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Aliases for PSAPL1 Gene

Aliases for PSAPL1 Gene

  • Prosaposin Like 1 (Gene/Pseudogene) 2 3 5
  • Prosaposin-Like 1 2 3
  • Proactivator Polypeptide-Like 1 3
  • Prosaposin-Like Protein 1 3

External Ids for PSAPL1 Gene

Previous GeneCards Identifiers for PSAPL1 Gene

  • GC04M007485
  • GC04M007357

Summaries for PSAPL1 Gene

Entrez Gene Summary for PSAPL1 Gene

  • This gene encodes a protein that is related to the glycoprotein prosaposin. Based on sequence similarity between the encoded protein and prosaposin, it is predicted that the encoded protein is a preproprotein that is proteolytically processed to generate multiple protein products. These predicted products include saposins A-like, B-like, C-like, and D-like, which may play a role in the lysosomal degradation of sphingolipids. [provided by RefSeq, Jul 2015]

GeneCards Summary for PSAPL1 Gene

PSAPL1 (Prosaposin Like 1 (Gene/Pseudogene)) is a Protein Coding gene. Among its related pathways are Lysosome. An important paralog of this gene is PSAP.

UniProtKB/Swiss-Prot for PSAPL1 Gene

  • May activate the lysosomal degradation of sphingolipids.

Additional gene information for PSAPL1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSAPL1 Gene

Genomics for PSAPL1 Gene

GeneHancer (GH) Regulatory Elements for PSAPL1 Gene

Promoters and enhancers for PSAPL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J007434 Enhancer 0.6 ENCODE 660.3 -0.7 -676 2 SOX13 PKNOX1 SP5 ZNF189 CEBPB ZIC2 PPARG ZFP69B ZFHX2 GLIS2 PSAPL1 MIR4274 SORCS2
GH04J007397 Enhancer 0.8 ENCODE dbSUPER 11.8 +37.1 37094 1.2 CTCF NFIB ZIC2 OSR2 ZFHX2 GLIS2 NFIC ZNF692 GLIS1 RCOR1 PSAPL1 GC04M007414 GC04M007348 SORCS2
GH04J007460 Enhancer 0.6 ENCODE 12.9 -25.8 -25816 0.2 USF1 RXRA BHLHE40 MNT RARA SKI MITF SP1 RAD51 CBFA2T2 MIR4274 PSAPL1 GC04M007519 SORCS2
GH04J007463 Enhancer 0.5 ENCODE 12.6 -28.5 -28546 1 CTCF SP1 FOXA2 RXRA RAD21 PSAPL1 MIR4274 GC04M007519 SORCS2
GH04J007393 Enhancer 0.5 ENCODE dbSUPER 12.4 +41.6 41634 0.5 CTCF PSAPL1 GC04M007414 GC04M007348 SORCS2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PSAPL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PSAPL1 gene promoter:
  • Nkx2-5
  • Evi-1
  • Max
  • c-Myc
  • Ik-1
  • Arnt
  • AhR
  • POU6F1 (c2)
  • SREBP-1a
  • SREBP-1b

Genomic Locations for PSAPL1 Gene

Genomic Locations for PSAPL1 Gene
chr4:7,430,294-7,434,973
(GRCh38/hg38)
Size:
4,680 bases
Orientation:
Minus strand
chr4:7,432,021-7,436,700
(GRCh37/hg19)
Size:
4,680 bases
Orientation:
Minus strand

Genomic View for PSAPL1 Gene

Genes around PSAPL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSAPL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSAPL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PSAPL1 Gene

Proteins for PSAPL1 Gene

  • Protein details for PSAPL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NUJ1-SAPL1_HUMAN
    Recommended name:
    Proactivator polypeptide-like 1
    Protein Accession:
    Q6NUJ1
    Secondary Accessions:
    • A0A184
    • Q8N7T4

    Protein attributes for PSAPL1 Gene

    Size:
    521 amino acids
    Molecular mass:
    56627 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH68579.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC05143.1; Type=Erroneous termination; Positions=510; Note=Translated as Trp.; Evidence={ECO:0000305};

neXtProt entry for PSAPL1 Gene

Post-translational modifications for PSAPL1 Gene

  • Glycosylation at posLast=311311 and Asn201
  • Modification sites at PhosphoSitePlus

Other Protein References for PSAPL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PSAPL1 Gene

Domains & Families for PSAPL1 Gene

Gene Families for PSAPL1 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for PSAPL1 Gene

Suggested Antigen Peptide Sequences for PSAPL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PSAPL1: view

No data available for UniProtKB/Swiss-Prot for PSAPL1 Gene

Function for PSAPL1 Gene

Molecular function for PSAPL1 Gene

UniProtKB/Swiss-Prot Function:
May activate the lysosomal degradation of sphingolipids.

