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    DAZ1 deleted in azoospermia 1 [ Homo sapiens (human) ]

    Gene ID: 1617, updated on 2-Nov-2024

    Summary

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    Official Symbol
    DAZ1provided by HGNC
    Official Full Name
    deleted in azoospermia 1provided by HGNC
    Primary source
    HGNC:HGNC:2682
    See related
    Ensembl:ENSG00000188120 MIM:400003; AllianceGenome:HGNC:2682
    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
    DAZ; SPGY
    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 three copies of the 10.8 kb repeat. However, no transcripts containing three copies of the RRM domain have been described; thus the RefSeq for this gene contains only two RRM domains. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in stomach (RPKM 43.6) and testis (RPKM 11.0) See more
    Orthologs
    all
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    Genomic context

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    See DAZ1 in Genome Data Viewer
    Location:
    Yq11.223
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) Y NC_000024.10 (23129355..23199094, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) Y NC_060948.1 (23965003..24026288, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (25275502..25345241, complement)

    Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene tripartite motif containing 60 pseudogene 9, Y-linked Neighboring gene uncharacterized LOC105377238 Neighboring gene deleted in azoospermia 2 Neighboring gene uncharacterized LOC105377239

    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. Copy number of DAZ genes in Slovenian and Bosnian general population. Writzl K, et al. Coll Antropol, 2004. PMID 15571102
    2. Localization of the DAZ gene expression in seminiferous tubules of patients with spermatogenic disorders. Szczerba A, et al. Folia Histochem Cytobiol, 2006. PMID 16805138
    3. DAZ gene copies: evidence of Y chromosome evolution. Fernandes AT, et al. Mol Hum Reprod, 2006 Aug. PMID 16777954
    4. Partial deletions are associated with an increased risk of complete deletion in AZFc: a new insight into the role of partial AZFc deletions in male infertility. Zhang F, et al. J Med Genet, 2007 Jul. PMID 17412880, Free PMC Article
    5. Partial AZFc deletions in infertile men with cryptorchidism. Giachini C, et al. Hum Reprod, 2007 Sep. PMID 17609244

    See all (75) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Y-chromosome haplogroups and Azoospermia Factor (AZF) analysis in Tunisian infertile male.
      Title: Y-chromosome haplogroups and Azoospermia Factor (AZF) analysis in Tunisian infertile male.
    2. CXCL10 Recruitment of gammadelta T Cells into the Hypoxic Bone Marrow Environment Leads to IL17 Expression and Multiple Myeloma Progression.
      Title: CXCL10 Recruitment of γδ T Cells into the Hypoxic Bone Marrow Environment Leads to IL17 Expression and Multiple Myeloma Progression.
    3. Association of DAZL polymorphisms and DAZ deletion with male infertility: a systematic review and meta-analysis.
      Title: Association of DAZL polymorphisms and DAZ deletion with male infertility: a systematic review and meta-analysis.
    4. Partial-AZFc deletions in Chilean men with primary spermatogenic impairment: gene dosage and Y-chromosome haplogroups.
      Title: Partial-AZFc deletions in Chilean men with primary spermatogenic impairment: gene dosage and Y-chromosome haplogroups.
    5. There was an increased frequency of DAZ microdeletion in blood samples from oligozoospermic and near azoospermic patients. A high frequency of DAZ microdeletion was observed in the sperm of patients with no DAZ microdeletion in their leukocytes compared to control. The results might be indicative of DAZ microdeletion induction during spermatogenesis.
      Title: High frequency of de novo DAZ microdeletion in sperm nuclei of subfertile men: possible involvement of genome instability in idiopathic male infertility.
    6. We investigated partial deletion of AZFc region and DAZ copy number in a population of Iranian infertile men and normozoospermic controls.
      Title: Analysis of partial azoospermia factor c deletion and DAZ copy number in azoospermia and severe oligozoospermia.
    7. Susceptibility of gr/gr rearrangements to azoospermia or oligozoospermia is dependent on DAZ and CDY1 gene copy deletions.
      Title: Susceptibility of gr/gr rearrangements to azoospermia or oligozoospermia is dependent on DAZ and CDY1 gene copy deletions.
    8. Overexpression of DAZ1 is associated with breast tumors.
      Title: Transcriptome analysis of the cancer/testis genes, DAZ1, AURKC, and TEX101, in breast tumors and six breast cancer cell lines.
    9. 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.
    10. We did not found any statistically significant genetic association between DAZ alleles and idiopathic male infertility
      Title: [The association between DAZ T > C polymorphism and idiopathic male infertility risk in north of Iran].
    Submit: New GeneRIF Correction See all GeneRIFs (44)

    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

    Associated conditions

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

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-10-17)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-10-17)

    ClinGen Genome Curation Page

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    Homology

    Clone Names

    • FLJ17175

    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
    		  
    enables translation activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 positive regulation of translational initiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 1
    Names
    testicular tissue protein Li 49

    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_008286.1 RefSeqGene

      Range
      5085..74738
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001388496.1 → NP_001375425.1  deleted in azoospermia protein 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC010088, AC053490
      Consensus CDS
      CCDS94718.1
      UniProtKB/TrEMBL
      E7ERQ6
      Related
      ENSP00000444407.1, ENST00000540248.5
      Conserved Domains (3) summary
      TIGR01628
      Location:40 → 273
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam18872
      Location:314 → 334
      Daz; Daz repeat
      cd12672
      Location:35 → 116
      RRM_DAZL; RNA recognition motif (RRM) found in vertebrate deleted in azoospermia-like (DAZL) proteins

    2. NM_004081.7 → NP_004072.3  deleted in azoospermia protein 1 isoform 1

      See identical proteins and their annotated locations for NP_004072.3

      Status: REVIEWED

      Source sequence(s)
      AC010088, AC053490
      Consensus CDS
      CCDS48209.1
      UniProtKB/Swiss-Prot
      Q1RMF9, Q9NQZ3, Q9NQZ4
      UniProtKB/TrEMBL
      A0A140VJH5
      Related
      ENSP00000384573.1, ENST00000405239.6
      Conserved Domains (3) summary
      TIGR01628
      Location:42 → 603
      PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family
      pfam18872
      Location:644 → 664
      Daz; Daz repeat
      cd12672
      Location:200 → 281
      RRM_DAZL; RNA recognition motif (RRM) found in vertebrate deleted in azoospermia-like (DAZL) proteins

    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
      23129355..23199094 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060948.1 Alternate T2T-CHM13v2.0

      Range
      23965003..24026288 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NQZ3.2 GenPept UniProtKB/Swiss-Prot:Q9NQZ3

    Gene LinkOut

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

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