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    ERMP1 endoplasmic reticulum metallopeptidase 1 [ Homo sapiens (human) ]

    Gene ID: 79956, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ERMP1provided by HGNC
    Official Full Name
    endoplasmic reticulum metallopeptidase 1provided by HGNC
    Primary source
    HGNC:HGNC:23703
    See related
    Ensembl:ENSG00000099219 MIM:611156; AllianceGenome:HGNC:23703
    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
    FXNA; KIAA1815; bA207C16.3
    Summary
    Predicted to enable metal ion binding activity and metalloexopeptidase activity. Involved in cellular response to oxidative stress. Acts upstream of or within endoplasmic reticulum unfolded protein response. Located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 22.8), kidney (RPKM 19.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ERMP1 in Genome Data Viewer
    Location:
    9p24.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (5784572..5867091, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (5789712..5872233, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (5784572..5833117, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28169 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28170 Neighboring gene programmed cell death 1 ligand 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19753 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28171 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28175 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19754 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:5629427-5629927 Neighboring gene RIC1 homolog, RAB6A GEF complex partner 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28176 Neighboring gene uncharacterized LOC124902115 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:5762408-5763607 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19755 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19756 Neighboring gene Sharpr-MPRA regulatory region 2314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28177 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28179 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19757 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:5879621-5880122 Neighboring gene small nucleolar RNA U13 Neighboring gene adenylate kinase 4 pseudogene 4 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:5909826-5911025 Neighboring gene bromodomain containing 10 Neighboring gene melan-A

    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 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?
    1. High expression of ERMP1 is correlated with cancer.
      Title: ERMP1, a novel potential oncogene involved in UPR and oxidative stress defense, is highly expressed in human cancer.
    2. Functional analysis of the rat Fxna ortholog.
      Title: Fxna, a novel gene differentially expressed in the rat ovary at the time of folliculogenesis, is required for normal ovarian histogenesis.
    Submit: New GeneRIF Correction

    Phenotypes

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    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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    Markers

    Homology

    Clone Names

    • KIAA1815

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metalloexopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within endoplasmic reticulum unfolded protein response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    endoplasmic reticulum metallopeptidase 1
    Names
    Felix-ina
    aminopeptidase Fxna

    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_001410952.1 → NP_001397881.1  endoplasmic reticulum metallopeptidase 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL136980, AL365360
      Consensus CDS
      CCDS94378.1
      UniProtKB/TrEMBL
      A0A8I5KXJ0
      Related
      ENSP00000508900.1, ENST00000691251.1

    2. NM_024896.3 → NP_079172.2  endoplasmic reticulum metallopeptidase 1 isoform 1

      See identical proteins and their annotated locations for NP_079172.2

      Status: VALIDATED

      Source sequence(s)
      AB058718, AK026962, AK093217, AK127218, AK172831, AL365360, AL834191, AW295384, BC031630, CN390893
      Consensus CDS
      CCDS34983.1
      UniProtKB/Swiss-Prot
      B2RNA4, B3KSB1, Q7Z2K6, Q8N5T5, Q9H5M1
      UniProtKB/TrEMBL
      A0A8I5KYJ3
      Related
      ENSP00000340427.5, ENST00000339450.10
      Conserved Domains (1) summary
      cd03875
      Location:104 → 412
      M28_Fxna_like; M28 Zn-peptidase Endoplasmic reticulum metallopeptidase 1

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      5784572..5867091 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017015139.3 → XP_016870628.1  endoplasmic reticulum metallopeptidase 1 isoform X1

      UniProtKB/TrEMBL
      A0A8I5KYJ3

    2. XM_047423898.1 → XP_047279854.1  endoplasmic reticulum metallopeptidase 1 isoform X3

      Related
      ENST00000214893.10

    3. XM_047423897.1 → XP_047279853.1  endoplasmic reticulum metallopeptidase 1 isoform X2

      UniProtKB/TrEMBL
      E7ER77
      Related
      ENSP00000417474.1, ENST00000489219.5

    4. XM_047423899.1 → XP_047279855.1  endoplasmic reticulum metallopeptidase 1 isoform X4

      UniProtKB/TrEMBL
      A0A8I5KNY4
      Related
      ENSP00000508594.1, ENST00000688899.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      5789712..5872233 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363864.1 → XP_054219839.1  endoplasmic reticulum metallopeptidase 1 isoform X1

    2. XM_054363863.1 → XP_054219838.1  endoplasmic reticulum metallopeptidase 1 isoform X5

    3. XM_054363867.1 → XP_054219842.1  endoplasmic reticulum metallopeptidase 1 isoform X6

    4. XM_054363862.1 → XP_054219837.1  endoplasmic reticulum metallopeptidase 1 isoform X5

    5. XM_054363866.1 → XP_054219841.1  endoplasmic reticulum metallopeptidase 1 isoform X3

    6. XM_054363868.1 → XP_054219843.1  endoplasmic reticulum metallopeptidase 1 isoform X7

    7. XM_054363865.1 → XP_054219840.1  endoplasmic reticulum metallopeptidase 1 isoform X2

    8. XM_054363869.1 → XP_054219844.1  endoplasmic reticulum metallopeptidase 1 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z2K6.2 GenPept UniProtKB/Swiss-Prot:Q7Z2K6

    Gene LinkOut

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

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