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    CFAP276 cilia and flagella associated protein 276 [ Homo sapiens (human) ]

    Gene ID: 127003, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CFAP276provided by HGNC
    Official Full Name
    cilia and flagella associated protein 276provided by HGNC
    Primary source
    HGNC:HGNC:32331
    See related
    Ensembl:ENSG00000179902 MIM:618682; AllianceGenome:HGNC:32331
    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
    C1orf194; C10orf194
    Summary
    Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 30.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See CFAP276 in Genome Data Viewer
    Location:
    1p13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (109105951..109113831, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (109138817..109146691, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (109648573..109656453, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:109642337-109643096 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:109643857-109644615 Neighboring gene poly(rC) binding protein 1 pseudogene Neighboring gene small Cajal body-specific RNA 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1142 Neighboring gene endosome-lysosome associated apoptosis and autophagy regulator 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1436 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:109739959-109741158 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1437 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:109767996-109768680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:109768681-109769365 Neighboring gene seryl-tRNA synthetase 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:109772336-109773132 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:109773133-109773930 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:109779623-109780822

    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. Intravenous Administration of an AAV9 Vector Ubiquitously Expressing C1orf194 Gene Improved CMT-Like Neuropathy in C1orf194(-/-) Mice. Shen Z, et al. Neurotherapeutics, 2023 Oct. PMID 37843769, Free PMC Article
    2. C1orf194 deficiency leads to incomplete early embryonic lethality and dominant intermediate Charcot-Marie-Tooth disease in a knockout mouse model. Huang C, et al. Hum Mol Genet, 2020 Aug 29. PMID 32592472
    3. Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease. Sun SC, et al. Brain, 2019 Aug 1. PMID 31199454
    4. 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
    5. Creation of genome-wide protein expression libraries using random activation of gene expression. Harrington JJ, et al. Nat Biotechnol, 2001 May. PMID 11329013

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. C1orf194 deficiency leads to incomplete early embryonic lethality and dominant intermediate Charcot-Marie-Tooth disease in a knockout mouse model.
      Title: C1orf194 deficiency leads to incomplete early embryonic lethality and dominant intermediate Charcot-Marie-Tooth disease in a knockout mouse model.
    2. the identification of two heterozygous missense mutations in the C1orf194 gene at 1p21.2-p13.2 with Charcot-Marie-Tooth disease are reported
      Title: Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    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 
    located_in axonemal microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoskeleton 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 276
    Names
    protein C1orf194
    protein CFAP276
    uncharacterized protein C1orf194

    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_001122961.3 → NP_001116433.1  cilia- and flagella-associated protein 276 isoform 3

      See identical proteins and their annotated locations for NP_001116433.1

      Status: VALIDATED

      Source sequence(s)
      AL138933, AL356488, BC127905, BG196327, BG772797
      Consensus CDS
      CCDS41364.1
      UniProtKB/Swiss-Prot
      Q5T5A4
      Related
      ENSP00000358965.4, ENST00000369949.8
      Conserved Domains (1) summary
      pfam12494
      Location:23 → 115
      DUF3695; Protein of unknown function (DUF3695)

    2. NM_001245025.3 → NP_001231954.1  cilia- and flagella-associated protein 276 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL138933, AL356488
      Consensus CDS
      CCDS91016.1
      UniProtKB/Swiss-Prot
      Q5T5A3, Q5T5A4
      Related
      ENSP00000358964.3, ENST00000369948.8
      Conserved Domains (1) summary
      pfam12494
      Location:35 → 127
      DUF3695; Protein of unknown function (DUF3695)

    3. NM_001366200.3 → NP_001353129.1  cilia- and flagella-associated protein 276 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL138933, AL356488
      Conserved Domains (1) summary
      pfam12494
      Location:33 → 125
      DUF3695; Protein of unknown function (DUF3695)

    4. NM_001366201.3 → NP_001353130.1  cilia- and flagella-associated protein 276 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL138933, AL356488
      Consensus CDS
      CCDS91015.1
      UniProtKB/TrEMBL
      B1ALJ5
      Related
      ENSP00000358961.3, ENST00000369945.7
      Conserved Domains (1) summary
      pfam12494
      Location:24 → 88
      DUF3695; Protein of unknown function (DUF3695)

    5. NM_001366202.3 → NP_001353131.1  cilia- and flagella-associated protein 276 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL138933, AL356488
      Conserved Domains (1) summary
      pfam12494
      Location:6 → 76
      DUF3695; Protein of unknown function (DUF3695)

    RNA

    1. NR_158762.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL138933, AL356488
      Related
      ENST00000462402.5

    2. NR_158763.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL138933, AL356488
      Related
      ENST00000460065.2

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      109105951..109113831 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540647.3 → XP_011538949.2  cilia- and flagella-associated protein 276 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      109138817..109146691 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334309.1 → XP_054190284.1  cilia- and flagella-associated protein 276 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5T5A4.1 GenPept UniProtKB/Swiss-Prot:Q5T5A4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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