NPEPPSP1 NPEPPS pseudogene 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NPEPPSP1provided by HGNC
Official Full Name: NPEPPS pseudogene 1provided by HGNC
Primary source: HGNC:HGNC:44259
See related: Ensembl:ENSG00000291088 AllianceGenome:HGNC:44259
Gene type: pseudo
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NPEPPSL1
Summary: Predicted to enable metalloaminopeptidase activity; peptide binding activity; and zinc ion binding activity. Predicted to be involved in peptide catabolic process and proteolysis. Located in extracellular exosome. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in esophagus (RPKM 24.1), skin (RPKM 20.6) and 25 other tissues See more
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Genomic context

Location:: 17q12

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (38195740..38257249, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (39058811..39120263, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (36351796..36413256, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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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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Markers

D5S2354 (e-PCR)
- UniSTS:473392

D17S1720 (e-PCR)
- UniSTS:153906

D8S2279 (e-PCR)
- UniSTS:473907

SGC44582 (e-PCR)
- UniSTS:67202

SHGC-110413 (e-PCR)
- UniSTS:167849

D17S626 (e-PCR)
- UniSTS:147114

RH80425 (e-PCR)
- UniSTS:90807

RH46221 (e-PCR)
- UniSTS:1770

RH48280 (e-PCR)
- UniSTS:57584

Other Names

Puromycin-sensitive aminopeptidase-like protein
aminopeptidase puromycin sensitive pseudogene

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metalloaminopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables peptide binding	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in peptide catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

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.