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Aliases for DZIP1L Gene

Aliases for DZIP1L Gene

  • DAZ Interacting Zinc Finger Protein 1 Like 2 3 5
  • DAZ-Interacting Protein 1-Like Protein 3 4
  • DAZ Interacting Protein 1-Like 2 3
  • DAZ Interacting Zinc Finger Protein 1-Like 2
  • Zinc Finger Protein DZIP1L 3
  • DZIP2 3
  • PKD5 3

External Ids for DZIP1L Gene

Previous GeneCards Identifiers for DZIP1L Gene

  • GC03M139264
  • GC03M137780
  • GC03M135155

Summaries for DZIP1L Gene

GeneCards Summary for DZIP1L Gene

DZIP1L (DAZ Interacting Zinc Finger Protein 1 Like) is a Protein Coding gene. Diseases associated with DZIP1L include Polycystic Kidney Disease 5 and Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease. An important paralog of this gene is DZIP1.

UniProtKB/Swiss-Prot for DZIP1L Gene

  • Involved in primary cilium formation (PubMed:19852954, PubMed:28530676). Probably acts as a transition zone protein required for localization of PKD1/PC1 and PKD2/PC2 to the ciliary membrane (PubMed:28530676).

Additional gene information for DZIP1L Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DZIP1L Gene

Genomics for DZIP1L Gene

GeneHancer (GH) Regulatory Elements for DZIP1L Gene

Promoters and enhancers for DZIP1L 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
GH03J138112 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 650.7 +1.5 1545 4.4 RB1 KLF17 SIN3A DMAP1 ZNF2 ZNF335 GLIS2 EGR1 ZNF366 ATF7 DZIP1L PIR46402 A4GNT KRT8P36
GH03J138347 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 15.7 -233.6 -233645 4.7 ATF1 SIN3A FEZF1 ZNF48 ZNF121 ZFP91 ATF7 SP5 ZSCAN16 CTCF MRAS PIR43849 GC03M138344 DZIP1L PRR23C
GH03J138942 Enhancer 1.3 Ensembl ENCODE dbSUPER 25.5 -829.5 -829471 6.1 HDGF SMAD1 ATF1 POLR2B ZNF766 FOS ATF7 REST SMARCB1 ZNF592 LINC01391 FOXL2NB FOXL2 DBR1 DZIP1L ENSG00000272656 CEP70 ACTG1P1 COPB2 MRAS
GH03J138888 Enhancer 1.2 Ensembl ENCODE dbSUPER 23 -774.5 -774483 3.8 PKNOX1 FOXA2 CHAMP1 GTF3C2 IKZF2 RUNX3 NCOA1 ZNF592 ATF4 ZNF184 ATP5MC1P3 DBR1 DZIP1L PIK3CB COPB2 ACTG1P1 CEP70 FAIM A4GNT LINC01391
GH03J138875 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 17.1 -760.7 -760656 2.7 PKNOX1 SMAD1 ARNT POLR2B ZNF766 E2F8 REST ZNF592 MEF2D SMARCA4 DBR1 DZIP1L ENSG00000272656 FAIM ATP5MC1P3 PIK3CB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DZIP1L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DZIP1L gene promoter:
  • E2F-5
  • E2F-4
  • E2F-3a
  • E2F-2
  • E2F-1
  • E2F
  • POU2F1a
  • POU2F1
  • Bach1
  • Brachyury

Genomic Locations for DZIP1L Gene

Genomic Locations for DZIP1L Gene
chr3:138,061,985-138,115,818
(GRCh38/hg38)
Size:
53,834 bases
Orientation:
Minus strand
chr3:137,780,827-137,834,660
(GRCh37/hg19)
Size:
53,834 bases
Orientation:
Minus strand

Genomic View for DZIP1L Gene

Genes around DZIP1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DZIP1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DZIP1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DZIP1L Gene

Proteins for DZIP1L Gene

  • Protein details for DZIP1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IYY4-DZI1L_HUMAN
    Recommended name:
    Zinc finger protein DZIP1L
    Protein Accession:
    Q8IYY4
    Secondary Accessions:
    • C9JUG5
    • Q96M38

    Protein attributes for DZIP1L Gene

    Size:
    767 amino acids
    Molecular mass:
    86848 Da
    Quaternary structure:
    • Interacts with SEPT2 (PubMed:28530676).

    Alternative splice isoforms for DZIP1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DZIP1L Gene

Post-translational modifications for DZIP1L Gene

  • Ubiquitination at Lys272
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DZIP1L Gene

Domains & Families for DZIP1L Gene

Gene Families for DZIP1L Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DZIP1L Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DZIP1L Gene

Graphical View of Domain Structure for InterPro Entry

Q8IYY4

UniProtKB/Swiss-Prot:

DZI1L_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 DZIP1L: view

Function for DZIP1L Gene

Molecular function for DZIP1L Gene

UniProtKB/Swiss-Prot Function:
Involved in primary cilium formation (PubMed:19852954, PubMed:28530676). Probably acts as a transition zone protein required for localization of PKD1/PC1 and PKD2/PC2 to the ciliary membrane (PubMed:28530676).

Phenotypes From GWAS Catalog for DZIP1L Gene

Gene Ontology (GO) - Molecular Function for DZIP1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with DZIP1L: view
genes like me logo Genes that share phenotypes with DZIP1L: view

Human Phenotype Ontology for DZIP1L Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for DZIP1L Gene

Localization for DZIP1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for DZIP1L Gene

Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=Localizes to centrioles and to the distal ends of basal bodies (PubMed:28530676). {ECO:0000269 PubMed:28530676}.

