Cfap45 MGI Mouse Gene Detail - MGI:1919120 - cilia and flagella associated protein 45

Symbol

Cfap45
Name

cilia and flagella associated protein 45
Synonyms

1700028D05Rik, Ccdc19, Nesg1

Feature Type

protein coding gene
IDs

MGI:1919120
NCBI Gene: 71870
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr1:172348697-172373437 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 79.91 cM
Mapping Data

2 experiments

SNPs within 2kb

726 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1919120	protein coding gene	Chr1:172348368-172373437 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0016791	protein coding gene	Chr1:178393441-178419943 (+)
A/J	MGP_AJ_G0016770	protein coding gene	Chr1:171104900-171131551 (+)
AKR/J	MGP_AKRJ_G0016736	protein coding gene	Chr1:176262203-176288796 (+)
BALB/cJ	MGP_BALBcJ_G0016731	protein coding gene	Chr1:171637339-171662529 (+)
C3H/HeJ	MGP_C3HHeJ_G0016555	protein coding gene	Chr1:176836991-176862996 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017193	protein coding gene	Chr1:184318459-184343421 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014899	protein coding gene	Chr1:162791861-162817211 (+)
CAST/EiJ	MGP_CASTEiJ_G0016135	protein coding gene	Chr1:176206240-176232492 (+)
CBA/J	MGP_CBAJ_G0016529	protein coding gene	Chr1:190867209-190892041 (+)
DBA/2J	MGP_DBA2J_G0016636	protein coding gene	Chr1:170024918-170049744 (+)
FVB/NJ	MGP_FVBNJ_G0016633	protein coding gene	Chr1:168283080-168308469 (+)
LP/J	MGP_LPJ_G0016707	protein coding gene	Chr1:179475440-179500604 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016660	protein coding gene	Chr1:198097539-198122676 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017229	protein coding gene	Chr1:176136297-176163817 (+)
PWK/PhJ	MGP_PWKPhJ_G0015921	protein coding gene	Chr1:169407461-169432797 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0015703	protein coding gene	Chr1:175089248-175121528 (+)
WSB/EiJ	MGP_WSBEiJ_G0016197	protein coding gene	Chr1:176285951-176310866 (+)

Human Ortholog

CFAP45, cilia and flagella associated protein 45

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CFAP45, cilia and flagella associated protein 45
Synonyms

CCDC19, HTX11, NESG1
Links

HGNC:17229

NCBI Gene ID: 25790

neXtProt AC: NX_Q9UL16

UniProt: Q9UL16
Chr Location

1q23.2; chr1:159872364-159900165 (-) GRCh38

MGI Vertebrate Homology

Cfap45 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CFAP45
Gene Tree

Cfap45

Diseases

1 with human CFAP45 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

18 phenotypes from 1 allele in 1 genetic background
8 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

7
Chemically induced (other)

2
Endonuclease-mediated

3
Targeted

2
Genomic Mutations

2 involving Cfap45
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

34 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit left-right asymmetry abnormalities including situs inversus totalis and asthenospermia, due to dyskinetic beating of embryonic nodal cilia and sperm flagella, respectively.

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All GO Annotations

17
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

746
Tissues

6
cDNA Data

12
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cfap45

ZFIN cfap45

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All Sequences

50
RefSeq

4
UniProt

5
CCDS

CCDS48447.1

Ensembl

ENSMUSG00000026546 (Evidence)
NCBI Gene

71870

			Length	Strain/Species	Flank
genomic	71870	NCBI Gene Model \| MGI Sequence Detail	24741	C57BL/6J	± kb
transcript	NM_027972	RefSeq \| MGI Sequence Detail	1822	ZRU/MplStud
polypeptide	Q9D9U9	UniProt \| EBI \| MGI Sequence Detail	551	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000029325 cilia- and flagella-associated protein 45

(term hierarchy)
PDB

8I7R, 8IYJ, 8TO0
InterPro Domains

IPR033253 Cilia- and flagella-associated protein 45

IPR043597 Trichohyalin-plectin-homology domain

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All nucleic 14

Genomic 1

cDNA 12

Primer pair 1

Microarray probesets 2

Summaries

All 35

Developmental Gene Expression 3

Gene Ontology 9

Phenotypes 8
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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Cfap45:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr10237	Chr1:172348673-172348717 (+)	-2 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)
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