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

Gene ID: 127003, updated on 2-Nov-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, Nov 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 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

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