HMGA1
High mobility group protein HMG-I/HMG-Y
Also known as: HMGA1_HUMAN, HMGIY
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P17096
- Gene
- HMGA1
- Ensembl
- ENSG00000137309
- Chromosome
- 6
- Canonical length
- 107 aa
- Protein class
- Cancer-related genes, Disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Nuclear membrane,Cytosol
OverviewNCBI Gene
This gene encodes a chromatin-associated protein involved in the regulation of gene transcription, integration of retroviruses into chromosomes, and the metastatic progression of cancer cells. The encoded protein preferentially binds to the minor groove of AT-rich regions in double-stranded DNA. Multiple transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene have been identified on multiple chromosomes. [provided by RefSeq, Jan 2016]
Canonical amino-acid sequenceUniProt
107 residues, UniProt reviewed canonical sequence.
>P17096|HMGA1
1 MSESSSKSSQ PLASKQEKDG TEKRGRGRPR KQPPVSPGTA LVGSQKEPSE VPTPKRPRGR
61 PKGSKNKGAA KTRKTTTTPG RKPRGRPKKL EKEEEEGISQ ESSEEEQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against HMGA1 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)
- 0.72
- Highest tissue expression
- 268 nTPM
Expression across tissuesHPA
Tissue
- esophagus: 268 nTPM
- bone marrow: 176 nTPM
- tonsil: 150 nTPM
- thymus: 146 nTPM
- skin: 135 nTPM
- lymph node: 132 nTPM
Single-cell type
- esophageal apical cells: 2,098 nCPM
- migrating cytotrophoblasts: 1,125 nCPM
- cytotrophoblasts: 1,096 nCPM
- syncytiotrophoblasts: 790 nCPM
- extravillous trophoblasts: 720 nCPM
- esophageal basal cells: 595 nCPM
Immune cell
- plasmacytoid DC: 88 nTPM
- myeloid DC: 82 nTPM
- memory B-cell: 65 nTPM
- T-reg: 57 nTPM
- naive CD4 T-cell: 53 nTPM
- memory CD4 T-cell: 46 nTPM
Brain region
- cerebral cortex: 73 nTPM
- white matter: 70 nTPM
- medulla oblongata: 69 nTPM
- hypothalamus: 66 nTPM
- thalamus: 64 nTPM
- pons: 64 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)
- 0.51
- gnomAD pLI
- 0.83
- gnomAD missense Z
- 1.81
- DepMap mean gene effect
- -0.61
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- base-excision repair
- intracellular signal transduction
- negative regulation of cell population proliferation
- negative regulation of DNA-templated transcription
- nucleosome disassembly
- oncogene-induced cell senescence
- positive regulation of DNA-templated transcription
- positive regulation of transcription by RNA polymerase II
- regulation of DNA-templated transcription
Molecular functions
- 5'-deoxyribose-5-phosphate lyase activity
- chromatin binding
- cis-regulatory region sequence-specific DNA binding
- DNA binding
- DNA binding, bending
- DNA-(apurinic or apyrimidinic site) endonuclease activity
- enzyme binding
- minor groove of adenine-thymine-rich DNA binding
- molecular adaptor activity
- molecular function activator activity
- nuclear retinoic acid receptor binding
- nuclear retinoid X receptor binding
- peroxisome proliferator activated receptor binding
- RNA binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- structural constituent of chromatin
- transcription coactivator activity
- transcription coregulator activity
- transcription coregulator binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of HMGA1 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 HMGA1 as an antibody target. Whether an autoantibody or antibody against HMGA1 could matter depends on whether native HMGA1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
HMGA1 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 HMGA1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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