Cep43 MGI Mouse Gene Detail - MGI:1922546

Symbol

Cep43
Name

centrosomal protein 43
Synonyms

4930553O10Rik, Fgfr1op, Fop

Feature Type

protein coding gene
IDs

MGI:1922546
NCBI Gene: 75296
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr17:8384333-8415636 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 4.88 cM
Mapping Data

2 experiments

SNPs within 2kb

746 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1922546	protein coding gene	Chr17:8383976-8415636 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0023129	protein coding gene	Chr17:5634964-5666097 (+)
A/J	MGP_AJ_G0023097	protein coding gene	Chr17:5667556-5699606 (+)
AKR/J	MGP_AKRJ_G0023062	protein coding gene	Chr17:5326314-5357428 (+)
BALB/cJ	MGP_BALBcJ_G0023097	protein coding gene	Chr17:5475459-5503314 (+)
C3H/HeJ	MGP_C3HHeJ_G0022860	protein coding gene	Chr17:5610921-5639180 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0023541	protein coding gene	Chr17:5900865-5933990 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021067	protein coding gene	Chr17:8657719-8689335 (-)
CAST/EiJ	MGP_CASTEiJ_G0022371	protein coding gene	Chr17:5346772-5619579 (+)
CBA/J	MGP_CBAJ_G0022832	protein coding gene	Chr17:6106106-6139624 (+)
DBA/2J	MGP_DBA2J_G0022965	protein coding gene	Chr17:5342692-5370691 (+)
FVB/NJ	MGP_FVBNJ_G0022934	protein coding gene	Chr17:5259896-5291018 (+)
LP/J	MGP_LPJ_G0023036	protein coding gene	Chr17:5449297-5476697 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022955	protein coding gene	Chr17:5853071-5885552 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023566	protein coding gene	Chr17:5614090-5645093 (+)
PWK/PhJ	MGP_PWKPhJ_G0022123	protein coding gene	Chr17:4958368-4990338 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0021952	protein coding gene	Chr17:4876453-4907878 (+)
WSB/EiJ	MGP_WSBEiJ_G0022431	protein coding gene	Chr17:5691016-5942644 (+)

Human Ortholog

CEP43, centrosomal protein 43

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CEP43, centrosomal protein 43
Synonyms

FGFR1OP, FOP
Links

HGNC:17012

NCBI Gene ID: 11116

neXtProt AC: NX_O95684

UniProt: O95684
Chr Location

6q27; chr6:166999174-167052718 (+) GRCh38

MGI Vertebrate Homology

Cep43 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CEP43
Gene Tree

Cep43

less

References

6 with disease annotations

less

Phenotype Summary

8 phenotypes from 1 allele in 1 genetic background
361 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

11
Endonuclease-mediated

4
Gene trapped

3
Radiation induced

1
Targeted

3
Genomic Mutations

1 involving Cep43
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

16 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

less

All GO Annotations

25
GO References

6

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

less

Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

723
Tissues

9
cDNA Data

67
Literature Summary

6

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cep43

less

All Sequences

56
RefSeq

13
UniProt

2
CCDS

CCDS28380.1, CCDS57045.1

Ensembl

ENSMUSG00000069135 (Evidence)
NCBI Gene

75296

			Length	Strain/Species	Flank
genomic	ENSMUSG00000069135	Ensembl Gene Model \| MGI Sequence Detail	31304	C57BL/6J	± kb
transcript	ENSMUST00000097419	Ensembl \| MGI Sequence Detail	3505	Not Applicable
polypeptide	ENSMUSP00000095030	Ensembl \| MGI Sequence Detail	399	Not Applicable

less

UniProt

2 Sequences
Protein Ontology

PR:000007504 centrosomal protein 43

(term hierarchy)
InterPro Domains

IPR018993 FGFR1 oncogene partner (FOP), N-terminal dimerisation domain

IPR006594 LIS1 homology motif

less

All nucleic 68

cDNA 68

Microarray probesets 4

less

MGI:6391262

Summaries

All 392

Developmental Gene Expression 6

Diseases 6

Gene Ontology 6

Phenotypes 361
Earliest

J:30229 Davisson MT, et al., Segmental trisomy as a mouse model for Down syndrome. Prog Clin Biol Res. 1993;384:117-33
Latest

J:354984 Emili M, et al., Reversal of neurodevelopmental impairment and cognitive enhancement by pharmacological intervention with the polyphenol polydatin in a Down syndrome model. Neuropharmacology. 2024 Sep 27;261:110170

TSS for Cep43:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr142513	Chr17:8384390-8384425 (+)	75 bp
Tssr142514	Chr17:8384749-8384754 (+)	419 bp
Tssr142515	Chr17:8414780-8414789 (+)	30,452 bp
Tssr142516	Chr17:8414796-8414808 (+)	30,469 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24