Cfap70 cilia and flagella associated protein 70 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cfap70provided by MGI
Official Full Name: cilia and flagella associated protein 70provided by MGI
Primary source: MGI:MGI:1923920
See related: Ensembl:ENSMUSG00000039543 AllianceGenome:MGI:1923920
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ttc18
Summary: Involved in cilium assembly and cilium movement. Acts upstream of or within several processes, including maintenance of cell number; single fertilization; and spermatid development. Located in axoneme and sperm flagellum. Is active in cytoplasm and manchette. Is expressed in lateral ventricle choroid plexus; metencephalon part of 4th ventricle choroid plexus; and olfactory epithelium. Used to study oligoasthenoteratozoospermia. Human ortholog(s) of this gene implicated in spermatogenic failure 41. Orthologous to human CFAP70 (cilia and flagella associated protein 70). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in testis adult (RPKM 20.3) and lung adult (RPKM 0.5) See more
Orthologs: human all
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Genomic context

Location:: 14 A3; 14 11.53 cM

Exon count:: 32

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (20444258..20502332, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (20394190..20452264, complement)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ttc18 is most abundantly expressed in tissues rich in highly ciliated cells, such as olfactory sensory neurons, and is predicted to be important to cilia.
Title: Tissue expression patterns identify mouse cilia genes.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium movement	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium movement	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cilium organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within flagellated sperm motility	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within homeostasis of number of cells	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within maintenance of cell number	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within manchette assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein-containing complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within single fertilization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sperm flagellum assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sperm motility	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in axoneme	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in manchette	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in motile cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in motile cilium	IDA Inferred from Direct Assay more info	PubMed
part_of outer dynein arm	ISO Inferred from Sequence Orthology more info
part_of outer dynein arm	ISS Inferred from Sequence or Structural Similarity more info
located_in sperm flagellum	IDA Inferred from Direct Assay more info	PubMed
located_in sperm flagellum	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: cilia- and flagella-associated protein 70

Names: TPR repeat protein 18; tetratricopeptide repeat domain 18; tetratricopeptide repeat protein 18

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_001163638.1 → NP_001157110.1 cilia- and flagella-associated protein 70 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.

Source sequence(s)

AC121801

Consensus CDS

CCDS49411.1

UniProtKB/TrEMBL

E9Q7X8

Related

ENSMUSP00000022349.7, ENSMUST00000022349.14

Conserved Domains (2) summary

sd00006
Location:1005 → 1031

TPR; TPR repeat [structural motif]

pfam13414
Location:1037 → 1099

TPR_11; TPR repeat
NM_001163639.1 → NP_001157111.1 cilia- and flagella-associated protein 70 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks two in-frame exons and contains an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.

Source sequence(s)

AC121801

Consensus CDS

CCDS49412.1

UniProtKB/TrEMBL

D3Z1K9

Related

ENSMUSP00000022348.8, ENSMUST00000022348.15

Conserved Domains (2) summary

sd00006
Location:978 → 1004

TPR; TPR repeat [structural motif]

pfam13414
Location:1010 → 1072

TPR_11; TPR repeat
NM_029698.1 → NP_083974.1 cilia- and flagella-associated protein 70 isoform 3

See identical proteins and their annotated locations for NP_083974.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks one in-frame exon and contains an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (3) is longer, compared to isoform 1.

Source sequence(s)

AC121801

Consensus CDS

CCDS49413.1

UniProtKB/Swiss-Prot

B7ZNG2, B7ZNG3, D3YVL2, D3Z1K9, E9Q7X8

Related

ENSMUSP00000056869.7, ENSMUST00000056073.14

Conserved Domains (3) summary

COG0457
Location:950 → 1117

TPR; Tetratricopeptide (TPR) repeat [General function prediction only]

TIGR02917
Location:702 → 1124

PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein

sd00006
Location:1022 → 1048

TPR; TPR repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000080.7 Reference GRCm39 C57BL/6J

Range

20444258..20502332 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006519684.1 → XP_006519747.1 cilia- and flagella-associated protein 70 isoform X1

Conserved Domains (2) summary

TIGR02917
Location:647 → 1011

PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein

sd00006
Location:669 → 696

TPR; TPR repeat [structural motif]
XM_036158900.1 → XP_036014793.1 cilia- and flagella-associated protein 70 isoform X2

Conserved Domains (2) summary

COG0457
Location:635 → 767

TPR; Tetratricopeptide (TPR) repeat [General function prediction only]

sd00006
Location:669 → 696

TPR; TPR repeat [structural motif]