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    SPEF1 sperm flagellar 1 [ Homo sapiens (human) ]

    Gene ID: 25876, updated on 5-Mar-2024

    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
    NEW
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    Genomic context

    See SPEF1 in Genome Data Viewer
    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_000020.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3713394-3713973 Neighboring gene heat shock protein family A (Hsp70) member 12B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3722898-3723425 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3725082-3725992 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:3729440-3729992 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:3729993-3730543 Neighboring gene adipose secreted signaling protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3747545-3748309 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:3748437-3749023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17482 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12627 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:3759113-3759730 Neighboring gene Sharpr-MPRA regulatory region 2213 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:3766083-3766793 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:3766794-3767503 Neighboring gene centromere protein B Neighboring gene cell division cycle 25B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:3775953-3776684 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12629 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12630 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:3777341-3777548 Neighboring gene Sharpr-MPRA regulatory region 3723 Neighboring gene Sharpr-MPRA regulatory region 8683 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:3782484-3783683

    Genomic regions, transcripts, and products

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp434I114

    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

    Preferred Names
    sperm flagellar protein 1
    Names
    calponin-homology and microtubule-associated protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_015417.5NP_056232.2  sperm flagellar protein 1

      See identical proteins and their annotated locations for NP_056232.2

      Status: VALIDATED

      Source sequence(s)
      AI925267, AL040853, AL080154, DB030684, DB033051
      Consensus CDS
      CCDS13063.2
      UniProtKB/Swiss-Prot
      A5YM71, D3DVY0, Q5JX78, Q9Y4P9
      Related
      ENSP00000369080.3, ENST00000379756.3
      Conserved Domains (1) summary
      pfam06294
      Location:14104
      CH_2; CH-like domain in sperm protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      3777504..3781448 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      3808445..3812388 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)