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CFAP57 cilia and flagella associated protein 57 [ Homo sapiens (human) ]

Gene ID: 149465, updated on 5-Mar-2024

Summary

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Official Symbol
CFAP57provided by HGNC
Official Full Name
cilia and flagella associated protein 57provided by HGNC
Primary source
HGNC:HGNC:26485
See related
Ensembl:ENSG00000243710 MIM:614259; AllianceGenome:HGNC:26485
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
VWS2; WDR65
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 is thought to function in craniofacial development, possibly in the fusion of lip and palate. A missense mutation in this gene is associated with Van der Woude syndrome 2. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Expression
Biased expression in testis (RPKM 8.0), lung (RPKM 1.3) and 2 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
1p34.2
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (43172330..43254358)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (43042826..43124856)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (43638001..43720029)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:43618601-43619564 Neighboring gene cilia and flagella associated protein 144 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43637036-43637672 Neighboring gene EBNA1 binding protein 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43637673-43638308 Neighboring gene NANOG hESC enhancer GRCh37_chr1:43643293-43643794 Neighboring gene microRNA 6733 Neighboring gene uncharacterized LOC105378685 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43651642-43652142 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43652143-43652643 Neighboring gene RNA, 5S ribosomal pseudogene 46 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:43671864-43673063 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 914 Neighboring gene uncharacterized LOC124904164 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:43735285-43735788 Neighboring gene transmembrane protein 125 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:43751233-43751791 Neighboring gene chromosome 1 open reading frame 210

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia. Bustamante-Marin XM, et al. PLoS Genet, 2020 Aug. PMID 32764743, Free PMC Article
  2. Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34. Koillinen H, et al. Eur J Hum Genet, 2001 Oct. PMID 11781685
  3. Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice. Ma A, et al. JCI Insight, 2023 Feb 8. PMID 36752199, Free PMC Article
  4. Transcriptional targeting in the airway using novel gene regulatory elements. Burnight ER, et al. Am J Respir Cell Mol Biol, 2012 Aug. PMID 22447971, Free PMC Article
  5. WD-repeat proteins: structure characteristics, biological function, and their involvement in human diseases. Li D, et al. Cell Mol Life Sci, 2001 Dec. PMID 11814058

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice.
    Title: Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice.
  2. Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia.
    Title: Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia.
  3. A missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome.
    Title: Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study identifies a locus on chromosome 14q21 as a predictor of leukocyte telomere length and as a marker of susceptibility for bladder cancer.
EBI GWAS Catalog
Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ32000

General protein information

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Preferred Names
cilia- and flagella-associated protein 57
Names
WD repeat-containing protein 65

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_028079.2 RefSeqGene

    Range
    5001..87029
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001167965.1 → NP_001161437.1  cilia- and flagella-associated protein 57 isoform b

    See identical proteins and their annotated locations for NP_001161437.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in both UTRs and lacks several exons in the 3' coding region, but includes an alternate 3' exon, compared to variant 5. The resulting isoform (b, also known as WDR65b) has a shorter and distinct C-terminus, compared to isoform a. Both variants 1 and 3 encode isoform b.
    Source sequence(s)
    AC093420, AK056562, BC117306, DB057663
    Consensus CDS
    CCDS479.1
    UniProtKB/Swiss-Prot
    Q96MR6
    Conserved Domains (2) summary
    sd00039
    Location:341 → 387
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:341 → 619
    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_001195831.3 → NP_001182760.2  cilia- and flagella-associated protein 57 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) represents the longest transcript and encodes the longer isoform (a, also known as WDR65a). This variant is supported by data in PMID:21574244.
    Source sequence(s)
    AC093420, AK056562, BU609144, CD691772, DB057663, DV080053, DV080109, DV080557
    Consensus CDS
    CCDS72768.1
    UniProtKB/TrEMBL
    A0A087WVY5
    Related
    ENSP00000479773.1, ENST00000610710.4
    Conserved Domains (6) summary
    COG2319
    Location:335 → 670
    WD40; WD40 repeat [General function prediction only]
    pfam09728
    Location:728 → 1000
    Taxilin; Myosin-like coiled-coil protein
    sd00039
    Location:341 → 387
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:388 → 666
    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 ...
    cl23720
    Location:887 → 973
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    cl23765
    Location:792 → 909
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits

  3. NM_001378189.1 → NP_001365118.1  cilia- and flagella-associated protein 57 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC093420, AL139138
    Consensus CDS
    CCDS90934.1
    UniProtKB/Swiss-Prot
    A6NKQ3, Q17RI9, Q5TAI0, Q96MR6
    Related
    ENSP00000361570.4, ENST00000372492.9
    Conserved Domains (4) summary
    COG2319
    Location:29 → 256
    WD40; WD40 repeat [General function prediction only]
    TIGR04523
    Location:703 → 1221
    Mplasa_alph_rch; helix-rich Mycoplasma protein
    sd00039
    Location:341 → 387
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:388 → 666
    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 ...

