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 VLLocalizationUniProt · 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
- anterior/posterior pattern specification
- central nervous system development
- multicellular organism growth
- positive regulation of transcription by RNA polymerase II
- post-embryonic development
- regulation of neurogenesis
- regulation of transcription by RNA polymerase II
- suckling behavior
- transcription by RNA polymerase II
- GABAergic neuron differentiation in basal ganglia
Molecular functions
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- identical protein binding
- protein dimerization activity
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
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.
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