Gene Ontology (GO) - Molecular Function for PSAPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001664 G-protein coupled receptor binding IBA --
GO:0008047 enzyme activator activity IBA --
genes like me logo Genes that share ontologies with PSAPL1: view

Phenotypes for PSAPL1 Gene

genes like me logo Genes that share phenotypes with PSAPL1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSAPL1

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PSAPL1 Gene

Localization for PSAPL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PSAPL1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PSAPL1 gene
Compartment Confidence
extracellular 5
cytosol 5
lysosome 4

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PSAPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA --
GO:0005737 cytoplasm IBA --
GO:0005764 lysosome IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with PSAPL1: view

Pathways & Interactions for PSAPL1 Gene

SuperPathways for PSAPL1 Gene

SuperPathway Contained pathways
1 Lysosome
genes like me logo Genes that share pathways with PSAPL1: view

Pathways by source for PSAPL1 Gene

1 KEGG pathway for PSAPL1 Gene

Interacting Proteins for PSAPL1 Gene

Gene Ontology (GO) - Biological Process for PSAPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IEA --
GO:0007193 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway IBA --
GO:0019216 regulation of lipid metabolic process IBA --
GO:0043085 positive regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with PSAPL1: view

No data available for SIGNOR curated interactions for PSAPL1 Gene

Drugs & Compounds for PSAPL1 Gene

No Compound Related Data Available

Transcripts for PSAPL1 Gene

mRNA/cDNA for PSAPL1 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PSAPL1 Gene

Prosaposin-like 1 (gene/pseudogene):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSAPL1

Alternative Splicing Database (ASD) splice patterns (SP) for PSAPL1 Gene

No ASD Table

Relevant External Links for PSAPL1 Gene

GeneLoc Exon Structure for
PSAPL1
ECgene alternative splicing isoforms for
PSAPL1

Expression for PSAPL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PSAPL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PSAPL1 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x25.9) and Skin - Not Sun Exposed (Suprapubic) (x22.0).

Protein differential expression in normal tissues from HIPED for PSAPL1 Gene

This gene is overexpressed in Skin (65.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PSAPL1 Gene



Protein tissue co-expression partners for PSAPL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PSAPL1 Gene:

PSAPL1

SOURCE GeneReport for Unigene cluster for PSAPL1 Gene:

Hs.662523

Evidence on tissue expression from TISSUES for PSAPL1 Gene

  • Skin(4.3)
  • Nervous system(4.1)
  • Stomach(2)
genes like me logo Genes that share expression patterns with PSAPL1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PSAPL1 Gene

Orthologs for PSAPL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PSAPL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PSAPL1 34 33
  • 98.66 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Psapl1 33
  • 75.08 (n)
mouse
(Mus musculus)
Mammalia Psapl1 16 34 33
  • 73.96 (n)
cow
(Bos Taurus)
Mammalia PSAPL1 34 33
  • 73.54 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 40 (a)
OneToMany
dog
(Canis familiaris)
Mammalia PSAPL1 34
  • 37 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 36 (a)
ManyToMany
-- 34
  • 29 (a)
ManyToMany
chicken
(Gallus gallus)
Aves PSAP 34
  • 36 (a)
ManyToMany
-- 34
  • 31 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 34 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii psap 34
  • 31 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Sap-r 34
  • 8 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 17 (a)
OneToMany
Species where no ortholog for PSAPL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PSAPL1 Gene

ENSEMBL:
Gene Tree for PSAPL1 (if available)
TreeFam:
Gene Tree for PSAPL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PSAPL1: view image

Paralogs for PSAPL1 Gene

Paralogs for PSAPL1 Gene

(1) SIMAP similar genes for PSAPL1 Gene using alignment to 1 proteins:

  • SAPL1_HUMAN
genes like me logo Genes that share paralogs with PSAPL1: view

Variants for PSAPL1 Gene

Sequence variations from dbSNP and Humsavar for PSAPL1 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000308689 -- 7,436,943(-) G/A upstream_transcript_variant
rs1000575562 -- 7,436,835(-) T/C upstream_transcript_variant
rs10011121 -- 7,431,833(-) C/A/T 3_prime_UTR_variant
rs1001240274 -- 7,430,722(-) C/T 3_prime_UTR_variant
rs10014338 -- 7,432,880(-) C/A 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for PSAPL1 Gene

Variant ID Type Subtype PubMed ID
esv34196 OTHER inversion 12058347
nsv1003679 CNV gain 25217958
nsv461203 CNV loss 19166990
nsv461204 CNV loss 19166990
nsv461205 CNV loss 19166990
nsv469758 CNV loss 16826518
nsv470008 CNV loss 18288195
nsv508994 CNV insertion 20534489
nsv593569 CNV gain 21841781
nsv593572 CNV loss 21841781
nsv949781 CNV deletion 24416366

Variation tolerance for PSAPL1 Gene

Residual Variation Intolerance Score: 97.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.97; 84.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PSAPL1 Gene

Human Gene Mutation Database (HGMD)
PSAPL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PSAPL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSAPL1 Gene

Disorders for PSAPL1 Gene

Additional Disease Information for PSAPL1

No disorders were found for PSAPL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PSAPL1 Gene

Publications for PSAPL1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates. (PMID: 20210993) Zhang ZD … Gerstein M (Genome biology 2010) 3 58
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58
  5. Toward a complete human genome sequence. (PMID: 9847074) Sanger Center … Genome Sequencing Center (Genome research 1998) 3 58

Products for PSAPL1 Gene

Sources for PSAPL1 Gene

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