HMBOX1
Homeobox-containing protein 1
Also known as: FLJ21616, HMBX1_HUMAN, HNF1LA, HOT1, PBHNF
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q6NT76
- Gene
- HMBOX1
- Ensembl
- ENSG00000147421
- Chromosome
- 8
- Canonical length
- 420 aa
- Protein class
- Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Nuclear bodies,Cytosol
OverviewNCBI Gene
Enables double-stranded telomeric DNA binding activity; identical protein binding activity; and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II; telomere maintenance via telomerase; and telomere-telomerase complex assembly. Located in several cellular components, including centrosome; chromosome, telomeric region; and nuclear body. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
420 residues, UniProt reviewed canonical sequence.
>Q6NT76|HMBOX1
1 MLSSFPVVLL ETMSHYTDEP RFTIEQIDLL QRLRRTGMTK HEILHALETL DRLDQEHSDK
61 FGRRSSYGGS SYGNSTNNVP ASSSTATAST QTQHSGMSPS PSNSYDTSPQ PCTTNQNGRE
121 NNERLSTSNG KMSPTRYHAN SMGQRSYSFE ASEEDLDVDD KVEELMRRDS SVIKEEIKAF
181 LANRRISQAV VAQVTGISQS RISHWLLQQG SDLSEQKKRA FYRWYQLEKT NPGATLSMRP
241 APIPIEDPEW RQTPPPVSAT SGTFRLRRGS RFTWRKECLA VMESYFNENQ YPDEAKREEI
301 ANACNAVIQK PGKKLSDLER VTSLKVYNWF ANRRKEIKRR ANIEAAILES HGIDVQSPGG
361 HSNSDDVDGN DYSEQDDSTS HSDHQDPISL AVEMAAVNHT ILALARQGAN EIKTEALDDDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against HMBOX1 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)
- 0.53
- Highest tissue expression
- 10 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 10 nTPM
- testis: 7.1 nTPM
- adrenal gland: 6.4 nTPM
- placenta: 6.3 nTPM
- thyroid gland: 5.8 nTPM
- retina: 5.7 nTPM
Single-cell type
- adrenal cortex cells: 456 nCPM
- renal collecting duct intercalated cells: 420 nCPM
- pituicytes/fscs: 387 nCPM
- lymphatic endothelial cells: 262 nCPM
- vascular endothelial cells: 248 nCPM
- thyrotrophs: 216 nCPM
Immune cell
- non-classical monocyte: 4.8 nTPM
- memory B-cell: 3.4 nTPM
- basophil: 3.2 nTPM
- MAIT T-cell: 2.7 nTPM
- naive B-cell: 2.7 nTPM
- intermediate monocyte: 2.6 nTPM
Brain region
- midbrain: 86 nTPM
- hypothalamus: 81 nTPM
- pons: 75 nTPM
- medulla oblongata: 74 nTPM
- white matter: 67 nTPM
- thalamus: 67 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)
- 0.23
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.46
- DepMap mean gene effect
- 0.14
- 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
- negative regulation of DNA-templated transcription
- negative regulation of transcription by RNA polymerase II
- positive regulation of DNA-templated transcription
- telomere maintenance via telomerase
- telomere-telomerase complex assembly
Molecular functions
- double-stranded telomeric DNA binding
- identical protein binding
- protein-containing complex binding
- sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
- telomeric DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Homeodomain
- Cro/C1-type, helix-turn-helix domain
- Hepatocyte nuclear factor 1, N-terminal
- Homedomain-like superfamily
- Lambda repressor-like, DNA-binding domain superfamily
- HNF-1, dimerization domain
- HNF-1, POU-specific (POUs) atypical domain
- Homeodomain
- Hepatocyte nuclear factor 1 (HNF-1), N terminus
- Homeobox-containing protein 1
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of HMBOX1 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 HMBOX1 as an antibody target. Whether an autoantibody or antibody against HMBOX1 could matter depends on whether native HMBOX1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
HMBOX1 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 HMBOX1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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