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    CFAP77 cilia and flagella associated protein 77 [ Homo sapiens (human) ]

    Gene ID: 389799, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CFAP77provided by HGNC
    Official Full Name
    cilia and flagella associated protein 77provided by HGNC
    Primary source
    HGNC:HGNC:33776
    See related
    Ensembl:ENSG00000188523 AllianceGenome:HGNC:33776
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C9orf171
    Summary
    Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Restricted expression toward testis (RPKM 4.9) See more
    Orthologs
    mouse all
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    Genomic context

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    See CFAP77 in Genome Data Viewer
    Location:
    9q34.13
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (132410211..132573319)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (144624655..144784525)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (135285598..135448706)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:135144739-135145938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135171222-135171722 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135171723-135172223 Neighboring gene senataxin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29217 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:135229958-135231157 Neighboring gene Sharpr-MPRA regulatory region 6614 Neighboring gene uncharacterized LOC124902292 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29219 Neighboring gene uncharacterized LOC105376304 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20431 Neighboring gene transcription termination factor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135297649-135298150 Neighboring gene Sharpr-MPRA regulatory region 9749 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:135300191-135300691 Neighboring gene RNA, U5D small nuclear 2, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135333137-135333638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135333639-135334138 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135356467-135356968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20432 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20433 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135372743-135373244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135385815-135386352 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135385275-135385814 Neighboring gene uncharacterized LOC124902293 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:135406706-135406978 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20434 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:135462359-135463211 Neighboring gene NANOG hESC enhancer GRCh37_chr9:135467821-135468322 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:135486212-135486944 Neighboring gene BarH like homeobox 1 Neighboring gene DEAD-box helicase 31 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:135545227-135546094

    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 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. The lung-specific proteome defined by integration of transcriptomics and antibody-based profiling. Lindskog C, et al. FASEB J, 2014 Dec. PMID 25169055
    2. SPACA9 is a lumenal protein of human ciliary singlet and doublet microtubules. Gui M, et al. Proc Natl Acad Sci U S A, 2022 Oct 11. PMID 36191189, Free PMC Article
    3. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661, Free PMC Article
    4. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. Aregger M, et al. Nat Metab, 2020 Jun. PMID 32694731, Free PMC Article
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, et al. Diabetes Care, 2010 Oct. PMID 20628086, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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

    • FLJ46082, MGC148067

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in axonemal B tubule inner sheath ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in axonemal microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    cilia- and flagella-associated protein 77

    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.

    mRNA and Protein(s)

    1. NM_001282957.2 → NP_001269886.1  cilia- and flagella-associated protein 77 isoform 2

      See identical proteins and their annotated locations for NP_001269886.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AL354735, BC118593, HY017665
      Consensus CDS
      CCDS65167.1
      UniProtKB/Swiss-Prot
      Q6ZQR2
      Related
      ENSP00000376909.2, ENST00000393216.3
      Conserved Domains (1) summary
      pfam14825
      Location:54 → 204
      DUF4483; Domain of unknown function (DUF4483)

    2. NM_207417.3 → NP_997300.1  cilia- and flagella-associated protein 77 isoform 1

      See identical proteins and their annotated locations for NP_997300.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK128819, AL353701, AL354735
      Consensus CDS
      CCDS6949.1
      UniProtKB/Swiss-Prot
      Q147X1, Q6ZQR2
      Related
      ENSP00000343290.2, ENST00000343036.6
      Conserved Domains (1) summary
      pfam14825
      Location:54 → 240
      DUF4483; Domain of unknown function (DUF4483)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      132410211..132573319
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518670.3 → XP_011516972.1  cilia- and flagella-associated protein 77 isoform X1

      Conserved Domains (1) summary
      pfam14825
      Location:54 → 204
      DUF4483; Domain of unknown function (DUF4483)

    2. XM_017014711.2 → XP_016870200.1  cilia- and flagella-associated protein 77 isoform X3

    3. XM_011518671.2 → XP_011516973.1  cilia- and flagella-associated protein 77 isoform X2

      UniProtKB/TrEMBL
      A2A393
      Related
      ENSP00000376908.3, ENST00000393215.7
      Conserved Domains (1) summary
      pfam14825
      Location:54 → 175
      DUF4483; Domain of unknown function (DUF4483)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      144624655..144784525
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362951.1 → XP_054218926.1  cilia- and flagella-associated protein 77 isoform X1

    2. XM_054362953.1 → XP_054218928.1  cilia- and flagella-associated protein 77 isoform X3

    3. XM_054362952.1 → XP_054218927.1  cilia- and flagella-associated protein 77 isoform X2

      UniProtKB/TrEMBL
      A2A393
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZQR2.1 GenPept UniProtKB/Swiss-Prot:Q6ZQR2

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