Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SPEF1 Gene

Aliases for SPEF1 Gene

  • Sperm Flagellar 1 2 3 5
  • C20orf28 3 4
  • Calponin-Homology And Microtubule-Associated Protein 3
  • Chromosome 20 Open Reading Frame 28 2
  • SPEF1A 3
  • CLAMP 3

External Ids for SPEF1 Gene

Previous HGNC Symbols for SPEF1 Gene

  • C20orf28

Previous GeneCards Identifiers for SPEF1 Gene

  • GC20M003707

Summaries for SPEF1 Gene

GeneCards Summary for SPEF1 Gene

SPEF1 (Sperm Flagellar 1) is a Protein Coding gene. Diseases associated with SPEF1 include Pulsating Exophthalmos and Buruli Ulcer.

Gene Wiki entry for SPEF1 Gene

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPEF1 Gene

Genomics for SPEF1 Gene

Regulatory Elements for SPEF1 Gene

Enhancers for SPEF1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SPEF1 on UCSC Golden Path with GeneCards custom track

Promoters for SPEF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SPEF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SPEF1 Gene

3,777,504 bp from pter
3,781,466 bp from pter
3,963 bases
Minus strand

Genomic View for SPEF1 Gene

Genes around SPEF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPEF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPEF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPEF1 Gene

Proteins for SPEF1 Gene

  • Protein details for SPEF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Sperm flagellar protein 1
    Protein Accession:
    Secondary Accessions:
    • A5YM71
    • D3DVY0
    • Q5JX78

    Protein attributes for SPEF1 Gene

    236 amino acids
    Molecular mass:
    26987 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for SPEF1 Gene

    Alternative splice isoforms for SPEF1 Gene


neXtProt entry for SPEF1 Gene

Proteomics data for SPEF1 Gene at MOPED

Post-translational modifications for SPEF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPEF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SPEF1 Gene

Domains & Families for SPEF1 Gene

Protein Domains for SPEF1 Gene

Suggested Antigen Peptide Sequences for SPEF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SPEF1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for SPEF1 Gene

Function for SPEF1 Gene

Phenotypes for SPEF1 Gene

MGI mutant phenotypes for SPEF1:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with SPEF1: view

Animal Models for SPEF1 Gene

MGI Knock Outs for SPEF1:

Animal Model Products

miRNA for SPEF1 Gene

miRTarBase miRNAs that target SPEF1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SPEF1 Gene

Localization for SPEF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPEF1 Gene

Cytoplasm. Cell projection, cilium, flagellum. Cytoplasm, cytoskeleton, cilium axoneme. Note=Present in the tails of developing and epididymal sperm, internal to the fibrous sheath and around the outer dense fibers of the sperm flagellum. Also found at the apical tip of cilia (By similarity). {ECO:0000250}.

Subcellular locations from

Jensen Localization Image for SPEF1 Gene COMPARTMENTS Subcellular localization image for SPEF1 gene
Compartment Confidence
cytoskeleton 3
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for SPEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with SPEF1: view

Pathways & Interactions for SPEF1 Gene

SuperPathways for SPEF1 Gene

No Data Available

Interacting Proteins for SPEF1 Gene

Gene Ontology (GO) - Biological Process for SPEF1 Gene


No data available for Pathways by source and SIGNOR curated interactions for SPEF1 Gene

Drugs & Compounds for SPEF1 Gene

No Compound Related Data Available

Transcripts for SPEF1 Gene

mRNA/cDNA for SPEF1 Gene

Unigene Clusters for SPEF1 Gene

Sperm flagellar 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SPEF1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b
SP1: -
SP2: -

Relevant External Links for SPEF1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SPEF1 Gene

mRNA expression in normal human tissues for SPEF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SPEF1 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x9.3), Brain - Caudate (basal ganglia) (x7.8), Brain - Nucleus accumbens (basal ganglia) (x7.5), and Testis (x4.4).

SOURCE GeneReport for Unigene cluster for SPEF1 Gene Hs.72620

genes like me logo Genes that share expression patterns with SPEF1: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for SPEF1 Gene

Orthologs for SPEF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SPEF1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia SPEF1 35
  • 88.98 (n)
  • 91.1 (a)
SPEF1 36
  • 91 (a)
(Canis familiaris)
Mammalia SPEF1 35
  • 89.27 (n)
  • 90.68 (a)
SPEF1 36
  • 91 (a)
(Mus musculus)
Mammalia Spef1 35
  • 85.61 (n)
  • 88.89 (a)
Spef1 16
Spef1 36
  • 89 (a)
(Pan troglodytes)
Mammalia SPEF1 35
  • 99.29 (n)
  • 99.58 (a)
SPEF1 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Spef1 35
  • 85.69 (n)
  • 87.98 (a)
(Monodelphis domestica)
Mammalia SPEF1 36
  • 74 (a)
(Gallus gallus)
Aves SPEF1 36
  • 47 (a)
(Anolis carolinensis)
Reptilia SPEF1 36
  • 58 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia spef1 35
  • 62.03 (n)
  • 60.54 (a)
(Danio rerio)
Actinopterygii -- 35
zgc:66426 35
  • 51.6 (n)
  • 46.12 (a)
SPEF1 36
  • 44 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008402 35
  • 58.16 (n)
  • 40.82 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12395 36
  • 23 (a)
CG16719 36
  • 17 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
Species with no ortholog for SPEF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SPEF1 Gene

Gene Tree for SPEF1 (if available)
Gene Tree for SPEF1 (if available)

Paralogs for SPEF1 Gene

No data available for Paralogs for SPEF1 Gene

Variants for SPEF1 Gene

Sequence variations from dbSNP and Humsavar for SPEF1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs579111 -- 3,783,225(-) CCAGC(A/G)GTTCC upstream-variant-2KB
rs1968648 -- 3,782,702(-) GACGA(A/G)TTACT upstream-variant-2KB
rs910654 -- 3,777,779(-) ATCCA(C/G)GCTAG utr-variant-3-prime
rs2017118 -- 3,782,383(-) tcttt(C/T)ttttt upstream-variant-2KB
rs2281477 -- 3,778,553(+) GGGTG(A/G)GAAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPEF1 Gene

Variant ID Type Subtype PubMed ID
nsv833899 CNV Loss 17160897
nsv912617 CNV Loss 21882294
nsv828673 CNV Gain 20364138
nsv912618 CNV Loss 21882294
dgv4522n71 CNV Loss 21882294
nsv912621 CNV Loss 21882294

Variation tolerance for SPEF1 Gene

Residual Variation Intolerance Score: 75.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.38; 42.23% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for SPEF1 Gene

Disorders for SPEF1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SPEF1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
pulsating exophthalmos
buruli ulcer
  • buruli ulcer disease
- elite association - COSMIC cancer census association via MalaCards
Search SPEF1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SPEF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SPEF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPEF1 Gene

Publications for SPEF1 Gene

  1. Spef1, a conserved novel testis protein found in mouse sperm flagella. (PMID: 15979255) Chan S.W. … Kalitsis P. (Gene 2005) 2 3 4 67
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  4. Towards a proteome-scale map of the human protein-protein interaction network. (PMID: 16189514) Rual J.F. … Vidal M. (Nature 2005) 3
  5. CLAMP, a novel microtubule-associated protein with EB-type calponin homology. (PMID: 16206169) Dougherty G.W. … Kachar B. (Cell Motil. Cytoskeleton 2005) 3

Products for SPEF1 Gene

Sources for SPEF1 Gene