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

    Gene ID: 1587, updated on 10-Dec-2024

    Summary

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    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, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 9.1) See more
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    Genomic context

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    See ADAM3A in Genome Data Viewer
    Location:
    8p11.22
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (39451045..39522989, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (39728311..39800254, complement)
    RS_2024_09 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

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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. 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

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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)

    General gene information

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    Markers

    Other Names

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

    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_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_2024_08

    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

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