Human Gene DAZ1 (ENST00000382510.8) Description and Page Index
Description: 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. (from UniProt Q9NQZ3) RefSeq Summary (NM_004081): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: HM005362.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968968, SAMEA2142586 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Gencode Transcript: ENST00000382510.8 Gencode Gene: ENSG00000188120.14 Transcript (Including UTRs) Position: hg38 chrY:23,129,863-23,198,923 Size: 69,061 Total Exon Count: 21 Strand: - Coding Region Position: hg38 chrY:23,130,280-23,198,800 Size: 68,521 Coding Exon Count: 21
ID:DAZ1_HUMAN DESCRIPTION: RecName: Full=Deleted in azoospermia protein 1; 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. SUBUNIT: Forms a heterodimer with BOLL and DAZL. Interacts with PUM2, DAZAP1, DAZAP2, DZIP1 and DZIP3. INTERACTION: Q8TB72:PUM2; NbExp=5; IntAct=EBI-997955, EBI-311190; SUBCELLULAR LOCATION: 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. TISSUE SPECIFICITY: Testis-specific. Expression restricted to premeiotic germ cells, particularly in spermatogonia (at protein level). DOMAIN: The DAZ-like repeats are essential and mediate the interaction with DAZAP1 and DAZAP2. POLYMORPHISM: The number as well as the precise structure of the DAZ proteins probably differs within the population. DISEASE: Defects in DAZ1 may be a cause of spermatogenic failure Y-linked type 2 (SPGFY2) [MIM:415000]. It is a disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility. Note=AZFc deletions in the Yq11.23 region including the DAZ genes are the most common known genetic cause of human male infertility. 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. MISCELLANEOUS: 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. SIMILARITY: Belongs to the RRM DAZ family. SIMILARITY: Contains 9 DAZ-like domains. SIMILARITY: Contains 3 RRM (RNA recognition motif) domains. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DAZ1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9NQZ3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.