Cfap54 MGI Mouse Gene Detail - MGI:1922208 - cilia and flagella associated protein 54

Symbol

Cfap54
Name

cilia and flagella associated protein 54
Synonyms

4930485B16Rik, Gm872, LOC380653

Feature Type

protein coding gene
IDs

MGI:1922208
NCBI Gene: 380654
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr10:92611481-92917480 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 47.44 cM
Mapping Data

2 experiments

SNPs within 2kb

2655 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1922208	protein coding gene	Chr10:92611471-92919085 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0017647	protein coding gene	Chr10:94147262-94456198 (-)
A/J	MGP_AJ_G0017626	protein coding gene	Chr10:90890425-91181001 (-)
AKR/J	MGP_AKRJ_G0017584	protein coding gene	Chr10:93477398-93781134 (-)
BALB/cJ	MGP_BALBcJ_G0017589	protein coding gene	Chr10:91156674-91452022 (-)
C3H/HeJ	MGP_C3HHeJ_G0017412	protein coding gene	Chr10:93487874-93793826 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0018046	protein coding gene	Chr10:97239215-97559027 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015728	protein coding gene	Chr10:86525628-86810003 (-)
CAST/EiJ	MGP_CASTEiJ_G0016977	protein coding gene	Chr10:93443957-93746083 (-)
CBA/J	MGP_CBAJ_G0017381	protein coding gene	Chr10:101274894-101612062 (-)
DBA/2J	MGP_DBA2J_G0017487	protein coding gene	Chr10:89984217-90287371 (-)
FVB/NJ	MGP_FVBNJ_G0017479	protein coding gene	Chr10:89211324-89500913 (-)
LP/J	MGP_LPJ_G0017561	protein coding gene	Chr10:94766747-95077141 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017510	protein coding gene	Chr10:102641285-102964031 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018083	protein coding gene	Chr10:93385379-93679668 (-)
PWK/PhJ	MGP_PWKPhJ_G0016758	protein coding gene	Chr10:90059527-90359701 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0016546	protein coding gene	Chr10:92174268-92480397 (-)
WSB/EiJ	MGP_WSBEiJ_G0017036	protein coding gene	Chr10:93343640-93656565 (-)

Human Ortholog

CFAP54, cilia and flagella associated protein 54

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CFAP54, cilia and flagella associated protein 54
Synonyms

C12orf55, C12orf63
Links

HGNC:26456

NCBI Gene ID: 144535

neXtProt AC: NX_Q96N23

UniProt: Q96N23
Chr Location

12q23.1; chr12:96489571-96875555 (+) GRCh38

Alliance of Genome Resources

Cfap54 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CFAP54
Gene Tree

Cfap54

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Phenotype Summary

22 phenotypes from 1 allele in 3 genetic backgrounds
13 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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

5
Chemically induced (other)

1
Gene trapped

1
Targeted

2
Transposon induced

1
Genomic Mutations

2 involving Cfap54
Incidental Mutations

Mutagenetix , APF , APF
Find Mice (IMSR)

11 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous inactivation of this gene causes background-dependent lethality and hydroencephaly, male sterility associated with defects in spermiogenesis, and impaired mucociliary clearance. Airway epithelial cilia show structural defects and a decrease in ciliary beat frequency and cilia-driven flow.

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All GO Annotations

19
GO References

4

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	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development	DNA-templated transcription

Cellular Component

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

Click cells to view annotations.

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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

706
cDNA Data

8

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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Cfap54 interacts with 214 markers (Mir10a, Mir16-1, Mir17, ...) View All

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All Sequences

78
RefSeq

18
UniProt

10
CCDS

CCDS88073.1

Ensembl

ENSMUSG00000020014 (Evidence)
NCBI Gene

380654

			Length	Strain/Species	Flank
genomic	ENSMUSG00000020014	Ensembl Gene Model \| MGI Sequence Detail	306000	C57BL/6J	± kb
transcript	ENSMUST00000212902	Ensembl \| MGI Sequence Detail	9516	Not Applicable
polypeptide	ENSMUSP00000148636	Ensembl \| MGI Sequence Detail	3171	Not Applicable

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UniProt

10 Sequences
Protein Ontology

PR:000060028 cilia- and flagella-associated protein 54

(term hierarchy)
InterPro Domains

IPR027912 Cilia- and flagella-associated protein 54

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All nucleic 8

cDNA 8

Microarray probesets 2

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MGI:2685718

Summaries

All 33

Gene Ontology 4

Phenotypes 13
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:307547 Miyata H, et al., Analysis of the sperm flagellar axoneme using gene-modified mice. Exp Anim. 2020 Nov 12;69(4):374-381

TSS for Cfap54:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr98948	Chr10:92919228-92919233 (-)	-1,751 bp
Tssr98947	Chr10:92917459-92917506 (-)	-3 bp
Tssr98946	Chr10:92917366-92917386 (-)	104 bp
Tssr98945	Chr10:92877879-92877910 (-)	39,585 bp
Tssr98944	Chr10:92861019-92861028 (-)	56,456 bp
Tssr98943	Chr10:92773869-92773880 (-)	143,605 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 11/28/2023 MGI 6.22