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

Gene ID: 22873, updated on 5-Mar-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
Predicted to enable metal ion binding activity. Involved in cilium assembly; germ cell development; and spermatogenesis. Located in cytosol; microtubule organizing center; and nucleoplasm. Colocalizes with centriole. Implicated in mitral valve prolapse and spermatogenic failure 47. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 14.7), kidney (RPKM 9.9) and 20 other tissues See more
Orthologs
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Genomic context

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Location:
13q32.1
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (95578202..95644706, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (94782752..94849251, complement)
105.20220307 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. Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins. Postmus I, et al. Nat Commun, 2014 Oct 28. PMID 25350695, Free PMC Article

See all (34) 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)

Genotypes

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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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_2023_10

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

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