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Aliases for DAZ1 Gene

Aliases for DAZ1 Gene

  • Deleted In Azoospermia 1 2 3 5
  • SPGY 3 4
  • DAZ 3 4
  • Deleted In Azoospermia Protein 1 3
  • Testicular Tissue Protein Li 49 3
  • Deleted In Azoospermia 2

External Ids for DAZ1 Gene

Previous HGNC Symbols for DAZ1 Gene

  • DAZ

Previous GeneCards Identifiers for DAZ1 Gene

  • GC0YP023708
  • GC0YP023710
  • GC0YP023712
  • GC0YM023684
  • GC0YM025275

Summaries for DAZ1 Gene

Entrez Gene Summary for DAZ1 Gene

  • 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]

GeneCards Summary for DAZ1 Gene

DAZ1 (Deleted In Azoospermia 1) is a Protein Coding gene. Diseases associated with DAZ1 include Spermatogenic Failure, Y-Linked, 2 and Azoospermia. Among its related pathways are Translational Control. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is DAZ3.

UniProtKB/Swiss-Prot for DAZ1 Gene

  • RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3-UTR of mRNAs and regulating their translation. Promotes germ-cell progression to meiosis and formation of haploid germ cells.

Gene Wiki entry for DAZ1 Gene

Additional gene information for DAZ1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DAZ1 Gene

Genomics for DAZ1 Gene

GeneHancer (GH) Regulatory Elements for DAZ1 Gene

Top Transcription factor binding sites by QIAGEN in the DAZ1 gene promoter:
  • SRY
  • MEF-2A
  • aMEF-2
  • p53
  • POU2F1a
  • POU2F1
  • RSRFC4
  • FOXO4
  • Max1
  • c-Myc

Genomic Locations for DAZ1 Gene

Genomic Locations for DAZ1 Gene
69,769 bases
Minus strand
69,740 bases
Minus strand

Genomic View for DAZ1 Gene

Genes around DAZ1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DAZ1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DAZ1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DAZ1 Gene

Proteins for DAZ1 Gene

  • Protein details for DAZ1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Deleted in azoospermia protein 1
    Protein Accession:
    Secondary Accessions:
    • Q1RMF9
    • Q9NQZ4

    Protein attributes for DAZ1 Gene

    744 amino acids
    Molecular mass:
    82764 Da
    Quaternary structure:
    • Forms a heterodimer with BOLL and DAZL. Interacts with PUM2, DAZAP1, DAZAP2, DZIP1 and DZIP3.
    • DAZ genes are prone to deletions but also to duplications. In a population of infertile men, DAZ genes deletions are associated with oligozoospermia but an increased number of DAZ genes is not a significant risk factor for spermatogenic failure.
    • The DAZ proteins (DAZ, DAZ2, DAZ4 and DAZ4) are all encoded by a strongly repeated region of the Y chromosome, in two clusters each comprising an inverted pair of DAZ genes. They are very similar, which gives their indidual characterization difficult. Thus, most experiments do not discriminate between the different members. One can therefore suppose that reported interactions with a DAZ protein involve all the 4 proteins.

    Alternative splice isoforms for DAZ1 Gene


neXtProt entry for DAZ1 Gene

Post-translational modifications for DAZ1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DAZ1 Gene

No data available for DME Specific Peptides for DAZ1 Gene

Domains & Families for DAZ1 Gene

Gene Families for DAZ1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry



  • The DAZ-like repeats are essential and mediate the interaction with DAZAP1 and DAZAP2.
  • Belongs to the RRM DAZ family.
  • The DAZ-like repeats are essential and mediate the interaction with DAZAP1 and DAZAP2.
  • Belongs to the RRM DAZ family.
genes like me logo Genes that share domains with DAZ1: view

Function for DAZ1 Gene

Molecular function for DAZ1 Gene

UniProtKB/Swiss-Prot Function:
RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3-UTR of mRNAs and regulating their translation. Promotes germ-cell progression to meiosis and formation of haploid germ cells.

Gene Ontology (GO) - Molecular Function for DAZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0003729 mRNA binding IEA --
GO:0003730 mRNA 3-UTR binding IEA,IBA --
GO:0005515 protein binding IPI 10857750
GO:0008494 translation activator activity IDA 16001084
genes like me logo Genes that share ontologies with DAZ1: view
genes like me logo Genes that share phenotypes with DAZ1: view

Human Phenotype Ontology for DAZ1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DAZ1 Gene

Localization for DAZ1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DAZ1 Gene

Cytoplasm. Nucleus. Note=Predominantly cytoplasmic. Nuclear at some stages of spermatozoide development. Localizes both to the nuclei and cytoplasm of spermatozoide differentiation. Nuclear in fetal gonocytes and in spermatogonial nuclei. It then relocates to the cytoplasm during male meiosis.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DAZ1 gene
Compartment Confidence
nucleus 4

Gene Ontology (GO) - Cellular Components for DAZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 11390979
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IBA --
GO:0032991 protein-containing complex IDA 10857750
genes like me logo Genes that share ontologies with DAZ1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DAZ1 Gene

Pathways & Interactions for DAZ1 Gene

SuperPathway Contained pathways
1 Translational Control
genes like me logo Genes that share pathways with DAZ1: view

Pathways by source for DAZ1 Gene

1 Cell Signaling Technology pathway for DAZ1 Gene

Gene Ontology (GO) - Biological Process for DAZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007281 germ cell development IEA --
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
GO:0045948 positive regulation of translational initiation IDA 16001084
genes like me logo Genes that share ontologies with DAZ1: view

No data available for SIGNOR curated interactions for DAZ1 Gene

Drugs & Compounds for DAZ1 Gene

(1) Drugs for DAZ1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with DAZ1: view

Transcripts for DAZ1 Gene

mRNA/cDNA for DAZ1 Gene

(3) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DAZ1 Gene

Deleted in azoospermia 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DAZ1 Gene

No ASD Table

Relevant External Links for DAZ1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DAZ1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DAZ1 Gene

mRNA differential expression in normal tissues according to GTEx for DAZ1 Gene

This gene is overexpressed in Testis (x28.9), Stomach (x13.3), and Skin - Not Sun Exposed (Suprapubic) (x4.9).

