HAND1
Heart- and neural crest derivatives-expressed protein 1
Also known as: bHLHa27, eHand, HAND1_HUMAN, Hxt, Thing1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O96004
- Gene
- HAND1
- Ensembl
- ENSG00000113196
- Chromosome
- 5
- Canonical length
- 215 aa
- Protein class
- Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Nuclear membrane,Nuclear bodies
- Quaternary structure
- Homodimer
OverviewNCBI Gene
The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
215 residues, UniProt reviewed canonical sequence.
>O96004|HAND1
1 MNLVGSYAHH HHHHHPHPAH PMLHEPFLFG PASRCHQERP YFQSWLLSPA DAAPDFPAGG
61 PPPAAAAAAT AYGPDARPGQ SPGRLEALGG RLGRRKGSGP KKERRRTESI NSAFAELREC
121 IPNVPADTKL SKIKTLRLAT SYIAYLMDVL AKDAQSGDPE AFKAELKKAD GGRESKRKRE
181 LQQHEGFPPA LGPVEKRIKG RTGWPQQVWA LELNQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against HAND1 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)
- 0.62
- Highest tissue expression
- 63 nTPM
Expression across tissuesHPA
Tissue
- colon: 63 nTPM
- heart muscle: 23 nTPM
- small intestine: 14 nTPM
- smooth muscle: 12 nTPM
- urinary bladder: 6.9 nTPM
- adrenal gland: 4.5 nTPM
Single-cell type
- smooth muscle cells: 12 nCPM
- cardiomyocytes: 3 nCPM
- epididymal efferent duct ciliated cells: 2.5 nCPM
- epicardial cells: 2.3 nCPM
- migrating cytotrophoblasts: 1.2 nCPM
- alveolar cells type 2: 1.1 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: 3.1 nTPM
- midbrain: 0.7 nTPM
- hypothalamus: 0.2 nTPM
- amygdala: 0 nTPM
- basal ganglia: 0 nTPM
- cerebellum: 0 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)
- 1.23
- gnomAD pLI
- 0.11
- gnomAD missense Z
- -0.28
- DepMap mean gene effect
- 0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- angiogenesis
- blastocyst development
- cardiac left ventricle formation
- cardiac right ventricle formation
- cardiac septum morphogenesis
- cartilage morphogenesis
- embryonic heart tube development
- heart development
- heart looping
- mesenchyme development
- mesoderm formation
- negative regulation of transcription by RNA polymerase II
- odontogenesis of dentin-containing tooth
- positive regulation of transcription by RNA polymerase II
- regulation of transcription by RNA polymerase II
- trophectodermal cell differentiation
- trophoblast giant cell differentiation
- ventricular cardiac muscle tissue morphogenesis
- embryonic heart tube formation
Molecular functions
- bHLH transcription factor binding
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- enzyme binding
- identical protein binding
- protein homodimerization activity
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding
- RNA polymerase II-specific DNA-binding transcription factor binding
- transcription coregulator binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of HAND1 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 HAND1 as an antibody target. Whether an autoantibody or antibody against HAND1 could matter depends on whether native HAND1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
HAND1 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 HAND1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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