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CFAP68 cilia and flagella associated protein 68 [ Homo sapiens (human) ]

Gene ID: 64776, updated on 2-Nov-2024

Summary

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Official Symbol
CFAP68provided by HGNC
Official Full Name
cilia and flagella associated protein 68provided by HGNC
Primary source
HGNC:HGNC:1163
See related
Ensembl:ENSG00000137720 AllianceGenome:HGNC:1163
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
C11orf1
Summary
Predicted to be involved in flagellated sperm motility. Located in axoneme and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in testis (RPKM 18.8), kidney (RPKM 14.0) and 25 other tissues See more
Orthologs
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Genomic context

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See CFAP68 in Genome Data Viewer
Location:
11q23.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (111879541..111885975)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (111889784..111896218)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (111750265..111756699)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ALG9 alpha-1,2-mannosyltransferase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3902 Neighboring gene G protein subunit gamma 5 pseudogene 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:111749557-111750176 Neighboring gene ferredoxin-fold anticodon binding domain containing 1 Neighboring gene ribosomal protein L37a pseudogene 8 Neighboring gene HSPB2-C11orf52 readthrough (NMD candidate) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:111784209-111784862 Neighboring gene crystallin alpha B Neighboring gene heat shock protein family B (small) member 2

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. Characterization of five novel human genes in the 11q13-q22 region. O'Brien KP, et al. Biochem Biophys Res Commun, 2000 Jun 24. PMID 10873569
  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. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
  4. Transcriptome analysis of human gastric cancer. Oh JH, et al. Mamm Genome, 2005 Dec. PMID 16341674
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

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)

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

  • FLJ23499

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in flagellated sperm motility ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in axonemal A tubule inner sheath ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in axoneme IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
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 68
Names
UPF0686 protein C11orf1

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_001330371.2 → NP_001317300.1  cilia- and flagella-associated protein 68 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AJ250229, AP001781, BM828345
    Consensus CDS
    CCDS81625.1
    UniProtKB/TrEMBL
    E9PS93
    Related
    ENSP00000435864.1, ENST00000530214.5

  2. NM_022761.3 → NP_073598.1  cilia- and flagella-associated protein 68 isoform 1

    See identical proteins and their annotated locations for NP_073598.1

    Status: VALIDATED

    Source sequence(s)
    AP001781
    Consensus CDS
    CCDS8350.1
    UniProtKB/Swiss-Prot
    Q6I9X7, Q9H5F2, Q9NQC6
    Related
    ENSP00000260276.3, ENST00000260276.8
    Conserved Domains (1) summary
    pfam06608
    Location:2 → 149
    DUF1143; Protein of unknown function (DUF1143)

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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    111879541..111885975
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542957.4 → XP_011541259.1  cilia- and flagella-associated protein 68 isoform X1

    UniProtKB/TrEMBL
    E9PMC1
    Related
    ENSP00000432128.1, ENST00000530799.5
    Conserved Domains (1) summary
    pfam06608
    Location:32 → 165
    DUF1143; Protein of unknown function (DUF1143)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    111889784..111896218
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054369646.1 → XP_054225621.1  cilia- and flagella-associated protein 68 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H5F2.1 GenPept UniProtKB/Swiss-Prot:Q9H5F2

Gene LinkOut

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

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