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 DZIP1L gene
Compartment Confidence
cytoskeleton 5
nucleus 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (2)
  • Microtubules (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DZIP1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IBA --
GO:0005814 colocalizes_with centriole IEA,IDA 19852954
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA --
GO:0036064 ciliary basal body IDA 19852954
genes like me logo Genes that share ontologies with DZIP1L: view

Pathways & Interactions for DZIP1L Gene

SuperPathways for DZIP1L Gene

No Data Available

Gene Ontology (GO) - Biological Process for DZIP1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032880 regulation of protein localization IMP 28530676
GO:0060271 cilium assembly IMP 19852954
genes like me logo Genes that share ontologies with DZIP1L: view

No data available for Pathways by source and SIGNOR curated interactions for DZIP1L Gene

Drugs & Compounds for DZIP1L Gene

No Compound Related Data Available

Transcripts for DZIP1L Gene

mRNA/cDNA for DZIP1L Gene

Unigene Clusters for DZIP1L Gene

DAZ interacting protein 1-like:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DZIP1L Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19
SP1: - - - -
SP2:
SP3: -

Relevant External Links for DZIP1L Gene

GeneLoc Exon Structure for
DZIP1L
ECgene alternative splicing isoforms for
DZIP1L

Expression for DZIP1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DZIP1L Gene

Protein differential expression in normal tissues from HIPED for DZIP1L Gene

This gene is overexpressed in Cervix (68.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DZIP1L Gene



Protein tissue co-expression partners for DZIP1L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DZIP1L Gene:

DZIP1L

SOURCE GeneReport for Unigene cluster for DZIP1L Gene:

Hs.351403

Evidence on tissue expression from TISSUES for DZIP1L Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with DZIP1L: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DZIP1L Gene

Orthologs for DZIP1L Gene

This gene was present in the common ancestor of chordates.

Orthologs for DZIP1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DZIP1L 34 33
  • 99.44 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dzip1l 33
  • 82.11 (n)
mouse
(Mus musculus)
Mammalia Dzip1l 16 34 33
  • 81.7 (n)
cow
(Bos Taurus)
Mammalia DZIP1L 34
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DZIP1L 34
  • 57 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DZIP1L 34
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves DZIP1L 34
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DZIP1L 34
  • 41 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dzip1l 33
  • 54.75 (n)
zebrafish
(Danio rerio)
Actinopterygii dzip1l 34 33
  • 51.29 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
OneToMany
Species where no ortholog for DZIP1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 DZIP1L Gene

ENSEMBL:
Gene Tree for DZIP1L (if available)
TreeFam:
Gene Tree for DZIP1L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DZIP1L: view image

Paralogs for DZIP1L Gene

Paralogs for DZIP1L Gene

(1) SIMAP similar genes for DZIP1L Gene using alignment to 5 proteins:

  • DZI1L_HUMAN
  • C9JD19_HUMAN
  • C9JRW2_HUMAN
  • D3DNE5_HUMAN
  • H7C4G2_HUMAN
genes like me logo Genes that share paralogs with DZIP1L: view

Variants for DZIP1L Gene

Sequence variations from dbSNP and Humsavar for DZIP1L Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs555349004 pathogenic, POLYCYSTIC KIDNEY DISEASE 5, Polycystic kidney disease 5 (PKD5) [MIM:617610] 138,103,703(-) G/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
VAR_078963 Polycystic kidney disease 5 (PKD5) [MIM:617610] p.Gln91His
rs1000015670 -- 138,115,525(-) G/C 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000084988 -- 138,070,171(-) A/G genic_downstream_transcript_variant, intron_variant
rs1000112757 -- 138,116,987(-) A/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for DZIP1L Gene

Variant ID Type Subtype PubMed ID
dgv298n21 CNV gain 19592680
dgv4907n100 CNV gain 25217958
esv2751978 CNV loss 17911159
esv2759180 CNV loss 17122850
esv3575612 CNV gain 25503493
nsv1007857 CNV gain 25217958
nsv10329 CNV gain 18304495
nsv10330 CNV gain 18304495
nsv428422 CNV gain+loss 18775914
nsv979882 CNV duplication 23825009

Variation tolerance for DZIP1L Gene

Residual Variation Intolerance Score: 85.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.90; 48.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DZIP1L Gene

Human Gene Mutation Database (HGMD)
DZIP1L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DZIP1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DZIP1L Gene

Disorders for DZIP1L Gene

MalaCards: The human disease database

(4) MalaCards diseases for DZIP1L Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DZI1L_HUMAN
  • Polycystic kidney disease 5 (PKD5) [MIM:617610]: A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts may also occur in other organs, particularly the liver. PKD5 inheritance is autosomal recessive. {ECO:0000269 PubMed:28530676}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DZIP1L

genes like me logo Genes that share disorders with DZIP1L: view

No data available for Genatlas for DZIP1L Gene

Publications for DZIP1L Gene

  1. Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. (PMID: 28530676) Lu H … Bergmann C (Nature genetics 2017) 3 4 58
  2. The Zn finger protein Iguana impacts Hedgehog signaling by promoting ciliogenesis. (PMID: 19852954) Glazer AM … Reddien PW (Developmental biology 2010) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  5. Pooled-matrix protein interaction screens using Barcode Fusion Genetics. (PMID: 27107012) Yachie N … Roth FP (Molecular systems biology 2016) 3 58

Products for DZIP1L Gene

Sources for DZIP1L Gene

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