DAZAP1 DAZ associated protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DAZAP1provided by HGNC
Official Full Name: DAZ associated protein 1provided by HGNC
Primary source: HGNC:HGNC:2683
See related: Ensembl:ENSG00000071626 MIM:607430; AllianceGenome:HGNC:2683
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
Summary: In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. A high percentage of infertile men have deletions that map to regions of the Y chromosome. The DAZ (deleted in azoospermia) gene cluster maps to the AZFc region of the Y chromosome and is deleted in many azoospermic and severely oligospermic men. It is thought that the DAZ gene cluster arose from the transposition, amplification, and pruning of the ancestral autosomal gene DAZL also involved in germ cell development and gametogenesis. This gene encodes a RNA-binding protein with two RNP motifs that was originally identified by its interaction with the infertility factors DAZ and DAZL. Two isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 19.6), appendix (RPKM 11.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (1407586..1435684)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (1377586..1405688)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (1407585..1435683)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

NEAT1_2 and DAZAP1, Paraspeckle Components, Interact with PXR to Negatively Regulate CYP3A4 Induction.
Title: NEAT1_2 and DAZAP1, Paraspeckle Components, Interact with PXR to Negatively Regulate CYP3A4 Induction.
DAZAP1 facilitates the alternative splicing of KITLG to promote multiple myeloma cell proliferation via ERK signaling pathway.
Title: DAZAP1 facilitates the alternative splicing of KITLG to promote multiple myeloma cell proliferation via ERK signaling pathway.
DAZAP1 overexpression promotes growth of HCC cell lines: a primary study using CEUS.
Title: DAZAP1 overexpression promotes growth of HCC cell lines: a primary study using CEUS.
RNA binding protein DAZAP1 promotes HCC progression and regulates ferroptosis by interacting with SLC7A11 mRNA.
Title: RNA binding protein DAZAP1 promotes HCC progression and regulates ferroptosis by interacting with SLC7A11 mRNA.
Starvation-induced suppression of DAZAP1 by miR-10b integrates splicing control into TSC2-regulated oncogenic autophagy in esophageal squamous cell carcinoma.
Title: Starvation-induced suppression of DAZAP1 by miR-10b integrates splicing control into TSC2-regulated oncogenic autophagy in esophageal squamous cell carcinoma.
Data indicate that DAZAP1 exerts a suppressive effect on cox6c pre-mRNA splicing and reduced DAZAP1 expression increases the COX6C protein level, leading to cell growth retardation.
Title: Specific intron-dependent loading of DAZAP1 onto the cox6c transcript suppresses pre-mRNA splicing efficacy and induces cell growth retardation.
The splicing activator DAZAP1 integrates splicing control into MEK/Erk-regulated cell proliferation and migration.
Title: The splicing activator DAZAP1 integrates splicing control into MEK/Erk-regulated cell proliferation and migration.
this study reports the mapping of a 42-amino acid segment (N42) at the N-terminus of DAZAP1 that is both necessary and sufficient for its transcription-dependent nuclear localization.
Title: Transcription-dependent nuclear localization of DAZAP1 requires an N-terminal signal.
Data show that hnRNPA1/A2, HuR and DAZAP1 splicing factors and DHX36 RNA helicase bind to the ISE, with hnRNPA1 acting negatively and DAZAP1 positively on splicing selection
Title: Interaction of hnRNPA1/A2 and DAZAP1 with an Alu-derived intronic splicing enhancer regulates ATM aberrant splicing.
DAZAP1 can regulate mRNA translation.
Title: DAZAP1, an RNA-binding protein required for development and spermatogenesis, can regulate mRNA translation.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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
A genome-wide association study for reading and language abilities in two population cohorts. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	HIV-1 Rev interacting protein, DAZ-associated protein 1 (DAZAP1), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa. The interaction of Rev with DAZAP1 is increased by RRE	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-153221 (e-PCR)
- UniSTS:173573

D15S702E (e-PCR)
- UniSTS:151609

A008W37 (e-PCR)
- UniSTS:59454

STS-F03983 (e-PCR)
- UniSTS:5749

D19S883 (e-PCR), detects polymorphism
- UniSTS:4225

WI-22459 (e-PCR)
- UniSTS:22160

D19S826 (e-PCR)
- UniSTS:73632

RH79693 (e-PCR)
- UniSTS:89031

RH103416 (e-PCR)
- UniSTS:97741

Dazap1 (e-PCR), detects polymorphism
- UniSTS:506836

SHGC-24159 (e-PCR)
- UniSTS:86512

SGC31985 (e-PCR)
- UniSTS:99830

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables RNA stem-loop binding	IEA Inferred from Electronic Annotation more info
enables mRNA 3'-UTR binding	IBA Inferred from Biological aspect of Ancestor more info
enables poly(G) binding	IBA Inferred from Biological aspect of Ancestor more info
enables poly(G) binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables poly(U) RNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in fibroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in maternal placenta development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mRNA splicing, via spliceosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in spermatogenesis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in male germ cell nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
part_of ribonucleoprotein complex	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: DAZ-associated protein 1

Names: deleted in azoospermia-associated protein 1; testicular tissue protein Li 50

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_029884.1 RefSeqGene

Range

5002..33100

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001352033.2 → NP_001338962.1 DAZ-associated protein 1 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, and lacks an alternate exon in the 3' coding region resulting in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform c, which lacks an internal aa, but is longer and has a distinct C-terminus, compared to isoform a. Isoforms c and d are the same length, encode distinct isoforms.

