DAZL - deleted in azoospermia like Gene

中文名称：在无精子症中删除

种属: Homo sapiens

同用名: DAZH; DAZL1; DAZLA; SPGYLA

基因 ID: 1618 | 基因类型: protein coding

关于 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).

功能概要

DAZ (在无精子症中缺失) 基因家族编码潜在的 RNA 结合蛋白，这些蛋白在男性和女性的产前和产后生殖细胞中表达。由该基因编码的蛋白质定位于胎儿生殖细胞的细胞核和细胞质以及发育中的卵母细胞的细胞质。在睾丸中，这种蛋白质定位于精原细胞的细胞核，但在减数分裂期间重新定位到细胞质，并持续存在于精子细胞和精子中。在灵长类动物进化过程中，该常染色体基因的转座和扩增在 Y 染色体上产生了 DAZ 基因簇。该基因的突变与男性严重的生精失败和不育有关。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供，2010 年 6 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	10857750	GOA
enables translation activator activity	IDA IDA: 通过直接分析推断	16001084	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in positive regulation of translational initiation	IDA IDA: 通过直接分析推断	16001084	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of protein-containing complex	IDA IDA: 通过直接分析推断	10857750	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

DAZL 蛋白结构

RRM_1

0
100
200
295 a.a.

蛋白主名

其他名称

deleted in azoospermia-like

DAZ homolog

DAZL 抗体

目录号	产品名	应用	反应物种
HY-P83592	DAZL Antibody (YA3337)	WB	Human

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS03542	DAZL Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 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

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