[Asp207Asp]
653 .. 653 T/G rs200319381 - CDS Nonsynonymous[Ile208Ser]
667 .. 667 C/T rs150521779 - CDS Nonsynonymous[Arg213Trp]
673 .. 673 A/C rs121918107 + CDS Nonsynonymous[Asn215His]
680 .. 680 C/T rs121918103 + CDS Nonsynonymous[Thr217Ile]
725 .. 725 G/T rs147265566 - CDS Nonsynonymous[Arg232Leu]
727 .. 727 C/T/G rs146934980 - CDS
744 .. 744 C/G rs141199649 - CDS Synonymous[Ala238Ala]
752 .. 752 G/C rs121918104 + CDS Nonsynonymous[Cys241Ser]
753 .. 753 C/T rs147805036 - CDS Synonymous[Cys241Cys]
762 .. 762 T/C rs146732171 - CDS Synonymous[Tyr244Tyr]
771 .. 771 G/T rs202069470 - CDS Nonsynonymous[Gln247His]
810 .. 810 G/C rs112041816 - CDS Nonsynonymous[Gln260His]
813 .. 813 T/A rs113827790 - CDS Nonsynonymous[Asp261Glu]
837 .. 837 G/A rs199672678 - CDS Synonymous[Ala269Ala]
861 .. 861 G/A rs149202005 - CDS Synonymous[Val277Val]
904 .. 904 T/C rs145404688 - CDS Nonsynonymous[Ser292Pro]
933 .. 933 G/A rs150048951 - CDS Synonymous[Leu301Leu]
953 .. 953 A/G rs113554687 - CDS Nonsynonymous[His308Arg]
979 .. 979 T/C rs202041927 - CDS Nonsynonymous[Tyr317His]
1005 .. 1005 G/A rs139413990 - CDS Synonymous[Val325Val]
1056 .. 1056 C/T rs146778046 - CDS Synonymous[Leu342Leu]
1059 .. 1059 C/T rs113679008 - CDS Synonymous[Asp343Asp]
1068 .. 1068 C/A rs199650747 - CDS Nonsynonymous[Asp346Glu]
1085 .. 1085 T/C rs121918110 + CDS Nonsynonymous[Leu352Pro]
1088 .. 1088 C/T rs201129306 - CDS Nonsynonymous[Pro353Leu]
1095 .. 1095 C/T rs138328594 - CDS Synonymous[Ser355Ser]
1127 .. 1127 C/T rs140066253 - CDS Nonsynonymous[Thr366Met]
1131 .. 1131 C/T rs200226479 - CDS Synonymous[Tyr367Tyr]
1159 .. 1159 G/A rs146102517 - CDS Nonsynonymous[Gly377Arg]
1181 .. 1181 T/G rs121918108 + 3'UTR
1182 .. 1182 G/T rs121918105 + 3'UTR
1201 .. 1201 C/T rs141254386 - 3'UTR
1209 .. 1209 C/T rs202125074 - 3'UTR
1264 .. 1264 C/T rs147030327 - 3'UTR
1279 .. 1279 G/T rs1803650 + 3'UTR
1316 .. 1316 A/G rs148676984 - 3'UTR
1319 .. 1319 A/G rs200379457 - 3'UTR
1325 .. 1325 C/T rs121918109 + 3'UTR
1333 .. 1333 C/T rs144042454 - 3'UTR
1348 .. 1348 G/A rs149525964 - 3'UTR
1375 .. 1375 T/C rs138217875 - 3'UTR
1411 .. 1411 C/T rs146925179 - 3'UTR
1417 .. 1417 C/T rs1049882 + 3'UTR
1418 .. 1418 G/A rs138716613 - 3'UTR
1489 .. 1489 G/A rs114389264 - 3'UTR
1498 .. 1498 G/A rs140777530 - 3'UTR
1513 .. 1513 T/C rs139178900 - 3'UTR
1532 .. 1532 C/T rs143773764 - 3'UTR
1556 .. 1556 G/C rs149000433 - 3'UTR
1628 .. 1628 A/T rs199602243 - 3'UTR
1698 .. 1698 T/C rs187964417 - 3'UTR
1705 .. 1705 T/C rs183945494 - 3'UTR
1726 ^ 1727 -/C rs71480591 - 3'UTR
1729 ^ 1730 -/C rs36076120 - 3'UTR
1732 .. 1732 C/G rs191704547 - 3'UTR
1734 .. 1734 C/G rs113284884 - 3'UTR
1865 .. 1865 G/C rs113209259 - 3'UTR
1877 .. 1877 C/T rs150766866 - 3'UTR
1932 .. 1932 A/T rs14595 - 3'UTR
1988 .. 1988 A/G rs141906397 - 3'UTR
2041 .. 2041 C/G rs11555018 + 3'UTR
2199 .. 2199 G/A rs11555020 + 3'UTR
2211 .. 2211 G/T rs1803651 + 3'UTR
2248 .. 2248 C/T rs138390739 - 3'UTR
2266 .. 2266 G/T rs41282246 - 3'UTR
2292 .. 2292 A/C rs1056711 + 3'UTR
2317 .. 2317 G/A/C rs7869 + 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
 Repeat  Repeat mask viewer
No data available
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD); 
Related H-InvDB links VaryGeneVaryGene;  Repeat mask viewerRepeat Mask Viewer;