Source sequence(s)

AI802551, AK124583, BC012062, BU557183, CR991431

Consensus CDS

CCDS86685.1

UniProtKB/TrEMBL

K7EK33, K7EQ02

Related

ENSP00000465433.2, ENST00000587079.5

Conserved Domains (2) summary

cd12327
Location:110 → 189

RRM2_DAZAP1; RNA recognition motif 2 (RRM2) found in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins

cd12574
Location:11 → 92

RRM1_DAZAP1; RNA recognition motif 1 (RRM1) found in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
NM_001352034.2 → NP_001338963.1 DAZ-associated protein 1 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 3' coding region, and lacks an alternate exon in the 3' coding region resulting in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform d, which lacks an internal aa, but is longer and has a distinct C-terminus, compared to isoform a. Isoforms c and d are the same length, encode distinct isoforms.

Source sequence(s)

AI802551, AK124583, BC012062, BM559229, BU557183

Consensus CDS

CCDS86684.1

UniProtKB/TrEMBL

K7EQ02, K7EQ55

Related

ENSP00000467680.2, ENST00000592522.5

Conserved Domains (2) summary

cd12327
Location:111 → 190

RRM2_DAZAP1; RNA recognition motif 2 (RRM2) found in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins

cd12574
Location:11 → 92

RRM1_DAZAP1; RNA recognition motif 1 (RRM1) found in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
NM_001352035.2 → NP_001338964.1 DAZ-associated protein 1 isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an alternate exon in its 5' coding region, resulting in the use of an alternate start codon, and lacks an alternate exon in the 3' coding region resulting in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform e, which is shorter and has distinct N- and C-termini compared to isoform a.

Source sequence(s)

AI802551, AK124583, BC012062, BU557183, DA256130
NM_018959.4 → NP_061832.2 DAZ-associated protein 1 isoform b

See identical proteins and their annotated locations for NP_061832.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region resulting in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform b, which is longer and has a distinct C-terminus, compared to isoform a.

Source sequence(s)

AI802551, AK124583, BC012062, BU557183

Consensus CDS

CCDS12065.1

UniProtKB/Swiss-Prot

Q96EP5, Q96MJ3, Q9NRR9

UniProtKB/TrEMBL

A0A0S2Z569, K7EQ02

Related

ENSP00000233078.4, ENST00000233078.9

Conserved Domains (2) summary

cd12327
Location:111 → 190

RRM2_DAZAP1; RNA recognition motif 2 (RRM2) found in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins

cd12574
Location:11 → 92

RRM1_DAZAP1; RNA recognition motif 1 (RRM1) found in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
NM_170711.3 → NP_733829.1 DAZ-associated protein 1 isoform a

See identical proteins and their annotated locations for NP_733829.1

Status: REVIEWED

Description

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

Source sequence(s)

AI802551, AK056850, AK124583, BC012062, BU557183

Consensus CDS

CCDS12066.1

UniProtKB/TrEMBL

K7EQ02

Related

ENSP00000337132.5, ENST00000336761.10

Conserved Domains (2) summary

cd12327
Location:111 → 190

RRM2_DAZAP1; RNA recognition motif 2 (RRM2) found in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins

cd12574
Location:11 → 92

RRM1_DAZAP1; RNA recognition motif 1 (RRM1) found in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

1407586..1435684

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047438592.1 → XP_047294548.1 DAZ-associated protein 1 isoform X10
XM_047438591.1 → XP_047294547.1 DAZ-associated protein 1 isoform X9
XM_011527906.3 → XP_011526208.1 DAZ-associated protein 1 isoform X6

Conserved Domains (3) summary

COG0724
Location:151 → 340

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12327
Location:253 → 332

RRM2_DAZAP1; RNA recognition motif 2 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins

cd12574
Location:154 → 235

RRM1_DAZAP1; RNA recognition motif 1 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
XM_011527904.3 → XP_011526206.1 DAZ-associated protein 1 isoform X2

Conserved Domains (3) summary

COG0724
Location:151 → 341

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12327
Location:254 → 333

RRM2_DAZAP1; RNA recognition motif 2 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins

cd12574
Location:154 → 235

RRM1_DAZAP1; RNA recognition motif 1 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
XM_011527905.3 → XP_011526207.1 DAZ-associated protein 1 isoform X4

Conserved Domains (3) summary

COG0724
Location:151 → 341

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12327
Location:254 → 333

RRM2_DAZAP1; RNA recognition motif 2 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins

cd12574
Location:154 → 235

RRM1_DAZAP1; RNA recognition motif 1 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
XM_047438588.1 → XP_047294544.1 DAZ-associated protein 1 isoform X3
XM_011527907.3 → XP_011526209.1 DAZ-associated protein 1 isoform X8

Conserved Domains (3) summary

COG0724
Location:151 → 340

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12327
Location:253 → 332

RRM2_DAZAP1; RNA recognition motif 2 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins

cd12574
Location:154 → 235

RRM1_DAZAP1; RNA recognition motif 1 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
XM_047438589.1 → XP_047294545.1 DAZ-associated protein 1 isoform X5
XM_047438590.1 → XP_047294546.1 DAZ-associated protein 1 isoform X7
XM_017026582.3 → XP_016882071.1 DAZ-associated protein 1 isoform X11
XM_011527909.4 → XP_011526211.1 DAZ-associated protein 1 isoform X1

See identical proteins and their annotated locations for XP_011526211.1

Conserved Domains (3) summary

COG0724
Location:151 → 341

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12327
Location:254 → 333

RRM2_DAZAP1; RNA recognition motif 2 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins

cd12574
Location:154 → 235

RRM1_DAZAP1; RNA recognition motif 1 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
XM_047438593.1 → XP_047294549.1 DAZ-associated protein 1 isoform X12