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Aliases for DAZ1 Gene

Aliases for DAZ1 Gene

  • Deleted In Azoospermia 1 2 3
  • DAZ 3 4 6
  • SPGY 3 4
  • Deleted In Azoospermia Protein 1 3
  • Deleted In Azoospermia 2

External Ids for DAZ1 Gene

Previous Symbols for DAZ1 Gene

  • DAZ

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 azoospermia and y chromosome infertility. Among its related pathways are Translational Control. GO annotations related to this gene include RNA binding and translation activator activity. An important paralog of this gene is DAZL.

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

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

Genomics for DAZ1 Gene

Genomic Location for DAZ1 Gene

Start:
23,129,355 bp from pter
End:
23,199,094 bp from pter
Size:
69,740 bases
Orientation:
Minus strand

Genomic View for DAZ1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DAZ1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DAZ1 Gene

Regulatory Elements for DAZ1 Gene

Proteins for DAZ1 Gene

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

    Protein Symbol:
    Q9NQZ3-DAZ1_HUMAN
    Recommended name:
    Deleted in azoospermia protein 1
    Protein Accession:
    Q9NQZ3
    Secondary Accessions:
    • Q1RMF9
    • Q9NQZ4

    Protein attributes for DAZ1 Gene

    Size:
    744 amino acids
    Molecular mass:
    82764 Da
    Quaternary structure:
    • Forms a heterodimer with BOLL and DAZL. Interacts with PUM2, DAZAP1, DAZAP2, DZIP1 and DZIP3.
    Miscellaneous:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for DAZ1 Gene

Proteomics data for DAZ1 Gene at MOPED

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 for DAZ1 Gene

Gene Families for DAZ1 Gene

HGNC:
  • RBM :RNA binding motif (RRM) containing

Protein Domains for DAZ1 Gene

UniProtKB/Swiss-Prot:

DAZ1_HUMAN
Domain:
  • The DAZ-like repeats are essential and mediate the interaction with DAZAP1 and DAZAP2:
    • Q9NQZ3
  • Contains 9 DAZ-like domains.:
    • Q9NQZ3
  • Contains 3 RRM (RNA recognition motif) domains.:
    • Q9NQZ3
Family:
  • Belongs to the RRM DAZ family.:
    • Q9NQZ3
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:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding --
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 12511597
GO:0008494 translation activator activity IDA 16001084
genes like me logo Genes that share ontologies with DAZ1: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for DAZ1 Gene COMPARTMENTS Subcellular localization image for DAZ1 gene
Compartment Confidence
nucleus 5
cytosol 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for DAZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with DAZ1: view

Pathways for DAZ1 Gene

SuperPathways for DAZ1 Gene

Superpath 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 organismal 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

Compounds for DAZ1 Gene

(1) Novoseek inferred chemical compound relationships for DAZ1 Gene

Compound -log(P) Hits PubMed IDs
testosterone 14 1
genes like me logo Genes that share compounds with DAZ1: view

Transcripts for DAZ1 Gene

Unigene Clusters for DAZ1 Gene

Deleted in azoospermia 1:
Representative Sequences:

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

No ASD Table

Relevant External Links for DAZ1 Gene

GeneLoc Exon Structure for
DAZ1
ECgene alternative splicing isoforms for
DAZ1

Expression for DAZ1 Gene

mRNA expression in normal human tissues for DAZ1 Gene

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

This gene is overexpressed in Testis (28.9), Stomach (13.3), and Skin - Not Sun Exposed (Suprapubic) (4.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for DAZ1 Gene

SOURCE GeneReport for Unigene cluster for DAZ1 Gene Hs.70936

mRNA Expression by UniProt/SwissProt for DAZ1 Gene

Q9NQZ3-DAZ1_HUMAN
Tissue specificity: Testis-specific. Expression restricted to premeiotic germ cells, particularly in spermatogonia (at protein level).
genes like me logo Genes that share expressions with DAZ1: view

