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    ADAM18 ADAM metallopeptidase domain 18 [ Homo sapiens (human) ]

    Gene ID: 8749, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ADAM18provided by HGNC
    Official Full Name
    ADAM metallopeptidase domain 18provided by HGNC
    Primary source
    HGNC:HGNC:196
    See related
    Ensembl:ENSG00000168619 MIM:619495; AllianceGenome:HGNC:196
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ADAM27; tMDCIII
    Summary
    This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature sperm surface protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
    Expression
    Restricted expression toward testis (RPKM 6.7) See more
    Orthologs
    mouse all
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    Genomic context

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    See ADAM18 in Genome Data Viewer
    Location:
    8p11.22
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (39584568..39730065)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (39861797..40007263)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (39442087..39587584)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19141 Neighboring gene ADAM metallopeptidase domain 3A (pseudogene) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:39379875-39380401 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:39380402-39380927 Neighboring gene ADAM metallopeptidase domain 3A-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:39442253-39442752 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:39507922-39508516 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:39508517-39509110 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:39509111-39509704 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:39584450-39585171 Neighboring gene ADAM metallopeptidase domain 2 Neighboring gene ribosomal protein L7a pseudogene 80

    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. Human tMDC III: a sperm protein with a potential role in oocyte recognition. Frayne J, et al. Mol Hum Reprod, 2002 Sep. PMID 12200459
    2. Identification of four novel ADAMs with potential roles in spermatogenesis and fertilization. Zhu GZ, et al. Gene, 1999 Jul 8. PMID 10395895
    3. Macaque MDC family of proteins: sequence analysis, tissue distribution and processing in the male reproductive tract. Frayne J, et al. Mol Hum Reprod, 1998 May. PMID 9665629
    4. Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure. Lingappa JR, et al. PLoS One, 2011. PMID 22174851, Free PMC Article
    5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.
    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

    • MGC41836, MGC88272

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metallopeptidase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in binding of sperm to zona pellucida IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in male gonad development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    disintegrin and metalloproteinase domain-containing protein 18
    Names
    a disintegrin and metalloproteinase domain 18
    transmembrane metalloproteinase-like, disintegrin-like, and cysteine-rich protein III

    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_001190956.2 → NP_001177885.1  disintegrin and metalloproteinase domain-containing protein 18 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001177885.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks multiple 3' exons but has an alternate 3' sequence, as compared to variant 1. The resulting protein (isoform 2) is not disintegrin and metalloproteinase domain-containing protein 18, but represents an uncharacterized protein product.
      Source sequence(s)
      AC109633, BC034624, DB049415
      Consensus CDS
      CCDS55225.1
      UniProtKB/Swiss-Prot
      Q9Y3Q7
      Related
      ENSP00000429908.1, ENST00000520772.5
      Conserved Domains (1) summary
      pfam01562
      Location:47 → 141
      Pep_M12B_propep; Reprolysin family propeptide

    2. NM_001320313.2 → NP_001307242.1  disintegrin and metalloproteinase domain-containing protein 18 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (3) is shorter than isoform 1 but may undergo proteolytic processing similar to isoform 1.
      Source sequence(s)
      AC136365, AY358321, BC121046, DB046002
      Consensus CDS
      CCDS83287.1
      UniProtKB/Swiss-Prot
      Q9Y3Q7
      UniProtKB/TrEMBL
      Q0VAI3
      Related
      ENSP00000369195.1, ENST00000379866.5
      Conserved Domains (5) summary
      smart00050
      Location:375 → 452
      DISIN; Homologues of snake disintegrins
      smart00608
      Location:454 → 593
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:184 → 354
      ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...
      pfam01421
      Location:184 → 356
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:31 → 140
      Pep_M12B_propep; Reprolysin family propeptide

    3. NM_014237.3 → NP_055052.1  disintegrin and metalloproteinase domain-containing protein 18 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_055052.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes isoform 1 (disintegrin and metalloproteinase domain-containing protein 18).
      Source sequence(s)
      AC136365, AK313961, AY358321, DB049415
      Consensus CDS
      CCDS6113.1
      UniProtKB/Swiss-Prot
      B2R9Y0, Q0VAI4, Q6IRW9, Q6UXJ9, Q9Y3Q7
      Related
      ENSP00000265707.5, ENST00000265707.10
      Conserved Domains (4) summary
      smart00050
      Location:399 → 476
      DISIN; Homologues of snake disintegrins
      smart00608
      Location:478 → 617
      ACR; ADAM Cysteine-Rich Domain
      pfam01421
      Location:184 → 380
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:26 → 141
      Pep_M12B_propep; Reprolysin family propeptide

    RNA

    1. NR_135201.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC136365, AY358321, BC121046, DB046002
      Related
      ENST00000520087.5

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      39584568..39730065
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187577.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      335202..480685
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      39861797..40007263
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y3Q7.1 GenPept UniProtKB/Swiss-Prot:Q9Y3Q7

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