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

Gene ID: 26528, updated on 7-Apr-2024

Summary

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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

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Location:
19p13.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (1407586..1435684)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (1377586..1405688)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1407585..1435683)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9706 Neighboring gene NADH:ubiquinone oxidoreductase core subunit S7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13612 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9707 Neighboring gene guanidinoacetate N-methyltransferase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9708 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9709 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9710 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1415933-1416526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1416527-1417121 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1423502-1424380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1424381-1425259 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1434260-1434763 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1438140-1439010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1440750-1441618 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9711 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9712 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9713 Neighboring gene Sharpr-MPRA regulatory region 2129 Neighboring gene ribosomal protein S15 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9714 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1452009-1452642 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1452643-1453274 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1453275-1453907 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1453908-1454539 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9715 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9716 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9717 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1456369-1456885 Neighboring gene APC regulator of WNT signaling pathway 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9718 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9719 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9720 Neighboring gene chromosome 19 open reading frame 25

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. DAZAP1 overexpression promotes growth of HCC cell lines: a primary study using CEUS. Deng JJ, et al. Clin Transl Oncol, 2022 Jun. PMID 35091997
  2. The splicing activator DAZAP1 integrates splicing control into MEK/Erk-regulated cell proliferation and migration. Choudhury R, et al. Nat Commun, 2014. PMID 24452013, Free PMC Article
  3. Transcription-dependent nuclear localization of DAZAP1 requires an N-terminal signal. Lin YT, et al. Biochem Biophys Res Commun, 2012 Nov 23. PMID 23111326
  4. DAZAP1 interacts via its RNA-recognition motifs with the C-termini of other RNA-binding proteins. Yang HT, et al. Biochem Biophys Res Commun, 2009 Mar 13. PMID 19285026
  5. DAZAP1 facilitates the alternative splicing of KITLG to promote multiple myeloma cell proliferation via ERK signaling pathway. Zhou Y, et al. Aging (Albany NY), 2022 Oct 13. PMID 36242590, Free PMC Article

See all (87) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

Homology

Clone Names

  • MGC19907

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA 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

  1. NG_029884.1 RefSeqGene

    Range
    5002..33100
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    1407586..1435684
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047438592.1 → XP_047294548.1  DAZ-associated protein 1 isoform X10

  2. XM_047438591.1 → XP_047294547.1  DAZ-associated protein 1 isoform X9

  3. 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

  4. 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

  5. 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

  6. XM_047438588.1 → XP_047294544.1  DAZ-associated protein 1 isoform X3

  7. 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

  8. XM_047438589.1 → XP_047294545.1  DAZ-associated protein 1 isoform X5

  9. XM_047438590.1 → XP_047294546.1  DAZ-associated protein 1 isoform X7

  10. XM_017026582.3 → XP_016882071.1  DAZ-associated protein 1 isoform X11

  11. 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

  12. XM_047438593.1 → XP_047294549.1  DAZ-associated protein 1 isoform X12

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    1377586..1405688
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054320512.1 → XP_054176487.1  DAZ-associated protein 1 isoform X10

  2. XM_054320511.1 → XP_054176486.1  DAZ-associated protein 1 isoform X9

  3. XM_054320508.1 → XP_054176483.1  DAZ-associated protein 1 isoform X6

  4. XM_054320504.1 → XP_054176479.1  DAZ-associated protein 1 isoform X2

  5. XM_054320506.1 → XP_054176481.1  DAZ-associated protein 1 isoform X4

  6. XM_054320505.1 → XP_054176480.1  DAZ-associated protein 1 isoform X3

  7. XM_054320510.1 → XP_054176485.1  DAZ-associated protein 1 isoform X8

  8. XM_054320507.1 → XP_054176482.1  DAZ-associated protein 1 isoform X5

  9. XM_054320509.1 → XP_054176484.1  DAZ-associated protein 1 isoform X7

  10. XM_054320513.1 → XP_054176488.1  DAZ-associated protein 1 isoform X11

  11. XM_054320503.1 → XP_054176478.1  DAZ-associated protein 1 isoform X1

  12. XM_054320514.1 → XP_054176489.1  DAZ-associated protein 1 isoform X12

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96EP5.1 GenPept UniProtKB/Swiss-Prot:Q96EP5

Gene LinkOut

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