Spef1 sperm flagellar 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Spef1provided by MGI
Official Full Name: sperm flagellar 1provided by MGI
Primary source: MGI:MGI:3513546
See related: Ensembl:ENSMUSG00000027329 AllianceGenome:MGI:3513546
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: Clamp; 4931426K16Rik
Summary: Enables microtubule binding activity. Involved in axonemal central apparatus assembly; cilium movement; and negative regulation of microtubule depolymerization. Located in 9+2 motile cilium; axonemal central apparatus; and ciliary tip. Is expressed in several structures, including central nervous system; genitourinary system; gut; respiratory system; and sensory organ. Orthologous to human SPEF1 (sperm flagellar 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis adult (RPKM 16.6), ovary adult (RPKM 11.5) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 F1; 2 63.28 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (131012181..131016730, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (131170261..131174810, complement)

Chromosome 2 - NC_000068.8 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?

demonstrate a specific pattern of Spef1 localisation in the seminiferous epithelium of adult mouse testis
Title: Spef1, a conserved novel testis protein found in mouse sperm flagella.
a.k.a. Spef1 (sperm flagella) and CLAMP (CaLponin-homology And Microtubule associated Protein) CLAMP/Spef1 expression also in brain, lung, and inner ear MT association of CLAMP requires the CH domain, which has highest similarity with EB family proteins
Title: CLAMP, a novel microtubule-associated protein with EB-type calponin homology.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (2)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables actin binding	ISO Inferred from Sequence Orthology more info
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule binding	IDA Inferred from Direct Assay more info	PubMed
enables microtubule binding	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in axonemal central apparatus assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in cilium movement	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in filopodium assembly	ISO Inferred from Sequence Orthology more info
involved_in filopodium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in lamellipodium assembly	ISO Inferred from Sequence Orthology more info
involved_in lamellipodium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in microtubule bundle formation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of microtubule depolymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of Wnt signaling pathway, planar cell polarity pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in 9+2 motile cilium	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in axonemal central apparatus	IDA Inferred from Direct Assay more info	PubMed
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in axoneme	ISS Inferred from Sequence or Structural Similarity more info
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in basolateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in ciliary tip	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in filopodium	ISO Inferred from Sequence Orthology more info
located_in filopodium	ISS Inferred from Sequence or Structural Similarity more info
located_in lamellipodium	ISO Inferred from Sequence Orthology more info
located_in lamellipodium	ISS Inferred from Sequence or Structural Similarity more info
located_in microtubule	ISO Inferred from Sequence Orthology more info
located_in microtubule	ISS Inferred from Sequence or Structural Similarity more info
located_in microvillus	ISO Inferred from Sequence Orthology more info
located_in microvillus	ISS Inferred from Sequence or Structural Similarity more info
located_in motile cilium	IDA Inferred from Direct Assay more info	PubMed
located_in stress fiber	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: sperm flagellar protein 1

Names: calponin-homology and microtubule-associated protein

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.