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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 Hepatic 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

Regulatory Elements for DZIP1L Gene

Enhancers for DZIP1L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H138942 1.5 Ensembl ENCODE dbSUPER 25.5 -829.5 -829472 6 HDGF ATF1 ZNF766 ELK1 FOS ATF7 REST SMARCB1 ZNF592 SNIP1 DBR1 DZIP1L ENSG00000272656 CEP70 ACTG1P1 COPB2 MRAS FOXL2 LINC01391
GH03H138875 1.8 FANTOM5 Ensembl ENCODE dbSUPER 17.1 -760.7 -760657 2 PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 ELK1 ATF7 NCOA1 REST DBR1 DZIP1L ENSG00000272656 FAIM ATP5G1P3 PIK3CB
GH03H138347 1.4 Ensembl ENCODE dbSUPER 15.7 -233.6 -233645 4 TBP ATF1 ZNF76 SIN3A FEZF1 RAD21 ZBTB40 RARA ZNF121 ATF7 DZIP1L MRAS PRR23C PIR43849 GC03M138344
GH03H138373 0.8 dbSUPER 21 -260.7 -260661 5 HDAC1 PKNOX1 ELK1 SCRT2 ZNF680 ZC3H11A REST ZNF518A ZNF781 ZNF623 MRAS DBR1 DZIP1L ENSG00000272656 NME9 GC03M138344 GC03P138407
GH03H138080 1.2 Ensembl ENCODE 12.2 +33.3 33271 3 ATF1 FOXA2 FEZF1 ZNF2 FOS RUNX3 REST TSHZ1 GLIS1 WT1 A4GNT DZIP1L MRAS KRT8P36 LOC105374128
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DZIP1L on UCSC Golden Path with GeneCards custom track

Promoters for DZIP1L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000158981 318 1401 RB1 ZNF76 KLF17 SIN3A DMAP1 ZNF2 GLIS2 EGR1 ZNF366 ATF7

Genomic Location for DZIP1L Gene

Chromosome:
3
Start:
138,061,985 bp from pter
End:
138,115,818 bp from pter
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 posLast=272272
  • 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

Phenotypes for DZIP1L Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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 --
GO:0005814 colocalizes_with centriole 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

Interacting Proteins for DZIP1L Gene

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

Unigene Clusters for DZIP1L Gene

DAZ interacting protein 1-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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, PaxDb, 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

Primer Products

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 33 34
  • 99.44 (n)
rat
(Rattus norvegicus)
Mammalia Dzip1l 33
  • 82.11 (n)
mouse
(Mus musculus)
Mammalia Dzip1l 33 16 34
  • 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 33 34
  • 51.29 (n)
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)

Paralogs for DZIP1L Gene

Paralogs for DZIP1L Gene

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

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 Sequence Context AA Info Type
rs555349004 Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200] 138,103,703(+) GCTGC(A/G)CCAGG nc-transcript-variant, reference, missense
VAR_078963 Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]
rs1000015670 -- 138,115,525(+) AGGCA(C/G)AGCCT upstream-variant-2KB, utr-variant-5-prime
rs1000084988 -- 138,070,171(+) CCCCC(A/G)TGCTT intron-variant
rs1000112757 -- 138,116,987(+) GTACC(A/G)TTACT upstream-variant-2KB

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)

Relevant External Links for DZIP1L Gene

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: OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DZI1L_HUMAN
  • Polycystic kidney disease, autosomal recessive (ARPKD) [MIM:263200]: A severe form of polycystic kidney disease affecting the kidneys and the hepatic biliary tract. The clinical spectrum is widely variable, with most cases presenting during infancy. The fetal phenotypic features classically include enlarged and echogenic kidneys, as well as oligohydramnios secondary to a poor urine output. Up to 50% of the affected neonates die shortly after birth, as a result of severe pulmonary hypoplasia and secondary respiratory insufficiency. In the subset that survives the perinatal period, morbidity and mortality are mainly related to severe systemic hypertension, renal insufficiency, and portal hypertension due to portal-tract fibrosis. {ECO:0000269 PubMed:28530676}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DZIP1L

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  2. The Zn finger protein Iguana impacts Hedgehog signaling by promoting ciliogenesis. (PMID: 19852954) Glazer AM … Reddien PW (Developmental biology 2010) 3 4 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  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 60
  5. Pooled-matrix protein interaction screens using Barcode Fusion Genetics. (PMID: 27107012) Yachie N … Roth FP (Molecular systems biology 2016) 3 60

Products for DZIP1L Gene

Sources for DZIP1L Gene

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