Mcph1 microcephalin 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Mcph1provided by RGD
Official Full Name: microcephalin 1provided by RGD
Primary source: RGD:1560642
See related: Ensembl:ENSRNOG00000028586 AllianceGenome:RGD:1560642
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: RGD1560642
Summary: Predicted to enable identical protein binding activity. Predicted to be involved in mitotic cell cycle and negative regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including establishment of mitotic spindle orientation; neuronal stem cell population maintenance; and protein localization to centrosome. Predicted to be located in microtubule organizing center. 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, Apr 2022]
Expression: Biased expression in Thymus (RPKM 39.1), Spleen (RPKM 34.9) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 16q12.5

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	16	NC_086034.1 (77724251..77926773, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	16	NC_051351.1 (71021855..71224067, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	16	NC_005115.4 (75904087..76110624, complement)

Chromosome 16 - NC_086034.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

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General gene information

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Markers

D16Rat16 (e-PCR)
- UniSTS:119311

RH141778 (e-PCR)
- UniSTS:223771

AU048376 (e-PCR)
- UniSTS:109596

RH129360 (e-PCR)
- UniSTS:212667

RH142622 (e-PCR)
- UniSTS:231869

RH129137 (e-PCR)
- UniSTS:212445

Mcph1 (e-PCR), detects polymorphism
- UniSTS:548070

Mcph1 (e-PCR), detects polymorphism
- UniSTS:548071

BF405139 (e-PCR)
- UniSTS:247799

BF399189 (e-PCR)
- UniSTS:247551

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables identical protein binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
acts_upstream_of_or_within bone development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cerebral cortex development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within establishment of mitotic spindle orientation	ISO Inferred from Sequence Orthology more info
involved_in mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuronal stem cell population maintenance	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein localization to centrosome	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of centrosome cycle	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of chromosome condensation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of gene expression	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of inflammatory response	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in centrosome	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: microcephalin

Names: microcephaly, primary autosomal recessive 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.

mRNA and Protein(s)

NM_001427088.1 → NP_001414017.1 microcephalin

Status: VALIDATED

Source sequence(s)

JAXUCZ010000016

UniProtKB/TrEMBL

D3ZJM7

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086034.1 Reference GRCr8

Range

77724251..77926773 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006253383.5 → XP_006253445.1 microcephalin isoform X1

UniProtKB/TrEMBL

D3ZJM7

Conserved Domains (4) summary

cd00027
Location:629 → 691

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 ...

pfam12258
Location:246 → 585

Microcephalin; Microcephalin protein

pfam12738
Location:35 → 101

PTCB-BRCT; twin BRCT domain

cl00038
Location:741 → 805

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 ...
XM_063275460.1 → XP_063131530.1 microcephalin isoform X3

UniProtKB/TrEMBL

D3ZJM7
XM_006253385.5 → XP_006253447.1 microcephalin isoform X2

UniProtKB/TrEMBL

D3ZJM7

Conserved Domains (3) summary

cd00027
Location:597 → 659

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 ...

pfam12258
Location:186 → 548

Microcephalin; Microcephalin protein

cl00038
Location:1 → 41

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 ...