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The protein encoded by this gene binds nucleosomal DNA and is associated with transcriptionally active chromatin. Along with a similar protein, HMG17, the encoded protein may help maintain an open chromatin configuration around transcribable genes. [provided by RefSeq, Aug 2011]
HMGN1 (High Mobility Group Nucleosome Binding Domain 1) is a Protein Coding gene. Diseases associated with HMGN1 include Cockayne Syndrome and Down Syndrome. Among its related pathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Chromatin Regulation / Acetylation. Gene Ontology (GO) annotations related to this gene include chromatin binding and nucleosomal DNA binding. An important paralog of this gene is HMGN2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | TAS | 8047885 |
GO:0031492 | nucleosomal DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | IEA | -- |
GO:0005634 | nucleus | IEA,HDA | 16780588 |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005737 | cytoplasm | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transcription-Coupled Nucleotide Excision Repair (TC-NER) | ||
2 | P38 MAPK Signaling Pathway (sino) | ||
3 | Chromatin Regulation / Acetylation | ||
4 | MAPK Erk Pathway |
.32
|
|
5 | ERK Signaling |
ERK Signaling
.61
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000720 | pyrimidine dimer repair by nucleotide-excision repair | IEA | -- |
GO:0006283 | transcription-coupled nucleotide-excision repair | TAS | -- |
GO:0006325 | chromatin organization | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IEA | -- |
GO:0010224 | response to UV-B | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HMGN1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | HMGN1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HMGN1 30 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Hmgn1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Hmgn1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | HMGN1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | HMGN1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | HMGN1 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | hmgn1-prov 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | MGC75785 30 |
|
SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
730941 | Likely Benign: not provided | 39,343,130(-) | T/C | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2389n106 | CNV | deletion | 24896259 |
nsv1073129 | CNV | deletion | 25765185 |
nsv587483 | CNV | loss | 21841781 |
nsv979537 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cockayne syndrome |
|
|
down syndrome |
|
|
uv-sensitive syndrome |
|
|
fanconi anemia, complementation group a |
|
|