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    DZIP1 DAZ interacting zinc finger protein 1 [ Homo sapiens (human) ]

    Gene ID: 22873, updated on 27-Nov-2024

    Summary

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    Official Symbol
    DZIP1provided by HGNC
    Official Full Name
    DAZ interacting zinc finger protein 1provided by HGNC
    Primary source
    HGNC:HGNC:20908
    See related
    Ensembl:ENSG00000134874 MIM:608671; AllianceGenome:HGNC:20908
    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
    DZIP; MVP3; MMVP3; DZIPt1; SPGF47
    Summary
    Enables BBSome binding activity and molecular adaptor activity. Involved in cilium organization; heart development; and protein-containing complex localization to centriolar satellite. Located in cytoplasm; microtubule organizing center; and nucleoplasm. Implicated in mitral valve prolapse and spermatogenic failure 47. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 14.7), kidney (RPKM 9.9) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DZIP1 in Genome Data Viewer
    Location:
    13q32.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (95578202..95644706, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (94782752..94849251, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (96230456..96296960, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903193 Neighboring gene MEMO1 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7877 Neighboring gene claudin 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5442 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7878 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7879 Neighboring gene CLDN10 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:96144450-96144950 Neighboring gene Sharpr-MPRA regulatory region 5370 Neighboring gene Sharpr-MPRA regulatory region 2339 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:96294105-96295030 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5443 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5444 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5445 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7880 Neighboring gene uncharacterized LOC124903194 Neighboring gene H3K27ac hESC enhancers GRCh37_chr13:96328483-96329330 and GRCh37_chr13:96329331-96330177 Neighboring gene DNAJC3 divergent transcript

    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. Ribonomic analysis of human DZIP1 reveals its involvement in ribonucleoprotein complexes and stress granules. Shigunov P, et al. BMC Mol Biol, 2014 Jul 3. PMID 24993635, Free PMC Article
    2. Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF. Lv M, et al. J Med Genet, 2020 Jul. PMID 32051257, Free PMC Article
    3. Mutations in DZIP1 and XYLT1 are associated with nonsyndromic early onset high myopia in the Korean population. Lee JK, et al. Ophthalmic Genet, 2017 Jul-Aug. PMID 28085539
    4. Primary cilia defects causing mitral valve prolapse. Toomer KA, et al. Sci Transl Med, 2019 May 22. PMID 31118289, Free PMC Article
    5. 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

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
      Title: Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
    2. In conclusion, we identified two genes, DZIP1 and XYLT1, potentially associated with nonsyndromic high myopia using whole exome sequencing and subsequent mutation screening analysis.
      Title: Mutations in DZIP1 and XYLT1 are associated with nonsyndromic early onset high myopia in the Korean population.
    3. centrosome protein Dzip1 mediates the assembly of the BBSome-Dzip1-PCM1 complex in the centriolar satellites (CS) at the G0 phase for ciliary translocation of the BBSome. Phosphorylation of Dzip1 at Ser-210 by Plk1 (polo-like kinase 1) during the G2 phase promotes disassembly of this complex, resulting in removal of Dzip1 and the BBSome from the CS.
      Title: DAZ-interacting Protein 1 (Dzip1) Phosphorylation by Polo-like Kinase 1 (Plk1) Regulates the Centriolar Satellite Localization of the BBSome Protein during the Cell Cycle.
    4. The abundance of DZIP1-associated mRNAs increased with treatment.
      Title: Ribonomic analysis of human DZIP1 reveals its involvement in ribonucleoprotein complexes and stress granules.
    5. Dzip1-dependent stabilization of Spop/HIB is evolutionarily conserved and essential for proper regulation of Gli/Ci proteins in the Hh pathway.
      Title: Stabilization of speckle-type POZ protein (Spop) by Daz interacting protein 1 (Dzip1) is essential for Gli turnover and the proper output of Hedgehog signaling.
    6. reversible phosphorylation of Dzip1, which is controlled by the antagonistic action of CK2 and B56-containing PP2As, has an important impact on the stability of Gli transcription factors and Hh signaling.
      Title: The antagonistic action of B56-containing protein phosphatase 2As and casein kinase 2 controls the phosphorylation and Gli turnover function of Daz interacting protein 1.
    7. DZIP may associate with DAZ and its other cofactors in an RNA-binding protein complex that functions in both ES cells and germ cells
      Title: Identification of a novel gene, DZIP (DAZ-interacting protein), that encodes a protein that interacts with DAZ (deleted in azoospermia) and is expressed in embryonic stem cells and germ cells.
    8. gene expression profiling [DZIP]
      Title: Identification of a novel gene, DZIP (DAZ-interacting protein), that encodes a protein that interacts with DAZ (deleted in azoospermia) and is expressed in embryonic stem cells and germ cells.
    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
    Mitral valve prolapse, myxomatous 3
    MedGen: C1835814 OMIM: 610840 GeneReviews: Not available
    		Compare labs
    Spermatogenic failure 47
    MedGen: C5436818 OMIM: 619102 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0996

