DAZ1 deleted in azoospermia 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DAZ1provided by HGNC
Official Full Name: deleted in azoospermia 1provided by HGNC
Primary source: HGNC:HGNC:2682
See related: Ensembl:ENSG00000188120 MIM:400003; AllianceGenome:HGNC:2682
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: DAZ; SPGY
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]
Expression: Biased expression in stomach (RPKM 43.6) and testis (RPKM 11.0) See more
Orthologs: all
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Genomic context

Location:: Yq11.223

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	Y	NC_000024.10 (23129355..23199094, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	Y	NC_060948.1 (23965003..24026288, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	Y	NC_000024.9 (25275502..25345241, complement)

Chromosome Y - NC_000024.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Y-chromosome haplogroups and Azoospermia Factor (AZF) analysis in Tunisian infertile male.
Title: Y-chromosome haplogroups and Azoospermia Factor (AZF) analysis in Tunisian infertile male.
CXCL10 Recruitment of gammadelta T Cells into the Hypoxic Bone Marrow Environment Leads to IL17 Expression and Multiple Myeloma Progression.
Title: CXCL10 Recruitment of γδ T Cells into the Hypoxic Bone Marrow Environment Leads to IL17 Expression and Multiple Myeloma Progression.
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.
Partial-AZFc deletions in Chilean men with primary spermatogenic impairment: gene dosage and Y-chromosome haplogroups.
Title: Partial-AZFc deletions in Chilean men with primary spermatogenic impairment: gene dosage and Y-chromosome haplogroups.
There was an increased frequency of DAZ microdeletion in blood samples from oligozoospermic and near azoospermic patients. A high frequency of DAZ microdeletion was observed in the sperm of patients with no DAZ microdeletion in their leukocytes compared to control. The results might be indicative of DAZ microdeletion induction during spermatogenesis.
Title: High frequency of de novo DAZ microdeletion in sperm nuclei of subfertile men: possible involvement of genome instability in idiopathic male infertility.
We investigated partial deletion of AZFc region and DAZ copy number in a population of Iranian infertile men and normozoospermic controls.
Title: Analysis of partial azoospermia factor c deletion and DAZ copy number in azoospermia and severe oligozoospermia.
Susceptibility of gr/gr rearrangements to azoospermia or oligozoospermia is dependent on DAZ and CDY1 gene copy deletions.
Title: Susceptibility of gr/gr rearrangements to azoospermia or oligozoospermia is dependent on DAZ and CDY1 gene copy deletions.
Overexpression of DAZ1 is associated with breast tumors.
Title: Transcriptome analysis of the cancer/testis genes, DAZ1, AURKC, and TEX101, in breast tumors and six breast cancer cell lines.
Studies indicate that partial RNA-binding proteins DAZ1/2 deletion was associated wih male infertility, but partial RNA-binding proteins DAZ3/4 deletion was not associated with male infertility.
Title: Impact of partial DAZ1/2 deletion and partial DAZ3/4 deletion on male infertility.
We did not found any statistically significant genetic association between DAZ alleles and idiopathic male infertility
Title: [The association between DAZ T > C polymorphism and idiopathic male infertility risk in north of Iran].

Submit: New GeneRIF Correction See all GeneRIFs (44)

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

Associated conditions

Description	Tests
Spermatogenic failure, Y-linked, 2 MedGen: C1839071 OMIM: 415000 GeneReviews: Y Chromosome Infertility	Compare labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-10-17) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2012-10-17) ClinGen Genome Curation Page

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

DAZ2_3058 (e-PCR)
- UniSTS:462151

G38350 (e-PCR)
- UniSTS:80968

G65827 (e-PCR)
- UniSTS:166986

G65834 (e-PCR)
- UniSTS:230500

RH38677 (e-PCR)
- UniSTS:88682

DAZ-SNV_II (e-PCR)
- UniSTS:241026

SHGC-35663 (e-PCR)
- UniSTS:60325

G38349 (e-PCR)
- UniSTS:54754

RH47942 (e-PCR)
- UniSTS:92394

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 cell differentiation	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 cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: deleted in azoospermia protein 1

Names: testicular tissue protein Li 49

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_008286.1 RefSeqGene

Range

5085..74738

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001388496.1 → NP_001375425.1 deleted in azoospermia protein 1 isoform 2

Status: REVIEWED

Source sequence(s)

AC010088, AC053490

Consensus CDS

CCDS94718.1

UniProtKB/TrEMBL

E7ERQ6

Related

ENSP00000444407.1, ENST00000540248.5

Conserved Domains (3) summary

TIGR01628
Location:40 → 273

PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family

pfam18872
Location:314 → 334

Daz; Daz repeat

cd12672
Location:35 → 116

RRM_DAZL; RNA recognition motif (RRM) found in vertebrate deleted in azoospermia-like (DAZL) proteins
NM_004081.7 → NP_004072.3 deleted in azoospermia protein 1 isoform 1

See identical proteins and their annotated locations for NP_004072.3

Status: REVIEWED

Source sequence(s)

AC010088, AC053490

Consensus CDS

CCDS48209.1

UniProtKB/Swiss-Prot

Q1RMF9, Q9NQZ3, Q9NQZ4

UniProtKB/TrEMBL

A0A140VJH5

Related

ENSP00000384573.1, ENST00000405239.6

Conserved Domains (3) summary

TIGR01628
Location:42 → 603

PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family

pfam18872
Location:644 → 664

Daz; Daz repeat

cd12672
Location:200 → 281

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