Aliases for DZIP1 Gene

Aliases for DZIP1 Gene

  • DAZ Interacting Zinc Finger Protein 1 2 3 5
  • DZIP 2 3 4
  • DAZ-Interacting Protein 1/2 3 4
  • DAZ Interacting Protein 1 2 3
  • Zinc Finger Protein DZIP1 3 4
  • KIAA0996 2 4
  • Zinc Finger DAZ Interacting Protein 1 3
  • DAZ Interacting Protein Testis1 3
  • Zinc-Finger Protein DZIPt1 3
  • DZIPt1 3
  • SPGF47 3
  • DZIP1 5
  • DZIP2 4
  • MVP3 3

External Ids for DZIP1 Gene

Previous GeneCards Identifiers for DZIP1 Gene

  • GC13M094593
  • GC13M090620
  • GC13M095039
  • GC13M093931
  • GC13M093928
  • GC13M095028
  • GC13M096230
  • GC13M076828

Summaries for DZIP1 Gene

GeneCards Summary for DZIP1 Gene

DZIP1 (DAZ Interacting Zinc Finger Protein 1) is a Protein Coding gene. Diseases associated with DZIP1 include Mitral Valve Prolapse 3 and Spermatogenic Failure 47. Among its related pathways are Signaling by GPCR and Signaling by Hedgehog. An important paralog of this gene is DZIP1L.

UniProtKB/Swiss-Prot Summary for DZIP1 Gene

  • May participate in spermatogenesis via its interaction with DAZ (PubMed:15081113). Has a role in primary cilium formation (PubMed:19852954).

Gene Wiki entry for DZIP1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DZIP1 Gene

Genomics for DZIP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DZIP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J095641 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 262.1 +1.3 1306 4.4 MXD4 ZEB1 MAFF SMAD4 SAP130 ZNF341 RXRA KMT2B GABPB1 YY1 DZIP1 HSALNG0098733 DNAJC3-DT DNAJC3 UGGT2 CLDN10 HSALNG0098732
GH13J095675 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 19.9 -33.0 -32995 5.4 CHD2 TBP ZBTB10 SP1 MXD4 FEZF1 CEBPA MNT DEK IKZF1 DNAJC3 DNAJC3-DT DZIP1 UGGT2 piR-56759-144
GH13J095707 Enhancer 1.2 FANTOM5 Ensembl ENCODE 20.6 -62.2 -62225 21.3 FEZF1 CEBPA CTCF CEBPB FOXA2 RAD21 JUND PRDM6 SPI1 NFE2 DNAJC3 DZIP1 UGGT2 DNAJC3-DT RF01853-002 piR-53332
GH13J095603 Enhancer 0.9 Ensembl ENCODE 11.9 +40.2 40205 1.8 CEBPA HOMEZ CEBPB FOXA2 SAP130 RXRA THRB TCF7L2 SOX5 JUND DZIP1 HE856229 HSALNG0098732 CLDN10
GH13J095834 Enhancer 0.8 Ensembl ENCODE 11 -189.1 -189077 1.6 CTCF REST TRIM22 SMC3 RAD21 RFX5 MYC MAX ZNF652 RCOR1 UGGT2 DZIP1 RF00100-036 piR-37663-021 DNAJC3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DZIP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DZIP1

Top Transcription factor binding sites by QIAGEN in the DZIP1 gene promoter:
  • C/EBPalpha
  • Egr-4
  • Evi-1
  • NF-kappaB1
  • p53
  • PPAR-gamma1
  • PPAR-gamma2
  • RREB-1
  • S8
  • Spz1

Genomic Locations for DZIP1 Gene

Latest Assembly
chr13:95,578,202-95,644,706
(GRCh38/hg38)
Size:
66,505 bases
Orientation:
Minus strand

Previous Assembly
chr13:96,230,456-96,296,960
(GRCh37/hg19 by Entrez Gene)
Size:
66,505 bases
Orientation:
Minus strand

chr13:96,230,457-96,296,957
(GRCh37/hg19 by Ensembl)
Size:
66,501 bases
Orientation:
Minus strand

Genomic View for DZIP1 Gene

Genes around DZIP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DZIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DZIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DZIP1 Gene

