U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

ADAM3A ADAM metallopeptidase domain 3A (pseudogene) [ Homo sapiens (human) ]

Gene ID: 1587, updated on 16-Jan-2024

Summary

Go to the top of the page Help
Official Symbol
ADAM3Aprovided by HGNC
Official Full Name
ADAM metallopeptidase domain 3A (pseudogene)provided by HGNC
Primary source
HGNC:HGNC:209
See related
Ensembl:ENSG00000293380 AllianceGenome:HGNC:209
Gene type
pseudo
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ADAM3; CYRN1; tMDCI
Summary
Predicted to be involved in fertilization and flagellated sperm motility. Predicted to act upstream of or within binding activity of sperm to zona pellucida; positive regulation of gene expression; and regulation of mRNA processing. Predicted to be located in several cellular components, including cell surface; membrane raft; and sperm head. Predicted to be part of protein-containing complex. Implicated in brain glioma and conjunctival squamous cell carcinoma. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 9.1) See more
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See ADAM3A in Genome Data Viewer
Location:
8p11.22
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (39451045..39522989, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (39728311..39800254, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (39308564..39380508, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene lysine acetyltransferase 2B pseudogene Neighboring gene ADAM metallopeptidase domain 5 (pseudogene) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19141 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 ADAM metallopeptidase domain 18 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

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. ADAM3A copy number gains occur in a subset of conjunctival squamous cell carcinoma and its high grade precursors. Vizcaino MA, et al. Hum Pathol, 2019 Dec. PMID 31493427, Free PMC Article
  2. Association of ADAM33 gene polymorphisms with keloid scars in a northeastern Chinese population. Han J, et al. Cell Physiol Biochem, 2014. PMID 25201121
  3. Association of Inherited Copy Number Variation in ADAM3A and ADAM5 Pseudogenes with Oropharynx Cancer Risk and Outcome. Carron J, et al. Genes (Basel), 2022 Dec 19. PMID 36553675, Free PMC Article
  4. Identification of multiple DNA copy number alterations including frequent 8p11.22 amplification in conjunctival squamous cell carcinoma. Asnaghi L, et al. Invest Ophthalmol Vis Sci, 2014 Dec 9. PMID 25491297, Free PMC Article
  5. Homozygous loss of ADAM3A revealed by genome-wide analysis of pediatric high-grade glioma and diffuse intrinsic pontine gliomas. Barrow J, et al. Neuro Oncol, 2011 Feb. PMID 21138945, Free PMC Article

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Association of Inherited Copy Number Variation in ADAM3A and ADAM5 Pseudogenes with Oropharynx Cancer Risk and Outcome.
    Title: Association of Inherited Copy Number Variation in ADAM3A and ADAM5 Pseudogenes with Oropharynx Cancer Risk and Outcome.
  2. Gains of ADAM3A/chromosome 8 occur in a subset of conjunctival squamous cell carcinomas and its precursors.
    Title: ADAM3A copy number gains occur in a subset of conjunctival squamous cell carcinoma and its high grade precursors.
  3. ADAM3A, or nearby regulatory elements, may be involved in the etiology of oral clefts.
    Title: A genome-wide study of inherited deletions identified two regions associated with nonsyndromic isolated oral clefts.
  4. data suggest that the ADAM33 polymorphisms may be associated with keloid scars in the northeastern Chinese population
    Title: Association of ADAM33 gene polymorphisms with keloid scars in a northeastern Chinese population.
  5. Amplification of 8p11.22 and overexpression of ADAM3A suggests a potential role for this protease in conjunctival squamous cell carcinoma.
    Title: Identification of multiple DNA copy number alterations including frequent 8p11.22 amplification in conjunctival squamous cell carcinoma.
  6. Homozygous loss of ADAM3A is associated with pediatric high-grade glioma and diffuse intrinsic pontine gliomas.
    Title: Homozygous loss of ADAM3A revealed by genome-wide analysis of pediatric high-grade glioma and diffuse intrinsic pontine gliomas.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

Go to the top of the page Help

Markers

Other Names

  • a disintegrin and metalloproteinase domain 3a (cyritestin 1)
  • cyritestin 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001569.3 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate internal exon, compared to variant 4.
    Source sequence(s)
    AC106011, AJ005372, BG717260, HY234081, X89654
    Related
    ENST00000495171.6

  2. NR_024106.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate internal exon, compared to variant 4.
    Source sequence(s)
    AC106011, AK308250, BG717260, HY234081, X89655
    Related
    ENST00000481351.6

  3. NR_024107.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) uses an alternate internal splice site, compared to variant 4.
    Source sequence(s)
    AC106011, AC123767, BC025386, BG717260, HY234081, X89654
    Related
    ENST00000460383.6

  4. NR_073423.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) represents the longest variant.
    Source sequence(s)
    AC106011, AC123767, BC025386, BG717260, HY234081, X89657
    Related
    ENST00000490268.6

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
    39451045..39522989 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    39728311..39800254 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.