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    DAZ3 deleted in azoospermia 3 [ Homo sapiens (human) ]

    Gene ID: 57054, updated on 28-Oct-2024

    Summary

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    Official Symbol
    DAZ3provided by HGNC
    Official Full Name
    deleted in azoospermia 3provided by HGNC
    Primary source
    HGNC:HGNC:15965
    See related
    Ensembl:ENSG00000187191 MIM:400027; AllianceGenome:HGNC:15965
    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
    pDP1679
    Summary
    This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains one copy of the 10.8 kb repeat. [provided by RefSeq, Jul 2008]
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    Genomic context

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    See DAZ3 in Genome Data Viewer
    Location:
    Yq11.23
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) Y NC_000024.10 (24763069..24813393, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) Y NC_060948.1 (24046728..24099471)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (26909216..26959540, complement)

    Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene tripartite motif containing 60 pseudogene 11, Y-linked Neighboring gene uncharacterized LOC105377241 Neighboring gene deleted in azoospermia 4 Neighboring gene uncharacterized LOC105377242

    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 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. A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N. Fernandes S, et al. Am J Hum Genet, 2004 Jan. PMID 14639527, Free PMC Article
    2. Mouse autosomal homolog of DAZ, a candidate male sterility gene in humans, is expressed in male germ cells before and after puberty. Reijo R, et al. Genomics, 1996 Jul 15. PMID 8661148
    3. Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome. Saxena R, et al. Genomics, 2000 Aug 1. PMID 10936047
    4. Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome. Moro E, et al. J Clin Endocrinol Metab, 2000 Nov. PMID 11095434
    5. [Microdeletion of chromosome Y in male infertility: role of the DAZ gene]. Foresta C, et al. Ann Ital Med Int, 2001 Apr-Jun. PMID 11688365

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Studies indicate that partial RNA-binding proteins DAZ1/2 deletion was associated wih male infertility, but partial RNA-binding proteins DAZ3/4 deletion was not associated with male infertility.
      Title: Impact of partial DAZ1/2 deletion and partial DAZ3/4 deletion on male infertility.
    2. All four DAZ genes are expressed in the human testis, and their products are highly polymorphic among men
      Title: Polymorphic expression of DAZ proteins in the human testis.
    3. AZFc subdeletions do not seem to cause severe impairment of spermatogenesis in Chilean men.
      Title: AZFc partial deletions in Chilean men with severe spermatogenic failure.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: [Study on DAZ gene copy deletion in severe oligozoospermia sperm donor for ICSI].
    5. a common variant of the human Y chromosome lacks the DAZ3/DAZ4 and BPY2.2/BPY2.3 doublets in distal AZFc and thus these genes cannot be required for male fertility
      Title: A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Spermatogenic failure, Y-linked, 2
    MedGen: C1839071 OMIM: 415000 GeneReviews: Y Chromosome Infertility
    		Compare labs

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Clone Names

    • MGC126441

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables mRNA 3'-UTR binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables translation activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in 3'-UTR-mediated mRNA stabilization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of translational initiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    deleted in azoospermia protein 3

    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.

    Genomic

    1. NG_028145.1 RefSeqGene

      Range
      5100..55424
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020364.4 → NP_065097.2  deleted in azoospermia protein 3

      See identical proteins and their annotated locations for NP_065097.2

      Status: REVIEWED

      Source sequence(s)
      AC010089
      Consensus CDS
      CCDS35489.1
      UniProtKB/Swiss-Prot
      Q9NR90
      Related
      ENSP00000371802.2, ENST00000382365.7
      Conserved Domains (2) summary
      cd12672
      Location:35 → 116
      RRM_DAZL; RNA recognition motif in vertebrate deleted in azoospermia-like (DAZL) proteins
      cl25887
      Location:40 → 247
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

    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_000024.10 Reference GRCh38.p14 Primary Assembly

      Range
      24763069..24813393 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060948.1 Alternate T2T-CHM13v2.0

      Range
      24046728..24099471
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NR90.1 GenPept UniProtKB/Swiss-Prot:Q9NR90

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