MCPH1 Microcephalin [Drosophila melanogaster (fruit fly)] - Gene

Summary

Official Symbol: MCPH1provided by FlyBase
Official Full Name: Microcephalinprovided by FlyBase
Primary source: FLYBASE:FBgn0260959
Locus tag: Dmel_CG42572
See related: AllianceGenome:FB:FBgn0260959
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Drosophila melanogaster
Lineage: Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
Also known as: awol; CG13184; CG30038; CG42572; CG8981; dMCPH1; Dmcph1; Dmel\CG42572; mcph1; p91
Old locus tag: Dmel_CG30038; Dmel_CG8981
Summary: Involved in mitotic cell cycle, embryonic; mushroom body development; and pole cell formation. Located in nucleus. Is expressed in several structures, including embryonic central brain neurons; gonad; larval brain; lateral cord neurons; and spermatozoon. Used to study microcephaly. Human ortholog(s) of this gene implicated in breast cancer; endometrial cancer; microcephaly; primary autosomal recessive microcephaly; and primary autosomal recessive microcephaly 1. Orthologous to human MCPH1 (microcephalin 1). [provided by Alliance of Genome Resources, Jan 2025]
Orthologs: all
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Genomic context

Location:: 48C5-48C5; 2-65 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
Release 6.54	current	Release 6 plus ISO1 MT (GCF_000001215.4)	2R	NT_033778.4 (11895997..11903918, complement)
Release 5.57	previous assembly	Release 5 (GCF_000001215.2)	2R	NT_033778.3 (7783502..7791423, complement)

Chromosome 2R - NT_033778.4 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

study reports that Drosophila MCPH1 is cyclically localised during the cell cycle, co-localising with DNA during interphase, but not with mitotic chromosomes
Title: Microcephalin coordinates mitosis in the syncytial Drosophila embryo.
model proposed in which MCPH1 coordinates the S-M transition in fly embryos: in the absence of mcph1, premature chromosome condensation results in mitotic entry with unreplicated DNA, genomic instability, and Chk2-mediated mitotic arrest
Title: The Drosophila homolog of MCPH1, a human microcephaly gene, is required for genomic stability in the early embryo.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

NCBI Orthologs

Orthologs from OrthoDB

Gene Ontology Provided by FlyBase

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic cell cycle, embryonic	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mushroom body development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pole cell formation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: microcephalin

Names: CG42572-PA; CG42572-PB; CG42572-PC; CG42572-PD; MCPH1-PA; MCPH1-PB; MCPH1-PC; MCPH1-PD; absent without leave

NCBI Reference Sequences (RefSeq)

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Genome Annotation

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

Reference assembly

Genomic

NT_033778.4 Reference assembly

Range

11895997..11903918 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001169652.2 → NP_001163123.1 microcephalin, isoform D [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001163123.1

Status: REVIEWED

UniProtKB/TrEMBL

E1JH39

Conserved Domains (2) summary

cd00027
Location:812 → 873

BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...

pfam12738
Location:187 → 251

PTCB-BRCT; twin BRCT domain
NM_001169651.2 → NP_001163122.1 microcephalin, isoform C [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001163122.1

Status: REVIEWED

UniProtKB/TrEMBL

A5YTR9

Conserved Domains (2) summary

cd00027
Location:765 → 826

BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...

pfam12738
Location:140 → 204

PTCB-BRCT; twin BRCT domain
NM_136867.3 → NP_610711.1 microcephalin, isoform B [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_610711.1

Status: REVIEWED

UniProtKB/TrEMBL

Q7JUM5

Related

FBpp0290644

Conserved Domains (1) summary

pfam12738
Location:187 → 251

PTCB-BRCT; twin BRCT domain
NM_165852.2 → NP_725088.1 microcephalin, isoform A [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_725088.1

Status: REVIEWED

UniProtKB/TrEMBL

A1Z8Q7

Related

FBpp0290643

Conserved Domains (1) summary

pfam12738
Location:140 → 204

PTCB-BRCT; twin BRCT domain