Proteins for DZIP1 Gene

  • Protein details for DZIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86YF9-DZIP1_HUMAN
    Recommended name:
    Zinc finger protein DZIP1
    Protein Accession:
    Q86YF9
    Secondary Accessions:
    • Q5W078
    • Q5W079
    • Q8WY45
    • Q8WY46
    • Q9UGA5
    • Q9Y2K0

    Protein attributes for DZIP1 Gene

    Size:
    867 amino acids
    Molecular mass:
    98664 Da
    Quaternary structure:
    • Isoform 1 and isoform 2 interact with DAZ proteins. May participate in an RNA-binding complex that functions in both ES cells and germ cells.
    SequenceCaution:
    • Sequence=AAL36978.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA76840.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAB43211.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for DZIP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DZIP1 Gene

Post-translational modifications for DZIP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DZIP1 Gene

Domains & Families for DZIP1 Gene

Gene Families for DZIP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DZIP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DZIP1 Gene

GenScript: Design optimal peptide antigens:
  • DAZ-interacting protein 1/2 (DZIP1_HUMAN)
  • DZIP1 protein (Q05D25_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86YF9

UniProtKB/Swiss-Prot:

DZIP1_HUMAN :
  • Belongs to the DZIP C2H2-type zinc-finger protein family.
Family:
  • Belongs to the DZIP C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with DZIP1: view

Function for DZIP1 Gene

Molecular function for DZIP1 Gene

UniProtKB/Swiss-Prot Function:
May participate in spermatogenesis via its interaction with DAZ (PubMed:15081113). Has a role in primary cilium formation (PubMed:19852954).

Phenotypes From GWAS Catalog for DZIP1 Gene

Gene Ontology (GO) - Molecular Function for DZIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15081113
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with DZIP1: view
genes like me logo Genes that share phenotypes with DZIP1: view

Human Phenotype Ontology for DZIP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DZIP1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for DZIP1 Gene

Localization for DZIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DZIP1 Gene

Nucleus. Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=In testis, it is predominantly nuclear, with some cytoplasmic localization in spermatogonia. Colocalizes with DAZ and DAZL in primordial germ cells. {ECO:0000269 PubMed:15081113}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DZIP1 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 4
plasma membrane 1
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
  • Centriolar satellite (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DZIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 15081113
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA,IDA 15081113
GO:0005814 colocalizes_with centriole IDA 19852954
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with DZIP1: view

Pathways & Interactions for DZIP1 Gene

PathCards logo

SuperPathways for DZIP1 Gene

genes like me logo Genes that share pathways with DZIP1: view

Pathways by source for DZIP1 Gene

3 Reactome pathways for DZIP1 Gene

Gene Ontology (GO) - Biological Process for DZIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007224 smoothened signaling pathway IEA --
GO:0007275 multicellular organism development IEA --
GO:0007281 germ cell development IEP 15081113
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with DZIP1: view

No data available for SIGNOR curated interactions for DZIP1 Gene

Drugs & Compounds for DZIP1 Gene

No Compound Related Data Available

Transcripts for DZIP1 Gene

mRNA/cDNA for DZIP1 Gene

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DZIP1

Alternative Splicing Database (ASD) splice patterns (SP) for DZIP1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c · 5d · 5e · 5f ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^
SP1: - - - -
SP2: - -
SP3:
SP4:
SP5:
SP6: - - - - - - -
SP7: -
SP8:
SP9: -
SP10:

ExUns: 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24a · 24b ^ 25
SP1: - -
SP2: -
SP3: -
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for DZIP1 Gene

GeneLoc Exon Structure for
DZIP1

Expression for DZIP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DZIP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DZIP1 Gene

This gene is overexpressed in Spleen (33.1), Liver (21.6), and Ovary (14.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DZIP1 Gene



Protein tissue co-expression partners for DZIP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DZIP1

SOURCE GeneReport for Unigene cluster for DZIP1 Gene:

Hs.656580

mRNA Expression by UniProt/SwissProt for DZIP1 Gene:

Q86YF9-DZIP1_HUMAN
Tissue specificity: Predominantly expressed in testis. Also expressed in fetal brain, adult oocytes and ovary. Expressed in undifferentiated ES cells. In testis, it is probably specifically expressed in germ cells. Expressed in mature germ cells and secondary spermatocytes, while it is weakly or not expressed in primary spermatocytes.

