Seroatlas · Human Serome Atlas

LZTFL1

Leucine zipper transcription factor-like protein 1

Also known as: BBS17, LZTL1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9NQ48
Gene
LZTFL1
Ensembl
ENSG00000163818
Chromosome
3
Canonical length
299 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Primary cilium,Primary cilium transition zone,Cytosol

OverviewNCBI Gene

This gene encodes a ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein complexes, regulates protein trafficking to the ciliary membrane. Nonsense mutations in this gene cause a form of Bardet-Biedl Syndrome; a ciliopathy characterized in part by polydactyly, obesity, cognitive impairment, hypogonadism, and kidney failure. This gene may also function as a tumor suppressor; possibly by interacting with E-cadherin and the actin cytoskeleton and thereby regulating the transition of epithelial cells to mesenchymal cells. [provided by RefSeq, Aug 2020]

Canonical amino-acid sequenceUniProt

299 residues, UniProt reviewed canonical sequence.

>Q9NQ48|LZTFL1
     1  MAELGLNEHH QNEVINYMRF ARSKRGLRLK TVDSCFQDLK ESRLVEDTFT IDEVSEVLNG
    61  LQAVVHSEVE SELINTAYTN VLLLRQLFAQ AEKWYLKLQT DISELENREL LEQVAEFEKA
   121  EITSSNKKPI LDVTKPKLAP LNEGGTAELL NKEILRLQEE NEKLKSRLKT IEIQATNALD
   181  EKSKLEKALQ DLQLDQGNQK DFIKAQDLSN LENTVAALKS EFQKTLNDKT ENQKSLEENL
   241  ATAKHDLLRV QEQLHMAEKE LEKKFQQTAA YRNMKEILTK KNDQIKDLRK RLAQYEPED

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LZTFL1 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)
0.47
Highest tissue expression
11 nTPM

Expression across tissuesHPA

Tissue

  • pituitary gland: 11 nTPM
  • cerebral cortex: 11 nTPM
  • testis: 9 nTPM
  • thyroid gland: 7.4 nTPM
  • basal ganglia: 7.3 nTPM
  • hypothalamus: 7.1 nTPM

Single-cell type

  • late primary spermatocytes: 356 nCPM
  • thymocytes: 141 nCPM
  • respiratory ciliated cells: 121 nCPM
  • fallopian tube ciliated cells: 106 nCPM
  • epididymal efferent duct ciliated cells: 98 nCPM
  • innate lymphoid cells: 83 nCPM

Immune cell

  • memory B-cell: 3 nTPM
  • myeloid DC: 1.4 nTPM
  • naive B-cell: 1.1 nTPM
  • plasmacytoid DC: 1.1 nTPM
  • total PBMC: 1.1 nTPM
  • MAIT T-cell: 1 nTPM

Brain region

  • choroid plexus: 7.4 nTPM
  • cerebral cortex: 4.7 nTPM
  • white matter: 3.6 nTPM
  • basal ganglia: 3.2 nTPM
  • hypothalamus: 2.8 nTPM
  • hippocampal formation: 2.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LZTFL1.

Disease | AllUniProt

Conditions LZTFL1 is implicated in, by any mechanism.

Disease | GeneticClinVar

21 pathogenic / likely-pathogenic of 234 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.57
gnomAD pLI
0.06
gnomAD missense Z
1.65
DepMap mean gene effect
-0.02
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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

  • Leucine zipper transcription factor-like protein 1
  • Leucine zipper

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of LZTFL1 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 LZTFL1 as an antibody target. Whether an autoantibody or antibody against LZTFL1 could matter depends on whether native LZTFL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

LZTFL1 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 LZTFL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/LZTFL1. 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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