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

Gene ID: 22873, updated on 8-Jul-2021

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; MVP3; DZIPt1; SPGF47
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

See DZIP1 in Genome Data Viewer
Location:
13q32.1
Exon count:
24
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (95578202..95644706, complement)
105.20201022 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

Associated conditions

Description Tests
Mitral valve prolapse 3
MedGen: C1835814 OMIM: 610840 GeneReviews: Not available
not available
Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins.
GeneReviews: Not available
Spermatogenic failure 47
MedGen: C5436818 OMIM: 619102 GeneReviews: Not available
not available

Pathways from PubChem

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
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 cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 protein localization IEA
Inferred from Electronic Annotation
more info
 
involved_in germ cell development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in positive regulation of cilium assembly 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 binding IEA
Inferred from Electronic Annotation
more info
 
involved_in smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
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
 
colocalizes_with centriole IDA
Inferred from Direct Assay
more info
PubMed 
located_in centrosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
is_active_in ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
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
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
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

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)

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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_014934.5NP_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, ENST00000376829.7
    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 109.20210514

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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