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

    Gene ID: 26528, updated on 9-Jun-2024

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See DAZAP1 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study for reading and language abilities in two population cohorts.
    EBI GWAS Catalog

    HIV-1 interactions

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    DAZ-associated protein 1
    Names
    deleted in azoospermia-associated protein 1
    testicular tissue protein Li 50

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001352033.2NP_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:110189
      RRM2_DAZAP1; RNA recognition motif 2 (RRM2) found in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
      cd12574
      Location:1192
      RRM1_DAZAP1; RNA recognition motif 1 (RRM1) found in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
    2. NM_001352034.2NP_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:111190
      RRM2_DAZAP1; RNA recognition motif 2 (RRM2) found in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
      cd12574
      Location:1192
      RRM1_DAZAP1; RNA recognition motif 1 (RRM1) found in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
    3. NM_001352035.2NP_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_018959.4NP_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:111190
      RRM2_DAZAP1; RNA recognition motif 2 (RRM2) found in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
      cd12574
      Location:1192
      RRM1_DAZAP1; RNA recognition motif 1 (RRM1) found in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
    5. NM_170711.3NP_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:111190
      RRM2_DAZAP1; RNA recognition motif 2 (RRM2) found in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
      cd12574
      Location:1192
      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_047438592.1XP_047294548.1  DAZ-associated protein 1 isoform X10

      UniProtKB/TrEMBL
      K7EQ02
    2. XM_047438591.1XP_047294547.1  DAZ-associated protein 1 isoform X9

      UniProtKB/TrEMBL
      K7EQ02
    3. XM_011527906.3XP_011526208.1  DAZ-associated protein 1 isoform X6

      Conserved Domains (3) summary
      COG0724
      Location:151340
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12327
      Location:253332
      RRM2_DAZAP1; RNA recognition motif 2 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
      cd12574
      Location:154235
      RRM1_DAZAP1; RNA recognition motif 1 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
    4. XM_011527904.3XP_011526206.1  DAZ-associated protein 1 isoform X2

      Conserved Domains (3) summary
      COG0724
      Location:151341
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12327
      Location:254333
      RRM2_DAZAP1; RNA recognition motif 2 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
      cd12574
      Location:154235
      RRM1_DAZAP1; RNA recognition motif 1 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
    5. XM_011527905.3XP_011526207.1  DAZ-associated protein 1 isoform X4

      Conserved Domains (3) summary
      COG0724
      Location:151341
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12327
      Location:254333
      RRM2_DAZAP1; RNA recognition motif 2 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
      cd12574
      Location:154235
      RRM1_DAZAP1; RNA recognition motif 1 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
    6. XM_047438588.1XP_047294544.1  DAZ-associated protein 1 isoform X3

    7. XM_011527907.3XP_011526209.1  DAZ-associated protein 1 isoform X8

      Conserved Domains (3) summary
      COG0724
      Location:151340
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12327
      Location:253332
      RRM2_DAZAP1; RNA recognition motif 2 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
      cd12574
      Location:154235
      RRM1_DAZAP1; RNA recognition motif 1 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
    8. XM_047438589.1XP_047294545.1  DAZ-associated protein 1 isoform X5

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

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

    11. XM_011527909.4XP_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:151341
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12327
      Location:254333
      RRM2_DAZAP1; RNA recognition motif 2 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
      cd12574
      Location:154235
      RRM1_DAZAP1; RNA recognition motif 1 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
    12. XM_047438593.1XP_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_054320512.1XP_054176487.1  DAZ-associated protein 1 isoform X10

      UniProtKB/TrEMBL
      K7EQ02
    2. XM_054320511.1XP_054176486.1  DAZ-associated protein 1 isoform X9

      UniProtKB/TrEMBL
      K7EQ02
    3. XM_054320508.1XP_054176483.1  DAZ-associated protein 1 isoform X6

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

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

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

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

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

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

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

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

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