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    DZIP1L DAZ interacting zinc finger protein 1 like [ Homo sapiens (human) ]

    Gene ID: 199221, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DZIP1Lprovided by HGNC
    Official Full Name
    DAZ interacting zinc finger protein 1 likeprovided by HGNC
    Primary source
    HGNC:HGNC:26551
    See related
    Ensembl:ENSG00000158163 MIM:617570; AllianceGenome:HGNC:26551
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PKD5; DZIP2
    Summary
    Predicted to enable metal ion binding activity. Involved in cilium assembly and regulation of protein localization. Located in centriole and ciliary basal body. Implicated in polycystic kidney disease 5. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in stomach (RPKM 1.1), skin (RPKM 1.0) and 24 other tissues See more
    Orthologs
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    Genomic context

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    See DZIP1L in Genome Data Viewer
    Location:
    3q22.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (138061990..138115608, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (140788462..140856195, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (137780832..137834450, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene claudin 18 Neighboring gene uncharacterized LOC105374127 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:137740837-137741045 Neighboring gene uncharacterized LOC105374128 Neighboring gene NANOG hESC enhancer GRCh37_chr3:137765865-137766518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20600 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:137789569-137790070 Neighboring gene keratin 8 pseudogene 36 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:137833761-137834262 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:137834263-137834762 Neighboring gene alpha-1,4-N-acetylglucosaminyltransferase Neighboring gene OCT4 hESC enhancer GRCh37_chr3:137879291-137879792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20601 Neighboring gene debranching RNA lariats 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease. Hertz JM, et al. Pediatr Nephrol, 2022 Nov. PMID 35211789, Free PMC Article
    2. Polycystic kidney disease: DZIP1L defines a new functional zip code for autosomal recessive PKD. Hartung EA, et al. Nat Rev Nephrol, 2017 Sep. PMID 28736432
    3. Cilia and polycystic kidney disease. Ma M. Semin Cell Dev Biol, 2021 Feb. PMID 32475690
    4. The Zn finger protein Iguana impacts Hedgehog signaling by promoting ciliogenesis. Glazer AM, et al. Dev Biol, 2010 Jan 1. PMID 19852954, Free PMC Article
    5. Human Pumilio-2 is expressed in embryonic stem cells and germ cells and interacts with DAZ (Deleted in AZoospermia) and DAZ-like proteins. Moore FL, et al. Proc Natl Acad Sci U S A, 2003 Jan 21. PMID 12511597, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease.
      Title: Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease.
    2. Cilia and polycystic kidney disease.
      Title: Cilia and polycystic kidney disease.
    3. DZIP1L plays a role in the pathogenesis of autosomal recessive polycystic kidney disease through impact on the ciliary transition zone.
      Title: Polycystic kidney disease: DZIP1L defines a new functional zip code for autosomal recessive PKD.
    4. Mutations in DZIP1L were characterized in patients with ARPKD. The ciliary-membrane translocation of the PKD proteins polycystin-1 and polycystin-2 is compromised in DZIP1L-mutant cells. This is the first conclusive evidence that ARPKD is not a homogeneous disorder and further establishes DZIP1L as a second gene involved in ARPKD pathogenesis.
      Title: Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Polycystic kidney disease 5
    MedGen: C4539903 OMIM: 617610 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32844

    Gene Ontology Provided by GOA

    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
    involved_in ciliary transition zone assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in floor plate development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neural tube patterning IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein localization to cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of protein localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in axoneme IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 
    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
    DAZ-interacting protein 1-like protein
    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_001170538.1 → NP_001164009.1  cilium assembly protein DZIP1L isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC023049, AK057406, BC033308, BQ424578
      Consensus CDS
      CCDS54645.1
      UniProtKB/Swiss-Prot
      Q8IYY4
      Related
      ENSP00000419486.1, ENST00000469243.5
      Conserved Domains (1) summary
      pfam13815
      Location:24 → 144
      Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal

    2. NM_173543.3 → NP_775814.2  cilium assembly protein DZIP1L isoform 1

      See identical proteins and their annotated locations for NP_775814.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC033308, BQ424578, DR001616
      Consensus CDS
      CCDS3096.1
      UniProtKB/Swiss-Prot
      C9JUG5, Q8IYY4, Q96M38
      Related
      ENSP00000332148.2, ENST00000327532.7
      Conserved Domains (1) summary
      pfam13815
      Location:24 → 144
      Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      138061990..138115608 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447642.1 → XP_047303598.1  cilium assembly protein DZIP1L isoform X5

