NPEPL1 aminopeptidase like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NPEPL1provided by HGNC
Official Full Name: aminopeptidase like 1provided by HGNC
Primary source: HGNC:HGNC:16244
See related: Ensembl:ENSG00000215440 AllianceGenome:HGNC:16244
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: bA261P9.2
Summary: Predicted to enable peptidase activity. Predicted to be involved in proteolysis. Located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in fat (RPKM 17.5), spleen (RPKM 15.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.32

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (58689131..58715844)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (60471191..60498449)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (57264187..57290900)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

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 Variation Viewer (GRCh37.p13)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of aminopeptidase-like 1 (NPEPL1) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH91972 (e-PCR)
- UniSTS:91788

SHGC-80926 (e-PCR)
- UniSTS:102562

Readthrough STX16-NPEPL1

Readthrough gene: STX16-NPEPL1, Included gene: STX16

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables manganese ion binding	IEA Inferred from Electronic Annotation more info
enables metalloaminopeptidase activity	IEA Inferred from Electronic Annotation more info
enables peptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
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 nucleus	HDA more info	PubMed

General protein information

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Preferred Names: probable aminopeptidase NPEPL1

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_001204872.2 → NP_001191801.1 probable aminopeptidase NPEPL1 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, and uses a distinct start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AK307771, AL139349, BC020507, BP232534

Consensus CDS

CCDS56200.1

UniProtKB/TrEMBL

B2RDV2

Related

ENSP00000434810.1, ENST00000525967.5

Conserved Domains (1) summary

cd00433
Location:13 → 459

Peptidase_M17; Cytosol aminopeptidase family, N-terminal and catalytic domains. Family M17 contains zinc- and manganese-dependent exopeptidases ( EC 3.4.11.1), including leucine aminopeptidase. They catalyze removal of amino acids from the N-terminus of a protein and ...
NM_001204873.2 → NP_001191802.1 probable aminopeptidase NPEPL1 isoform 3

See identical proteins and their annotated locations for NP_001191802.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, and uses a distinct start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AK297667, AL139349, BC020507, BP232534

Consensus CDS

CCDS56201.1

UniProtKB/TrEMBL

B2RDV2

Related

ENSP00000437112.1, ENST00000525817.5

Conserved Domains (1) summary

cd00433
Location:6 → 439

Peptidase_M17; Cytosol aminopeptidase family, N-terminal and catalytic domains. Family M17 contains zinc- and manganese-dependent exopeptidases ( EC 3.4.11.1), including leucine aminopeptidase. They catalyze removal of amino acids from the N-terminus of a protein and ...
NM_024663.4 → NP_078939.3 probable aminopeptidase NPEPL1 isoform 1

See identical proteins and their annotated locations for NP_078939.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AL139349, BC020507, BM544905

Consensus CDS

CCDS46621.1

UniProtKB/Swiss-Prot

A6NGZ0, B4DMW7, B7ZBN0, E9PN47, G5EA34, Q53G37, Q5W083, Q8NDH3, Q8TF28, Q8WUI2, Q9H1T6, Q9HAI5

Related

ENSP00000348395.6, ENST00000356091.11

Conserved Domains (1) summary

cd00433
Location:35 → 487

Peptidase_M17; Cytosol aminopeptidase family, N-terminal and catalytic domains. Family M17 contains zinc- and manganese-dependent exopeptidases ( EC 3.4.11.1), including leucine aminopeptidase. They catalyze removal of amino acids from the N-terminus of a protein and ...