Gene Gene information from NCBI Gene database.
Entrez ID 22873
Gene name DAZ interacting zinc finger protein 1
Gene symbol DZIP1
Synonyms (NCBI Gene)
DZIPDZIPt1MMVP3MVP3SPGF47
Chromosome 13
Chromosome location 13q32.1
miRNA miRNA information provided by mirtarbase database.
204
miRTarBase ID miRNA Experiments Reference
MIRT005040 hsa-let-7b-5p Microarray 17699775
MIRT022498 hsa-miR-124-3p Microarray 18668037
MIRT051692 hsa-let-7e-5p CLASH 23622248
MIRT038523 hsa-miR-99b-3p CLASH 23622248
MIRT949932 hsa-miR-1227 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
49
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15081113, 21878643, 23955340, 32296183
GO:0005634 Component Nucleus IDA 15081113
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608671 20908 ENSG00000134874
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86YF9
Protein name Cilium assembly protein DZIP1 (DAZ-interacting protein 1/2) (DAZ-interacting zinc finger protein 1)
Protein function Molecular adapter that recruits protein complexes required for cilium assembly and function to the cilium basal body (PubMed:19852954, PubMed:23955340, PubMed:27979967, PubMed:32051257). At the exit of mitosis, localizes to the basal body and ci
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13815 Dzip-like_N 58 178 Iguana/Dzip1-like DAZ-interacting protein N-terminal Family
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in testis (at protein level) (PubMed:15081113, PubMed:32051257). Also expressed in fetal brain, adult oocytes and ovary (PubMed:15081113). Expressed in undifferentiated ES cells (PubMed:15081113). In testis, it
Sequence
MQAEAADWFSSMPFQKHVYYPLASGPEGPDVAVAAAAAGAASMACAPPSAASGPLPFFQF
RPRLESVDWRRLSAIDVDKVAGAVDVLTLQENIMNITFCKLEDEKCPHCQSGVDPVLLKL
IRLAQFTIEYLLHSQEFLTSQLHTLEERLRLSHCDGEQSKKLLTKQAGEIKTLKEECK
RR
KKMISTQQLMIEAKANYYQCHFCDKAFMNQAFLQSHIQRRHTEENSHFEYQKNAQIEKLR
SEIVVLKEELQLTRSELEAAHHASAVRFSKEYEMQKTKEEDFLKLFDRWKEEEKEKLVDE
MEKVKEMFMKEFKELTSKNSALEYQLSEIQKSNMQIKSNIGTLKDAHEFKEDRSPYPQDF
HNVMQLLDSQESKWTARVQAIHQEHKKEKGRLLSHIEKLRTSMIDDLNASNVFYKKRIEE
LGQRLQEQNELIITQRQQIKDFTCNPLNSISEPKGNPLAWQAFESQPAAPAVPMNAPALH
TLETKSSLPMVHEQAFSSHILEPIEELSEEEKGRENEQKLNNNKMHLRKALKSNSSLTKG
LRTMVEQNLMEKLETLGINADIRGISSDQLHRVLKSVESERHKQEREIPNFHQIREFLEH
QVSCKIEEKALLSSDQCSVSQMDTLSTGEVPKMIQLPSKNRQLIRQKAVSTDRTSVPKIK
KNVMEDPFPRKSSTITTPPFSSEEEQEDDDLIRAYASPGPLPVPPPQNKGSFGKNTVKSD
ADGTEGSEIEDTDDSPKPAGVAVKTPTEKVEKMFPHRKNVNKPVGGTNVPEMFIKKEELQ
ELKCADVEDEDWDISSLEEEISLGKKSGKEQKEPPPAKNEPHFAHVLNAWGAFNPKGPKG
EGLQENESSTLKSSLVTVTDWSDTSDV
Sequence length 867
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Hedgehog 'on' state
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Spermatogenic failure 47 Pathogenic rs1877018344, rs1878524886 RCV001265625
RCV001265626
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DZIP1-related disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE 3 HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Azoospermia Azoospermia Pubtator 37854191 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 22433712
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 22433712
★☆☆☆☆
Found in Text Mining only