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UniProtKB - Q9NQZ3 (DAZ1_HUMAN)

Entry version 170 (17 Jun 2020)
Sequence version 2 (01 Mar 2004)
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Protein

Deleted in azoospermia protein 1

Gene

DAZ1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation. Promotes germ-cell progression to meiosis and formation of haploid germ cells.1 Publication

Miscellaneous

DAZ genes are prone to deletions but also to duplications. In a population of infertile men, DAZ genes deletions are associated with oligozoospermia but an increased number of DAZ genes is not a significant risk factor for spermatogenic failure.
The DAZ proteins (DAZ, DAZ2, DAZ4 and DAZ4) are all encoded by a strongly repeated region of the Y chromosome, in two clusters each comprising an inverted pair of DAZ genes. They are very similar, which gives their indidual characterization difficult. Thus, most experiments do not discriminate between the different members. One can therefore suppose that reported interactions with a DAZ protein involve all the 4 proteins.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein, RNA-binding
Biological processDifferentiation, Spermatogenesis

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Deleted in azoospermia protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DAZ1
Synonyms:DAZ, SPGY
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome Y

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000188120.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:2682 DAZ1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		400003 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NQZ3

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Spermatogenic failure Y-linked 2 (SPGFY2)3 Publications
The disease may be caused by mutations affecting the gene represented in this entry. AZFc deletions in the Yq11.23 region including the DAZ genes are the most common known genetic cause of human male infertility.
Disease descriptionA disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility.
Related information in OMIM

Organism-specific databases

DisGeNET

More...DisGeNETi		1617

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		DAZ1

MalaCards human disease database

More...MalaCardsi		DAZ1
MIMi415000 phenotype

Open Targets

More...OpenTargetsi		ENSG00000188120

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		1646 Partial chromosome Y deletion

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27149

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9NQZ3 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		DAZ1

Domain mapping of disease mutations (DMDM)

More...DMDMi		44887841

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000815541 – 744Deleted in azoospermia protein 1Add BLAST744

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9NQZ3

PRoteomics IDEntifications database

More...PRIDEi		Q9NQZ3

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		61241
82232 [Q9NQZ3-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NQZ3

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9NQZ3

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Testis-specific. Expression restricted to premeiotic germ cells, particularly in spermatogonia (at protein level).3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000188120 Expressed in fundus of stomach and 26 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NQZ3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NQZ3 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000188120 Group enriched (stomach, testis)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Forms a heterodimer with BOLL and DAZL.

Interacts with PUM2, DAZAP1, DAZAP2, DZIP1 and DZIP3.

4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		107986, 10 interactors

Protein interaction database and analysis system

More...IntActi		Q9NQZ3, 8 interactors

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9NQZ3 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9NQZ3

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini40 – 115RRM 1PROSITE-ProRule annotationAdd BLAST76
Domaini205 – 280RRM 2PROSITE-ProRule annotationAdd BLAST76
Domaini370 – 445RRM 3PROSITE-ProRule annotationAdd BLAST76
Domaini497 – 520DAZ 1PROSITE-ProRule annotationAdd BLAST24
Domaini521 – 544DAZ 2PROSITE-ProRule annotationAdd BLAST24
Domaini545 – 568DAZ 3PROSITE-ProRule annotationAdd BLAST24
Domaini569 – 592DAZ 4PROSITE-ProRule annotationAdd BLAST24
Domaini593 – 616DAZ 5PROSITE-ProRule annotationAdd BLAST24
Domaini617 – 640DAZ 6PROSITE-ProRule annotationAdd BLAST24
Domaini641 – 664DAZ 7PROSITE-ProRule annotationAdd BLAST24
Domaini665 – 688DAZ 8PROSITE-ProRule annotationAdd BLAST24
Domaini689 – 712DAZ 9PROSITE-ProRule annotationAdd BLAST24

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The DAZ domains are essential and mediate the interaction with DAZAP1 and DAZAP2.

