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Aliases for SPEF1 Gene

Aliases for SPEF1 Gene

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

Gene Wiki entry for SPEF1 Gene

Additional gene information for SPEF1 Gene

No data available for Entrez Gene Summary , CIViC 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20H003795 1.7 FANTOM5 ENCODE dbSUPER 11.6 -20.6 -20588 14.1 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF766 CDC25B ENSG00000229539 VPS16 SPEF1 PTPRA UBOX5 ADAM33 PANK2 LINC01730 GC20P003786
GH20H004081 1.9 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -302.4 -302400 5 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF766 RPL21P2 PANK2 SMOX ENSG00000229539 CDC25B CENPB SPEF1 RNF24 ENSG00000205300
GH20H004040 1.5 Ensembl ENCODE dbSUPER 10 -260.0 -259995 2.2 ATF1 FEZF1 ZNF121 GLIS2 FOS KLF7 ATF7 SP3 TSHZ1 ZNF610 ENSG00000229539 PANK2 AP5S1 SPEF1 FTLP3 RPL21P2
GH20H003809 1.4 ENCODE dbSUPER 10.1 -30.5 -30522 4.7 HDGF FOXA2 PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ENSG00000229539 VPS16 ADAM33 UBOX5 PCED1A C20orf194 MAVS CDC25B PRNP SPEF1
GH20H003739 1.3 FANTOM5 Ensembl ENCODE 10.8 +41.8 41767 0.6 SOX5 GATAD2A TFE3 SAP130 MNT NR2F2 RARA KAT8 RAD51 MXD3 C20orf27 SIGLEC1 CENPB CDC25B SPEF1 ENSG00000229539 PANK2 HSPA12B PIR58376
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPEF1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SPEF1 Gene

Genomic Locations for SPEF1 Gene
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

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

Gene Families for SPEF1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 UniProtKB/Swiss-Prot for SPEF1 Gene

Function for SPEF1 Gene

Phenotypes From GWAS Catalog for SPEF1 Gene

Gene Ontology (GO) - Molecular Function for SPEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 25416956
GO:0008017 microtubule binding ISS --
genes like me logo Genes that share ontologies with SPEF1: view

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

CRISPR Products

miRNA for SPEF1 Gene

miRTarBase miRNAs that target SPEF1

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SPEF1 gene
Compartment Confidence
cytoskeleton 4
nucleus 2
cytosol 2

Gene Ontology (GO) - Cellular Components for SPEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA --
GO:0005930 axoneme ISS --
genes like me logo Genes that share ontologies with SPEF1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPEF1 Gene

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0007026 negative regulation of microtubule depolymerization ISS --
GO:0008150 biological_process ND --
GO:0016477 cell migration ISS --
genes like me logo Genes that share ontologies with SPEF1: view

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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

NURSA nuclear receptor signaling pathways regulating expression of SPEF1 Gene:


SOURCE GeneReport for Unigene cluster for SPEF1 Gene:


Evidence on tissue expression from TISSUES for SPEF1 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with SPEF1: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia SPEF1 34 33
  • 99.29 (n)
(Canis familiaris)
Mammalia SPEF1 34 33
  • 89.27 (n)
(Bos Taurus)
Mammalia SPEF1 34 33
  • 88.98 (n)
(Rattus norvegicus)
Mammalia Spef1 33
  • 85.69 (n)
(Mus musculus)
Mammalia Spef1 16 34 33
  • 85.61 (n)
(Monodelphis domestica)
Mammalia SPEF1 34
  • 74 (a)
(Gallus gallus)
Aves SPEF1 34
  • 47 (a)
(Anolis carolinensis)
Reptilia SPEF1 34
  • 58 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia spef1 33
  • 62.03 (n)
(Danio rerio)
Actinopterygii zgc:66426 33
  • 51.6 (n)
SPEF1 34
  • 44 (a)
-- 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008402 33
  • 58.16 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12395 34
  • 23 (a)
CG16719 34
  • 17 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
Species where no ortholog for SPEF1 was found in the sources mined by GeneCards:
  • 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
rs1000082027 -- 3,783,217(+) CCTTG(A/G)TTGGA upstream-variant-2KB
rs1000947623 -- 3,781,791(+) ATCTG(C/T)CACCC upstream-variant-2KB
rs1001121997 -- 3,777,679(+) TCTCC(-/G)TCGCC utr-variant-3-prime
rs1001508296 -- 3,777,958(+) TGGAA(A/G)GCGGT utr-variant-3-prime
rs1002144633 -- 3,779,358(+) CTGAG(G/T)GGTAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv833899 CNV loss 17160897
nsv828673 CNV gain 20364138
nsv585286 CNV loss 21841781
nsv585285 CNV loss 21841781

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)

Relevant External Links for SPEF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPEF1 Gene

Disorders for SPEF1 Gene

Relevant External Links for SPEF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for SPEF1 Gene.

No data available for MalaCards , 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 SW … Kalitsis P (Gene 2005) 2 3 4 60
  2. Radial intercalation is regulated by the Par complex and the microtubule-stabilizing protein CLAMP/Spef1. (PMID: 25070955) Werner ME … Mitchell BJ (The Journal of cell biology 2014) 2 3 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4 60
  5. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 60

Products for SPEF1 Gene

Sources for SPEF1 Gene

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