Seroatlas · Human Serome Atlas

HELLS

Lymphoid-specific helicase

Also known as: HELLS_HUMAN, LSH, Nbla10143, PASG, SMARCA6

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

Protein identityUniProt · HPA

UniProt accession
Q9NRZ9
Gene
HELLS
Ensembl
ENSG00000119969
Chromosome
10
Canonical length
838 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Golgi apparatus,Vesicles

OverviewNCBI Gene

This gene encodes a lymphoid-specific helicase. Other helicases function in processes involving DNA strand separation, including replication, repair, recombination, and transcription. This protein is thought to be involved with cellular proliferation and may play a role in leukemogenesis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2014]

Canonical amino-acid sequenceUniProt

838 residues, UniProt reviewed canonical sequence.

>Q9NRZ9|HELLS
     1  MPAERPAGSG GSEAPAMVEQ LDTAVITPAM LEEEEQLEAA GLERERKMLE KARMSWDRES
    61  TEIRYRRLQH LLEKSNIYSK FLLTKMEQQQ LEEQKKKEKL ERKKESLKVK KGKNSIDASE
   121  EKPVMRKKRG REDESYNISE VMSKEEILSV AKKNKKENED ENSSSTNLCV EDLQKNKDSN
   181  SIIKDRLSET VRQNTKFFFD PVRKCNGQPV PFQQPKHFTG GVMRWYQVEG MEWLRMLWEN
   241  GINGILADEM GLGKTVQCIA TIALMIQRGV PGPFLVCGPL STLPNWMAEF KRFTPDIPTM
   301  LYHGTQEERQ KLVRNIYKRK GTLQIHPVVI TSFEIAMRDR NALQHCYWKY LIVDEGHRIK
   361  NMKCRLIREL KRFNADNKLL LTGTPLQNNL SELWSLLNFL LPDVFDDLKS FESWFDITSL
   421  SETAEDIIAK EREQNVLHML HQILTPFLLR RLKSDVALEV PPKREVVVYA PLSKKQEIFY
   481  TAIVNRTIAN MFGSSEKETI ELSPTGRPKR RTRKSINYSK IDDFPNELEK LISQIQPEVD
   541  RERAVVEVNI PVESEVNLKL QNIMMLLRKC CNHPYLIEYP IDPVTQEFKI DEELVTNSGK
   601  FLILDRMLPE LKKRGHKVLL FSQMTSMLDI LMDYCHLRDF NFSRLDGSMS YSEREKNMHS
   661  FNTDPEVFIF LVSTRAGGLG INLTAADTVI IYDSDWNPQS DLQAQDRCHR IGQTKPVVVY
   721  RLVTANTIDQ KIVERAAAKR KLEKLIIHKN HFKGGQSGLN LSKNFLDPKE LMELLKSRDY
   781  EREIKGSREK VISDKDLELL LDRSDLIDQM NASGPIKEKM GIFKILENSE DSSPECLF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HELLS 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)
0.34
Highest tissue expression
11 nTPM

Expression across tissuesHPA

Tissue

  • thymus: 11 nTPM
  • bone marrow: 9.2 nTPM
  • tonsil: 9 nTPM
  • testis: 8.7 nTPM
  • lymph node: 8 nTPM
  • cerebellum: 5.5 nTPM

Single-cell type

  • early primary spermatocytes: 224 nCPM
  • differentiating spermatogonia: 155 nCPM
  • respiratory deuterosomal cells: 149 nCPM
  • erythrocyte progenitors: 138 nCPM
  • megakaryocyte progenitors: 117 nCPM
  • monocyte progenitors: 107 nCPM

Immune cell

  • T-reg: 3.1 nTPM
  • NK-cell: 2.8 nTPM
  • memory CD8 T-cell: 1.9 nTPM
  • plasmacytoid DC: 1.6 nTPM
  • memory B-cell: 1.1 nTPM
  • memory CD4 T-cell: 1.1 nTPM

Brain region

  • cerebellum: 7.5 nTPM
  • white matter: 3.5 nTPM
  • cerebral cortex: 3.3 nTPM
  • hypothalamus: 3.3 nTPM
  • medulla oblongata: 3.1 nTPM
  • midbrain: 3.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HELLS.

Disease | AllUniProt

Conditions HELLS is implicated in, by any mechanism.

  • Immunodeficiency-centromeric instability-facial anomalies syndrome 4 (ICF4) MIM:616911

Disease | GeneticClinVar

20 pathogenic / likely-pathogenic of 479 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Immunodeficiency-centromeric instability-facial anomalies syndrome 4
  • HELLS-related disorder

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)
0.24
gnomAD pLI
1
gnomAD missense Z
2.99
DepMap mean gene effect
0.07
DepMap dependency class
none

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

KeywordsUniProt

InteractionsUniProt · HPA

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

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

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