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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

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
GH20G004081 2 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -302.4 -302400 5.0 HDGF PKNOX1 MLX ARNT ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 RPL21P2 PANK2 SMOX ENSG00000229539 CENPB CDC25B SPEF1 RNF24 ENSG00000205300
GH20G003795 1.7 FANTOM5 ENCODE dbSUPER 11.6 -20.6 -20588 14.1 CREB3L1 AGO1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC CDC25B SPEF1 PANK2 LINC01730 GC20P003786
GH20G003838 1.4 Ensembl ENCODE 11.4 -57.7 -57673 1.5 CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 CDC25B HSPA12B CENPB PANK2 ENSG00000229539 SPEF1 VPS16 C20orf27 MAVS AP5S1
GH20G004040 1.5 Ensembl ENCODE dbSUPER 10 -260.0 -259995 2.2 ATF1 FEZF1 ZNF121 GLIS2 GATA2 FOS KLF7 SP3 JUNB TSHZ1 ENSG00000229539 PANK2 AP5S1 SPEF1 FTLP3 RPL21P2
GH20G003739 1.3 FANTOM5 Ensembl ENCODE 10.8 +41.8 41767 0.6 SAP130 RARA THAP11 GATAD2A SOX5 TFE3 MNT NR2F2 KAT8 RAD51 C20orf27 SIGLEC1 CDC25B CENPB SPEF1 PANK2 ENSG00000229539 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 Location for SPEF1 Gene

Chromosome:
20
Start:
3,777,504 bp from pter
End:
3,781,466 bp from pter
Size:
3,963 bases
Orientation:
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:
    Q9Y4P9-SPEF1_HUMAN
    Recommended name:
    Sperm flagellar protein 1
    Protein Accession:
    Q9Y4P9
    Secondary Accessions:
    • A5YM71
    • D3DVY0
    • Q5JX78

    Protein attributes for SPEF1 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

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

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

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
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

Clone 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

COMPARTMENTS
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

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:0008150 biological_process ND --
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

Clone Products

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

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b
SP1: -
SP2: -
SP3:
SP4:

Relevant External Links for SPEF1 Gene

GeneLoc Exon Structure for
SPEF1
ECgene alternative splicing isoforms for
SPEF1

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:

SPEF1

SOURCE GeneReport for Unigene cluster for SPEF1 Gene:

Hs.72620

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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia SPEF1 34 35
  • 99.29 (n)
dog
(Canis familiaris)
Mammalia SPEF1 34 35
  • 89.27 (n)
cow
(Bos Taurus)
Mammalia SPEF1 34 35
  • 88.98 (n)
rat
(Rattus norvegicus)
Mammalia Spef1 34
  • 85.69 (n)
mouse
(Mus musculus)
Mammalia Spef1 34 16 35
  • 85.61 (n)
oppossum
(Monodelphis domestica)
Mammalia SPEF1 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPEF1 35
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPEF1 35
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spef1 34
  • 62.03 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:66426 34
  • 51.6 (n)
SPEF1 35
  • 44 (a)
OneToOne
-- 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008402 34
  • 58.16 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12395 35
  • 23 (a)
OneToMany
CG16719 35
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 46 (a)
OneToOne
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

ENSEMBL:
Gene Tree for SPEF1 (if available)
TreeFam:
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
nsv585285 CNV loss 21841781
nsv585286 CNV loss 21841781
nsv828673 CNV gain 20364138
nsv833899 CNV loss 17160897

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
SPEF1

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:
SPEF1

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 S.W. … Kalitsis P. (Gene 2005) 2 3 4 64
  2. Radial intercalation is regulated by the Par complex and the microtubule-stabilizing protein CLAMP/Spef1. (PMID: 25070955) Werner M.E. … Mitchell B.J. (J. Cell Biol. 2014) 2 3 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Towards 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 Res. 2001) 3 4 64
  5. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4 64

Products for SPEF1 Gene

Sources for SPEF1 Gene

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