DAZL - deleted in azoospermia like Gene

Also Known as DAZH; DAZL1; DAZLA; SPGYLA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1618

About DAZL

Cytogenetic location: 3p24.3 Genomic coordinates (GRCh38): 3:16,586,792-16,605,423 (from NCBI)

This gene has 3 transcripts (splice variants), 211 orthologues and 5 paralogues. Restricted expression toward testis (RPKM 49.0).

Summary

The DAZ (Deleted in AZoospermia) gene family encodes potential RNA binding proteins that are expressed in prenatal and postnatal germ cells of males and females. The protein encoded by this gene is localized to the nucleus and cytoplasm of fetal germ cells and to the cytoplasm of developing oocytes. In the testis, this protein is localized to the nucleus of spermatogonia but relocates to the cytoplasm during meiosis where it persists in spermatids and spermatozoa. Transposition and amplification of this autosomal gene during primate evolution gave rise to the DAZ gene cluster on the Y chromosome. Mutations in this gene have been linked to severe spermatogenic failure and infertility in males. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

DAZL Products (2)

mRNA	Protein	Name
NM_001190811.2	NP_001177740.1	deleted in azoospermia-like isoform 1
NM_001351.4	NP_001342.2	deleted in azoospermia-like isoform 2

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
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

DAZL Protein Structure

RRM_1

0
100
200
295 a.a.

Protein Preferred Names	Protein Names
deleted in azoospermia-like	DAZ homolog

DAZL Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83592	DAZL Antibody (YA3337)	WB	Human

Related Diseases

Diseases	Alias
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
Seminoma	Seminoma, Pure
Spermatogenic Failure, X-Linked, 1	Sertoli Cell-Only Syndrome Germinal Cell Aplasia Del Castillo Syndrome SPGFX1 X-Linked Spermatogenic Failure 1 Congenital Absence Of Germinal Epithelium Of Testes
Premature Ovarian Failure 1	Ovarian Failure, Premature Fmr1-Related Primary Ovarian Insufficiency Fragile X-Associated Primary Ovarian Insufficiency POF1 Pofx Hypergonadotropic Ovarian Failure, X-Linked Pof Primary Ovarian Insufficiency, Fragile X-Associated Primary Ovarian Insufficiency 1 Ovarian Failure Premature Premature Ovarian Failure, X-Linked Fragile X Premature Ovarian Failure Fmr1-Related Premature Ovarian Failure Familial Premature Ovarian Failure Idiopathic Familial Premature Ovarian Failure Fxpoi X-Linked Hypergonadotropic Ovarian Failure Hypergonadotropic Ovarian Failure X-Linked Poi Premature Ovarian Failure X-Linked Primary Ovarian Insufficiency Premature Ovarian Failure-1 Ovarian Failure, Premature, Type 1 Premature Ovarian Failure, Familial Premature Menopause Primary Hypogonadism Turner Syndrome
Epididymo-Orchitis
Testicular Disease	Testicular Dysfunction Testicular Diseases Disorder Of Testis Testis Disorder Testicular Disorders
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
Embryonal Testis Carcinoma	Testicular Embryonal Carcinoma Embryonal Carcinoma Of Testis Embryonal Carcinoma Of The Testis
Oligospermia
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
Testicular Cancer	Testis Cancer Testicular Carcinoma Testicular Neoplasms Malignant Neoplasm Of Testis Childhood Neoplasm Of The Testis Neoplasm Of Testis Pediatric Testicular Neoplasm Testicular Tumor Testis Neoplasm Testicular Tumors Testicular Neoplasm Testicular Malignant Germ Cell Tumor Childhood Testicular Neoplasm Carcinoma Of The Testis Cancer Of Testis Malignant Neoplasm Of Testis, Nos Malignant Neoplasm Of Testis, Unspecified Malignant Tumour Of Testis Testicle Cancer Primary Malignant Neoplasm Of Testis
Testicular Germ Cell Cancer	Germ Cell Tumor Of Testis Testicular Germ Cell Tumor Testicular Germ Cell Neoplasm Testicular Malignant Germ Cell Tumor
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism Undescended Testicle Undescended Testis Cryptorchism Undescended Testicles CRYPTO Impaired Testicular Descent Cryptosporidiosis Retained Testis Unilateral Cryptorchidism Unilateral Undescended Testis Nondescent Unilateral Testicle Unilateral Cryptorchism Ectopic Testis, Unilateral Bilateral Cryptorchidism Bilateral Cryptorchism Bilateral Nondescent Testicle Bilateral Undescended Testes Bilateral Ectopic Testes
Disorder Of Sexual Development	Disorder Of Sex Development Disorders Of Sex Development Sex Development Disorder Sex Differentiation Disease Dsd Sex Differentiation Disorders
46,Xy Sex Reversal	Swyer Syndrome Pure Gonadal Dysgenesis 46,Xy Gonadal Dysgenesis, Xy Female Type Gonadal Dysgenesis, 46,Xy 46,Xy Cgd 46,Xy Complete Gonadal Dysgenesis 46,Xy Pure Gonadal Dysgenesis 46 Xy Gonadal Dysgenesis 46, Xy Cgd 46, Xy Complete Gonadal Dysgenesis 46, Xy Pure Gonadal Dysgenesis Xy Pure Gonadal Dysgenesis Female With 46,Xy Karyotype Xy Females

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03542	DAZL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	DAZL	VGNC	VGNC:71739
Mus musculus	DAZL	MGD	MGI:1342328
Bos taurus	DAZL	VGNC	VGNC:53530
Rattus norvegicus	DAZL	RGD	RGD:1591714
Others	DAZL	NCBI