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

Gene ID: 144406, updated on 6-Nov-2022

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
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Genomic context

See CFAP251 in Genome Data Viewer
Location:
12q24.31
Exon count:
23
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (121918592..122003919)
110 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 uncharacterized LOC105370035 Neighboring gene 4-hydroxyphenylpyruvate dioxygenase Neighboring gene proteasome 26S subunit, non-ATPase 9 Neighboring gene RNA, U7 small nuclear 170 pseudogene Neighboring gene Sharpr-MPRA regulatory region 2985/8376 Neighboring gene uncharacterized LOC124903038 Neighboring gene BAF chromatin remodeling complex subunit BCL7A Neighboring gene Sharpr-MPRA regulatory region 8907 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

Homology

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
 
is_active_in motile cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in motile cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in sperm flagellum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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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.

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
    UniProtKB/Swiss-Prot
    Q8TBY9
    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
    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: 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_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)