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 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrY:23,129,863-23,198,923)mRNA (may differ from genome)Protein (613 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
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-  Comments and Description Text from UniProtKB
  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";

-  MalaCards Disease Associations
  MalaCards Gene Search: DAZ1
Diseases sorted by gene-association score: azoospermia (92), male infertility (49), infertility (20), male reproductive system disease (19), sertoli cell-only syndrome (15), y chromosome infertility (12), phelan-mcdermid syndrome (11), reproductive system disease (11), spermatogenic failure, y-linked, 2 (10), partial deletion of y* (9), cryptorchidism (8), oligospermia (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.52 RPKM in Testis
Total median expression: 0.54 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -34.40123-0.280 Picture PostScript Text
3' UTR -99.10417-0.238 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012677 - Nucleotide-bd_a/b_plait
IPR000504 - RRM_dom

Pfam Domains:
PF00076 - RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)

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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
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Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0003729 mRNA binding
GO:0003730 mRNA 3'-UTR binding
GO:0005515 protein binding
GO:0008494 translation activator activity

Biological Process:
GO:0007275 multicellular organism development
GO:0007281 germ cell development
GO:0007283 spermatogenesis
GO:0030154 cell differentiation
GO:0045948 positive regulation of translational initiation
GO:0070935 3'-UTR-mediated mRNA stabilization

Cellular Component:
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  LP896594 - Sequence 1458 from Patent EP3253886.
BC047617 - Homo sapiens deleted in azoospermia 4, mRNA (cDNA clone MGC:50967 IMAGE:4836748), complete cds.
BC047480 - Homo sapiens deleted in azoospermia 4, mRNA (cDNA clone MGC:50968 IMAGE:5297459), complete cds.
U66077 - Human DAZ mRNA, 3'UTR.
AL833003 - Homo sapiens mRNA; cDNA DKFZp666C074 (from clone DKFZp666C074).
BC114927 - Homo sapiens deleted in azoospermia 1, mRNA (cDNA clone MGC:134806 IMAGE:40028543), complete cds.
JD566060 - Sequence 547084 from Patent EP1572962.
JD057970 - Sequence 38994 from Patent EP1572962.
JD089229 - Sequence 70253 from Patent EP1572962.
JD089230 - Sequence 70254 from Patent EP1572962.
JD144242 - Sequence 125266 from Patent EP1572962.
JD323893 - Sequence 304917 from Patent EP1572962.
JD554593 - Sequence 535617 from Patent EP1572962.
AK310133 - Homo sapiens cDNA, FLJ17175.
JD324204 - Sequence 305228 from Patent EP1572962.
JD127403 - Sequence 108427 from Patent EP1572962.
JD264206 - Sequence 245230 from Patent EP1572962.
JD242302 - Sequence 223326 from Patent EP1572962.
JD357038 - Sequence 338062 from Patent EP1572962.
KJ905188 - Synthetic construct Homo sapiens clone ccsbBroadEn_14611 DAZ1 gene, encodes complete protein.
U21663 - Homo sapiens DAZ protein (DAZ) mRNA, complete cds.
AF271088 - Homo sapiens deleted in azoospermia (DAZ) mRNA, partial cds.
AF271087 - Homo sapiens deleted in azoospermia (DAZ) precursor RNA, partial cds.
HM005362 - Homo sapiens clone HTL-T-49 testicular tissue protein Li 49 mRNA, complete cds.
AF248483 - Homo sapiens deleted in azoospermia 4 (DAZ4) mRNA, partial cds.
KJ894398 - Synthetic construct Homo sapiens clone ccsbBroadEn_03792 DAZ4 gene, encodes complete protein.
CU690438 - Synthetic construct Homo sapiens gateway clone IMAGE:100020883 5' read DAZ4 mRNA.
JD143099 - Sequence 124123 from Patent EP1572962.
AF248482 - Homo sapiens deleted in azoospermia 4 (DAZ4) mRNA, partial cds.
JD143099 - Sequence 124123 from Patent EP1572962.
JD143099 - Sequence 124123 from Patent EP1572962.
JD151472 - Sequence 132496 from Patent EP1572962.
JD434268 - Sequence 415292 from Patent EP1572962.
JD319116 - Sequence 300140 from Patent EP1572962.
JD162760 - Sequence 143784 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: DAZ, DAZ1_HUMAN, LP896594, Q9NQZ3, Q9NQZ4, SPGY, uc065cuz.1
UCSC ID: uc065cuz.1
RefSeq Accession: NM_004081
Protein: Q9NQZ3 (aka DAZ1_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.