Seroatlas · Human Serome Atlas

DZIP1L

Cilium assembly protein DZIP1L

Also known as: DZI1L_HUMAN, DZIP2, FLJ32844

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

Protein identityUniProt · HPA

UniProt accession
Q8IYY4
Gene
DZIP1L
Ensembl
ENSG00000158163
Chromosome
3
Canonical length
767 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Microtubules,Cytokinetic bridge,Mitotic spindle,Primary cilium,Basal body,Cytosol

OverviewNCBI Gene

Predicted to enable zinc ion binding activity. Involved in cilium assembly and regulation of protein localization. Located in several cellular components, including intercellular bridge; microtubule cytoskeleton; and nucleoplasm. Implicated in polycystic kidney disease 5. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

767 residues, UniProt reviewed canonical sequence.

>Q8IYY4|DZIP1L
     1  MQSPAATAEG LSGPLFGAYT FPTFKFQPRH DSMDWRRIST LDVDRVAREL DVATLQENIA
    61  GITFCNLDRE VCSRCGQPVD PALLKVLRLA QLIIEYLLHC QDCLSASVAQ LEARLQTSLG
   121  QQQRGQQELG RQADELKGVR EESRRRRKMI STLQQLLMQT GTHSYHTCHL CDKTFMNATF
   181  LRGHIQRRHA GVAEGGKQKK QEQPVEEVLE ELRAKLKWTQ GELEAQREAE RQRQLQEAEL
   241  IHQREIEAKK EFDKWKEQEW TKLYGEIDKL KKLFWDEFKN VAKQNSTLEE KLRALQSHSV
   301  MESKLGSLRD EESEEWLRQA RELQALREKT EIQKTEWKRK VKELHEEHMA EKKELQEENQ
   361  RLQASLSQDQ KKAAAQSQCQ ISTLRAQLQE QARIIASQEE MIQSLSLRKV EGIHKVPKAV
   421  DTEEDSPEEE MEDSQDEQHK VLAALRRNPT LLKHFRPILE DTLEEKLESM GIRKDAKGIS
   481  IQTLRHLESL LRVQREQKAR KFSEFLSLRG KLVKEVTSRA KERQENGAVV SQPDGQPSVK
   541  SQQSTLVTRE AQPKTRTLQV ALPSTPAEPP PPTRQSHGSH GSSLTQVSAP APRPGLHGPS
   601  STPPSSGPGM STPPFSSEED SEGDRVQRVS LQPPKVPSRM VPRPKDDWDW SDTETSEENA
   661  QPPGQGSGTL VQSMVKNLEK QLEAPAKKPA GGVSLFFMPN AGPQRAATPG RKPQLSEDES
   721  DLEISSLEDL PLDLDQREKP KPLSRSKLPE KFGTGPQSSG QPRVPAW

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DZIP1L 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)
0.56
Highest tissue expression
10 nTPM

Expression across tissuesHPA

Tissue

  • fallopian tube: 10 nTPM
  • bone marrow: 8.3 nTPM
  • cervix: 8.1 nTPM
  • endometrium: 7.4 nTPM
  • skin: 7.4 nTPM
  • blood vessel: 7 nTPM

Single-cell type

  • respiratory ciliated cells: 210 nCPM
  • fallopian tube ciliated cells: 126 nCPM
  • endometrial ciliated cells: 124 nCPM
  • ependymal cells: 107 nCPM
  • adipocytes: 57 nCPM
  • extravillous trophoblasts: 51 nCPM

Immune cell

  • classical monocyte: 0.3 nTPM
  • eosinophil: 0.3 nTPM
  • myeloid DC: 0.3 nTPM
  • intermediate monocyte: 0.2 nTPM
  • total PBMC: 0.1 nTPM
  • basophil: 0 nTPM

Brain region

  • choroid plexus: 35 nTPM
  • midbrain: 19 nTPM
  • medulla oblongata: 16 nTPM
  • cerebellum: 16 nTPM
  • spinal cord: 13 nTPM
  • pons: 11 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DZIP1L.

Disease | AllUniProt

Conditions DZIP1L is implicated in, by any mechanism.

Disease | GeneticClinVar

17 pathogenic / likely-pathogenic of 325 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Polycystic kidney disease 5
  • DZIP1L-related disorder

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)
1.3
gnomAD pLI
0
gnomAD missense Z
0.1
DepMap mean gene effect
0.08
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 DZIP1L 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 DZIP1L as an antibody target. Whether an autoantibody or antibody against DZIP1L could matter depends on whether native DZIP1L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DZIP1L 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 DZIP1L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/DZIP1L. 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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