Seroatlas · Human Serome Atlas

CLN5

Bis(monoacylglycero)phosphate synthase CLN5

Also known as: CLN5_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
O75503
Gene
CLN5
Ensembl
ENSG00000102805
Chromosome
13
Canonical length
358 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.[provided by RefSeq, Oct 2008]

Canonical amino-acid sequenceUniProt

358 residues, UniProt reviewed canonical sequence.

>O75503|CLN5
     1  MAQEVDTAQG AEMRRGAGAA RGRASWCWAL ALLWLAVVPG WSRVSGIPSR RHWPVPYKRF
    61  DFRPKPDPYC QAKYTFCPTG SPIPVMEGDD DIEVFRLQAP VWEFKYGDLL GHLKIMHDAI
   121  GFRSTLTGKN YTMEWYELFQ LGNCTFPHLR PEMDAPFWCN QGAACFFEGI DDVHWKENGT
   181  LVQVATISGN MFNQMAKWVK QDNETGIYYE TWNVKASPEK GAETWFDSYD CSKFVLRTFN
   241  KLAEFGAEFK NIETNYTRIF LYSGEPTYLG NETSVFGPTG NKTLGLAIKR FYYPFKPHLP
   301  TKEFLLSLLQ IFDAVIVHKQ FYLFYNFEYW FLPMKFPFIK ITYEEIPLPI RNKTLSGL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CLN5 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
Secreted
Secreted
Yes
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.33
Highest tissue expression
68 nTPM

Expression across tissuesHPA

Tissue

  • thyroid gland: 68 nTPM
  • kidney: 47 nTPM
  • parathyroid gland: 43 nTPM
  • epididymis: 40 nTPM
  • liver: 33 nTPM
  • ovary: 29 nTPM

Single-cell type

  • microglia: 6.1 nCPM
  • bergmann glia: 5.2 nCPM
  • respiratory ionocytes: 5.1 nCPM
  • oligodendrocytes: 5 nCPM
  • conjunctival goblet cells: 4.9 nCPM
  • oligodendrocyte progenitor cells: 3.8 nCPM

Immune cell

  • basophil: 58 nTPM
  • eosinophil: 39 nTPM
  • non-classical monocyte: 28 nTPM
  • T-reg: 26 nTPM
  • intermediate monocyte: 22 nTPM
  • naive CD4 T-cell: 22 nTPM

Brain region

  • cerebellum: 118 nTPM
  • cerebral cortex: 103 nTPM
  • choroid plexus: 102 nTPM
  • white matter: 101 nTPM
  • medulla oblongata: 91 nTPM
  • basal ganglia: 91 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CLN5.

Disease | AllUniProt

Conditions CLN5 is implicated in, by any mechanism.

  • Ceroid lipofuscinosis, neuronal, 5 (CLN5) MIM:256731

Disease | GeneticClinVar

154 pathogenic / likely-pathogenic of 776 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)
1.23
gnomAD pLI
0
gnomAD missense Z
-0.12
DepMap mean gene effect
0
DepMap dependency class
selective

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

  • Ceroid-lipofuscinosis neuronal protein 5
  • Ceroid-lipofuscinosis neuronal protein 5

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CLN5 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 CLN5 as an antibody target. Whether an autoantibody or antibody against CLN5 could matter depends on whether native CLN5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CLN5 is annotated as secreted, so native CLN5 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label CLN5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CLN5. 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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