ASPM

protein-coding gene in the species Homo sapiens

ASPM is …
instance of (P31):
geneQ7187

sublass of (P279):
protein-coding geneQ20747295

External links are
P594Ensembl gene IDENSG00000066279
P704Ensembl transcript IDENST00000294732
ENST00000367408
ENST00000367409
ENST00000679766
ENST00000680112
ENST00000680265
ENST00000680710
ENST00000681879
P351Entrez Gene ID259266
P2888exact matchhttp://identifiers.org/ncbigene/259266
P353HGNC gene symbolASPM
P354HGNC ID19048
P593HomoloGene ID7650
P492OMIM ID605481
605481
P639RefSeq RNA IDNM_001206846
NM_018136
P2892UMLS CUIC1425978

P1057chromosomehuman chromosome 1Q430258
P4196cytogenetic location1q31.3
P688encodesAssembly factor for spindle microtubulesQ3122831
P5572expressed intesticleQ9384
embryoQ33196
gonadQ213456
bone marrowQ546523
ventricular zoneQ28455175
secondary oocyteQ66509944
buccal mucosa cellQ116529247
trabecular boneQ1759640
oocyteQ3246226
ganglionic eminenceQ4133185
P703found in taxonHomo sapiensQ15978631
P645genomic end197115824
197146694
P644genomic start197053258
197084121
P684orthologAspmQ24391924
aspmQ29766994
AspmQ14860488
P2548strand orientationreverse strandQ22809711

Reverse relations

regulates (molecular biology) (P128)
Q27593175hsa-let-7a-5p
Q27593105hsa-miR-192-5p
Q27593625hsa-miR-193b-3p
Q27592906hsa-miR-215-5p
Q27594593hsa-miR-218-5p

ortholog (P684)
Q14860488Aspm
Q24391924Aspm
Q29766994aspm

main subject (P921)
Q37618422A Novel Deletion Mutation in ASPM Gene in an Iranian Family with Autosomal Recessive Primary Microcephaly
Q55716593ASPM and mammalian brain evolution: a case study in the difficulty in making macroevolutionary inferences about gene-phenotype associations.
Q35006761ASPM and microcephalin expression in epithelial ovarian cancer correlates with tumour grade and survival
Q28727419ASPM and the evolution of cerebral cortical size in a community of New World monkeys
Q48095900ASPM gene expression in medulloblastoma.
Q39472818ASPM influences DNA double-strand break repair and represents a potential target for radiotherapy
Q29618492ASPM is a major determinant of cerebral cortical size
Q41938892ASPM is a novel marker for vascular invasion, early recurrence, and poor prognosis of hepatocellular carcinoma
Q96172103ASPM is a predictor of overall survival and has therapeutic potential in endometrial cancer
Q43073150ASPM mutations identified in patients with primary microcephaly and seizures
Q41103145ASPM regulates symmetric stem cell division by tuning Cyclin E ubiquitination
Q33634637ASPM-associated stem cell proliferation is involved in malignant progression of gliomas and constitutes an attractive therapeutic target
Q96346820ASPM-lexical tone association in speakers of a tone language: Direct evidence for the genetic-biasing hypothesis of language evolution
Q21092833Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion
Q41921587Adaptive evolution of ASPM, a major determinant of cerebral cortical size in humans
Q35127284Analysis of oncogenic signaling networks in glioblastoma identifies ASPM as a molecular target
Q33919820Angelman syndrome protein UBE3A interacts with primary microcephaly protein ASPM, localizes to centrosomes and regulates chromosome segregation
Q34078987Association between AVPR1A, DRD2, and ASPM and endophenotypes of communication disorders
Q47291136Autosomal recessive primary microcephaly due to ASPM mutations: An update
Q33997612Comment on "Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens" and "Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans".
Q22337065Comment on Papers by Evans et al. and Mekel-Bobrov et al. on Evidence for Positive Selection of MCPH1 and ASPM
Q39417018Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family
Q57151191Compound heterozygous ASPM mutations in Pakistani MCPH families
Q41934205Evolution of ASPM is associated with both increases and decreases in brain size in primates
Q24543963Evolution of the human ASPM gene, a major determinant of brain size
Q41920029Expression of IQ-motif genes in human cells and ASPM domain structure.
Q41921019Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations
Q24305282Human ASPM participates in spindle organisation, spindle orientation and cytokinesis
Q41918485Human microcephaly ASPM protein is a spindle pole-focusing factor that functions redundantly with CDK5RAP2.
Q50067390Identification of a Novel Nonsense ASPM Mutation in a Large Consanguineous Pakistani Family Using Targeted Next-Generation Sequencing
Q45959441Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations.
Q22337200Linguistic tone is related to the population frequency of the adaptive haplogroups of two brain size genes, ASPM and Microcephalin
Q22337113No evidence that polymorphisms of brain regulator genes Microcephalin and ASPM are associated with general mental ability, head circumference or altruism
Q92619940Normal early development in siblings with novel compound heterozygous variants in ASPM
Q22337142Normal variants of Microcephalin and ASPM do not account for brain size variability
Q34449464Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens.
Q64093755Overexpression of ASPM, CDC20, and TTK Confer a Poorer Prognosis in Breast Cancer Identified by Gene Co-expression Network Analysis
Q64950719Overexpression of the ASPM gene is associated with aggressiveness and poor outcome in bladder cancer.
Q41938854Positive selection in ASPM is correlated with cerebral cortex evolution across primates but not with whole-brain size
Q50949213Primary microcephaly with anterior predominant pachygyria caused by novel compound heterozygous mutations in ASPM.
Q41921770Protein-truncating mutations in ASPM cause variable reduction in brain size
Q22337331Recently-derived variants of brain-size genes ASPM, MCPH1, CDK5RAP and BRCA1 not associated with general cognition, reading or language
Q38440077Strong correlation between ASPM gene expression and HCV cirrhosis progression identified by co-expression analysis
Q48880490The Impact of rs3762271 and rs930557 Polymorphisms of ASPM and MCPH1 Genes on the Anatomy and Function of the Brain
Q40381206The abnormal spindle-like, microcephaly-associated (ASPM) gene encodes a centrosomal protein
Q30468366The derived allele of ASPM is associated with lexical tone perception
Q24306071The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein
Q22337141The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence
Q47773742The spread of alphabetical writing may have favored the latest variant of the ASPM gene.
Q47708439Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessive.

Q431643microcephalygenetic associationP2293
Q3122831Assembly factor for spindle microtubulesencoded byP702
Q101405093human gamma delta t cellhas markerP8872

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