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    MMP23A matrix metallopeptidase 23A (pseudogene) [ Homo sapiens (human) ]

    Gene ID: 8511, updated on 22-Oct-2024

    Summary

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    Official Symbol
    MMP23Aprovided by HGNC
    Official Full Name
    matrix metallopeptidase 23A (pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:7170
    See related
    Ensembl:ENSG00000310190 MIM:603320; AllianceGenome:HGNC:7170
    Gene type
    pseudo
    RefSeq status
    PROVISIONAL
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MIFR; MMP21; MIFR-1
    Summary
    This locus represents the partially duplicated copy of the MMP23B gene, and therefore considered a pseudogene. This pseudogene is part of a duplicated region of chromosome 1p36.3. It belongs to the more centromeric copy of the duplicated region. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in placenta (RPKM 8.0), prostate (RPKM 6.2) and 20 other tissues See more
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    Genomic context

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    See MMP23A in Genome Data Viewer
    Location:
    1p36.33
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (1699939..1701808)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (1134371..1136240)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1631378..1633247)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene cyclin dependent kinase 11B Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1590308-1591030 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30 Neighboring gene solute carrier family 35 member E2B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1601211-1601711 Neighboring gene ribosomal protein S7 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 31 Neighboring gene Sharpr-MPRA regulatory region 10763 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:1618619-1618776 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1619919-1620419 Neighboring gene Sharpr-MPRA regulatory region 15043 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 88 Neighboring gene cyclin dependent kinase 11A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 32 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1655889-1656728 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1660738-1661238 Neighboring gene solute carrier family 35 member E2A (pseudogene) Neighboring gene ribosomal protein S7 pseudogene

    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. Potassium channel modulation by a toxin domain in matrix metalloprotease 23. Rangaraju S, et al. J Biol Chem, 2010 Mar 19. PMID 19965868, Free PMC Article
    2. Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure. Gajecka M, et al. Eur J Hum Genet, 2005 Feb. PMID 15483646
    3. Cloning and characterization of a rat ortholog of MMP-23 (matrix metalloproteinase-23), a unique type of membrane-anchored matrix metalloproteinase and conditioned switching of its expression during the ovarian follicular development. Ohnishi J, et al. Mol Endocrinol, 2001 May. PMID 11328856
    4. Cloning and characterization of human MMP-23, a new matrix metalloproteinase predominantly expressed in reproductive tissues and lacking conserved domains in other family members. Velasco G, et al. J Biol Chem, 1999 Feb 19. PMID 9988691
    5. Isolation and characterization of two novel metalloproteinase genes linked to the Cdc2L locus on human chromosome 1p36.3. Gururajan R, et al. Genomics, 1998 Aug 15. PMID 9740677

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. analysis of potassium channel modulation by a toxin domain in matrix metalloprotease 23
      Title: Potassium channel modulation by a toxin domain in matrix metalloprotease 23.
    2. Compares rat and mouse proteins, describes unique type II topology, and suggests a role in reproductive processes.
      Title: Cloning and characterization of a rat ortholog of MMP-23 (matrix metalloproteinase-23), a unique type of membrane-anchored matrix metalloproteinase and conditioned switching of its expression during the ovarian follicular development.
    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 studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    General gene information

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    Markers

    Other Names

    • femalysin
    • matrix metalloproteinase 21
    • matrix metalloproteinase 23 pseudogene
    • matrix metalloproteinase 23A
    • matrix metalloproteinase in the female reproductive tract

    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.

    RNA

    1. NR_002946.1 RNA Sequence

      Status: PROVISIONAL

      Source sequence(s)
      AL031282
      Related
      ENST00000848010.1

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      1699939..1701808
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      1134371..1136240
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_004659.1: Suppressed sequence

      Description
      NM_004659.1: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.
    Nucleotide Protein
    Heading Accession and Version

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