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

    Gene ID: 57140, updated on 17-Jun-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, Apr 2022]
    Expression
    Ubiquitous expression in spleen (RPKM 21.6), fat (RPKM 21.2) and 25 other tissues See more
    Orthologs
    mouse all
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (240568484..240581372)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (241062509..241075397)
    105.20220307 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. Characterization of the enzymatic properties of human RNPEPL1/aminopeptidase Z. Ohnishi A, et al. J Biochem, 2023 Mar 31. PMID 36545750
    2. 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
    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 (16) 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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10806, FLJ26675, MGC99544

    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_2023_10

    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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