PSAPL1 prosaposin like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PSAPL1provided by HGNC
Official Full Name: prosaposin like 1provided by HGNC
Primary source: HGNC:HGNC:33131
See related: Ensembl:ENSG00000178597 AllianceGenome:HGNC:33131
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: 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]
Annotation information: Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
Orthologs: mouse all
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Genomic context

Location:: 4p16.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (7430285..7434930, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (7401912..7406554, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (7432012..7436657, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in epithelial cell differentiation involved in prostate gland development	IBA Inferred from Biological aspect of Ancestor more info
involved_in prostate gland growth	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of lipid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in sphingolipid metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in lysosome	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: proactivator polypeptide-like 1

Names: prosaposin-like protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001085382.2 → NP_001078851.1 proactivator polypeptide-like 1 preproprotein

See identical proteins and their annotated locations for NP_001078851.1

Status: REVIEWED

Source sequence(s)

AC080003, BC063708, DQ991252

Consensus CDS

CCDS47009.1

UniProtKB/Swiss-Prot

A0A184, Q6NUJ1, Q8N7T4

Related

ENSP00000317445.4, ENST00000319098.7

Conserved Domains (5) summary

smart00741
Location:293 → 366

SapB; Saposin (B) Domains

pfam02199
Location:479 → 509

SapA; Saposin A-type domain

pfam03489
Location:438 → 469

SapB_2; Saposin-like type B, region 2

pfam05184
Location:294 → 328

SapB_1; Saposin-like type B, region 1

cl02494
Location:22 → 55

SapA; Saposin A-type domain