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ASPM Gene(Protein Coding)

Abnormal Spindle Microtubule Assembly

GCID:
GC01M197053
GIFtS:
53
Genes Participants
UDN Logo

Aliases for ASPM Gene

Aliases for ASPM Gene

  • Abnormal Spindle Microtubule Assembly 2 3 5
  • MCPH5 3 4
  • Asp (Abnormal Spindle) Homolog, Microcephaly Associated (Drosophila) 2
  • Asp (Abnormal Spindle)-Like, Microcephaly Associated (Drosophila) 2
  • Asp (Abnormal Spindle) Homolog, Microcephaly Associated 3
  • Abnormal Spindle-Like Microcephaly-Associated Protein 3
  • Microcephaly, Primary Autosomal Recessive 5 2
  • Abnormal Spindle Protein Homolog 4
  • Asp Homolog 4
  • Calmbp1 3
  • ASP 3

External Ids for ASPM Gene

Previous HGNC Symbols for ASPM Gene

  • MCPH5

Previous GeneCards Identifiers for ASPM Gene

  • GC01U990488
  • GC01M192511
  • GC01M193519
  • GC01M194341
  • GC01M193785
  • GC01M195319
  • GC01M168210

Summaries for ASPM Gene

Entrez Gene Summary for ASPM Gene

  • 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]

GeneCards Summary for ASPM Gene

ASPM (Abnormal Spindle Microtubule Assembly) is a Protein Coding gene. Diseases associated with ASPM include Microcephaly 5, Primary, Autosomal Recessive and Autosomal Recessive Primary Microcephaly. GO annotations related to this gene include binding and calmodulin binding.

UniProtKB/Swiss-Prot for ASPM Gene

  • Probable role in mitotic spindle regulation and coordination of mitotic processes. May have a preferential role in regulating neurogenesis.

Gene Wiki entry for ASPM Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASPM Gene

Genomics for ASPM Gene

Products:

  1. Regulatory Element

Regulatory Elements for ASPM Gene

Enhancers for ASPM Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G197173 0.9 ENCODE 12.1 -27.5 -27538 1.7 FOXA2 ATF1 MLX ARID4B DMAP1 YY1 PAF1 MXD4 PPARG KAT8 ASPM ZBTB41 CRB1 CFHR3
GH01G197178 0.8 ENCODE 12.1 -32.4 -32431 0.9 CTCF PKNOX1 BACH1 ZNF384 RAD21 FOXM1 ZNF316 NCOR1 FOXK2 NFE2 ASPM CRB1 ZBTB41 CFHR3
GH01G197144 1.1 ENCODE 0.7 +0.6 590 3.3 PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 SLC30A9 FOS KLF13 CFHR3 ZBTB41 ASPM SEPT14P12
GH01G197143 0.2 Ensembl 0.7 +3.1 3094 0.4 ZBTB41 CRB1 CFHR3 SEPT14P12 ASPM
GH01G197194 0.4 Ensembl 0.2 -48.2 -48207 0.2 ZNF512 ZBTB41 ASPM
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ASPM on UCSC Golden Path with GeneCards custom track

Promoters for ASPM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000017638 694 2801 PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 SLC30A9 FOS PAF1

Transcription factor binding sites by QIAGEN in the ASPM gene promoter:

Genomic Location for ASPM Gene

Chromosome:
1
Start:
197,084,127 bp from pter
End:
197,146,694 bp from pter
Size:
62,568 bases
Orientation:
Minus strand

Genomic View for ASPM Gene

Genes around ASPM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASPM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASPM Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ASPM Gene

Proteins for ASPM Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ASPM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZT6-ASPM_HUMAN
    Recommended name:
    Abnormal spindle-like microcephaly-associated protein
    Protein Accession:
    Q8IZT6
    Secondary Accessions:
    • Q4G1H1
    • Q5VYL3
    • Q86UX4
    • Q8IUL2
    • Q8IZJ7
    • Q8IZJ8
    • Q8IZJ9
    • Q8N4D1
    • Q9NVS1
    • Q9NVT6

