DAZ1 - deleted in azoospermia 1 Gene

Homo sapiens

Also known as DAZ; SPGY

Gene ID: 1617 | Gene type: protein coding

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	Reference	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	Reference	Source
involved in positive regulation of translational initiation	IDA IDA: Inferred from direct assay	16001084	GOA

Cellular Component GO Annotation	Evidence	Reference	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

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

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 Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	DAZ1	MGD	MGI:1342328

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