Evidence on tissue expression from TISSUES for DZIP1 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with DZIP1: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DZIP1 Gene

Orthologs for DZIP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DZIP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DZIP1 30 31
  • 99.34 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DZIP1 30 31
  • 85.38 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DZIP1 30 31
  • 85.15 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dzip1 30
  • 74.49 (n)
Mouse
(Mus musculus)
Mammalia Dzip1 30 17 31
  • 74.34 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DZIP1 31
  • 63 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DZIP1 31
  • 62 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DZIP1 30 31
  • 63.83 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DZIP1 31
  • 42 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dzip1 30
  • 48.4 (n)
Zebrafish
(Danio rerio)
Actinopterygii dzip1 30 31
  • 50.7 (n)
OneToOne
Dr.27118 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 33 (a)
OneToMany
Species where no ortholog for DZIP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for DZIP1 Gene

ENSEMBL:
Gene Tree for DZIP1 (if available)
TreeFam:
Gene Tree for DZIP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DZIP1: view image

Paralogs for DZIP1 Gene

Paralogs for DZIP1 Gene

(1) SIMAP similar genes for DZIP1 Gene using alignment to 2 proteins:

  • DZIP1_HUMAN
  • Q05D25_HUMAN
genes like me logo Genes that share paralogs with DZIP1: view

Variants for DZIP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DZIP1 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
984961 Pathogenic: Mitral valve prolapse 3 95,641,820(-) G/T
NM_198968.4(DZIP1):c.72C>A (p.Ser24Arg)
MISSENSE
984962 Pathogenic: SPERMATOGENIC FAILURE 47 95,630,109(-) A/C
NM_198968.4(DZIP1):c.690T>G (p.Tyr230Ter)
NONSENSE
984963 Pathogenic: SPERMATOGENIC FAILURE 47 95,641,704(-) C/T
NM_198968.4(DZIP1):c.188G>A (p.Arg63Gln)
MISSENSE
rs34303958 Benign: not provided. - 95,589,191(-) T/Ap.Met664Leu
NM_198968.4(DZIP1):c.1990A>T (p.Met664Leu)
MISSENSE
rs35961322 Benign: not provided 95,633,253(-) A/C
NM_198968.4(DZIP1):c.666T>G (p.Thr222=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DZIP1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DZIP1 Gene

Variant ID Type Subtype PubMed ID
nsv7246 OTHER inversion 18451855
nsv976147 CNV duplication 23825009

Variation tolerance for DZIP1 Gene

Residual Variation Intolerance Score: 23.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.03; 84.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DZIP1 Gene

Human Gene Mutation Database (HGMD)
DZIP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DZIP1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DZIP1 Gene

Disorders for DZIP1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DZIP1 Gene - From: OMI, CVR, and GCD

Disorder Aliases PubMed IDs
mitral valve prolapse 3
  • mvp3
spermatogenic failure 47
  • spgf47
- elite association - COSMIC cancer census association via MalaCards
Search DZIP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DZIP1

genes like me logo Genes that share disorders with DZIP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DZIP1 Gene

Publications for DZIP1 Gene

  1. Identification of a novel gene, DZIP (DAZ-interacting protein), that encodes a protein that interacts with DAZ (deleted in azoospermia) and is expressed in embryonic stem cells and germ cells. (PMID: 15081113) Moore FL … Reijo-Pera RA (Genomics 2004) 3 4 23
  2. The Zn finger protein Iguana impacts Hedgehog signaling by promoting ciliogenesis. (PMID: 19852954) Glazer AM … Reddien PW (Developmental biology 2010) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Human Pumilio-2 is expressed in embryonic stem cells and germ cells and interacts with DAZ (Deleted in AZoospermia) and DAZ-like proteins. (PMID: 12511597) Moore FL … Pera RA (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 4
  5. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 3 4

Products for DZIP1 Gene

Sources for DZIP1 Gene