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... See more...

Aliases for DAZAP1 Gene

Aliases for DAZAP1 Gene

  • DAZ Associated Protein 1 2 3 5
  • Deleted In Azoospermia-Associated Protein 1 3 4
  • DAZ-Associated Protein 1 3 4
  • Deleted In Azoospermia Associated Protein 1 2
  • Testicular Tissue Protein Li 50 3
  • MGC19907 2
  • DAZAP1 5

External Ids for DAZAP1 Gene

Previous GeneCards Identifiers for DAZAP1 Gene

  • GC19P001465
  • GC19P001347
  • GC19P001359
  • GC19P001360
  • GC19P001361
  • GC19P001170

Summaries for DAZAP1 Gene

Entrez Gene Summary for DAZAP1 Gene

  • 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]

GeneCards Summary for DAZAP1 Gene

DAZAP1 (DAZ Associated Protein 1) is a Protein Coding gene. Diseases associated with DAZAP1 include Azoospermia and Infertility. Among its related pathways are mRNA surveillance pathway. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is HNRNPA3.

UniProtKB/Swiss-Prot Summary for DAZAP1 Gene

Gene Wiki entry for DAZAP1 Gene

Additional gene information for DAZAP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DAZAP1 Gene

Genomics for DAZAP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DAZAP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DAZAP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DAZAP1

Top Transcription factor binding sites by QIAGEN in the DAZAP1 gene promoter:
  • c-Myb
  • Evi-1
  • GCNF
  • GR
  • GR-alpha
  • GR-beta
  • HEN1
  • LyF-1
  • RORalpha1

Genomic Locations for DAZAP1 Gene

Genomic Locations for DAZAP1 Gene
chr19:1,407,569-1,435,687
(GRCh38/hg38)
Size:
28,119 bases
Orientation:
Plus strand
chr19:1,407,568-1,435,719
(GRCh37/hg19)
Size:
28,152 bases
Orientation:
Plus strand

Genomic View for DAZAP1 Gene

Genes around DAZAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DAZAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DAZAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DAZAP1 Gene

Proteins for DAZAP1 Gene

  • Protein details for DAZAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96EP5-DAZP1_HUMAN
    Recommended name:
    DAZ-associated protein 1
    Protein Accession:
    Q96EP5
    Secondary Accessions:
    • Q96MJ3
    • Q9NRR9

    Protein attributes for DAZAP1 Gene

    Size:
    407 amino acids
    Molecular mass:
    43383 Da
    Quaternary structure:
    • Interacts with DAZ and DAZL.
    SequenceCaution:
    • Sequence=BAB71295.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DAZAP1 Gene

    Alternative splice isoforms for DAZAP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DAZAP1 Gene

Post-translational modifications for DAZAP1 Gene

  • Acetylation at Lys-150 is predominantly observed in the nuclear fraction, and may regulate nucleocytoplasmic transport.
  • Ubiquitination at Lys59, Lys150, and Lys194
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for DAZAP1
  • Boster Bio Antibodies for DAZAP1

No data available for DME Specific Peptides for DAZAP1 Gene

Domains & Families for DAZAP1 Gene

Gene Families for DAZAP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for DAZAP1 Gene

InterPro:
Blocks:
  • RNA-binding region RNP-1 (RNA recognition motif)
ProtoNet:

Suggested Antigen Peptide Sequences for DAZAP1 Gene

GenScript: Design optimal peptide antigens:
  • Deleted in azoospermia-associated protein 1 (DAZP1_HUMAN)
  • MEF2D/DAZAP1 fusion protein (Q5IRM7_HUMAN)
genes like me logo Genes that share domains with DAZAP1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for DAZAP1 Gene

Function for DAZAP1 Gene

Molecular function for DAZAP1 Gene

UniProtKB/Swiss-Prot Function:
RNA-binding protein, which may be required during spermatogenesis.

Phenotypes From GWAS Catalog for DAZAP1 Gene

Gene Ontology (GO) - Molecular Function for DAZAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,HDA 22658674
GO:0003729 mRNA binding IEA --
GO:0003730 mRNA 3'-UTR binding IBA 21873635
GO:0005515 protein binding IPI 10857750
genes like me logo Genes that share ontologies with DAZAP1: view
genes like me logo Genes that share phenotypes with DAZAP1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DAZAP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DAZAP1 Gene

Localization for DAZAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DAZAP1 Gene

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). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DAZAP1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DAZAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0032991 protein-containing complex IDA 10857750
genes like me logo Genes that share ontologies with DAZAP1: view

Pathways & Interactions for DAZAP1 Gene

PathCards logo

SuperPathways for DAZAP1 Gene

SuperPathway Contained pathways
1 mRNA surveillance pathway
genes like me logo Genes that share pathways with DAZAP1: view

Pathways by source for DAZAP1 Gene

1 KEGG pathway for DAZAP1 Gene

Gene Ontology (GO) - Biological Process for DAZAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001893 maternal placenta development IEA --
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IBA 21873635
GO:0008283 cell proliferation IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with DAZAP1: view

