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

Gene ID: 199221, updated on 5-Mar-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 ciliary basal body. Colocalizes with centriole. Implicated in polycystic kidney disease 5. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
3q22.3
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (138061990..138115608, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (140788462..140856195, complement)
105.20220307 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 (22) 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
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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

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_2023_10

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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