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables BBSome binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular adaptor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in ciliary basal body organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 cytoplasmic sequestering of protein IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in establishment of protein localization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in germ cell development IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in heart development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in maintenance of protein location in cell IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cilium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of protein localization to cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein localization to cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein-containing complex localization to centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sperm flagellum assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    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 base IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of ciliary transition fiber IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear speck IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cilium assembly protein DZIP1
    Names
    DAZ interacting protein 1
    DAZ interacting protein testis1
    DAZ-interacting protein 1/2
    zinc finger DAZ interacting protein 1
    zinc finger protein DZIP1
    zinc-finger protein DZIPt1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_014934.5 → NP_055749.1  cilium assembly protein DZIP1 isoform 1

      See identical proteins and their annotated locations for NP_055749.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
      Source sequence(s)
      AB023213, AI470938, AK092363, BF981831, DA782750, DR001764
      Consensus CDS
      CCDS9477.1
      UniProtKB/Swiss-Prot
      Q86YF9
      Related
      ENSP00000355175.2, ENST00000361396.6
      Conserved Domains (2) summary
      sd00017
      Location:200 → 221
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13815
      Location:58 → 178
      Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal

    2. NM_198968.4 → NP_945319.1  cilium assembly protein DZIP1 isoform 2

      See identical proteins and their annotated locations for NP_945319.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes an alternate exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is longer than isoform 1.
      Source sequence(s)
      AI470938, AK092363, AK094042, BC041804, BF981831, DA782750, DR001764
      Consensus CDS
      CCDS9478.1
      UniProtKB/Swiss-Prot
      Q5W078, Q5W079, Q86YF9, Q8WY45, Q8WY46, Q9UGA5, Q9Y2K0
      Related
      ENSP00000366025.2, ENST00000376829.7
      Conserved Domains (3) summary
      sd00017
      Location:200 → 221
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13815
      Location:58 → 178
      Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal
      cl23765
      Location:227 → 356
      iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      95578202..95644706 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430180.1 → XP_047286136.1  cilium assembly protein DZIP1 isoform X16

    2. XM_047430178.1 → XP_047286134.1  cilium assembly protein DZIP1 isoform X15

    3. XM_047430175.1 → XP_047286131.1  cilium assembly protein DZIP1 isoform X13

    4. XM_047430168.1 → XP_047286124.1  cilium assembly protein DZIP1 isoform X8

    5. XM_017020444.2 → XP_016875933.1  cilium assembly protein DZIP1 isoform X7

    6. XM_047430166.1 → XP_047286122.1  cilium assembly protein DZIP1 isoform X5

    7. XM_006719917.3 → XP_006719980.1  cilium assembly protein DZIP1 isoform X3

      Conserved Domains (3) summary
      sd00017
      Location:246 → 267
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13815
      Location:104 → 224
      Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal
      cl23765
      Location:273 → 402
      iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits

    8. XM_047430179.1 → XP_047286135.1  cilium assembly protein DZIP1 isoform X15

    9. XM_047430176.1 → XP_047286132.1  cilium assembly protein DZIP1 isoform X13

    10. XM_047430172.1 → XP_047286128.1  cilium assembly protein DZIP1 isoform X11

      UniProtKB/Swiss-Prot
      Q5W078, Q5W079, Q86YF9, Q8WY45, Q8WY46, Q9UGA5, Q9Y2K0

    11. XM_047430177.1 → XP_047286133.1  cilium assembly protein DZIP1 isoform X14

    12. XM_047430173.1 → XP_047286129.1  cilium assembly protein DZIP1 isoform X12

    13. XM_047430170.1 → XP_047286126.1  cilium assembly protein DZIP1 isoform X10

    14. XM_006719920.1 → XP_006719983.1  cilium assembly protein DZIP1 isoform X9

      Conserved Domains (3) summary
      sd00017
      Location:200 → 221
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13815
      Location:58 → 178
      Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal
      cl23765
      Location:227 → 356
      iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits

