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    DAZL deleted in azoospermia like [ Homo sapiens (human) ]

    Gene ID: 1618, updated on 10-Dec-2024

    Summary

    Official Symbol
    DAZLprovided by HGNC
    Official Full Name
    deleted in azoospermia likeprovided by HGNC
    Primary source
    HGNC:HGNC:2685
    See related
    Ensembl:ENSG00000092345 MIM:601486; AllianceGenome:HGNC:2685
    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
    DAZH; DAZL1; DAZLA; SPGYLA
    Summary
    The DAZ (Deleted in AZoospermia) gene family encodes potential RNA binding proteins that are expressed in prenatal and postnatal germ cells of males and females. The protein encoded by this gene is localized to the nucleus and cytoplasm of fetal germ cells and to the cytoplasm of developing oocytes. In the testis, this protein is localized to the nucleus of spermatogonia but relocates to the cytoplasm during meiosis where it persists in spermatids and spermatozoa. Transposition and amplification of this autosomal gene during primate evolution gave rise to the DAZ gene cluster on the Y chromosome. Mutations in this gene have been linked to severe spermatogenic failure and infertility in males. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
    Expression
    Restricted expression toward testis (RPKM 49.0) See more
    Orthologs
    NEW
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    Genomic context

    See DAZL in Genome Data Viewer
    Location:
    3p24.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (16586792..16605423, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (16587918..16606550, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (16628299..16646930, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene raftlin, lipid raft linker 1 Neighboring gene uncharacterized LOC124906219 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:16524187-16525039 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19546 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19547 Neighboring gene NANOG hESC enhancer GRCh37_chr3:16539919-16540420 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19549 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19551 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14118 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14117 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:16556589-16556764 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14119 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:16557992-16558492 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:16558493-16558993 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19552 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:16577170-16577365 Neighboring gene long intergenic non-protein coding RNA 690 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:16699444-16700249 Neighboring gene Sharpr-MPRA regulatory region 448 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:16712625-16713593 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:16717988-16718488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:16718489-16718989 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:16728537-16729494 Neighboring gene chromodomain Y-like protein Neighboring gene NANOG hESC enhancer GRCh37_chr3:16738083-16738584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19553 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:16739803-16740450 Neighboring gene CDYL pseudogene 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:16791041-16791542 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:16810328-16810902 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr3:16830630-16831603 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19555 Neighboring gene uncharacterized LOC105376972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:16924592-16925300 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14120

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (35 hits/1254 screens)

    EBI GWAS Catalog

    Description
    Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • MGC26406

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding PubMed 
    enables mRNA 3'-UTR binding  
    enables protein binding PubMed 
    enables translation activator activity  
    enables translation activator activity PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm  
    located_in nucleus  
    part_of protein-containing complex PubMed 

    General protein information

    Preferred Names
    deleted in azoospermia-like
    Names
    DAZ homolog
    DAZ-like autosomal
    SPGY-like-autosomal
    deleted in azoospermia-like 1
    germline specific RNA binding protein
    spermatogenesis gene on the Y-like autosomal
    testis secretory sperm-binding protein Li 204a

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_023329.1 RefSeqGene

      Range
      5077..23708
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001190811.2NP_001177740.1  deleted in azoospermia-like isoform 1

      See identical proteins and their annotated locations for NP_001177740.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK303026, AK310341, BX648638
      Consensus CDS
      CCDS54556.1
      UniProtKB/Swiss-Prot
      Q92904
      Related
      ENSP00000250863.8, ENST00000250863.12
      Conserved Domains (1) summary
      cd12672
      Location:55136
      RRM_DAZL; RNA recognition motif in vertebrate deleted in azoospermia-like (DAZL) proteins
    2. NM_001351.4NP_001342.2  deleted in azoospermia-like isoform 2

      See identical proteins and their annotated locations for NP_001342.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 2.
      Source sequence(s)
      BC027595, BX648638, DB080081
      Consensus CDS
      CCDS43059.1
      UniProtKB/Swiss-Prot
      O15396, Q5HYB4, Q92904, Q92909
      UniProtKB/TrEMBL
      A0A140VK77
      Related
      ENSP00000382373.3, ENST00000399444.7
      Conserved Domains (1) summary
      cd12672
      Location:35116
      RRM_DAZL; RNA recognition motif 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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      16586792..16605423 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      16587918..16606550 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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