SPEF1 sperm flagellar 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPEF1provided by HGNC
Official Full Name: sperm flagellar 1provided by HGNC
Primary source: HGNC:HGNC:15874
See related: Ensembl:ENSG00000101222 MIM:610674; AllianceGenome:HGNC:15874
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CLAMP; SPEF1A; C20orf28
Summary: Enables actin binding activity. Involved in filopodium assembly; lamellipodium assembly; and negative regulation of cell death. Located in several cellular components, including basolateral plasma membrane; lamellipodium; and microvillus. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in testis (RPKM 4.6), brain (RPKM 1.1) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20p13

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (3777504..3781448, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (3808445..3812388, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (3758151..3762095, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Spef1/CLAMP binds microtubules and actin-based structures and regulates cell migration and epithelia cell polarity.
Title: Spef1/CLAMP binds microtubules and actin-based structures and regulates cell migration and epithelia cell polarity.
Sperm flagellar 1 (also called CLAMP) is an actin-binding protein, rather than a microtubule-binding protein, in intestinal epithelial cells (IECs). CLAMP distribution changes during intestinal epithelial cell polarization, regulates the formation of filopodia, and appears to assist in the organization of actin bundles within lamellipodia of migrating IECs.
Title: Sperm Flagellar 1 Binds Actin in Intestinal Epithelial Cells and Contributes to Formation of Filopodia and Lamellipodia.
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.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH48567 (e-PCR)
- UniSTS:66609

MARC_16301-16302:1017419382:3 (e-PCR)
- UniSTS:267994

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IDA Inferred from Direct Assay more info	PubMed
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule binding	ISS Inferred from Sequence or Structural Similarity more info
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in axonemal central apparatus assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in cilium movement	ISS Inferred from Sequence or Structural Similarity more info
involved_in filopodium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lamellipodium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in microtubule bundle formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of microtubule depolymerization	ISS Inferred from Sequence or Structural Similarity more info
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	ISS Inferred from Sequence or Structural Similarity more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in axonemal central apparatus	ISS Inferred from Sequence or Structural Similarity more info
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	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary tip	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in filopodium	IDA Inferred from Direct Assay more info	PubMed
located_in lamellipodium	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in microvillus	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.