    Protein attributes for ASPM Gene

    Size:
    3477 amino acids
    Molecular mass:
    409800 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH34607.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA91676.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ASPM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASPM Gene

Protein Expression for ASPM Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ASPM Gene

  • Ubiquitination at posLast=177177, posLast=13491349, posLast=15191519, posLast=15371537, Lys1830, Lys1843, Lys1875, Lys1903, posLast=20022002, posLast=20532053, posLast=21712171, Lys2358, Lys3061, Lys3169, posLast=34043404, and Lys3446
  • Modification sites at PhosphoSitePlus

Other Protein References for ASPM Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ASPM Gene

Domains & Families for ASPM Gene

No data available for Gene Families and UniProtKB/Swiss-Prot for ASPM Gene

Function for ASPM Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for ASPM Gene

UniProtKB/Swiss-Prot Function:
Probable role in mitotic spindle regulation and coordination of mitotic processes. May have a preferential role in regulating neurogenesis.

Gene Ontology (GO) - Molecular Function for ASPM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with ASPM: view
genes like me logo Genes that share phenotypes with ASPM: view

Human Phenotype Ontology for ASPM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ASPM Gene

MGI Knock Outs for ASPM:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ASPM Gene

Localization for ASPM Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASPM Gene

Cytoplasm. Cytoplasm, cytoskeleton, spindle. Nucleus. Note=The nuclear-cytoplasmic distribution could be regulated by the availability of calmodulin (By similarity). Localizes to spindle poles during mitosis. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASPM gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 4
plasma membrane 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ASPM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21044324
GO:0005737 cytoplasm IEA --
GO:0005819 spindle IEA --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
genes like me logo Genes that share ontologies with ASPM: view

Pathways & Interactions for ASPM Gene

SuperPathways for ASPM Gene

PathCards logo More details on SuperPathways for ASPM
No Data Available

Gene Ontology (GO) - Biological Process for ASPM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IEA --
GO:0002052 positive regulation of neuroblast proliferation IEA --
GO:0007049 cell cycle IEA --
GO:0007051 spindle organization IMP 21044324
GO:0007067 mitotic nuclear division IEA --
genes like me logo Genes that share ontologies with ASPM: view

No data available for Pathways by source and SIGNOR curated interactions for ASPM Gene

Drugs & Compounds for ASPM Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for ASPM Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for ASPM Gene

(2) REFSEQ mRNAs :
(20) Additional mRNA sequences :
(130) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ASPM Gene

Asp (abnormal spindle) homolog, microcephaly associated (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASPM Gene

No ASD Table

Relevant External Links for ASPM Gene

GeneLoc Exon Structure for
ASPM
ECgene alternative splicing isoforms for
ASPM

Expression for ASPM Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASPM Gene

mRNA expression in normal human tissues for ASPM Gene
mRNA expression by BioGPS for ASPM GenemRNA expression by GTEx for ASPM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ASPM Gene

This gene is overexpressed in Esophagus - Mucosa (x4.0).

Protein differential expression in normal tissues from HIPED for ASPM Gene

This gene is overexpressed in Urine (29.7), Esophagus (15.8), and Platelet (12.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ASPM Gene



NURSA nuclear receptor signaling pathways regulating expression of ASPM Gene:

ASPM

SOURCE GeneReport for Unigene cluster for ASPM Gene:

Hs.121028

Evidence on tissue expression from TISSUES for ASPM Gene

  • Nervous system(4.4)
  • Kidney(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ASPM Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • pelvis
  • ureter
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with ASPM: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ASPM Gene

Orthologs for ASPM Gene

This gene was present in the common ancestor of animals.

