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This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]
ASPM (Assembly Factor For Spindle Microtubules) is a Protein Coding gene. Diseases associated with ASPM include Microcephaly 5, Primary, Autosomal Recessive and Primary Autosomal Recessive Microcephaly. Gene Ontology (GO) annotations related to this gene include binding and calmodulin binding. An important paralog of this gene is EHBP1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA | -- |
GO:0005516 | calmodulin binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000922 | spindle pole | IDA | -- |
GO:0005634 | nucleus | IDA | 21044324 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005813 | centrosome | IDA | -- |
GO:0005819 | spindle | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001764 | neuron migration | IMP | -- |
GO:0002052 | positive regulation of neuroblast proliferation | IMP | -- |
GO:0007049 | cell cycle | IEA | -- |
GO:0007051 | spindle organization | IEA,IMP | 21044324 |
GO:0007283 | spermatogenesis | IMP | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ASPM 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ASPM 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ASPM 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Aspm 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Aspm 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | ASPM 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ASPM 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ASPM 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ASPM 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | aspm 30 |
|
||
Str.15458 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.7778 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | aspm 30 31 |
|
OneToOne | |
Dr.19463 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.12308 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | asp 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | aspm-1 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
873870 | Uncertain Significance: Primary autosomal recessive microcephaly 5 | 197,100,515(-) |
A/G NM_018136.5(ASPM):c.8736T>C (p.Ser2912=) |
SYNONYMOUS_VARIANT,INTRON | |
873986 | Uncertain Significance: Primary autosomal recessive microcephaly 5 | 197,103,558(-) |
T/A NM_018136.5(ASPM):c.5693A>T (p.His1898Leu) |
MISSENSE_VARIANT,INTRON | |
874053 | Uncertain Significance: Primary autosomal recessive microcephaly 5 | 197,104,934(-) |
C/T NM_018136.5(ASPM):c.4317G>A (p.Met1439Ile) |
MISSENSE_VARIANT,INTRON | |
874054 | Uncertain Significance: Primary autosomal recessive microcephaly 5 | 197,105,045(-) |
C/T NM_018136.5(ASPM):c.4206G>A (p.Arg1402=) |
SYNONYMOUS_VARIANT,INTRON | |
874104 | Uncertain Significance: Primary autosomal recessive microcephaly 5 | 197,124,256(-) |
T/C NM_018136.5(ASPM):c.3244A>G (p.Thr1082Ala) |
MISSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
microcephaly 5, primary, autosomal recessive |
|
|
primary autosomal recessive microcephaly |
|
|
leber congenital amaurosis 8 |
|
|
retinitis pigmentosa 12 |
|
|
microcephaly 1, primary, autosomal recessive |
|
|