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This gene encodes a protein that belongs to the High Mobility Group-box superfamily. The encoded non-histone, nuclear DNA-binding protein regulates transcription, and is involved in organization of DNA. This protein plays a role in several cellular processes, including inflammation, cell differentiation and tumor cell migration. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2015]
HMGB1 (High Mobility Group Box 1) is a Protein Coding gene. Diseases associated with HMGB1 include 13Q12.3 Microdeletion Syndrome and Endophthalmitis. Among its related pathways are Activated TLR4 signalling and amb2 Integrin signaling. Gene Ontology (GO) annotations related to this gene include chromatin binding. An important paralog of this gene is HMGB2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000400 | four-way junction DNA binding | ISS | -- |
GO:0000405 | bubble DNA binding | ISS | -- |
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | 19158276 |
GO:0001530 | lipopolysaccharide binding | IDA | 21660935 |
GO:0001786 | phosphatidylserine binding | IDA | 18768881 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | IBA | 21873635 |
GO:0000793 | condensed chromosome | IDA | 12925773 |
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | ISS | -- |
GO:0005623 | cell | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activated TLR4 signalling | ||
2 | Cytosolic sensors of pathogen-associated DNA | ||
3 | Apoptotic execution phase |
.31
|
|
4 | Innate Immune System |
.61
|
|
5 | Apoptosis induced DNA fragmentation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IMP | 19158276 |
GO:0001773 | myeloid dendritic cell activation | ISS | -- |
GO:0002218 | activation of innate immune response | IBA,IDA | 24971542 |
GO:0002224 | toll-like receptor signaling pathway | TAS | -- |
GO:0002250 | adaptive immune response | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HMGB1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Hmgb1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
OneToMany | |
HMGB1 30 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | HMGB1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | LOC685520 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | HMGB1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | HMGB1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | HMGB1 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | hmgb1b 31 |
|
OneToMany | |
hmgb1a 30 31 |
|
OneToMany | |||
wufb23c02 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8407 30 |
|
SNP ID | Clinical significance and condition | Chr 13 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
710363 | Likely Benign: not provided | 30,461,464(-) | T/C | MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT | |
747322 | Likely Benign: not provided | 30,463,266(-) | G/A | SYNONYMOUS_VARIANT | |
776790 | Benign: not provided | 30,462,544(-) | A/. | SYNONYMOUS_VARIANT,NO_SEQUENCE_ALTERATION | |
VAR_046451 | Gastric-carcinoma cell line | p.Gly11Arg | |||
VAR_046452 | Gastric-carcinoma cell line | p.Ala149Glu |
Disorder | Aliases | PubMed IDs |
---|---|---|
13q12.3 microdeletion syndrome |
|
|
endophthalmitis |
|
|
toxic shock syndrome |
|
|
chronic kidney disease |
|
|
staphylococcal toxic shock syndrome |
|
|