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This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitotic chromosomes, except during the early phase of chromosome condensation. During interphase, the protein has a distinct punctate nucleolar localization. Alternatively spliced transcript variants encoding different proteins have been described. [provided by RefSeq, Jul 2013]
NCAPH (Non-SMC Condensin I Complex Subunit H) is a Protein Coding gene. Diseases associated with NCAPH include Microcephaly 23, Primary, Autosomal Recessive and Microcephaly. Among its related pathways are Mitotic Prometaphase and Cell Cycle, Mitotic.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003682 | chromatin binding | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 17268547 |
GO:0044547 | DNA topoisomerase binding | IBA | 21873635 |
GO:0072587 | DNA topoisomerase (ATP-hydrolyzing) activator activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000796 | condensin complex | IEA,IDA | 11136719 |
GO:0000799 | nuclear condensin complex | IBA | 21873635 |
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005694 | chromosome | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cell Cycle, Mitotic |
.83
|
.60
|
2 | Mitotic Prometaphase | ||
3 | Cell cycle_Chromosome condensation in prometaphase |
Cell cycle_Chromosome condensation in prometaphase
-
|
|
4 | Aurora B signaling |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007049 | cell cycle | IEA | -- |
GO:0007076 | mitotic chromosome condensation | IEA,IMP | 27737959 |
GO:0007143 | female meiotic nuclear division | IEA | -- |
GO:0010032 | meiotic chromosome condensation | IEA | -- |
GO:0030261 | chromosome condensation | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - |
ExUns: | 16 | ^ | 17 | ^ | 18a | · | 18b |
---|---|---|---|---|---|---|---|
SP1: | |||||||
SP2: | |||||||
SP3: | |||||||
SP4: | |||||||
SP5: | |||||||
SP6: | |||||||
SP7: | |||||||
SP8: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NCAPH 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NCAPH 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NCAPH 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ncaph 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | NCAPH 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | NCAPH 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | NCAPH 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NCAPH 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ncaph 30 |
|
||
Str.10092 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | brrn1-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ncaph 30 31 |
|
OneToOne | |
wufc69h06 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.7620 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011508 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | barr 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | BRN1 31 33 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.5013 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
716739 | Benign: not provided | 96,344,170(+) | A/G | MISSENSE_VARIANT | |
730784 | Likely Benign: not provided | 96,367,346(+) | G/A | SYNONYMOUS_VARIANT | |
745992 | Likely Benign: not provided | 96,365,868(+) | T/C | INTRON_VARIANT | |
769568 | Benign: not provided | 96,353,406(+) | A/G | INTRON_VARIANT | |
773426 | Likely Benign: not provided | 96,354,330(+) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv607e201 | CNV | deletion | 23290073 |
esv3425717 | CNV | duplication | 20981092 |
esv3591652 | OTHER | inversion | 21293372 |
esv5003 | OTHER | complex | 18987735 |
nsv1135873 | CNV | deletion | 24896259 |
nsv508155 | CNV | deletion | 20534489 |
nsv819311 | CNV | loss | 19587683 |
nsv834305 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
microcephaly 23, primary, autosomal recessive |
|
|
microcephaly |
|
|