    2. XM_005247198.4 → XP_005247255.1  cilium assembly protein DZIP1L isoform X2

      Conserved Domains (1) summary
      pfam13815
      Location:52 → 172
      Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal

    3. XM_006713527.4 → XP_006713590.1  cilium assembly protein DZIP1L isoform X3

      See identical proteins and their annotated locations for XP_006713590.1

      Conserved Domains (2) summary
      pfam13815
      Location:24 → 144
      Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal
      pfam16043
      Location:205 → 375
      DUF4795; Domain of unknown function (DUF4795)

    4. XM_011512524.3 → XP_011510826.1  cilium assembly protein DZIP1L isoform X4

      Conserved Domains (2) summary
      pfam13815
      Location:52 → 172
      Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal
      pfam16043
      Location:233 → 396
      DUF4795; Domain of unknown function (DUF4795)

    5. XM_011512518.3 → XP_011510820.1  cilium assembly protein DZIP1L isoform X1

      Conserved Domains (2) summary
      pfam13815
      Location:52 → 172
      Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal
      pfam16043
      Location:233 → 403
      DUF4795; Domain of unknown function (DUF4795)

    6. XM_005247200.4 → XP_005247257.1  cilium assembly protein DZIP1L isoform X10

      Conserved Domains (2) summary
      cd16269
      Location:62 → 73
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:11 → 90
      GBP_C; Guanylate-binding protein, C-terminal domain

    7. XM_047447645.1 → XP_047303601.1  cilium assembly protein DZIP1L isoform X8

    8. XM_047447646.1 → XP_047303602.1  cilium assembly protein DZIP1L isoform X9

    9. XM_047447643.1 → XP_047303599.1  cilium assembly protein DZIP1L isoform X6

    10. XM_017005841.2 → XP_016861330.1  cilium assembly protein DZIP1L isoform X7

    11. XM_047447644.1 → XP_047303600.1  cilium assembly protein DZIP1L isoform X6

    12. XM_011512528.4 → XP_011510830.1  cilium assembly protein DZIP1L isoform X11

      Conserved Domains (1) summary
      pfam13815
      Location:52 → 172
      Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal

    13. XM_017005842.2 → XP_016861331.1  cilium assembly protein DZIP1L isoform X12

    RNA

    1. XR_007095645.1 RNA Sequence

    2. XR_924113.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      140788462..140856195 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345570.1 → XP_054201545.1  cilium assembly protein DZIP1L isoform X2

    2. XM_054345569.1 → XP_054201544.1  cilium assembly protein DZIP1L isoform X2

    3. XM_054345573.1 → XP_054201548.1  cilium assembly protein DZIP1L isoform X5

    4. XM_054345571.1 → XP_054201546.1  cilium assembly protein DZIP1L isoform X3

    5. XM_054345572.1 → XP_054201547.1  cilium assembly protein DZIP1L isoform X4

    6. XM_054345568.1 → XP_054201543.1  cilium assembly protein DZIP1L isoform X1

    7. XM_054345580.1 → XP_054201555.1  cilium assembly protein DZIP1L isoform X10

    8. XM_054345578.1 → XP_054201553.1  cilium assembly protein DZIP1L isoform X8

    9. XM_054345579.1 → XP_054201554.1  cilium assembly protein DZIP1L isoform X9

    10. XM_054345576.1 → XP_054201551.1  cilium assembly protein DZIP1L isoform X6

    11. XM_054345574.1 → XP_054201549.1  cilium assembly protein DZIP1L isoform X6

    12. XM_054345577.1 → XP_054201552.1  cilium assembly protein DZIP1L isoform X7

    13. XM_054345575.1 → XP_054201550.1  cilium assembly protein DZIP1L isoform X6

    14. XM_054345581.1 → XP_054201556.1  cilium assembly protein DZIP1L isoform X11

    15. XM_054345583.1 → XP_054201558.1  cilium assembly protein DZIP1L isoform X12

    16. XM_054345582.1 → XP_054201557.1  cilium assembly protein DZIP1L isoform X12

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IYY4.2 GenPept UniProtKB/Swiss-Prot:Q8IYY4

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