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the RRM DAZ family.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0118 Eukaryota
COG0724 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00530000063480

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_022076_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NQZ3

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NQZ3

TreeFam database of animal gene trees

More...TreeFami		TF324396

Family and domain databases

Conserved Domains Database

More...CDDi		cd12672 RRM_DAZL, 3 hits

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.70.330, 3 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR037366 BOULE/DAZ
IPR034778 DAZ1-4
IPR037551 DAZ_RRM_vert
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR035979 RBD_domain_sf
IPR000504 RRM_dom

The PANTHER Classification System

More...PANTHERi		PTHR11176 PTHR11176, 11 hits
PTHR11176:SF8 PTHR11176:SF8, 11 hits

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00076 RRM_1, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00360 RRM, 3 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF54928 SSF54928, 3 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51890 DAZ, 9 hits
PS50102 RRM, 3 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NQZ3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSAANPETPN STISREASTQ SSSAAASQGW VLPEGKIVPN TVFVGGIDAR 
        60         70         80         90        100
MDETEIGSCF GRYGSVKEVK IITNRTGVSK GYGFVSFVND VDVQKIVGSQ 
       110        120        130        140        150
IHFHGKKLKL GPAIRKQKLC ARHVQPRPLV VNPPPPPQFQ NVWRNPNTET 
       160        170        180        190        200
YLQPQITPNP VTQHVQSAAN PETPNSTISR EASTQSSSAA ASQGWVLPEG 
       210        220        230        240        250
KIVPNTVFVG GIDARMDETE IGSCFGRYGS VKEVKIITNR TGVSKGYGFV 
       260        270        280        290        300
SFVNDVDVQK IVGSQIHFHG KKLKLGPAIR KQKLCARHVQ PRPLVVNPPP 
       310        320        330        340        350
PPQFQNVWRN PNTETYLQPQ ITPNPVTQHV QSAANPETPN STISREASTQ 
       360        370        380        390        400
SSSAAASQGW VLPEGKIVPN TVFVGGIDAR MDETEIGSCF GRYGSVKEVK 
       410        420        430        440        450
IITNRTGVSK GYGFVSFVND VDVQKIVGSQ IHFHGKKLKL GPAIRKQKLC 
       460        470        480        490        500
ARHVQPRPLV VNPPPPPQFQ NVWRNPNTET YLQPQITPNP VTQHVQAYSA 
       510        520        530        540        550
YPHSPGQVIT GCQLLVYNYQ EYPTYPDSAF QVTTGYQLPV YNYQPFPAYP 
       560        570        580        590        600
RSPFQVTAGY QLPVYNYQAF PAYPNSPFQV ATGYQFPVYN YQPFPAYPSS 
       610        620        630        640        650
PFQVTAGYQL PVYNYQAFPA YPNSPFQVAT GYQFPVYNYQ AFPAYPNSPV 
       660        670        680        690        700
QVTTGYQLPV YNYQAFPAYP SSPFQVTTGY QLPVYNYQAF PAYPNSAVQV 
       710        720        730        740 
TTGYQFHVYN YQMPPQCPVG EQRRNLWTEA YKWWYLVCLI QRRD
Length:744
Mass (Da):82,764
Last modified:March 1, 2004 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i341CB19EFC82F757
GO
Isoform 2 (identifier: Q9NQZ3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     589-613: YNYQPFPAYPSSPFQVTAGYQLPVY → CEICKILVLKNAAAFLCHSKVNRSI
     614-744: Missing.

Show »
Length:613
Mass (Da):67,295
Checksum:iB7BA2C0A1704A86F
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087X2D7A0A087X2D7_HUMAN
Deleted in azoospermia protein 1
DAZ1
486Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0A0MSR9A0A0A0MSR9_HUMAN
Deleted in azoospermia protein 1
DAZ1
366Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti287R → G in AAF91405 (PubMed:10936047).Curated1

<p>This subsection of the 'Sequence' section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement%5Fin%5Fdisease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

The number as well as the precise structure of the DAZ proteins probably differs within the population.1 Publication

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_056239589 – 613YNYQP…QLPVY → CEICKILVLKNAAAFLCHSK VNRSI in isoform 2. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_056240614 – 744Missing in isoform 2. 1 PublicationAdd BLAST131