Protein differential expression in normal tissues from HIPED for DAZ1 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DAZ1 Gene

Protein tissue co-expression partners for DAZ1 Gene

NURSA nuclear receptor signaling pathways regulating expression of DAZ1 Gene:


SOURCE GeneReport for Unigene cluster for DAZ1 Gene:


mRNA Expression by UniProt/SwissProt for DAZ1 Gene:

Tissue specificity: Testis-specific. Expression restricted to premeiotic germ cells, particularly in spermatogonia (at protein level).

Phenotype-based relationships between genes and organs from Gene ORGANizer for DAZ1 Gene

Germ Layers:
  • mesoderm
  • reproductive
  • testicle
genes like me logo Genes that share expression patterns with DAZ1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Evidence on tissue expression from TISSUES for DAZ1 Gene

Orthologs for DAZ1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DAZ1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DAZ1 33
  • 95.17 (n)
DAZ 34 34 34 34
  • 90 (a)
(Bos Taurus)
Mammalia DAZL 34
  • 58 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 55 (a)
(Canis familiaris)
Mammalia -- 34
  • 46 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 45 (a)
(Gallus gallus)
Aves DAZL 34
  • 46 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 46 (a)
(Danio rerio)
Actinopterygii dazl 34
  • 37 (a)
fruit fly
(Drosophila melanogaster)
Insecta bol 34
  • 23 (a)
(Caenorhabditis elegans)
Secernentea daz-1 34
  • 16 (a)
Species where no ortholog for DAZ1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for DAZ1 Gene

Gene Tree for DAZ1 (if available)
Gene Tree for DAZ1 (if available)

Paralogs for DAZ1 Gene

Paralogs for DAZ1 Gene

(5) SIMAP similar genes for DAZ1 Gene using alignment to 4 proteins:

  • Q6S4N0_HUMAN
  • Q96P42_HUMAN Pseudogenes for DAZ1 Gene

genes like me logo Genes that share paralogs with DAZ1: view

Variants for DAZ1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for DAZ1 Gene

The number as well as the precise structure of the DAZ proteins probably differs within the population.

Sequence variations from dbSNP and Humsavar for DAZ1 Gene

SNP ID Clin Chr 0Y pos Variation AA Info Type
rs111456076 -- 23,161,205(-) G/T intron_variant
rs111670989 -- 23,167,997(-) C/T intron_variant
rs113162688 -- 23,154,448(-) T/A intron_variant
rs1273341 -- 23,154,441(-) T/C intron_variant
rs201169188 -- 23,155,651(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DAZ1 Gene

Variant ID Type Subtype PubMed ID
dgv2560e212 CNV gain 25503493
esv3577610 CNV gain 25503493
nsv10034 CNV loss 18304495
nsv1113054 CNV deletion 24896259

Additional Variant Information for DAZ1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Variation tolerance for DAZ1 Gene

Disorders for DAZ1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for DAZ1 Gene - From: HGMD, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spermatogenic failure, y-linked, 2
  • spgfy2
  • spermatogenic failure
male infertility
  • infertility male
male reproductive system disease
  • genital diseases, male
spermatogenic failure, x-linked, 1
  • spgfx1
- elite association - COSMIC cancer census association via MalaCards
Search DAZ1 in MalaCards View complete list of genes associated with diseases


  • Spermatogenic failure Y-linked 2 (SPGFY2) [MIM:415000]: A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility. {ECO:0000269 PubMed:11095434, ECO:0000269 PubMed:11870237, ECO:0000269 PubMed:12801575}. Note=The disease may be caused by mutations affecting the gene represented in this entry. AZFc deletions in the Yq11.23 region including the DAZ genes are the most common known genetic cause of human male infertility.

Additional Disease Information for DAZ1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DAZ1: view

No data available for Genatlas for DAZ1 Gene

Publications for DAZ1 Gene

  1. High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia. (PMID: 11870237) Fernandes S … Vogt PH (Molecular human reproduction 2002) 3 4 22 44 58
  2. Human DAZL, DAZ and BOULE genes modulate primordial germ-cell and haploid gamete formation. (PMID: 19865085) Kee K … Reijo Pera RA (Nature 2009) 3 4 22 58
  3. Restricted expression of the human DAZ protein in premeiotic germ cells. (PMID: 18385127) Huang WJ … Yen PH (Human reproduction (Oxford, England) 2008) 3 4 22 58
  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. (PMID: 17412880) Zhang F … Jin L (Journal of medical genetics 2007) 3 22 44 58
  5. Preliminary study of the relationship between DAZ gene copy deletions and spermatogenic impairment in Chinese men. (PMID: 16580401) Yang Y … Zhang S (Fertility and sterility 2006) 3 22 44 58

Products for DAZ1 Gene

Sources for DAZ1 Gene

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