Spag6l sperm associated antigen 6-like [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Spag6lprovided by MGI
Official Full Name: sperm associated antigen 6-likeprovided by MGI
Primary source: MGI:MGI:1354388
See related: Ensembl:ENSMUSG00000022783 AllianceGenome:MGI:1354388
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: PF16; Spag6; Spag6l1
Summary: Enables microtubule binding activity. Acts upstream of or within several processes, including epithelial cilium movement involved in extracellular fluid movement; plasma membrane bounded cell projection organization; and stress fiber assembly. Located in several cellular components, including cytoskeleton; lateral wall of outer hair cell; and sperm principal piece. Orthologous to human SPAG6 (sperm associated antigen 6). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in testis adult (RPKM 53.7) and CNS E18 (RPKM 2.2) See more
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Genomic context

Location:: 16 A3; 16 10.39 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (16570880..16647177, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (16753016..16829363, complement)

Chromosome 16 - NC_000082.7 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
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?

This novel report demonstrates the requirement of Spag6l for optimal synapse formation and function.
Title: Impaired immunological synapse in sperm associated antigen 6 (SPAG6) deficient mice.
SPAG6 binds to prestin in vivo and contributes to fix prestin biomolecules in lateral plasma membrane of outer hair cells.
Title: Expression of prestin in OHCs is reduced in Spag6 gene knockout mice.
SPAG6 is a S-SOX5 target gene, indicating a key role for S-SOX5 in the formation and function of motile cilia.
Title: Transcriptional regulation of an axonemal central apparatus gene, sperm-associated antigen 6, by a SRY-related high mobility group transcription factor, S-SOX5.
Spag6 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.
Spag6 is essential for sperm flagellar motility and that it is important for the maintenance of the structural integrity of mature sperm. The occurrence of hydrocephalus in the mutant mice also implicates Spag6 in the motility of ependymal cilia.
Title: Male infertility, impaired sperm motility, and hydrocephalus in mice deficient in sperm-associated antigen 6.
Data describe the cloning of human and mouse Pf20 proteins that interact with Spag6 protein.
Title: A sperm-associated WD repeat protein orthologous to Chlamydomonas PF20 associates with Spag6, the mammalian orthologue of Chlamydomonas PF16.
Accelerated mortality from hydrocephalus and pneumonia in mice with combined deficiency of Spag6 and Spag16L reveals a functional interrelationship between the two central apparatus proteins.
Title: Accelerated mortality from hydrocephalus and pneumonia in mice with a combined deficiency of SPAG6 and SPAG16L reveals a functional interrelationship between the two central apparatus proteins.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Targeted (1) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Spag6 (e-PCR), detects polymorphism
- UniSTS:158763

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell division	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell projection organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cerebrospinal fluid circulation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cerebrospinal fluid circulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ear development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epithelial cilium movement involved in extracellular fluid movement	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within epithelial cilium movement involved in extracellular fluid movement	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of epithelial cell apical/basal polarity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of localization in cell	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within fibroblast migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in filopodium assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within filopodium assembly	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 motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mucociliary clearance	IGI Inferred from Genetic Interaction more info	PubMed
involved_in neuron projection extension	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within neuron projection extension	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within non-motile cilium 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 regulation of cilium beat frequency	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of establishment of planar polarity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sperm axoneme assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sperm axoneme assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within stress fiber assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within substrate-dependent cell migration, cell attachment to substrate	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of ventricular system development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in acrosomal vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in acrosomal vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in axonemal central apparatus	IGI Inferred from Genetic Interaction more info	PubMed
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in axoneme	IDA Inferred from Direct Assay more info	PubMed
located_in axoneme	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cilium	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in lateral wall of outer hair cell	IDA Inferred from Direct Assay more info	PubMed
located_in manchette	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule	IEA Inferred from Electronic Annotation more info
is_active_in microtubule cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in microtubule cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in motile cilium	IEA Inferred from Electronic Annotation more info
is_active_in sperm principal piece	IBA Inferred from Biological aspect of Ancestor more info
located_in sperm principal piece	IDA Inferred from Direct Assay more info	PubMed
located_in sperm principal piece	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: sperm-associated antigen 6

Names: axoneme central apparatus protein; axoneme protein; protein PF16 homolog

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_001427324.1 → NP_001414253.1 sperm-associated antigen 6 isoform 2

Status: VALIDATED

Source sequence(s)

AC165958, AC169508
NM_015773.3 → NP_056588.1 sperm-associated antigen 6 isoform 1

See identical proteins and their annotated locations for NP_056588.1

Status: VALIDATED

Source sequence(s)

AC165958, AC169508

Consensus CDS

CCDS27988.1

UniProtKB/Swiss-Prot

Q8K461, Q9JLI7

UniProtKB/TrEMBL

Q497N2

Related

ENSMUSP00000023468.6, ENSMUST00000023468.6

Conserved Domains (3) summary

COG5064
Location:112 → 423

SRP1; Karyopherin (importin) alpha [Intracellular trafficking and secretion]

sd00044
Location:85 → 109

HEAT; HEAT repeat [structural motif]

sd00043
Location:120 → 152

ARM; armadillo repeat [structural motif]