Cfap57 cilia and flagella associated protein 57 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cfap57provided by MGI
Official Full Name: cilia and flagella associated protein 57provided by MGI
Primary source: MGI:MGI:2686209
See related: Ensembl:ENSMUSG00000028730 AllianceGenome:MGI:2686209
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: Wdr65; Gm1363; 1110020C03Rik; C130004B06Rik
Summary: Acts upstream of or within axonemal dynein complex assembly; single fertilization; and sperm flagellum assembly. Is active in sperm flagellum. Is expressed in several structures, including genitourinary system; nasal epithelium; oral epithelium; skin; and upper jaw. Used to study male infertility. Human ortholog(s) of this gene implicated in spermatogenic failure 95. Orthologous to human CFAP57 (cilia and flagella associated protein 57). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in testis adult (RPKM 24.8) and lung adult (RPKM 0.9) See more
Orthologs: human all
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Genomic context

Location:: 4 D2.1; 4 54.84 cM

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (118411747..118477982, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (118554550..118620819, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data 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?

Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice.
Title: Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice.
1110020C03Rik 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.

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Variation

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Alleles

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

Endonuclease-mediated (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

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 axonemal dynein complex assembly	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 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

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in sperm flagellum	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: cilia- and flagella-associated protein 57

Names: WD repeat domain 65; WD repeat-containing protein 65

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_026789.5 → NP_081065.2 cilia- and flagella-associated protein 57

See identical proteins and their annotated locations for NP_081065.2

Status: VALIDATED

Source sequence(s)

AL669952, BX321881, BX842610

Consensus CDS

CCDS51286.1

UniProtKB/Swiss-Prot

A2ACY9, Q9D180

Related

ENSMUSP00000071863.5, ENSMUST00000071972.11

Conserved Domains (9) summary

TIGR01843
Location:1004 → 1249

type_I_hlyD; type I secretion membrane fusion protein, HlyD family

COG1340
Location:790 → 1080

COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]

COG2319
Location:71 → 576

WD40; WD40 repeat [General function prediction only]

pfam16046
Location:880 → 1027

FAM76; FAM76 protein

sd00039
Location:391 → 430

7WD40; WD40 repeat [structural motif]

cd16269
Location:829 → 840

GBP_C; coiled coil [structural motif]

cl02434
Location:202 → 329

CNH; CNH domain

cl02567
Location:387 → 665

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

cl20817
Location:728 → 854

GBP_C; Guanylate-binding protein, C-terminal domain

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_000070.7 Reference GRCm39 C57BL/6J

Range

118411747..118477982 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006503371.4 → XP_006503434.1 cilia- and flagella-associated protein 57 isoform X1

Conserved Domains (6) summary

TIGR01843
Location:933 → 1178

type_I_hlyD; type I secretion membrane fusion protein, HlyD family

COG1196
Location:712 → 1047

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

COG2319
Location:29 → 254

WD40; WD40 repeat [General function prediction only]

PRK04863
Location:621 → 789

mukB; chromosome partition protein MukB

sd00039
Location:340 → 386

7WD40; WD40 repeat [structural motif]

cl29593
Location:340 → 606

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_036164394.1 → XP_036020287.1 cilia- and flagella-associated protein 57 isoform X3

Conserved Domains (2) summary

COG1196
Location:141 → 409

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

PRK03918
Location:258 → 579

PRK03918; DNA double-strand break repair ATPase Rad50
XM_036164393.1 → XP_036020286.1 cilia- and flagella-associated protein 57 isoform X2

Conserved Domains (2) summary

COG1196
Location:170 → 505

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

NF033930
Location:63 → 243

pneumo_PspA; pneumococcal surface protein A