aspm assembly factor for spindle microtubules [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: aspmprovided by ZNC
Official Full Name: assembly factor for spindle microtubulesprovided by ZNC
Primary source: ZFIN:ZDB-GENE-050208-620
See related: Ensembl:ENSDARG00000103754 AllianceGenome:ZFIN:ZDB-GENE-050208-620
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: fc13b04; wu:fc13b04; si:dkey-114d20.4
Summary: Predicted to enable calmodulin binding activity. Acts upstream of or within mitotic cell cycle. Predicted to be located in cytoplasm and nucleus. Predicted to be active in spindle pole. Is expressed in digestive system; nervous system; optic cup; otic vesicle; and pectoral fin bud. Used to study microcephaly. Human ortholog(s) of this gene implicated in microcephaly; primary autosomal recessive microcephaly; primary autosomal recessive microcephaly 5; and visual epilepsy. Orthologous to human ASPM (assembly factor for spindle microtubules). [provided by Alliance of Genome Resources, Oct 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 22

Exon count:: 30

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	22	NC_007133.7 (23546918..23582608)
105	previous assembly	GRCz10 (GCF_000002035.5)	22	NC_007133.6 (23520337..23556044)

Chromosome 22 - NC_007133.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These findings suggest that the reduction in brain size in microcephaly might be caused by lack of aspm function in the mitotic cell cycle and demonstrate that the zebrafish can provide a model system for congenital diseases of the human nervous system.
Title: The microcephaly gene aspm is involved in brain development in zebrafish.

Submit: New GeneRIF Correction

General gene information

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Markers

Ndufb11 (e-PCR), detects polymorphism
- UniSTS:498527

fc13b04.x1 (e-PCR)
- UniSTS:192612

fc13b04.x1 (e-PCR)
- UniSTS:192613

fc48d06.y1 (e-PCR)
- UniSTS:193983

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables calmodulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables calmodulin binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell division	IEA Inferred from Electronic Annotation more info
involved_in establishment of meiotic spindle localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spindle organization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
is_active_in spindle pole	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: abnormal spindle-like microcephaly-associated protein

Names: abnormal spindle microtubule assembly; abnormal spindles; asp (abnormal spindle) homolog, microcephaly associated; asp (abnormal spindle)-like, microcephaly associated

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001123373.1 → NP_001116845.1 abnormal spindle-like microcephaly-associated protein

Status: PROVISIONAL

Source sequence(s)

CR388178

UniProtKB/TrEMBL

A0A0R4INR1, A0A8M1NIN5

Related

ENSDARP00000135909.1, ENSDART00000157940.2

Conserved Domains (3) summary

smart00033
Location:945 → 1033

CH; Calponin homology domain

pfam00307
Location:1093 → 1232

CH; Calponin homology (CH) domain

pfam15780
Location:35 → 132

ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCz11 Primary Assembly

Genomic

NC_007133.7 Reference GRCz11 Primary Assembly

Range

23546918..23582608

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005161737.3 → XP_005161794.1 abnormal spindle-like microcephaly-associated protein isoform X1

UniProtKB/TrEMBL

A0A8M2B8W4

Conserved Domains (3) summary

smart00033
Location:965 → 1053

CH; Calponin homology domain

pfam00307
Location:1113 → 1252

CH; Calponin homology (CH) domain

pfam15780
Location:35 → 132

ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin