DAZ1 - deleted in azoospermia 1 Gene

Also Known as DAZ; SPGY

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1617

About DAZ1

Cytogenetic location: Yq11.223 Genomic coordinates (GRCh38): Y:23,129,355-23,199,094 (from NCBI)

This gene has 4 transcripts (splice variants), 206 orthologues, 5 paralogues and is associated with 2 phenotypes. Biased expression in stomach (RPKM 43.6) and testis (RPKM 11.0).

Summary

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]

DAZ1 Products (2)

mRNA	Protein	Name
NM_001388496.1	NP_001375425.1	deleted in azoospermia protein 1 isoform 2
NM_004081.7	NP_004072.3	deleted in azoospermia protein 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	10857750	GOA
enables translation activator activity	IDA IDA: Inferred from direct assay	16001084	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of translational initiation	IDA IDA: Inferred from direct assay	16001084	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	15081113	GOA
located in nucleus	IDA IDA: Inferred from direct assay	15081113	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	10857750	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DAZ1 Protein Structure

RRM_1

0
200
400
600
744 a.a.

Protein Preferred Names	Protein Names
deleted in azoospermia protein 1	testicular tissue protein Li 49

DAZ1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DAZ1	Q9NQZ3	DAZAP1	Homo sapiens	Q96EP5	Y2H	10857750
Intra	DAZ1	Q9NQZ3	DAZAP1	Homo sapiens	Q96EP5	Pull Down	10857750
Intra	DAZ1	Q9NQZ3	PUM2	Homo sapiens	Q8TB72	Anti Tag CoIP	12511597
Intra	DAZ1	Q9NQZ3	PUM2	Homo sapiens	Q8TB72	Y2H	12511597
Intra	DAZ1	Q9NQZ3	DAZAP2	Homo sapiens	Q15038	Y2H	10857750
Intra	DAZ1	Q9NQZ3	DAZAP2	Homo sapiens	Q15038	Pull Down	10857750
Intra	DAZ1	Q9NQZ3	DAZL	Homo sapiens	Q92904	Y2H	12511597
Intra	DAZ1	Q9NQZ3	DAZL	Homo sapiens	Q92904	Pull Down	10857750

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Spermatogenic Failure, Y-Linked, 2	SPGFY2 Spermatogenic Failure, Nonobstructive, Y-Linked Y-Linked Spermatogenic Failure 2 Azoospermia, Nonobstructive, Y-Linked Oligozoospermia, Nonobstructive, Y-Linked Oligospermia, Nonobstructive, Y-Linked Spermatogenic Arrest, Y-Linked Nonobstructive Y-Linked Spermatogenic Failure Spermatogenic Failure Y-Linked 2 Azoospermia Non-Obstructive Y-Linked Non-Obstructive Azoospermia And Infertility Oligospermia Non-Obstructive Y-Linked Oligozoospermia Non-Obstructive Y-Linked Spermatogenic Arrest Y-Linked Spermatogenic Failure Nonobstructive Y-Linked
Partial Deletion Of Y	Partial Chromosome Y Deletion Partial Deletion Of Y Chromosome Short Arm Partial Deletion Of Chromosome Y Partial Deletion Of The Long Arm Of The Y Chromosome Y-Chromosome Microdeletions Male Sterility Due To Chromosome Y Deletion Y Chromosome Deletions
Male Infertility	Infertility, Male Infertility Male Male Sterility Absolute Infertility
Infertility
Spermatogenic Failure	Azoospermia Spgf Spermatogenic Failure, Susceptibility To Absent Sperm Aspermatogenesis Infertility Due To Azoospermia Hypospermatogenesis Azoospermatism
Phelan-Mcdermid Syndrome	Chromosome 22q13.3 Deletion Syndrome 22q13.3 Deletion Syndrome Telomeric 22q13 Monosomy Syndrome PHMDS Deletion 22q13 Syndrome 22q13.3 Deletion Deletion 22q13.3 Syndrome Monosomy 22q13 Monosomy 22q13.3 22q13 Deletion Syndrome Monosomy 22q13 Syndrome 22q13 Deletion Chromosome Deletion

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-115402	DAz-1		/	Unkown
HY-RS03536	DAZ1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	DAZ1	MGD	MGI:1342328