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AC010088 Genomic DNA No translation available.
AC053490 Genomic DNA No translation available.
AC006338 Genomic DNA No translation available.
BC114927 mRNA Translation: AAI14928.1
AF271087 Transcribed RNA Translation: AAF91405.1
AF271088 mRNA Translation: AAF91406.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS48209.1 [Q9NQZ3-1]

NCBI Reference Sequences

More...RefSeqi		NP_004072.3, NM_004081.5 [Q9NQZ3-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000382510; ENSP00000371950; ENSG00000188120 [Q9NQZ3-2]
ENST00000405239; ENSP00000384573; ENSG00000188120 [Q9NQZ3-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1617

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1617

UCSC genome browser

More...UCSCi		uc004fvl.4 human [Q9NQZ3-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC010088 Genomic DNA No translation available.
AC053490 Genomic DNA No translation available.
AC006338 Genomic DNA No translation available.
BC114927 mRNA Translation: AAI14928.1
AF271087 Transcribed RNA Translation: AAF91405.1
AF271088 mRNA Translation: AAF91406.1
CCDSiCCDS48209.1 [Q9NQZ3-1]
RefSeqiNP_004072.3, NM_004081.5 [Q9NQZ3-1]

3D structure databases

SMRiQ9NQZ3
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi107986, 10 interactors
IntActiQ9NQZ3, 8 interactors

PTM databases

iPTMnetiQ9NQZ3
PhosphoSitePlusiQ9NQZ3

Polymorphism and mutation databases

BioMutaiDAZ1
DMDMi44887841

Proteomic databases

PaxDbiQ9NQZ3
PRIDEiQ9NQZ3
ProteomicsDBi61241
82232 [Q9NQZ3-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		21891 178 antibodies

Genome annotation databases

EnsembliENST00000382510; ENSP00000371950; ENSG00000188120 [Q9NQZ3-2]
ENST00000405239; ENSP00000384573; ENSG00000188120 [Q9NQZ3-1]
GeneIDi1617
KEGGihsa:1617
UCSCiuc004fvl.4 human [Q9NQZ3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1617
DisGeNETi1617
EuPathDBiHostDB:ENSG00000188120.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		DAZ1
GeneReviewsiDAZ1
HGNCiHGNC:2682 DAZ1
HPAiENSG00000188120 Group enriched (stomach, testis)
MalaCardsiDAZ1
MIMi400003 gene
415000 phenotype
neXtProtiNX_Q9NQZ3
OpenTargetsiENSG00000188120
Orphaneti1646 Partial chromosome Y deletion
PharmGKBiPA27149

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0118 Eukaryota
COG0724 LUCA
GeneTreeiENSGT00530000063480
HOGENOMiCLU_022076_0_0_1
InParanoidiQ9NQZ3
PhylomeDBiQ9NQZ3
TreeFamiTF324396

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		1617 2 hits in 63 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		DAZ1 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		DAZ1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		1617
PharosiQ9NQZ3 Tbio

Protein Ontology

More...PROi		PR:Q9NQZ3
RNActiQ9NQZ3 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000188120 Expressed in fundus of stomach and 26 other tissues
ExpressionAtlasiQ9NQZ3 baseline and differential
GenevisibleiQ9NQZ3 HS

Family and domain databases

CDDicd12672 RRM_DAZL, 3 hits
Gene3Di3.30.70.330, 3 hits
InterProiView protein in InterPro
IPR037366 BOULE/DAZ
IPR034778 DAZ1-4
IPR037551 DAZ_RRM_vert
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR035979 RBD_domain_sf
IPR000504 RRM_dom
PANTHERiPTHR11176 PTHR11176, 11 hits
PTHR11176:SF8 PTHR11176:SF8, 11 hits
PfamiView protein in Pfam
PF00076 RRM_1, 3 hits
SMARTiView protein in SMART
SM00360 RRM, 3 hits
SUPFAMiSSF54928 SSF54928, 3 hits
PROSITEiView protein in PROSITE
PS51890 DAZ, 9 hits
PS50102 RRM, 3 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDAZ1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NQZ3
Secondary accession number(s): Q1RMF9, Q9NQZ4
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: March 1, 2004
Last modified: June 17, 2020
This is version 170 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome Y
    Human chromosome Y: entries, gene names and cross-references to MIM
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