Seroatlas · Human Serome Atlas

DZIP1

Cilium assembly protein DZIP1

Also known as: DZIP, DZIP1_HUMAN, KIAA0996

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q86YF9
Gene
DZIP1
Ensembl
ENSG00000134874
Chromosome
13
Canonical length
867 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Centrosome,Basal body,Cytosol

OverviewNCBI Gene

Enables BBSome binding activity and molecular adaptor activity. Involved in cilium organization; heart development; and protein-containing complex localization to centriolar satellite. Located in cytosol; microtubule organizing center; and nucleoplasm. Implicated in mitral valve prolapse and spermatogenic failure 47. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

867 residues, UniProt reviewed canonical sequence.

>Q86YF9|DZIP1
     1  MQAEAADWFS SMPFQKHVYY PLASGPEGPD VAVAAAAAGA ASMACAPPSA ASGPLPFFQF
    61  RPRLESVDWR RLSAIDVDKV AGAVDVLTLQ ENIMNITFCK LEDEKCPHCQ SGVDPVLLKL
   121  IRLAQFTIEY LLHSQEFLTS QLHTLEERLR LSHCDGEQSK KLLTKQAGEI KTLKEECKRR
   181  KKMISTQQLM IEAKANYYQC HFCDKAFMNQ AFLQSHIQRR HTEENSHFEY QKNAQIEKLR
   241  SEIVVLKEEL QLTRSELEAA HHASAVRFSK EYEMQKTKEE DFLKLFDRWK EEEKEKLVDE
   301  MEKVKEMFMK EFKELTSKNS ALEYQLSEIQ KSNMQIKSNI GTLKDAHEFK EDRSPYPQDF
   361  HNVMQLLDSQ ESKWTARVQA IHQEHKKEKG RLLSHIEKLR TSMIDDLNAS NVFYKKRIEE
   421  LGQRLQEQNE LIITQRQQIK DFTCNPLNSI SEPKGNPLAW QAFESQPAAP AVPMNAPALH
   481  TLETKSSLPM VHEQAFSSHI LEPIEELSEE EKGRENEQKL NNNKMHLRKA LKSNSSLTKG
   541  LRTMVEQNLM EKLETLGINA DIRGISSDQL HRVLKSVESE RHKQEREIPN FHQIREFLEH
   601  QVSCKIEEKA LLSSDQCSVS QMDTLSTGEV PKMIQLPSKN RQLIRQKAVS TDRTSVPKIK
   661  KNVMEDPFPR KSSTITTPPF SSEEEQEDDD LIRAYASPGP LPVPPPQNKG SFGKNTVKSD
   721  ADGTEGSEIE DTDDSPKPAG VAVKTPTEKV EKMFPHRKNV NKPVGGTNVP EMFIKKEELQ
   781  ELKCADVEDE DWDISSLEEE ISLGKKSGKE QKEPPPAKNE PHFAHVLNAW GAFNPKGPKG
   841  EGLQENESST LKSSLVTVTD WSDTSDV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DZIP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.57
Highest tissue expression
16 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 16 nTPM
  • amygdala: 14 nTPM
  • hypothalamus: 14 nTPM
  • testis: 13 nTPM
  • basal ganglia: 12 nTPM
  • hippocampal formation: 10 nTPM

Single-cell type

  • late spermatids: 1,214 nCPM
  • late primary spermatocytes: 525 nCPM
  • early spermatids: 369 nCPM
  • oligodendrocyte progenitor cells: 158 nCPM
  • loop of henle epithelial cells: 154 nCPM
  • ependymal cells: 153 nCPM

Immune cell

  • basophil: 0.1 nTPM
  • neutrophil: 0.1 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • hypothalamus: 24 nTPM
  • cerebral cortex: 18 nTPM
  • basal ganglia: 17 nTPM
  • midbrain: 17 nTPM
  • medulla oblongata: 15 nTPM
  • hippocampal formation: 15 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DZIP1.

Disease | AllUniProt

Conditions DZIP1 is implicated in, by any mechanism.

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 141 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Spermatogenic failure 47

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.03
gnomAD pLI
0
gnomAD missense Z
0.95
DepMap mean gene effect
0.06
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DZIP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DZIP1 as an antibody target. Whether an autoantibody or antibody against DZIP1 could matter depends on whether native DZIP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DZIP1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label DZIP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/DZIP1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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