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Dzip1l DAZ interacting protein 1-like [ Mus musculus (house mouse) ]

Gene ID: 72507, updated on 11-Apr-2024

Summary

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Official Symbol
Dzip1lprovided by MGI
Official Full Name
DAZ interacting protein 1-likeprovided by MGI
Primary source
MGI:MGI:1919757
See related
Ensembl:ENSMUSG00000037784 AllianceGenome:MGI:1919757
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
2610524A10Rik
Summary
Predicted to enable metal ion binding activity. Acts upstream of or within several processes, including ciliary transition zone assembly; neural tube development; and protein localization to cilium. Located in axoneme; centriole; and ciliary basal body. Is expressed in olfactory epithelium. Used to study autosomal recessive polycystic kidney disease. Human ortholog(s) of this gene implicated in polycystic kidney disease 5. Orthologous to human DZIP1L (DAZ interacting zinc finger protein 1 like). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in bladder adult (RPKM 3.6), limb E14.5 (RPKM 3.5) and 20 other tissues See more
Orthologs
human all
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Genomic context

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Location:
9 E3.3; 9 51.93 cM
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (99511448..99552128)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (99629501..99670075)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene debranching RNA lariats 1 Neighboring gene alpha-1,4-N-acetylglucosaminyltransferase Neighboring gene claudin 18 Neighboring gene STARR-seq mESC enhancer starr_25028 Neighboring gene predicted gene, 23949

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. Lu H, et al. Nat Genet, 2017 Jul. PMID 28530676, Free PMC Article
  2. Centrosomal protein Dzip1l binds Cby, promotes ciliary bud formation, and acts redundantly with Bromi to regulate ciliogenesis in the mouse. Wang C, et al. Development, 2018 Mar 15. PMID 29487109, Free PMC Article
  3. A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies. Breslow DK, et al. Nat Genet, 2018 Mar. PMID 29459677, Free PMC Article
  4. Construction of long-transcript enriched cDNA libraries from submicrogram amounts of total RNAs by a universal PCR amplification method. Piao Y, et al. Genome Res, 2001 Sep. PMID 11544199, Free PMC Article
  5. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Dzip1l promotes ciliary bud formation and is required for the integrity of the transition zone.
    Title: Centrosomal protein Dzip1l binds Cby, promotes ciliary bud formation, and acts redundantly with Bromi to regulate ciliogenesis in the mouse.
  2. Dzip1L knockout mice (wpy mutants) display progressive cystic kidney disease and hepatic defects as well as polydactyly, facial clefts, and other embryonic malformations.
    Title: Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Chemically induced (ENU) (1) 
  • Targeted (1)  1 citation
  • Endonuclease-mediated (3) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC107436

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within ciliary transition zone assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within cilium assembly IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cilium assembly ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within floor plate development IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within neural tube patterning IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within protein localization to cilium IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within protein localization to organelle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of protein localization ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within smoothened signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in axoneme IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in centriole IDA
Inferred from Direct Assay
more info
 PubMed 
colocalizes_with centriole ISO
Inferred from Sequence Orthology
more info
  
located_in centriole ISO
Inferred from Sequence Orthology
more info
  
is_active_in ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in ciliary basal body ISO
Inferred from Sequence Orthology
more info
  
located_in cilium IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
cilium assembly protein DZIP1L
Names
DAZ-interacting protein 1-like protein
DAZ-interacting zinc finger protein 1-like
protein warpy
zinc finger protein DZIP1L

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001311142.1 → NP_001298071.1  cilium assembly protein DZIP1L isoform 2

    See identical proteins and their annotated locations for NP_001298071.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site in the 3' coding region compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AC157949, AK012132, AK028787, AK034503, AK086512, CK336663
    Consensus CDS
    CCDS81060.1
    UniProtKB/TrEMBL
    B7ZNE9
    Related
    ENSMUSP00000108507.3, ENSMUST00000112886.9
    Conserved Domains (4) summary
    PTZ00249
    Location:511 → 663
    PTZ00249; variable surface protein Vir28; Provisional
    PTZ00121
    Location:116 → 479
    PTZ00121; MAEBL; Provisional
    pfam03546
    Location:600 → 728
    Treacle; Treacher Collins syndrome protein Treacle
    pfam13815
    Location:24 → 144
    Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal

  2. NM_028258.4 → NP_082534.2  cilium assembly protein DZIP1L isoform 1

    See identical proteins and their annotated locations for NP_082534.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC157949
    Consensus CDS
    CCDS23436.1
    UniProtKB/Swiss-Prot
    Q499E4, Q8BZI8, Q8C182, Q9CSR1
    UniProtKB/TrEMBL
    B2RR42, B7ZNE9
    Related
    ENSMUSP00000077475.6, ENSMUST00000078367.12
    Conserved Domains (3) summary
    PTZ00249
    Location:511 → 664
    PTZ00249; variable surface protein Vir28; Provisional
    PTZ00121
    Location:116 → 479
    PTZ00121; MAEBL; Provisional
    pfam13815
    Location:24 → 144
    Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    99511448..99552128
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030244633.2 → XP_030100493.1  cilium assembly protein DZIP1L isoform X4