  4. NM_152498.3 → NP_689711.2  cilia- and flagella-associated protein 57 isoform b

    See identical proteins and their annotated locations for NP_689711.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 3' UTR and lacks several exons in the 3' coding region, but includes an alternate 3' exon, compared to variant 5. The resulting isoform (b, also known as WDR65b) has a shorter and distinct C-terminus, compared to isoform a. Both variants 1 and 3 encode isoform b.
    Source sequence(s)
    AC093420, AK056562, DB057663
    Consensus CDS
    CCDS479.1
    UniProtKB/Swiss-Prot
    Q96MR6
    Related
    ENSP00000435310.1, ENST00000528956.5
    Conserved Domains (2) summary
    sd00039
    Location:341 → 387
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:341 → 619
    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    43172330..43254358
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540796.2 → XP_011539098.1  cilia- and flagella-associated protein 57 isoform X2

    See identical proteins and their annotated locations for XP_011539098.1

    Conserved Domains (6) summary
    COG2319
    Location:324 → 659
    WD40; WD40 repeat [General function prediction only]
    pfam09728
    Location:717 → 989
    Taxilin; Myosin-like coiled-coil protein
    pfam16046
    Location:919 → 1014
    FAM76; FAM76 protein
    sd00039
    Location:330 → 376
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:377 → 655
    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 ...
    cl23765
    Location:781 → 898
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits

  2. XM_011540793.1 → XP_011539095.1  cilia- and flagella-associated protein 57 isoform X1

    See identical proteins and their annotated locations for XP_011539095.1

    UniProtKB/Swiss-Prot
    A6NKQ3, Q17RI9, Q5TAI0, Q96MR6
    Conserved Domains (4) summary
    COG2319
    Location:29 → 256
    WD40; WD40 repeat [General function prediction only]
    TIGR04523
    Location:703 → 1221
    Mplasa_alph_rch; helix-rich Mycoplasma protein
    sd00039
    Location:341 → 387
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:388 → 666
    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 ...

  3. XM_047447334.1 → XP_047303290.1  cilia- and flagella-associated protein 57 isoform X4

  4. XM_006710383.2 → XP_006710446.1  cilia- and flagella-associated protein 57 isoform X2

    See identical proteins and their annotated locations for XP_006710446.1

    Conserved Domains (6) summary
    COG2319
    Location:324 → 659
    WD40; WD40 repeat [General function prediction only]
    pfam09728
    Location:717 → 989
    Taxilin; Myosin-like coiled-coil protein
    pfam16046
    Location:919 → 1014
    FAM76; FAM76 protein
    sd00039
    Location:330 → 376
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:377 → 655
    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 ...
    cl23765
    Location:781 → 898
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits

  5. XM_017000422.3 → XP_016855911.1  cilia- and flagella-associated protein 57 isoform X9

    UniProtKB/TrEMBL
    A0A087WVY5
    Conserved Domains (6) summary
    COG2319
    Location:335 → 670
    WD40; WD40 repeat [General function prediction only]
    pfam09728
    Location:728 → 1000
    Taxilin; Myosin-like coiled-coil protein
    sd00039
    Location:341 → 387
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:388 → 666
    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 ...
    cl23720
    Location:887 → 973
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    cl23765
    Location:792 → 909
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits

  6. XM_011540798.2 → XP_011539100.1  cilia- and flagella-associated protein 57 isoform X5

    Conserved Domains (6) summary
    COG2319
    Location:335 → 596
    WD40; WD40 repeat [General function prediction only]
    pfam09728
    Location:657 → 929
    Taxilin; Myosin-like coiled-coil protein
    pfam16046
    Location:859 → 954
    FAM76; FAM76 protein
    sd00039
    Location:341 → 387
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:341 → 607
    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 ...
    cl23765
    Location:721 → 838
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits

