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

    Gene ID: 72507, updated on 9-Dec-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 embryo; future spinal cord; and 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, Dec 2024]
    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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    See Dzip1l in Genome Data Viewer
    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 (19) 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) 
    • Endonuclease-mediated (3) 
    • Targeted (1)  1 citation

    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
    		  
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    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
    		  
    involved_in regulation of protein localization ISS
    Inferred from Sequence or Structural Similarity
    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 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
    		  
    located_in centriole ISS
    Inferred from Sequence or Structural Similarity
    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 ciliary basal body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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