    UniProtKB/TrEMBL
    B7ZNE9
    Related
    ENSMUSP00000108505.2, ENSMUST00000112884.2
    Conserved Domains (4) summary
    PTZ00249
    Location:511 → 663
    PTZ00249; variable surface protein Vir28; Provisional
    PTZ00121
    Location:116 → 479
    PTZ00121; MAEBL; Provisional
    pfam03546
    Location:600 → 728
    Treacle; Treacher Collins syndrome protein Treacle
    pfam13815
    Location:24 → 144
    Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal

  2. XM_006511474.4 → XP_006511537.1  cilium assembly protein DZIP1L isoform X3

    See identical proteins and their annotated locations for XP_006511537.1

    UniProtKB/Swiss-Prot
    Q499E4, Q8BZI8, Q8C182, Q9CSR1
    UniProtKB/TrEMBL
    B2RR42, B7ZNE9
    Conserved Domains (3) summary
    PTZ00249
    Location:511 → 664
    PTZ00249; variable surface protein Vir28; Provisional
    PTZ00121
    Location:116 → 479
    PTZ00121; MAEBL; Provisional
    pfam13815
    Location:24 → 144
    Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal

  3. XM_006511475.5 → XP_006511538.1  cilium assembly protein DZIP1L isoform X3

    See identical proteins and their annotated locations for XP_006511538.1

    UniProtKB/Swiss-Prot
    Q499E4, Q8BZI8, Q8C182, Q9CSR1
    UniProtKB/TrEMBL
    B2RR42, B7ZNE9
    Related
    ENSMUSP00000108506.3, ENSMUST00000112885.9
    Conserved Domains (3) summary
    PTZ00249
    Location:511 → 664
    PTZ00249; variable surface protein Vir28; Provisional
    PTZ00121
    Location:116 → 479
    PTZ00121; MAEBL; Provisional
    pfam13815
    Location:24 → 144
    Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal

  4. XM_030244631.2 → XP_030100491.1  cilium assembly protein DZIP1L isoform X4

    UniProtKB/TrEMBL
    B7ZNE9
    Conserved Domains (4) summary
    PTZ00249
    Location:511 → 663
    PTZ00249; variable surface protein Vir28; Provisional
    PTZ00121
    Location:116 → 479
    PTZ00121; MAEBL; Provisional
    pfam03546
    Location:600 → 728
    Treacle; Treacher Collins syndrome protein Treacle
    pfam13815
    Location:24 → 144
    Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal

  5. XM_030244632.2 → XP_030100492.1  cilium assembly protein DZIP1L isoform X4

    UniProtKB/TrEMBL
    B7ZNE9
    Conserved Domains (4) summary
    PTZ00249
    Location:511 → 663
    PTZ00249; variable surface protein Vir28; Provisional
    PTZ00121
    Location:116 → 479
    PTZ00121; MAEBL; Provisional
    pfam03546
    Location:600 → 728
    Treacle; Treacher Collins syndrome protein Treacle
    pfam13815
    Location:24 → 144
    Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal

  6. XM_006511476.5 → XP_006511539.1  cilium assembly protein DZIP1L isoform X3

    See identical proteins and their annotated locations for XP_006511539.1

    UniProtKB/Swiss-Prot
    Q499E4, Q8BZI8, Q8C182, Q9CSR1
    UniProtKB/TrEMBL
    B2RR42, B7ZNE9
    Conserved Domains (3) summary
    PTZ00249
    Location:511 → 664
    PTZ00249; variable surface protein Vir28; Provisional
    PTZ00121
    Location:116 → 479
    PTZ00121; MAEBL; Provisional
    pfam13815
    Location:24 → 144
    Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal

  7. XM_006511472.5 → XP_006511535.1  cilium assembly protein DZIP1L isoform X1

    UniProtKB/TrEMBL
    B7ZNE9
    Conserved Domains (3) summary
    PTZ00249
    Location:537 → 690
    PTZ00249; variable surface protein Vir28; Provisional
    PTZ00121
    Location:142 → 505
    PTZ00121; MAEBL; Provisional
    pfam13815
    Location:50 → 170
    Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal

  8. XM_006511473.5 → XP_006511536.1  cilium assembly protein DZIP1L isoform X2

    UniProtKB/TrEMBL
    B7ZNE9
    Conserved Domains (4) summary
    PTZ00249
    Location:537 → 689
    PTZ00249; variable surface protein Vir28; Provisional
    PTZ00121
    Location:142 → 505
    PTZ00121; MAEBL; Provisional
    pfam03546
    Location:626 → 754
    Treacle; Treacher Collins syndrome protein Treacle
    pfam13815
    Location:50 → 170
    Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal

RNA

  1. XR_004935574.1 RNA Sequence

  2. XR_004935569.1 RNA Sequence

  3. XR_004935570.1 RNA Sequence

  4. XR_004935573.1 RNA Sequence

  5. XR_004935571.1 RNA Sequence

  6. XR_004935572.1 RNA Sequence

  7. XR_004935566.1 RNA Sequence

  8. XR_001779020.2 RNA Sequence

  9. XR_004935567.1 RNA Sequence

  10. XR_004935568.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q499E4.1 GenPept UniProtKB/Swiss-Prot:Q499E4

Gene LinkOut

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