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

    Gene ID: 149465, updated on 17-Jun-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CFAP57 in Genome Data Viewer
    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

    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

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ32000

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

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

    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_028079.2 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001167965.1NP_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:341387
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:341619
      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_001195831.3NP_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:335670
      WD40; WD40 repeat [General function prediction only]
      pfam09728
      Location:7281000
      Taxilin; Myosin-like coiled-coil protein
      sd00039
      Location:341387
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:388666
      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:887973
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
      cl23765
      Location:792909
      iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
    3. NM_001378189.1NP_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:29256
      WD40; WD40 repeat [General function prediction only]
      TIGR04523
      Location:7031221
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      sd00039
      Location:341387
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:388666
      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_152498.3NP_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:341387
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:341619
      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_011540796.2XP_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:324659
      WD40; WD40 repeat [General function prediction only]
      pfam09728
      Location:717989
      Taxilin; Myosin-like coiled-coil protein
      pfam16046
      Location:9191014
      FAM76; FAM76 protein
      sd00039
      Location:330376
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:377655
      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:781898
      iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
    2. XM_011540793.1XP_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:29256
      WD40; WD40 repeat [General function prediction only]
      TIGR04523
      Location:7031221
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      sd00039
      Location:341387
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:388666
      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_047447334.1XP_047303290.1  cilia- and flagella-associated protein 57 isoform X4

    4. XM_006710383.2XP_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:324659
      WD40; WD40 repeat [General function prediction only]
      pfam09728
      Location:717989
      Taxilin; Myosin-like coiled-coil protein
      pfam16046
      Location:9191014
      FAM76; FAM76 protein
      sd00039
      Location:330376
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:377655
      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:781898
      iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
    5. XM_017000422.3XP_016855911.1  cilia- and flagella-associated protein 57 isoform X9

      UniProtKB/TrEMBL
      A0A087WVY5
      Conserved Domains (6) summary
      COG2319
      Location:335670
      WD40; WD40 repeat [General function prediction only]
      pfam09728
      Location:7281000
      Taxilin; Myosin-like coiled-coil protein
      sd00039
      Location:341387
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:388666
      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:887973
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
      cl23765
      Location:792909
      iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
    6. XM_011540798.2XP_011539100.1  cilia- and flagella-associated protein 57 isoform X5

      Conserved Domains (6) summary
      COG2319
      Location:335596
      WD40; WD40 repeat [General function prediction only]
      pfam09728
      Location:657929
      Taxilin; Myosin-like coiled-coil protein
      pfam16046
      Location:859954
      FAM76; FAM76 protein
      sd00039
      Location:341387
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:341607
      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:721838
      iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
    7. XM_011540799.2XP_011539101.1  cilia- and flagella-associated protein 57 isoform X6

      Conserved Domains (6) summary
      COG2319
      Location:304538
      WD40; WD40 repeat [General function prediction only]
      pfam09728
      Location:599871
      Taxilin; Myosin-like coiled-coil protein
      pfam16046
      Location:801896
      FAM76; FAM76 protein
      sd00039
      Location:341387
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:338537
      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:663780
      iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
    8. XM_047447331.1XP_047303287.1  cilia- and flagella-associated protein 57 isoform X2

    9. XM_011540795.4XP_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:29256
      WD40; WD40 repeat [General function prediction only]
      TIGR04523
      Location:7031221
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      sd00039
      Location:341387
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:388666
      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_011540794.2XP_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:29256
      WD40; WD40 repeat [General function prediction only]
      TIGR04523
      Location:7031221
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      sd00039
      Location:341387
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:388666
      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_011540800.3XP_011539102.1  cilia- and flagella-associated protein 57 isoform X7

      Conserved Domains (6) summary
      COG2319
      Location:335670
      WD40; WD40 repeat [General function prediction only]
      pfam09728
      Location:7281000
      Taxilin; Myosin-like coiled-coil protein
      pfam16046
      Location:9301025
      FAM76; FAM76 protein
      sd00039
      Location:341387
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:388666
      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:792909
      iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
    12. XM_047447336.1XP_047303292.1  cilia- and flagella-associated protein 57 isoform X8

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

      Conserved Domains (6) summary
      COG2319
      Location:314649
      WD40; WD40 repeat [General function prediction only]
      pfam09728
      Location:707979
      Taxilin; Myosin-like coiled-coil protein
      pfam16046
      Location:9091004
      FAM76; FAM76 protein
      sd00039
      Location:320366
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:367645
      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:741867
      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_054334649.1XP_054190624.1  cilia- and flagella-associated protein 57 isoform X2

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

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

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

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

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

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

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

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

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

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

    12. XM_054334650.1XP_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.