    15. XM_047430167.1 → XP_047286123.1  cilium assembly protein DZIP1 isoform X6

    16. XM_006719918.1 → XP_006719981.1  cilium assembly protein DZIP1 isoform X4

      Conserved Domains (3) summary
      sd00017
      Location:246 → 267
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13815
      Location:104 → 224
      Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal
      cl23765
      Location:273 → 402
      iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits

    17. XM_005254032.1 → XP_005254089.1  cilium assembly protein DZIP1 isoform X2

      Conserved Domains (3) summary
      sd00017
      Location:246 → 267
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13815
      Location:104 → 224
      Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal
      cl23765
      Location:273 → 402
      iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits

    18. XM_006719916.1 → XP_006719979.1  cilium assembly protein DZIP1 isoform X1

      Conserved Domains (3) summary
      sd00017
      Location:246 → 267
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13815
      Location:104 → 224
      Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal
      cl23765
      Location:273 → 402
      iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits

    19. XM_047430174.1 → XP_047286130.1  cilium assembly protein DZIP1 isoform X12

    20. XM_047430171.1 → XP_047286127.1  cilium assembly protein DZIP1 isoform X10

    21. XM_047430169.1 → XP_047286125.1  cilium assembly protein DZIP1 isoform X9

    22. XM_047430165.1 → XP_047286121.1  cilium assembly protein DZIP1 isoform X1

    23. XM_047430181.1 → XP_047286137.1  cilium assembly protein DZIP1 isoform X17

    RNA

    1. XR_007063670.1 RNA Sequence

    2. XR_007063669.1 RNA Sequence

    3. XR_007063668.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      94782752..94849251 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374264.1 → XP_054230239.1  cilium assembly protein DZIP1 isoform X16

    2. XM_054374263.1 → XP_054230238.1  cilium assembly protein DZIP1 isoform X15

    3. XM_054374260.1 → XP_054230235.1  cilium assembly protein DZIP1 isoform X13

    4. XM_054374254.1 → XP_054230229.1  cilium assembly protein DZIP1 isoform X8

    5. XM_054374253.1 → XP_054230228.1  cilium assembly protein DZIP1 isoform X7

    6. XM_054374251.1 → XP_054230226.1  cilium assembly protein DZIP1 isoform X5

    7. XM_054374249.1 → XP_054230224.1  cilium assembly protein DZIP1 isoform X3

    8. XM_054374261.1 → XP_054230236.1  cilium assembly protein DZIP1 isoform X13

    9. XM_054374258.1 → XP_054230233.1  cilium assembly protein DZIP1 isoform X11

      UniProtKB/Swiss-Prot
      Q5W078, Q5W079, Q86YF9, Q8WY45, Q8WY46, Q9UGA5, Q9Y2K0

    10. XM_054374262.1 → XP_054230237.1  cilium assembly protein DZIP1 isoform X14

    11. XM_054374259.1 → XP_054230234.1  cilium assembly protein DZIP1 isoform X12

    12. XM_054374256.1 → XP_054230231.1  cilium assembly protein DZIP1 isoform X10

    13. XM_054374255.1 → XP_054230230.1  cilium assembly protein DZIP1 isoform X9

    14. XM_054374252.1 → XP_054230227.1  cilium assembly protein DZIP1 isoform X6

    15. XM_054374250.1 → XP_054230225.1  cilium assembly protein DZIP1 isoform X4

    16. XM_054374248.1 → XP_054230223.1  cilium assembly protein DZIP1 isoform X2

    17. XM_054374246.1 → XP_054230221.1  cilium assembly protein DZIP1 isoform X1

    18. XM_054374257.1 → XP_054230232.1  cilium assembly protein DZIP1 isoform X10

    19. XM_054374247.1 → XP_054230222.1  cilium assembly protein DZIP1 isoform X1

    20. XM_054374265.1 → XP_054230240.1  cilium assembly protein DZIP1 isoform X17

    RNA

    1. XR_008488747.1 RNA Sequence

    2. XR_008488748.1 RNA Sequence

    3. XR_008488746.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86YF9.1 GenPept UniProtKB/Swiss-Prot:Q86YF9

    Gene LinkOut

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