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

Gene ID: 389799, updated on 11-Apr-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 located in cilium. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 4.9) See more
Orthologs
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Genomic context

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Location:
9q34.13
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (132410211..132573319)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (144624655..144784525)
105.20220307 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
  • 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 
Component Evidence Code Pubs
located_in axonemal B tubule inner sheath IEA
Inferred from Electronic Annotation
more info
  
located_in axonemal microtubule IDA
Inferred from Direct Assay
more info
 PubMed 

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_2023_10

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

Gene LinkOut

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