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

Gene ID: 149465, updated on 1-Aug-2020

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
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

Genomic context

See CFAP57 in Genome Data Viewer
Location:
1p34.2
Exon count:
28
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (43172330..43254358)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (43638001..43720029)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 183 member A Neighboring gene EBNA1 binding protein 2 Neighboring gene uncharacterized LOC105378685 Neighboring gene microRNA 6733 Neighboring gene RNA, 5S ribosomal pseudogene 46 Neighboring gene transmembrane protein 125 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

Phenotypes

NHGRI 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.
NHGRI GWA Catalog
Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32000

General protein information

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

NCBI Reference Sequences (RefSeq)

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..43549
    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/Swiss-Prot
    Q96MR6
    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
    Related
    ENSP00000361570.4, ENST00000372492.8
  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: Homo sapiens Annotation Release 109.20200522

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. 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
    Q96MR6
    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
  2. XM_017000422.2XP_016855911.1  cilia- and flagella-associated protein 57 isoform X8

    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
  3. XM_011540794.1XP_011539096.1  cilia- and flagella-associated protein 57 isoform X1

    See identical proteins and their annotated locations for XP_011539096.1

    UniProtKB/Swiss-Prot
    Q96MR6
    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
  4. XM_011540800.2XP_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
  5. XM_017000421.1XP_016855910.1  cilia- and flagella-associated protein 57 isoform X4

  6. XM_011540798.1XP_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_011540799.1XP_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_006710383.1XP_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
  9. XM_011540795.3XP_011539097.1  cilia- and flagella-associated protein 57 isoform X1

    See identical proteins and their annotated locations for XP_011539097.1

    UniProtKB/Swiss-Prot
    Q96MR6
    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
  10. XM_011540796.1XP_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
  11. XM_011540797.2XP_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

RNA

  1. XR_001736994.2 RNA Sequence

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.
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