Orthologs for ASPM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ASPM 34 35
  • 99.52 (n)
dog
(Canis familiaris)
 Mammalia ASPM 34 35
  • 86.29 (n)
cow
(Bos Taurus)
 Mammalia ASPM 34 35
  • 80.43 (n)
mouse
(Mus musculus)
 Mammalia Aspm 34 16 35
  • 74.57 (n)
rat
(Rattus norvegicus)
 Mammalia Aspm 34
  • 73.63 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ASPM 35
  • 65 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia ASPM 35
  • 61 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ASPM 34 35
  • 61.32 (n)
lizard
(Anolis carolinensis)
 Reptilia ASPM 35
  • 47 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia aspm 34
  • 54.75 (n)
Str.15458 34
African clawed frog
(Xenopus laevis)
 Amphibia Xl.7778 34
zebrafish
(Danio rerio)
 Actinopterygii aspm 34 35
  • 50.51 (n)
Dr.19463 34
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.12308 34
fruit fly
(Drosophila melanogaster)
 Insecta asp 35
  • 25 (a)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea aspm-1 35
  • 18 (a)
 OneToOne
Species where no ortholog for ASPM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ASPM Gene

ENSEMBL:
Gene Tree for ASPM (if available)
TreeFam:
Gene Tree for ASPM (if available)

Paralogs for ASPM Gene

No data available for Paralogs for ASPM Gene

Variants for ASPM Gene

Sequence variations from dbSNP and Humsavar for ASPM Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1057518268 Pathogenic 197,142,525(-) AAAGA(-/AA)GAGCG reference, frameshift-variant
rs1057518269 Pathogenic 197,133,360(-) CTATG(A/G)AAAGA reference, stop-gained
rs137852994 Pathogenic 197,093,168(-) TCATA(C/T)AAAAA reference, stop-gained
rs137852995 Pathogenic 197,117,876(-) TATTG(A/G)CGAAG reference, stop-gained
rs137852996 Pathogenic 197,144,049(-) AAGGC(C/T)GAGTA reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for ASPM Gene

Variant ID Type Subtype PubMed ID
esv2758990 CNV gain+loss 17122850
nsv528460 CNV gain 19592680
nsv548871 CNV loss 21841781
nsv826053 CNV loss 20364138
nsv946564 CNV duplication 23825009
nsv946565 CNV duplication 23825009

Variation tolerance for ASPM Gene

Residual Variation Intolerance Score: 71.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.00; 96.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ASPM Gene

Human Gene Mutation Database (HGMD)
ASPM
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASPM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASPM Gene

Disorders for ASPM Gene

MalaCards: The human disease database

(8) MalaCards diseases for ASPM Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ASPM in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ASPM_HUMAN
  • Microcephaly 5, primary, autosomal recessive (MCPH5) [MIM:608716]: A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. {ECO:0000269 PubMed:12355089, ECO:0000269 PubMed:14574646, ECO:0000269 PubMed:22989186}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ASPM

Genetic Association Database (GAD)
ASPM
Human Genome Epidemiology (HuGE) Navigator
ASPM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ASPM
genes like me logo Genes that share disorders with ASPM: view

No data available for Genatlas for ASPM Gene

Publications for ASPM Gene

  1. Sex-dependent association of common variants of microcephaly genes with brain structure. (PMID: 20080800) Rimol L.M. … Andreassen O.A. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 22 46 64
  2. A common SNP of MCPH1 is associated with cranial volume variation in Chinese population. (PMID: 18204051) Wang J.-K. … Su B. (Hum. Mol. Genet. 2008) 3 4 46 64
  3. No evidence that polymorphisms of brain regulator genes Microcephalin and ASPM are associated with general mental ability, head circumference or altruism. (PMID: 17251122) Rushton J.P. … Bons T.A. (Biol. Lett. 2007) 3 22 46 64
  4. The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. (PMID: 15972725) Kouprina N. … Larionov V. (Hum. Mol. Genet. 2005) 3 4 22 64
  5. Protein-truncating mutations in ASPM cause variable reduction in brain size. (PMID: 14574646) Bond J. … Woods C.G. (Am. J. Hum. Genet. 2003) 3 4 22 64

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