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

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; 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

Location:: 8p11.22

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (39584568..39730065)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (39861797..40007263)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (39442087..39587584)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
we have determined the complete nucleotide sequence of human tMDC III cDNA , human tMDC III contains a putative integrin-binding glu-cys-asp (ECD) motif, the relevance of which is discussed in the context of a possible role in oolemma binding.
Title: Human tMDC III: a sperm protein with a potential role in oocyte recognition.

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

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 EBI GWAS CatalogPubMed

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

DXS1222 (e-PCR), detects polymorphism
- UniSTS:46539

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)

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
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
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

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