Seroatlas · Human Serome Atlas

HYLS1

Centriolar and ciliogenesis-associated protein HYLS1

Also known as: FLJ32915, HYLS1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q96M11
Gene: HYLS1
Ensembl: ENSG00000198331
Chromosome: 11
Canonical length: 299 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Plasma membrane,Cytosol

OverviewNCBI Gene

This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008]

Canonical amino-acid sequenceUniProt

299 residues, UniProt reviewed canonical sequence.

>Q96M11|HYLS1
     1  MEELLPDGQI WANMDPEERM LAAATAFTHI CAGQGEGDVR REAQSIQYDP YSKASVAPGK
    61  RPALPVQLQY PHVESNVPSE TVSEASQRLR KPVMKRKVLR RKPDGEVLVT DESIISESES
   121  GTENDQDLWD LRQRLMNVQF QEDKESSFDV SQKFNLPHEY QGISQDQLIC SLQREGMGSP
   181  AYEQDLIVAS RPKSFILPKL DQLSRNRGKT DRVARYFEYK RDWDSIRLPG EDHRKELRWG
   241  VREQMLCRAE PQSKPQHIYV PNNYLVPTEK KRSALRWGVR CDLANGVIPR KLPFPLSPS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HYLS1 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): 0.61
Highest tissue expression: 25 nTPM

Expression across tissuesHPA

Tissue

testis: 25 nTPM
cerebellum: 9.7 nTPM
tonsil: 8.5 nTPM
cerebral cortex: 7.4 nTPM
epididymis: 6.3 nTPM
liver: 6.1 nTPM

Single-cell type

early spermatids: 136 nCPM
oocytes: 129 nCPM
late primary spermatocytes: 119 nCPM
late spermatids: 83 nCPM
early primary spermatocytes: 68 nCPM
differentiating spermatogonia: 36 nCPM

Immune cell

plasmacytoid DC: 21 nTPM
memory B-cell: 16 nTPM
naive B-cell: 16 nTPM
T-reg: 16 nTPM
memory CD4 T-cell: 14 nTPM
naive CD4 T-cell: 13 nTPM

Brain region

cerebellum: 13 nTPM
cerebral cortex: 10 nTPM
hypothalamus: 9.1 nTPM
basal ganglia: 8.4 nTPM
white matter: 7.5 nTPM
pons: 7.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HYLS1.

Disease | AllUniProt

Conditions HYLS1 is implicated in, by any mechanism.

Hydrolethalus syndrome 1 (HLS1) MIM:236680

Disease | GeneticClinVar

23 pathogenic / likely-pathogenic of 233 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hydrolethalus syndrome
Hydrolethalus syndrome 1

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): 1.43
gnomAD pLI: 0
gnomAD missense Z: 0.18
DepMap mean gene effect: 0.01
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

cilium assembly

Cellular components

Protein domainsUniProt · Pfam · InterPro

Centriolar and ciliogenesis-associated protein HYLS1
Centriolar and ciliogenesis-associated protein HYLS1, C-terminal domain
Centriolar and ciliogenesis-associated protein
Hydrolethalus syndrome protein 1 C-terminus

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads HYLS1 as an antibody target. Whether an autoantibody or antibody against HYLS1 could matter depends on whether native HYLS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HYLS1 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 HYLS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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