Seroatlas · Human Serome Atlas

HELT

Hairy and enhancer of split-related protein HELT

Also known as: bHLHb44, HCM1228, HELT_HUMAN, HESL, MEGANE, Mgn

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

Protein identityUniProt · HPA

UniProt accession
A6NFD8
Gene
HELT
Ensembl
ENSG00000187821
Chromosome
4
Canonical length
242 aa
Protein class
Predicted intracellular proteins, Transcription factors

OverviewNCBI Gene

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of neurogenesis. Predicted to act upstream of or within several processes, including nervous system development; regulation of transcription by RNA polymerase II; and suckling behavior. Predicted to be located in chromatin. Predicted to be part of transcription regulator complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

242 residues, UniProt reviewed canonical sequence.

>A6NFD8|HELT
     1  MSDKLKERKR TPVSHKVIEK RRRDRINRCL NELGKTVPMA LAKQSSGKLE KAEILEMTVQ
    61  YLRALHSADF PRGREKAELL AEFANYFHYG YHECMKNLVH YLTTVERMET KDTKYARILA
   121  FLQSKARLGA EPAFPPLGSL PEPDFSYQLH PAGPEFAGHS PGEAAVFPQG SGAGPFPWPP
   181  GAARSPALPY LPSAPVPLAS PAQQHSPFLT PVQGLDRHYL NLIGHAHPNA LNLHTPQHPP
   241  VL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HELT 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
1.6 nTPM

Expression across tissuesHPA

Tissue

  • kidney: 1.6 nTPM
  • skin: 0.7 nTPM
  • choroid plexus: 0.3 nTPM
  • lung: 0.3 nTPM
  • spleen: 0.1 nTPM
  • stomach: 0.1 nTPM

Single-cell type

  • alveolar cells type 1: 2.5 nCPM
  • distal convoluted tubule cells: 1.2 nCPM
  • loop of henle epithelial cells: 0.7 nCPM
  • early spermatids: 0.4 nCPM
  • nk-cells: 0.3 nCPM
  • podocytes: 0.3 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • thalamus: 1.2 nTPM
  • cerebellum: 0.6 nTPM
  • midbrain: 0.6 nTPM
  • choroid plexus: 0.5 nTPM
  • medulla oblongata: 0.5 nTPM
  • amygdala: 0.1 nTPM

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)
1.18
gnomAD pLI
0
gnomAD missense Z
-0.23
DepMap mean gene effect
0.09
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 HELT 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 HELT as an antibody target. Whether an autoantibody or antibody against HELT could matter depends on whether native HELT is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

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

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