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

Gene ID: 8749, updated on 20-Aug-2021

Summary

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
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
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Genomic context

See ADAM18 in Genome Data Viewer
Location:
8p11.22
Exon count:
20
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (39584568..39730065)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (39442087..39587584)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ADAM metallopeptidase domain 3A (pseudogene) Neighboring gene ADAM metallopeptidase domain 3A-like Neighboring gene ADAM metallopeptidase domain 2 Neighboring gene indoleamine 2,3-dioxygenase 1

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.
GeneReviews: Not available

General gene information

Markers

Homology

Clone Names

  • MGC41836, MGC88272

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metalloendopeptidase activity IEA
Inferred from Electronic Annotation
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
PubMed 
involved_in cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
 
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane TAS
Traceable Author Statement
more info
PubMed 

General protein information

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_001190956.2NP_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:47141
    Pep_M12B_propep; Reprolysin family propeptide
  2. NM_001320313.2NP_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:375452
    DISIN; Homologues of snake disintegrins
    smart00608
    Location:454593
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:184354
    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:184356
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:31140
    Pep_M12B_propep; Reprolysin family propeptide
  3. NM_014237.3NP_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
    Q9Y3Q7
    Related
    ENSP00000265707.5, ENST00000265707.10
    Conserved Domains (4) summary
    smart00050
    Location:399476
    DISIN; Homologues of snake disintegrins
    smart00608
    Location:478617
    ACR; ADAM Cysteine-Rich Domain
    pfam01421
    Location:184380
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:26141
    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: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187577.1 Reference GRCh38.p13 ALT_REF_LOCI_1

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