Orthologs for DAZ1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DAZ1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DAZ 37
  • 68 (a)
ManyToMany
DAZ 37
  • 87 (a)
ManyToMany
DAZ 37
  • 90 (a)
ManyToMany
DAZ 37
  • 67 (a)
ManyToMany
DAZ1 36
  • 95.17 (n)
  • 90.39 (a)
cow
(Bos Taurus)
Mammalia DAZL 37
  • 58 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 37
  • 46 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 55 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 45 (a)
OneToMany
chicken
(Gallus gallus)
Aves DAZL 37
  • 46 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 46 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii dazl 37
  • 37 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta bol 37
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea daz-1 37
  • 16 (a)
OneToMany
Species with no ortholog for DAZ1:
  • 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

ENSEMBL:
Gene Tree for DAZ1 (if available)
TreeFam:
Gene Tree for DAZ1 (if available)

Paralogs for DAZ1 Gene

Paralogs for DAZ1 Gene

Selected SIMAP similar genes for DAZ1 Gene using alignment to 4 proteins:

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

Variants for DAZ1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for DAZ1 Gene

Q9NQZ3-DAZ1_HUMAN
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 Sequence Context AA Info Type MAF
rs218552 -- 23,182,776(+) CCTAA(C/T)TCTTT intron-variant
rs218554 -- 23,188,409(+) ATTAT(C/T)GGTCA intron-variant
rs308280 -- 23,200,819(+) AGGAA(A/T)AAAAT upstream-variant-2KB
rs75032343 -- 23,165,985(+) GAGTA(A/G)TTAAC intron-variant
rs111456076 -- 23,161,205(+) TTTCT(G/T)TTTCT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2504e1 CNV Complex 17122850
dgv2505e1 CNV Complex 17122850
dgv2506e1 CNV Complex 17122850
nsv10034 CNV Loss 18304495
essv10843 CNV CNV 17122850

Relevant External Links for DAZ1 Gene

HapMap Linkage Disequilibrium report
DAZ1
Human Gene Mutation Database (HGMD)
DAZ1

Disorders for DAZ1 Gene

UniProtKB/Swiss-Prot

DAZ1_HUMAN
  • 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.

(4) University of Copenhagen DISEASES for DAZ1 Gene

(7) Novoseek inferred disease relationships for DAZ1 Gene

Disease -log(P) Hits PubMed IDs
azoospermia 95 67
oligozoospermia 92.7 21
infertility male 89 19
chromosome deletion 76.8 2
infertility 69.3 7

Relevant External Links for DAZ1

GeneTests
DAZ1
GeneReviews
DAZ1
Genetic Association Database (GAD)
DAZ1
Human Genome Epidemiology (HuGE) Navigator
DAZ1
genes like me logo Genes that share disorders with DAZ1: view

Publications for DAZ1 Gene

  1. High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia. (PMID: 11870237) Fernandes S. … Vogt P.H. (Mol. Hum. Reprod. 2002) 3 4 23 49
  2. DAZ family proteins exist throughout male germ cell development and transit from nucleus to cytoplasm at meiosis in humans and mice. (PMID: 11058556) Reijo R.A. … Page D.C. (Biol. Reprod. 2000) 3 4 23
  3. Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome. (PMID: 11095434) Moro E. … Foresta C. (J. Clin. Endocrinol. Metab. 2000) 3 4 23
  4. A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans. (PMID: 11390979) Xu E.Y. … Reijo Pera R.A. (Proc. Natl. Acad. Sci. U.S.A. 2001) 3 4 23
  5. Human Pumilio-2 is expressed in embryonic stem cells and germ cells and interacts with DAZ (Deleted in AZoospermia) and DAZ-like proteins. (PMID: 12511597) Moore F.L. … Reijo Pera R.A. (Proc. Natl. Acad. Sci. U.S.A. 2003) 3 4 23

Products for DAZ1 Gene

Sources for DAZ1 Gene

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