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    CFAP251 cilia and flagella associated protein 251 [ Homo sapiens (human) ]

    Gene ID: 144406, updated on 5-Mar-2024

    Summary

    Official Symbol
    CFAP251provided by HGNC
    Official Full Name
    cilia and flagella associated protein 251provided by HGNC
    Primary source
    HGNC:HGNC:28506
    See related
    Ensembl:ENSG00000158023 MIM:618146; AllianceGenome:HGNC:28506
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    WDR66; SPGF33; CaM-IP4
    Summary
    This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]
    Expression
    Biased expression in testis (RPKM 11.6), thyroid (RPKM 2.6) and 5 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CFAP251 in Genome Data Viewer
    Location:
    12q24.31
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (121918592..122003919)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (121914890..121999723)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (122356498..122441825)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:122293687-122294886 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:122297907-122298424 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:122298425-122298941 Neighboring gene Sharpr-MPRA regulatory region 2080 Neighboring gene 4-hydroxyphenylpyruvate dioxygenase Neighboring gene Sharpr-MPRA regulatory region 2229 Neighboring gene transcript inducer of AURKA lysosomal degradation Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:122326353-122326966 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:122326967-122327580 Neighboring gene proteasome 26S subunit, non-ATPase 9 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:122349577-122349733 Neighboring gene RNA, U7 small nuclear 170 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5001 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:122362388-122363066 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:122396110-122396629 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:122396630-122397148 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:122409067-122409566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7192 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7193 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7195 Neighboring gene Sharpr-MPRA regulatory region 10891 Neighboring gene uncharacterized LOC124903038 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5003 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5004 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:122460343-122461158 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7197 Neighboring gene BAF chromatin remodeling complex subunit BCL7A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:122492684-122493298 Neighboring gene Sharpr-MPRA regulatory region 9922 Neighboring gene Sharpr-MPRA regulatory region 8907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7199 Neighboring gene long intergenic non-protein coding RNA 2985

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Spermatogenic failure 33
    MedGen: C4748395 OMIM: 618152 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
    EBI GWAS Catalog
    A genome-wide association study identifies three loci associated with mean platelet volume.
    EBI GWAS Catalog
    A genome-wide association study of metabolic traits in human urine.
    EBI GWAS Catalog
    A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
    EBI GWAS Catalog
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: PSMD9

    Clone Names

    • FLJ39783, MGC33630

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cilium movement ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in motile cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of radial spoke stalk ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in sperm flagellum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    cilia- and flagella-associated protein 251
    Names
    WD repeat domain 66
    WD repeat-containing protein 66

    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.

    Genomic

    1. NG_021364.2 RefSeqGene

      Range
      5036..90363
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001178003.2NP_001171474.1  cilia- and flagella-associated protein 251 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and 3' coding region, compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AA858079, AC069503, BC036233, CN480050
      Consensus CDS
      CCDS53840.1
      Related
      ENSP00000380595.2, ENST00000397454.2
      Conserved Domains (3) summary
      COG2319
      Location:283717
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:555604
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:606920
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    2. NM_144668.6NP_653269.3  cilia- and flagella-associated protein 251 isoform 1

      See identical proteins and their annotated locations for NP_653269.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC028421, BC036233, CA503090
      Consensus CDS
      CCDS41853.1
      UniProtKB/Swiss-Prot
      C9J1W2, Q8IYA3, Q8N898, Q8NDE7, Q8TBY9
      Related
      ENSP00000288912.4, ENST00000288912.9
      Conserved Domains (4) summary
      COG2319
      Location:283717
      WD40; WD40 repeat [General function prediction only]
      COG5126
      Location:9721087
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      sd00039
      Location:555604
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:606920
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      121918592..122003919
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      121914890..121999723
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)