Cfap53 MGI Mouse Gene Detail - MGI:1921703 - cilia and flagella associated protein 53

Symbol

Cfap53
Name

cilia and flagella associated protein 53
Synonyms

4933415I03Rik, Ccdc11

Feature Type

protein coding gene
IDs

MGI:1921703
NCBI Gene: 74453
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr18:74416171-74493055 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 18, 50.70 cM, cytoband E2
Mapping Data

2 experiments

SNPs within 2kb

2469 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1921703	protein coding gene	Chr18:74416161-74493057 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0024557	protein coding gene	Chr18:74901442-74982542 (+)
A/J	MGP_AJ_G0024524	protein coding gene	Chr18:71642136-71723310 (+)
AKR/J	MGP_AKRJ_G0024495	protein coding gene	Chr18:73759138-73835658 (+)
BALB/cJ	MGP_BALBcJ_G0024524	protein coding gene	Chr18:71822373-71908075 (+)
C3H/HeJ	MGP_C3HHeJ_G0024292	protein coding gene	Chr18:73852757-73944090 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0024970	protein coding gene	Chr18:76868978-76949141 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022400	protein coding gene	Chr18:70717551-70800994 (+)
CAST/EiJ	MGP_CASTEiJ_G0023765	protein coding gene	Chr18:74027935-74111559 (+)
CBA/J	MGP_CBAJ_G0024261	protein coding gene	Chr18:79494471-79585461 (+)
DBA/2J	MGP_DBA2J_G0024391	protein coding gene	Chr18:71245084-71325379 (+)
FVB/NJ	MGP_FVBNJ_G0024357	protein coding gene	Chr18:70584669-70662170 (+)
LP/J	MGP_LPJ_G0024475	protein coding gene	Chr18:74769719-74866669 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024387	protein coding gene	Chr18:80950352-81050115 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025018	protein coding gene	Chr18:73892801-73982148 (+)
PWK/PhJ	MGP_PWKPhJ_G0023509	protein coding gene	Chr18:71598957-71687685 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023313	protein coding gene	Chr18:74044628-74121402 (+)
WSB/EiJ	MGP_WSBEiJ_G0023828	protein coding gene	Chr18:73845063-73927811 (+)

Human Ortholog

CFAP53, cilia and flagella associated protein 53

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CFAP53, cilia and flagella associated protein 53
Synonyms

CCDC11, HTX6
Links

HGNC:26530

NCBI Gene ID: 220136

neXtProt AC: NX_Q96M91

UniProt: Q96M91
Chr Location

18q21.1; chr18:50227193-50266495 (-) GRCh38

MGI Vertebrate Homology

Cfap53 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CFAP53
Gene Tree

Cfap53

Diseases

1 with human CFAP53 associations

				Human Disease	Mouse Models
				visceral heterotaxy IDs visceral heterotaxy DOID:0050545 OMIM:306955 OMIM:605376 OMIM:606325 OMIM:613751 OMIM:614779 OMIM:PS306955 ORDO:450

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

60 phenotypes from 2 alleles in 2 genetic backgrounds
14 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

5
Targeted

5
Transposon induced

1
Genomic Mutations

1 involving Cfap53
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

57 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous knock-out affects node cilia and results in abnormal placental labyrinth vasculature morphology, placental hemorrhage and necrosis, and partial preweaning lethality. Mice homozygous for a different null allele exhibit impaired survival, situs inversus, hydrocephaly, and male infertility with oligozoospermia and abnormal head and flagellum morphology.

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All GO Annotations

39
GO References

9

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.

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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

12
Literature Summary

2

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cfap53

ZFIN cfap53

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All Sequences

43
RefSeq

5
UniProt

4
CCDS

CCDS37857.2

Ensembl

ENSMUSG00000035394 (Evidence)
NCBI Gene

74453

			Length	Strain/Species	Flank
genomic	74453	NCBI Gene Model \| MGI Sequence Detail	76885	C57BL/6J	± kb
transcript	NR_029424	RefSeq \| MGI Sequence Detail	2108	C57BL/6
polypeptide	Q9D439	UniProt \| EBI \| MGI Sequence Detail	514	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000031884 cilia- and flagella-associated protein 53

(term hierarchy)
PDB

8I7R, 8IYJ, 8TO0
InterPro Domains

IPR043596 CFAP53/TCHP

IPR043597 Trichohyalin-plectin-homology domain

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All nucleic 12

cDNA 12

Microarray probesets 2

Summaries

All 44

Developmental Gene Expression 2

Gene Ontology 9

Phenotypes 14
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:353048 Lu H, et al., Localisation and function of key axonemal microtubule inner proteins and dynein docking complex members reveal extensive diversity among vertebrate motile cilia. Development. 2024 Jul 15;151(14):dev202737

TSS for Cfap53:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr151909	Chr18:74416169-74416202 (+)	15 bp
Tssr151910	Chr18:74416208-74416224 (+)	45 bp
Tssr151911	Chr18:74416225-74416244 (+)	64 bp
Tssr151912	Chr18:74421450-74421465 (+)	5,287 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