DAZL deleted in azoospermia like [Homo sapiens (human)] - Gene

Summary

Official Symbol: DAZLprovided by HGNC
Official Full Name: deleted in azoospermia likeprovided by HGNC
Primary source: HGNC:HGNC:2685
See related: Ensembl:ENSG00000092345 MIM:601486; AllianceGenome:HGNC:2685
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DAZH; DAZL1; DAZLA; SPGYLA
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]
Expression: Restricted expression toward testis (RPKM 49.0) See more
Orthologs: mouse all
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Genomic context

Location:: 3p24.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (16586792..16605423, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (16587918..16606550, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (16628299..16646930, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of DAZL polymorphisms and DAZ deletion with male infertility: a systematic review and meta-analysis.
Title: Association of DAZL polymorphisms and DAZ deletion with male infertility: a systematic review and meta-analysis.
DAZL regulates proliferation of human primordial germ cells by direct binding to precursor miRNAs and enhances DICER processing activity.
Title: DAZL regulates proliferation of human primordial germ cells by direct binding to precursor miRNAs and enhances DICER processing activity.
Direct reprogramming of human Sertoli cells into male germline stem cells with the self-renewal and differentiation potentials via overexpressing DAZL/DAZ2/BOULE genes.
Title: Direct reprogramming of human Sertoli cells into male germline stem cells with the self-renewal and differentiation potentials via overexpressing DAZL/DAZ2/BOULE genes.
The marker of alkyl DNA base damage, N7-methylguanine, is associated with semen quality in men.
Title: The marker of alkyl DNA base damage, N7-methylguanine, is associated with semen quality in men.
Suppressing Dazl modulates tumorigenicity and stemness in human glioblastoma cells.
Title: Suppressing Dazl modulates tumorigenicity and stemness in human glioblastoma cells.
computational analysis of free energy change due to this point mutation using GROMOS96 indicated decreased stability of the DAZL protein. The N109T variant in an infertile male population may provide a genetic marker for mutational analysis of DAZL
Title: In silico analysis of non-synonymous single nucleotide polymorphisms in human DAZL gene associated with male infertility.
Data suggest that DAZL may be one such factor in human female fertility
Title: Is there a role for DAZL in human female fertility?
Through the translational regulation of novel RNA targets SMC1B and TEX11, DAZL may have a key role in regulating chromosome cohesion and DNA recombination; two processes fundamental in determining oocyte quality and whose establishment in foetal life may support lifelong fertility.
Title: RNA immunoprecipitation identifies novel targets of DAZL in human foetal ovary.
hypermethylation of DAZL and BOULE promoters in human sperm is associated with human infertility
Title: Highly conserved epigenetic regulation of BOULE and DAZL is associated with human fertility.
data can be used to further elucidate the role of NANOS3 and DAZL in germ cell development both in vitro and in vivo
Title: Over Expression of NANOS3 and DAZL in Human Embryonic Stem Cells.

Submit: New GeneRIF Correction See all GeneRIFs (48)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH65618 (e-PCR)
- UniSTS:88622

DAZL__1187 (e-PCR)
- UniSTS:277157

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	TAS Traceable Author Statement more info	PubMed
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables mRNA 3'-UTR binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables translation activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables translation activator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in 3'-UTR-mediated mRNA stabilization	IBA Inferred from Biological aspect of Ancestor more info
involved_in female meiosis II	IEA Inferred from Electronic Annotation more info
involved_in germ cell development	TAS Traceable Author Statement more info	PubMed
involved_in oocyte maturation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of meiotic nuclear division	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of translational initiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of translational initiation	IDA Inferred from Direct Assay more info	PubMed
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
located_in ribosome	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: deleted in azoospermia-like

Names: DAZ homolog; DAZ-like autosomal; SPGY-like-autosomal; deleted in azoospermia-like 1; germline specific RNA binding protein; spermatogenesis gene on the Y-like autosomal; testis secretory sperm-binding protein Li 204a

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_023329.1 RefSeqGene

Range

5077..23708

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001190811.2 → NP_001177740.1 deleted in azoospermia-like isoform 1

See identical proteins and their annotated locations for NP_001177740.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK303026, AK310341, BX648638

Consensus CDS

CCDS54556.1

UniProtKB/Swiss-Prot

Q92904

Related

ENSP00000250863.8, ENST00000250863.12

Conserved Domains (1) summary

cd12672
Location:55 → 136

RRM_DAZL; RNA recognition motif in vertebrate deleted in azoospermia-like (DAZL) proteins
NM_001351.4 → NP_001342.2 deleted in azoospermia-like isoform 2

See identical proteins and their annotated locations for NP_001342.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 2.

Source sequence(s)

BC027595, BX648638, DB080081

Consensus CDS

CCDS43059.1

UniProtKB/Swiss-Prot

O15396, Q5HYB4, Q92904, Q92909

UniProtKB/TrEMBL

A0A140VK77

Related

ENSP00000382373.3, ENST00000399444.7

Conserved Domains (1) summary

cd12672
Location:35 → 116

RRM_DAZL; RNA recognition motif in vertebrate deleted in azoospermia-like (DAZL) proteins