No data available for SIGNOR curated interactions for DAZAP1 Gene

Drugs & Compounds for DAZAP1 Gene

No Compound Related Data Available

Transcripts for DAZAP1 Gene

mRNA/cDNA for DAZAP1 Gene

5 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DAZAP1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DAZAP1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15a · 15b · 15c
SP1:
SP2: - - -
SP3: - - -
SP4: -
SP5: - - - -
SP6: - - - -
SP7: - -
SP8: - -
SP9: -
SP10: -

Relevant External Links for DAZAP1 Gene

GeneLoc Exon Structure for
DAZAP1

Expression for DAZAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DAZAP1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DAZAP1 Gene



Protein tissue co-expression partners for DAZAP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DAZAP1

SOURCE GeneReport for Unigene cluster for DAZAP1 Gene:

Hs.222510

mRNA Expression by UniProt/SwissProt for DAZAP1 Gene:

Q96EP5-DAZP1_HUMAN
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.

Evidence on tissue expression from TISSUES for DAZAP1 Gene

  • Lung(4.4)
  • Liver(4.3)
  • Blood(4.3)
  • Nervous system(3.4)
  • Skin(2.4)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with DAZAP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DAZAP1 Gene

Orthologs for DAZAP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DAZAP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DAZAP1 30 31
  • 99.33 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DAZAP1 31
  • 99 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Dazap1 31
  • 99 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DAZAP1 31
  • 98 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DAZAP1 31
  • 94 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia DAZAP1 30 31
  • 92.96 (n)
OneToOne
Chicken
(Gallus gallus)
Aves DAZAP1 31
  • 92 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DAZAP1 31
  • 99 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii dazap1 31
  • 74 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Hrb27C 31 32
  • 37 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea sqd-1 31
  • 27 (a)
ManyToMany
H28G03.1 31
  • 21 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2449 31
  • 52 (a)
OneToMany
CSA.9650 31
  • 35 (a)
OneToMany
Species where no ortholog for DAZAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (Ciona intestinalis)
  • 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 DAZAP1 Gene

ENSEMBL:
Gene Tree for DAZAP1 (if available)
TreeFam:
Gene Tree for DAZAP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DAZAP1: view image

Paralogs for DAZAP1 Gene

(25) SIMAP similar genes for DAZAP1 Gene using alignment to 6 proteins:

  • DAZP1_HUMAN
  • K7EK33_HUMAN
  • K7EQ02_HUMAN
  • K7EQ55_HUMAN
  • K7ERD2_HUMAN
  • Q5IRM7_HUMAN
genes like me logo Genes that share paralogs with DAZAP1: view

Variants for DAZAP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DAZAP1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
768947 Benign: not provided 1,430,304(+) T/C SYNONYMOUS_VARIANT
rs869025246 Uncertain Significance: Monoclonal B-Cell Lymphocytosis 1,434,901(+) T/C MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT
VAR_035480 A breast cancer sample p.Ser381Thr

Additional dbSNP identifiers (rs#s) for DAZAP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for DAZAP1 Gene

Variant ID Type Subtype PubMed ID
esv2758743 CNV gain+loss 17122850
esv32942 CNV gain+loss 17666407
nsv1116290 CNV deletion 24896259
nsv578278 CNV loss 21841781
nsv578279 CNV gain 21841781
nsv828374 CNV gain 20364138
nsv828375 CNV loss 20364138
nsv828377 CNV loss 20364138
nsv833705 CNV loss 17160897
nsv953942 CNV deletion 24416366

Variation tolerance for DAZAP1 Gene

Residual Variation Intolerance Score: 9.49% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.56; 55.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DAZAP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DAZAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DAZAP1 Gene

Disorders for DAZAP1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DAZAP1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
azoospermia
  • spermatogenic failure
infertility
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DAZAP1

genes like me logo Genes that share disorders with DAZAP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DAZAP1 Gene

Publications for DAZAP1 Gene

  1. Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1. (PMID: 10857750) Tsui S … Yen PH (Genomics 2000) 2 3 4
  2. Differential translation of Dazap1 transcripts during spermatogenesis. (PMID: 23658607) Yang CK … Yen P (PloS one 2013) 2 3
  3. DAZAP1 interacts via its RNA-recognition motifs with the C-termini of other RNA-binding proteins. (PMID: 19285026) Yang HT … Rousseau S (Biochemical and biophysical research communications 2009) 3 23
  4. Expression patterns of the DAZ-associated protein DAZAP1 in rat and human ovaries. (PMID: 16209998) Pan HA … Kuo PL (Fertility and sterility 2005) 3 23
  5. Cloning and functional characterization of MEF2D/DAZAP1 and DAZAP1/MEF2D fusion proteins created by a variant t(1;19)(q23;p13.3) in acute lymphoblastic leukemia. (PMID: 15744350) Prima V … Hunger SP (Leukemia 2005) 3 23

Products for DAZAP1 Gene