Seroatlas · Human Serome Atlas

TWIST1

Twist-related protein 1

Also known as: ACS3, bHLHa38, BPES2, BPES3, CRS, CRS1, H-twist, SCS, TWIST, TWST1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q15672
Gene
TWIST1
Ensembl
ENSG00000122691
Chromosome
7
Canonical length
202 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes a basic helix-loop-helix (bHLH) transcription factor that plays an important role in embryonic development. The encoded protein forms both homodimers and heterodimers that bind to DNA E box sequences and regulate the transcription of genes involved in cranial suture closure during skull development. This protein may also regulate neural tube closure, limb development and brown fat metabolism. This gene is hypermethylated and overexpressed in multiple human cancers, and the encoded protein promotes tumor cell invasion and metastasis, as well as metastatic recurrence. Mutations in this gene cause Saethre-Chotzen syndrome in human patients, which is characterized by craniosynostosis, ptosis and hypertelorism. [provided by RefSeq, Jul 2020]

Canonical amino-acid sequenceUniProt

202 residues, UniProt reviewed canonical sequence.

>Q15672|TWIST1
     1  MMQDVSSSPV SPADDSLSNS EEEPDRQQPP SGKRGGRKRR SSRRSAGGGA GPGGAAGGGV
    61  GGGDEPGSPA QGKRGKKSAG CGGGGGAGGG GGSSSGGGSP QSYEELQTQR VMANVRERQR
   121  TQSLNEAFAA LRKIIPTLPS DKLSKIQTLK LAARYIDFLY QVLQSDELDS KMASCSYVAH
   181  ERLSYAFSVW RMEGAWSMSA SH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TWIST1 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)
0.6
Highest tissue expression
25 nTPM

Expression across tissuesHPA

Tissue

  • breast: 25 nTPM
  • adipose tissue: 21 nTPM
  • endometrium: 18 nTPM
  • skin: 16 nTPM
  • blood vessel: 14 nTPM
  • placenta: 12 nTPM

Single-cell type

  • fibroblasts: 109 nCPM
  • endometrial stromal cells: 86 nCPM
  • adipocytes: 78 nCPM
  • smooth muscle cells: 59 nCPM
  • pericytes: 52 nCPM
  • fibro-adipogenic progenitors: 31 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

  • choroid plexus: 2.9 nTPM
  • cerebral cortex: 2.7 nTPM
  • midbrain: 2.2 nTPM
  • amygdala: 1.9 nTPM
  • white matter: 1.7 nTPM
  • pons: 1.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TWIST1.

Disease | AllUniProt

Conditions TWIST1 is implicated in, by any mechanism.

Disease | GeneticClinVar

97 pathogenic / likely-pathogenic of 271 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on TWIST1 was assayed in.

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)
1.06
gnomAD pLI
0.34
gnomAD missense Z
1.06
DepMap mean gene effect
0.05
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

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TWIST1 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 TWIST1 as an antibody target. Whether an autoantibody or antibody against TWIST1 could matter depends on whether native TWIST1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TWIST1 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 TWIST1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TWIST1. 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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