MZT1 mitotic spindle organizing protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MZT1provided by HGNC
Official Full Name: mitotic spindle organizing protein 1provided by HGNC
Primary source: HGNC:HGNC:33830
See related: Ensembl:ENSG00000204899 MIM:613448; AllianceGenome:HGNC:33830
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MOZART1; C13orf37
Summary: Involved in gamma-tubulin complex localization. Located in centrosome and spindle. Part of gamma-tubulin large complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in brain (RPKM 11.3), bone marrow (RPKM 9.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q21.33

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (72708367..72727629, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (71929913..71949154, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (73282505..73301767, complement)

Chromosome 13 - NC_000013.11 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MZT Proteins Form Multi-Faceted Structural Modules in the gamma-Tubulin Ring Complex.
Title: MZT Proteins Form Multi-Faceted Structural Modules in the γ-Tubulin Ring Complex.
NMR secondary structure and interactions of recombinant human MOZART1 protein with its binding partner, GCP3, has been presented.
Title: NMR secondary structure and interactions of recombinant human MOZART1 protein, a component of the gamma-tubulin complex.
MZT1 is a 'priming factor' for gamma-tubulin ring complex that allows spatial regulation of nucleation.
Title: MZT1 regulates microtubule nucleation by linking γTuRC assembly to adapter-mediated targeting and activation.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of obsessive-compulsive disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

32i18REV (e-PCR)
- UniSTS:240695

RH98346 (e-PCR)
- UniSTS:84425

D13S829E (e-PCR)
- UniSTS:151506

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in gamma-tubulin complex localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in microtubule nucleation by interphase microtubule organizing center	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic spindle assembly	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
part_of gamma-tubulin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of gamma-tubulin ring complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in interphase microtubule organizing center	IBA Inferred from Biological aspect of Ancestor more info
is_active_in spindle	IBA Inferred from Biological aspect of Ancestor more info
located_in spindle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: mitotic-spindle organizing protein 1

Names: mitotic-spindle organizing protein associated with a ring of gamma-tubulin 1

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.