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SPEF1 sperm flagellar 1 [ Homo sapiens (human) ]

Gene ID: 25876, updated on 2-Oct-2022

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
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Genomic context

See SPEF1 in Genome Data Viewer
Location:
20p13
Exon count:
7
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (3777504..3781448, complement)
110 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 heat shock protein family A (Hsp70) member 12B Neighboring gene chromosome 20 open reading frame 27 Neighboring gene Sharpr-MPRA regulatory region 2213 Neighboring gene centromere protein B Neighboring gene cell division cycle 25B Neighboring gene Sharpr-MPRA regulatory region 3723

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

Homology

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
PubMed 
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 cell death IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
PubMed 
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
PubMed 
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 

General protein information

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.

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
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)