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ASPM Gene(Protein Coding)

Abnormal Spindle Microtubule Assembly

GCID:
GC01M197053
GIFtS:
46
Genes Participants
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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 Microcephaly. Gene Ontology (GO) annotations related to this gene include binding and calmodulin binding.

UniProtKB/Swiss-Prot for ASPM Gene

  • Involved in mitotic spindle regulation and coordination of mitotic processes. The function in regulating microtubule dynamics at spindle poles including spindle orientation, astral microtubule density and poleward microtubule flux seems to depend on the association with the katanin complex formed by KATNA1 and KATNB1. Enhances the microtubule lattice severing activity of KATNA1 by recruiting the katanin complex to microtubules. Can block microtubule minus-end growth and reversely this function can be enhanced by the katanin complex (PubMed:28436967). May have a preferential role in regulating neurogenesis.

Gene Wiki entry for ASPM Gene

Additional gene information 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

GeneHancer (GH) Regulatory Elements for ASPM Gene

Promoters and enhancers for ASPM Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01I197144 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.6 589 3.3 PKNOX1 CLOCK ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B ZNF213 FOS ASPM CFHR3 ZBTB41 SEPT14P12 GC01P197135
GH01I197173 Enhancer 0.9 ENCODE 12.1 -27.5 -27538 1.7 FOXA2 MLX ARID4B DMAP1 YY1 RXRA MXD4 PPARG KAT8 NFIL3 ASPM CRB1 ZBTB41 CFHR3 GC01P197135
GH01I197178 Enhancer 0.7 ENCODE 12.1 -32.4 -32430 0.9 CTCF MEIS2 PKNOX1 NFATC3 BACH1 BATF RAD21 ZNF316 NCOR1 FOXK2 ASPM CRB1 ZBTB41 CFHR3 GC01P197135
GH01I197198 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 0.2 -53.6 -53607 4.6 SMAD1 ARNT ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 IRF4 YY1 ZBTB41 CRB1 GC01P197201 CFHR3 ASPM
GH01I197130 Enhancer 0.5 ENCODE 0.4 +15.6 15572 1.7 JUND GATA3 JUN CEBPB EP300 F13B CFHR3 GC01P197135 ASPM
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ASPM on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for ASPM Gene

Genomic Locations for ASPM Gene
chr1:197,084,127-197,146,694
(GRCh38/hg38)
Size:
62,568 bases
Orientation:
Minus strand
chr1:197,053,257-197,115,824
(GRCh37/hg19)

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:
    • Interacts with KATNA1 and KATNB1; katanin complex formation KATNA1:KATNB1 is required for the association.
    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 Lys177, posLast=13491349, posLast=15191519, posLast=15371537, posLast=18301830, Lys1843, posLast=18751875, Lys1903, posLast=20022002, Lys2053, Lys2171, posLast=23582358, posLast=30613061, Lys3169, Lys3404, and Lys3446

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

Gene Families for ASPM Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ASPM Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ASPM Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ASPM: view

No data available for 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

Molecular function for ASPM Gene

UniProtKB/Swiss-Prot Function:
Involved in mitotic spindle regulation and coordination of mitotic processes. The function in regulating microtubule dynamics at spindle poles including spindle orientation, astral microtubule density and poleward microtubule flux seems to depend on the association with the katanin complex formed by KATNA1 and KATNB1. Enhances the microtubule lattice severing activity of KATNA1 by recruiting the katanin complex to microtubules. Can block microtubule minus-end growth and reversely this function can be enhanced by the katanin complex (PubMed:28436967). May have a preferential role in regulating neurogenesis.

Phenotypes From GWAS Catalog for ASPM Gene

Gene Ontology (GO) - Molecular Function for ASPM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005516 calmodulin binding IEA --
GO:0019901 protein kinase 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

Clone 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 (PubMed:19690332). Associates with microtubule minus ends (By similarity). {ECO:0000250 UniProtKB:Q8CJ27}.

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
plasma membrane 4
cytosol 4
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

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:0005813 centrosome IEA --
GO:0005819 spindle IEA --
GO:0005856 cytoskeleton 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:0007283 spermatogenesis 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

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:

Clone 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 GTEx for ASPM GenemRNA expression by BioGPS 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
Regions:
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

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 33 34
  • 99.52 (n)
dog
(Canis familiaris)
 Mammalia ASPM 33 34
  • 86.29 (n)
cow
(Bos Taurus)
 Mammalia ASPM 33 34
  • 80.43 (n)
mouse
(Mus musculus)
 Mammalia Aspm 33 16 34
  • 74.57 (n)
rat
(Rattus norvegicus)
 Mammalia Aspm 33
  • 73.63 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ASPM 34
  • 65 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia ASPM 34
  • 61 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ASPM 33 34
  • 61.32 (n)
lizard
(Anolis carolinensis)
 Reptilia ASPM 34
  • 47 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia aspm 33
  • 54.75 (n)
Str.15458 33
African clawed frog
(Xenopus laevis)
 Amphibia Xl.7778 33
zebrafish
(Danio rerio)
 Actinopterygii aspm 33 34
  • 50.51 (n)
Dr.19463 33
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.12308 33
fruit fly
(Drosophila melanogaster)
 Insecta asp 34
  • 25 (a)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea aspm-1 34
  • 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 Variation AA Info Type
rs1057520873 pathogenic, not provided, Primary autosomal recessive microcephaly 5 197,104,888(-) C/A/G coding_sequence_variant, intron_variant, missense_variant, stop_gained
rs1060499757 likely-pathogenic, Microcephaly 197,101,677(-) TCTCT/TCT coding_sequence_variant, frameshift, intron_variant
rs1060499758 likely-pathogenic, Microcephaly 197,094,079(-) C/T intron_variant
rs10754213 conflicting-interpretations-of-pathogenicity, benign, not specified, Primary Microcephaly, Recessive 197,086,795(-) T/C intron_variant
rs10922162 benign, Primary autosomal recessive microcephaly 5, not specified, Primary Microcephaly, Recessive 197,101,646(-) C/T coding_sequence_variant, intron_variant, synonymous_variant

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

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

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)

Additional Variant Information 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

(5) MalaCards diseases for ASPM Gene - From: HGMD, OMIM, ClinVar, GTR, 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.

Additional Disease Information for ASPM

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 LM … Alzheimer's Disease Neuroimaging Initiative (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 22 44 58
  2. A common SNP of MCPH1 is associated with cranial volume variation in Chinese population. (PMID: 18204051) Wang JK … Su B (Human molecular genetics 2008) 3 4 44 58
  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 JP … Bons TA (Biology letters 2007) 3 22 44 58
  4. The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. (PMID: 15972725) Kouprina N … Larionov V (Human molecular genetics 2005) 3 4 22 58
  5. Protein-truncating mutations in ASPM cause variable reduction in brain size. (PMID: 14574646) Bond J … Woods CG (American journal of human genetics 2003) 3 4 22 58

Products for ASPM Gene

Sources for ASPM Gene

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