Format

Send to:

Choose Destination

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

Gene ID: 26528, updated on 8-May-2016
Official Symbol
DAZAP1provided by HGNC
Official Full Name
DAZ associated protein 1provided by HGNC
Primary source
HGNC:HGNC:2683
See related
Ensembl:ENSG00000071626 HPRD:08462; MIM:607430; Vega:OTTHUMG00000180058
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]
Orthologs
Location:
19p13.3
Exon count:
15
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 19 NC_000019.10 (1407569..1435687)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1407584..1435683)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NADH:ubiquinone oxidoreductase core subunit S7 Neighboring gene guanidinoacetate N-methyltransferase Neighboring gene ribosomal protein S15 Neighboring gene adenomatosis polyposis coli 2 Neighboring gene chromosome 19 open reading frame 25

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

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

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

  • mRNA surveillance pathway, organism-specific biosystem (from KEGG)
    mRNA surveillance pathway, organism-specific biosystemThe mRNA surveillance pathway is a quality control mechanism that detects and degrades abnormal mRNAs. These pathways include nonsense-mediated mRNA decay (NMD), nonstop mRNA decay (NSD), and no-go ...
  • mRNA surveillance pathway, conserved biosystem (from KEGG)
    mRNA surveillance pathway, conserved biosystemThe mRNA surveillance pathway is a quality control mechanism that detects and degrades abnormal mRNAs. These pathways include nonsense-mediated mRNA decay (NMD), nonstop mRNA decay (NSD), and no-go ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC19907

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding TAS
Traceable Author Statement
more info
PubMed 
RNA stem-loop binding IEA
Inferred from Electronic Annotation
more info
 
nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cell proliferation IEA
Inferred from Electronic Annotation
more info
 
maternal placenta development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of mRNA splicing, via spliceosome IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
Preferred Names
DAZ-associated protein 1
Names
deleted in azoospermia-associated protein 1
testicular tissue protein Li 50

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
    4985..33103
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018959.3NP_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
    UniProtKB/TrEMBL
    A0A0S2Z569
    Related
    ENSP00000233078, OTTHUMP00000263228, ENST00000233078, OTTHUMT00000449522
    Conserved Domains (3) summary
    smart00360
    Location:114185
    RRM; RNA recognition motif
    cd12327
    Location:111190
    RRM2_DAZAP1; RNA recognition motif 2 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
    cd12574
    Location:1192
    RRM1_DAZAP1; RNA recognition motif 1 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
  2. NM_170711.2NP_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/Swiss-Prot
    Q96EP5
    Related
    ENSP00000337132, OTTHUMP00000263229, ENST00000336761, OTTHUMT00000449528
    Conserved Domains (3) summary
    smart00360
    Location:114185
    RRM; RNA recognition motif
    cd12327
    Location:111190
    RRM2_DAZAP1; RNA recognition motif 2 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
    cd12574
    Location:1192
    RRM1_DAZAP1; RNA recognition motif 1 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p2 Primary Assembly

    Range
    1407569..1435687
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005259531.2XP_005259588.1  

    See identical proteins and their annotated locations for XP_005259588.1

    UniProtKB/TrEMBL
    K7EK33
    Related
    ENSP00000465433, OTTHUMP00000274606, ENST00000587079, OTTHUMT00000473520
    Conserved Domains (3) summary
    smart00360
    Location:113184
    RRM; RNA recognition motif
    cd12327
    Location:110189
    RRM2_DAZAP1; RNA recognition motif 2 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
    cd12574
    Location:1192
    RRM1_DAZAP1; RNA recognition motif 1 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
  2. XM_005259535.2XP_005259592.1  

    See identical proteins and their annotated locations for XP_005259592.1

  3. XM_005259534.2XP_005259591.1  

    See identical proteins and their annotated locations for XP_005259591.1

  4. XM_005259536.2XP_005259593.1  

  5. XM_011527907.1XP_011526209.1  

    Conserved Domains (3) summary
    smart00360
    Location:256327
    RRM; RNA recognition motif
    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
  6. XM_011527906.1XP_011526208.1  

    Conserved Domains (3) summary
    smart00360
    Location:256327
    RRM; RNA recognition motif
    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
  7. XM_011527905.1XP_011526207.1  

    Conserved Domains (3) summary
    smart00360
    Location:257328
    RRM; RNA recognition motif
    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
  8. XM_011527908.1XP_011526210.1  

    See identical proteins and their annotated locations for XP_011526210.1

    Conserved Domains (3) summary
    smart00360
    Location:257328
    RRM; RNA recognition motif
    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
  9. XM_011527909.1XP_011526211.1  

    See identical proteins and their annotated locations for XP_011526211.1

    Conserved Domains (3) summary
    smart00360
    Location:257328
    RRM; RNA recognition motif
    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
  10. XM_011527904.1XP_011526206.1  

    Conserved Domains (3) summary
    smart00360
    Location:257328
    RRM; RNA recognition motif
    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
  11. XM_011527910.1XP_011526212.1  

    See identical proteins and their annotated locations for XP_011526212.1

    Conserved Domains (3) summary
    smart00360
    Location:73144
    RRM; RNA recognition motif
    cd12327
    Location:70149
    RRM2_DAZAP1; RNA recognition motif 2 in Deleted in azoospermia-associated protein 1 (DAZAP1) and similar proteins
    cl17169
    Location:151
    RRM_SF; RNA recognition motif (RRM) superfamily

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    1407687..1435681
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)