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

Gene ID: 22873, updated on 10-Dec-2019

Summary

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
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; DZIPt1
Expression
Broad expression in testis (RPKM 14.7), kidney (RPKM 9.9) and 20 other tissues See more
Orthologs

Genomic context

See DZIP1 in Genome Data Viewer
Location:
13q32.1
Exon count:
24
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (95578202..95644706, complement)
105 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 claudin 10 Neighboring gene CLDN10 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 5370 Neighboring gene Sharpr-MPRA regulatory region 2339 Neighboring gene DNAJC3 divergent transcript Neighboring gene DnaJ heat shock protein family (Hsp40) member C3 Neighboring gene MT-ND5 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Hedgehog 'on' state, organism-specific biosystem (from REACTOME)
    Hedgehog 'on' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
    Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0996

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
nucleic acid binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytoplasmic sequestering of protein IEA
Inferred from Electronic Annotation
more info
 
establishment of protein localization IEA
Inferred from Electronic Annotation
more info
 
germ cell development IEP
Inferred from Expression Pattern
more info
PubMed 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cilium assembly IEA
Inferred from Electronic Annotation
more info
 
protein localization to cilium IEA
Inferred from Electronic Annotation
more info
 
regulation of protein binding IEA
Inferred from Electronic Annotation
more info
 
smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
centriolar satellite IDA
Inferred from Direct Assay
more info
 
colocalizes_with centriole IDA
Inferred from Direct Assay
more info
PubMed 
ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
ciliary transition fiber IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
zinc finger 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 DZIPt1

NCBI Reference Sequences (RefSeq)

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_014934.5NP_055749.1  zinc finger 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:200221
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13815
    Location:58178
    Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal
  2. NM_198968.4NP_945319.1  zinc finger 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
    Q86YF9
    UniProtKB/TrEMBL
    B3KSP1
    Related
    ENSP00000366025.2, ENST00000376829.6
    Conserved Domains (3) summary
    sd00017
    Location:200221
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13815
    Location:58178
    Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal
    cl23765
    Location:227356
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006719917.2XP_006719980.1  zinc finger protein DZIP1 isoform X3

    Conserved Domains (3) summary
    sd00017
    Location:246267
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13815
    Location:104224
    Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal
    cl23765
    Location:273402
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
  2. XM_017020446.1XP_016875935.1  zinc finger protein DZIP1 isoform X8

  3. XM_017020444.1XP_016875933.1  zinc finger protein DZIP1 isoform X5

  4. XM_006719920.1XP_006719983.1  zinc finger protein DZIP1 isoform X6

    Conserved Domains (3) summary
    sd00017
    Location:200221
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13815
    Location:58178
    Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal
    cl23765
    Location:227356
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
  5. XM_017020445.1XP_016875934.1  zinc finger protein DZIP1 isoform X7

  6. XM_006719918.1XP_006719981.1  zinc finger protein DZIP1 isoform X4

    Conserved Domains (3) summary
    sd00017
    Location:246267
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13815
    Location:104224
    Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal
    cl23765
    Location:273402
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
  7. XM_005254032.1XP_005254089.1  zinc finger protein DZIP1 isoform X2

    Conserved Domains (3) summary
    sd00017
    Location:246267
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13815
    Location:104224
    Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal
    cl23765
    Location:273402
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
  8. XM_006719916.1XP_006719979.1  zinc finger protein DZIP1 isoform X1

    Conserved Domains (3) summary
    sd00017
    Location:246267
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13815
    Location:104224
    Dzip-like_N; Iguana/Dzip1-like DAZ-interacting protein N-terminal
    cl23765
    Location:273402
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
  9. XM_017020447.1XP_016875936.1  zinc finger protein DZIP1 isoform X9

RNA

  1. XR_001749512.1 RNA Sequence

  2. XR_001749511.1 RNA Sequence

  3. XR_001749510.1 RNA Sequence

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