Human Gene DAZ1 (ENST00000540248.5) Description and Page Index
  Description: deleted in azoospermia 1 (from HGNC DAZ1)
RefSeq Summary (NM_001005375): 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 two copies of the 10.8 kb repeat. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2011].
Gencode Transcript: ENST00000540248.5
Gencode Gene: ENSG00000188120.14
Transcript (Including UTRs)
   Position: hg38 chrY:23,129,362-23,199,010 Size: 69,649 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg38 chrY:23,135,210-23,198,800 Size: 63,591 Coding Exon Count: 16 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureOther SpeciesmRNA DescriptionsOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chrY:23,129,362-23,199,010)mRNA (may differ from genome)Protein (390 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
MGIPubMedStanford SOURCEWikipedia

-  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 -62.50210-0.298 Picture PostScript Text
3' UTR -390.001885-0.207 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.

-  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     
Protein SequenceProtein Sequence    

-  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).
JD048149 - Sequence 29173 from Patent EP1572962.
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.
JD549870 - Sequence 530894 from Patent EP1572962.
JD258084 - Sequence 239108 from Patent EP1572962.
U21663 - Homo sapiens DAZ protein (DAZ) mRNA, complete cds.
JD296607 - Sequence 277631 from Patent EP1572962.
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.
JD348062 - Sequence 329086 from Patent EP1572962.
AF248482 - Homo sapiens deleted in azoospermia 4 (DAZ4) mRNA, partial cds.
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.
JD128066 - Sequence 109090 from Patent EP1572962.
JD414396 - Sequence 395420 from Patent EP1572962.
JD477359 - Sequence 458383 from Patent EP1572962.
JD227828 - Sequence 208852 from Patent EP1572962.
JD080022 - Sequence 61046 from Patent EP1572962.
JD515776 - Sequence 496800 from Patent EP1572962.
JD131906 - Sequence 112930 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: LP896594, uc033fhe.1, uc033fhe.2
UCSC ID: uc033fhe.2
RefSeq Accession: NM_001005375

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