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RNPEPL1 arginyl aminopeptidase like 1 [ Homo sapiens (human) ]

Gene ID: 57140, updated on 26-Nov-2024

Summary

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Official Symbol
RNPEPL1provided by HGNC
Official Full Name
arginyl aminopeptidase like 1provided by HGNC
Primary source
HGNC:HGNC:10079
See related
Ensembl:ENSG00000142327 MIM:605287; AllianceGenome:HGNC:10079
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
Summary
Enables metalloaminopeptidase activity. Involved in proteolysis. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in spleen (RPKM 21.6), fat (RPKM 21.2) and 25 other tissues See more
Orthologs
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Genomic context

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See RNPEPL1 in Genome Data Viewer
Location:
2q37.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (240568484..240581372)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (241062509..241075397)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (241507901..241520789)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene glypican 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241397321-241397972 Neighboring gene GPC1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241397973-241398622 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241398623-241399273 Neighboring gene microRNA 149 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241417613-241418122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241418123-241418632 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241418633-241419142 Neighboring gene ankyrin repeat and MYND domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241439369-241439869 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241443459-241443959 Neighboring gene Sharpr-MPRA regulatory region 11390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241467695-241468196 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12512 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241494599-241495099 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17397 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12513 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12514 Neighboring gene conserved acetylation island sequence C08 enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17399 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17401 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12516 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12517 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12519 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12518 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241508348-241508986 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241508987-241509625 Neighboring gene dual specificity phosphatase 28 Neighboring gene Sharpr-MPRA regulatory region 11586 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17403 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17404 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17405 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17406 Neighboring gene Sharpr-MPRA regulatory region 5965 Neighboring gene CAPN10 divergent transcript Neighboring gene calpain 10

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Arginyl aminopeptidase-like 1 (RNPEPL1) is an alternatively processed aminopeptidase with specificity for methionine, glutamine, and citrulline residues. Thompson MW, et al. Protein Pept Lett, 2009. PMID 19508204
  2. Characterization of the enzymatic properties of human RNPEPL1/aminopeptidase Z. Ohnishi A, et al. J Biochem, 2023 Mar 31. PMID 36545750
  3. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Horikawa Y, et al. Nat Genet, 2000 Oct. PMID 11017071
  4. Family-based association study for bipolar affective disorder. Secolin R, et al. Psychiatr Genet, 2010 Jun. PMID 20414141
  5. Genome-wide searching of rare genetic variants in WTCCC data. Feng T, et al. Hum Genet, 2010 Sep. PMID 20549515, Free PMC Article

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Characterization of the enzymatic properties of human RNPEPL1/aminopeptidase Z.
    Title: Characterization of the enzymatic properties of human RNPEPL1/aminopeptidase Z.
  2. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Genome-wide searching of rare genetic variants in WTCCC data.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Family-based association study for bipolar affective disorder.
  4. RT-PCR analysis of RNPEPL1 expression revealed a ubiquitous tissue distribution, consistent with a general housekeeping function, but also revealed alternative splicing of the mRNA in all tissues examined.
    Title: Arginyl aminopeptidase-like 1 (RNPEPL1) is an alternatively processed aminopeptidase with specificity for methionine, glutamine, and citrulline residues.
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

EBI GWAS Catalog

Description
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables initiator methionyl aminopeptidase activity IEA
Inferred from Electronic Annotation
more info
  
enables metalloaminopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metalloaminopeptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in proteolysis IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
aminopeptidase RNPEPL1
Names
RNPEP-like 1
aminopeptidase B-like 1
argininyl aminopeptidase-like 1
arginyl aminopeptidase (aminopeptidase B)-like 1
methionyl aminopeptidase
NP_060696.4

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)

  1. NM_018226.6 → NP_060696.4  aminopeptidase RNPEPL1

    See identical proteins and their annotated locations for NP_060696.4

    Status: VALIDATED

    Source sequence(s)
    AC124862, BC017301, BC082975
    UniProtKB/Swiss-Prot
    Q5XKC3, Q6NX56, Q96AC9, Q9H033, Q9HAU8, Q9NVD0
    Related
    ENSP00000270357.4, ENST00000270357.10
    Conserved Domains (2) summary
    cd09599
    Location:29 → 512
    M1_LTA4H; Peptidase M1 family including Leukotriene A4 hydrolase catalytic domain
    pfam09127
    Location:560 → 673
    Leuk-A4-hydro_C; Leukotriene A4 hydrolase, C-terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    240568484..240581372
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    241062509..241075397
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9HAU8.3 GenPept UniProtKB/Swiss-Prot:Q9HAU8

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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