Human Gene DAZAP1 (ENST00000233078.9) from GENCODE V44
  Description: Homo sapiens DAZ associated protein 1 (DAZAP1), transcript variant 2, mRNA. (from RefSeq NM_018959)
RefSeq Summary (NM_018959): In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. A high percentage of infertile men have deletions that map to regions of the Y chromosome. The DAZ (deleted in azoospermia) gene cluster maps to the AZFc region of the Y chromosome and is deleted in many azoospermic and severely oligospermic men. It is thought that the DAZ gene cluster arose from the transposition, amplification, and pruning of the ancestral autosomal gene DAZL also involved in germ cell development and gametogenesis. This gene encodes a RNA-binding protein with two RNP motifs that was originally identified by its interaction with the infertility factors DAZ and DAZL. Two isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000233078.9
Gencode Gene: ENSG00000071626.17
Transcript (Including UTRs)
   Position: hg38 chr19:1,407,586-1,435,684 Size: 28,099 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg38 chr19:1,407,774-1,434,912 Size: 27,139 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:1,407,586-1,435,684)mRNA (may differ from genome)Protein (407 aa)
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DAZP1_HUMAN
DESCRIPTION: RecName: Full=DAZ-associated protein 1; AltName: Full=Deleted in azoospermia-associated protein 1;
FUNCTION: RNA-binding protein, which may be required during spermatogenesis.
SUBUNIT: Interacts with DAZ and DAZL.
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Predominantly cytoplasmic (By similarity). Nuclear at some stages of spermatozoides development. In midpachytene spermatocytes, it is localized in both the cytoplasm and the nuclei and is clearly excluded from the sex vesicles. In round spermatids, it localizes mainly in the nuclei, whereas in elongated spermatids, it localizes to the cytoplasm (By similarity).
TISSUE SPECIFICITY: Mainly expressed in testis. Expressed to a lower level in thymus. Weakly or not expressed in heart, liver, brain, placenta, lung, skeletal muscle, kidney and pancreas.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
PTM: Acetylation at Lys-150 is predominantly observed in the nuclear fraction, and may regulate nucleocytoplasmic transport.
SIMILARITY: Contains 2 RRM (RNA recognition motif) domains.
SEQUENCE CAUTION: Sequence=BAB71295.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DAZAP1
Diseases sorted by gene-association score: azoospermia (13)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 71.98 RPKM in Testis
Total median expression: 1356.98 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 -104.50188-0.556 Picture PostScript Text
3' UTR -227.10772-0.294 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)

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2DGS - NMR MuPIT 2DH8 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q96EP5
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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     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0008266 poly(U) RNA binding
GO:0034046 poly(G) binding
GO:0035613 RNA stem-loop binding

Biological Process:
GO:0001893 maternal placenta development
GO:0007275 multicellular organism development
GO:0007283 spermatogenesis
GO:0008283 cell proliferation
GO:0030154 cell differentiation
GO:0048026 positive regulation of mRNA splicing, via spliceosome

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0032991 macromolecular complex
GO:1990904 ribonucleoprotein complex


-  Descriptions from all associated GenBank mRNAs
  AF181719 - Homo sapiens DAZ associated protein 1 (DAZAP1) mRNA, complete cds.
AL360261 - Homo sapiens EST from clone 2205450, 5' end.
JD484140 - Sequence 465164 from Patent EP1572962.
BC012062 - Homo sapiens DAZ associated protein 1, mRNA (cDNA clone MGC:19907 IMAGE:4549444), complete cds.
HM005363 - Homo sapiens clone HTL-T-50 testicular tissue protein Li 50 mRNA, complete cds.
AB528000 - Synthetic construct DNA, clone: pF1KE0706, Homo sapiens DAZAP1 gene for DAZ associated protein 1, without stop codon, in Flexi system.
EU446950 - Synthetic construct Homo sapiens clone IMAGE:100069952; IMAGE:100012159; FLH257088.01L DAZ associated protein 1 (DAZAP1) gene, encodes complete protein.
CU680190 - Synthetic construct Homo sapiens gateway clone IMAGE:100017641 5' read DAZAP1 mRNA.
KJ893572 - Synthetic construct Homo sapiens clone ccsbBroadEn_02966 DAZAP1 gene, encodes complete protein.
KU178593 - Homo sapiens DAZ associated protein 1 isoform 1 (DAZAP1) mRNA, partial cds.
KU178594 - Homo sapiens DAZ associated protein 1 isoform 5 (DAZAP1) mRNA, partial cds, alternatively spliced.
AK125032 - Homo sapiens cDNA FLJ43042 fis, clone BRTHA3003343, highly similar to Homo sapiens DAZ associated protein 1 (DAZAP1).
AK056850 - Homo sapiens cDNA FLJ32288 fis, clone PROST2000325, highly similar to Homo sapiens DAZ associated protein 1 (DAZAP1) mRNA.
AY675556 - Homo sapiens myocyte enhancer factor 2D/deleted in azoospermia associated protein 1 fusion protein (MEF2D/DAZAP1 fusion) mRNA, complete cds.
AK124583 - Homo sapiens cDNA FLJ42592 fis, clone BRACE3009747.
AK092894 - Homo sapiens cDNA FLJ35575 fis, clone SPLEN2006143, highly similar to DAZ-associated protein 1.
AK128682 - Homo sapiens cDNA FLJ46848 fis, clone UTERU3005422.
JD485655 - Sequence 466679 from Patent EP1572962.
JD301349 - Sequence 282373 from Patent EP1572962.
JD490227 - Sequence 471251 from Patent EP1572962.
JD226535 - Sequence 207559 from Patent EP1572962.
JD294884 - Sequence 275908 from Patent EP1572962.
JD073811 - Sequence 54835 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: DAZP1_HUMAN, ENST00000233078.1, ENST00000233078.2, ENST00000233078.3, ENST00000233078.4, ENST00000233078.5, ENST00000233078.6, ENST00000233078.7, ENST00000233078.8, NM_018959, Q96EP5, Q96MJ3, Q9NRR9, uc002lsn.1, uc002lsn.2, uc002lsn.3, uc002lsn.4, uc002lsn.5, uc002lsn.6
UCSC ID: ENST00000233078.9
RefSeq Accession: NM_018959
Protein: Q96EP5 (aka DAZP1_HUMAN or DZP1_HUMAN)
CCDS: CCDS12065.1

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