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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
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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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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 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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