  7. XM_011540799.2 → XP_011539101.1  cilia- and flagella-associated protein 57 isoform X6

    Conserved Domains (6) summary
    COG2319
    Location:304 → 538
    WD40; WD40 repeat [General function prediction only]
    pfam09728
    Location:599 → 871
    Taxilin; Myosin-like coiled-coil protein
    pfam16046
    Location:801 → 896
    FAM76; FAM76 protein
    sd00039
    Location:341 → 387
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:338 → 537
    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 ...
    cl23765
    Location:663 → 780
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits

  8. XM_047447331.1 → XP_047303287.1  cilia- and flagella-associated protein 57 isoform X2

  9. XM_011540795.4 → XP_011539097.1  cilia- and flagella-associated protein 57 isoform X1

    See identical proteins and their annotated locations for XP_011539097.1

    UniProtKB/Swiss-Prot
    A6NKQ3, Q17RI9, Q5TAI0, Q96MR6
    Conserved Domains (4) summary
    COG2319
    Location:29 → 256
    WD40; WD40 repeat [General function prediction only]
    TIGR04523
    Location:703 → 1221
    Mplasa_alph_rch; helix-rich Mycoplasma protein
    sd00039
    Location:341 → 387
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:388 → 666
    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 ...

  10. XM_011540794.2 → XP_011539096.1  cilia- and flagella-associated protein 57 isoform X1

    See identical proteins and their annotated locations for XP_011539096.1

    UniProtKB/Swiss-Prot
    A6NKQ3, Q17RI9, Q5TAI0, Q96MR6
    Conserved Domains (4) summary
    COG2319
    Location:29 → 256
    WD40; WD40 repeat [General function prediction only]
    TIGR04523
    Location:703 → 1221
    Mplasa_alph_rch; helix-rich Mycoplasma protein
    sd00039
    Location:341 → 387
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:388 → 666
    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 ...

  11. XM_011540800.3 → XP_011539102.1  cilia- and flagella-associated protein 57 isoform X7

    Conserved Domains (6) summary
    COG2319
    Location:335 → 670
    WD40; WD40 repeat [General function prediction only]
    pfam09728
    Location:728 → 1000
    Taxilin; Myosin-like coiled-coil protein
    pfam16046
    Location:930 → 1025
    FAM76; FAM76 protein
    sd00039
    Location:341 → 387
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:388 → 666
    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 ...
    cl23765
    Location:792 → 909
    iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits

  12. XM_047447336.1 → XP_047303292.1  cilia- and flagella-associated protein 57 isoform X8

  13. XM_011540797.3 → XP_011539099.1  cilia- and flagella-associated protein 57 isoform X3

    Conserved Domains (6) summary
    COG2319
    Location:314 → 649
    WD40; WD40 repeat [General function prediction only]
    pfam09728
    Location:707 → 979
    Taxilin; Myosin-like coiled-coil protein
    pfam16046
    Location:909 → 1004
    FAM76; FAM76 protein
    sd00039
    Location:320 → 366
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:367 → 645
    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 ...
    cl15774
    Location:741 → 867
    Hemerythrin-like; Hemerythrin family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    43042826..43124856
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054334649.1 → XP_054190624.1  cilia- and flagella-associated protein 57 isoform X2

  2. XM_054334647.1 → XP_054190622.1  cilia- and flagella-associated protein 57 isoform X1

  3. XM_054334651.1 → XP_054190626.1  cilia- and flagella-associated protein 57 isoform X4

  4. XM_054334648.1 → XP_054190623.1  cilia- and flagella-associated protein 57 isoform X2

  5. XM_054334658.1 → XP_054190633.1  cilia- and flagella-associated protein 57 isoform X9

  6. XM_054334652.1 → XP_054190627.1  cilia- and flagella-associated protein 57 isoform X5

  7. XM_054334653.1 → XP_054190628.1  cilia- and flagella-associated protein 57 isoform X6

  8. XM_054334654.1 → XP_054190629.1  cilia- and flagella-associated protein 57 isoform X7

  9. XM_054334655.1 → XP_054190630.1  cilia- and flagella-associated protein 57 isoform X8

  10. XM_054334657.1 → XP_054190632.1  cilia- and flagella-associated protein 57 isoform X11

  11. XM_054334656.1 → XP_054190631.1  cilia- and flagella-associated protein 57 isoform X10

  12. XM_054334650.1 → XP_054190625.1  cilia- and flagella-associated protein 57 isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001167966.1: Suppressed sequence

    Description
    NM_001167966.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.

  2. NR_030778.1: Suppressed sequence

    Description
    NR_030778.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96MR6.3 GenPept UniProtKB/Swiss-Prot:Q96MR6

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