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    CFAP96 cilia and flagella associated protein 96 [ Homo sapiens (human) ]

    Gene ID: 441054, updated on 3-Apr-2024

    Summary

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    Official Symbol
    CFAP96provided by HGNC
    Official Full Name
    cilia and flagella associated protein 96provided by HGNC
    Primary source
    HGNC:HGNC:34346
    See related
    Ensembl:ENSG00000205129 AllianceGenome:HGNC:34346
    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
    C4orf47
    Summary
    Located in 9+0 non-motile cilium; centrosome; and cytoplasmic microtubule. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis (RPKM 3.0), thyroid (RPKM 0.8) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    4q35.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (185408434..185449826)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (188748560..188793104)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (186347408..186370980)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene sorting nexin 25 Neighboring gene uncharacterized LOC124900827 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22258 Neighboring gene LRP2 binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15855 Neighboring gene ankyrin repeat domain 37 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22260 Neighboring gene UFM1 specific peptidase 2 Neighboring gene Sharpr-MPRA regulatory region 8879 Neighboring gene coiled-coil domain containing 110 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15856 Neighboring gene uncharacterized LOC105377590 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:186401399-186401900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:186423455-186423954 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:186434842-186436041 Neighboring gene PDZ and LIM domain 3

    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. C4orf47 Contributes to the Induction of Stem-like Properties in Gallbladder Cancer Under Hypoxia. Na L, et al. Anticancer Res, 2023 May. PMID 37097647
    2. Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes. Castelo R, et al. Nucleic Acids Res, 2005. PMID 15809229, Free PMC Article
    3. Proteomic analysis of mammalian sperm cells identifies new components of the centrosome. Firat-Karalar EN, et al. J Cell Sci, 2014 Oct 1. PMID 25074808, Free PMC Article
    4. Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways. Sigg MA, et al. Dev Cell, 2017 Dec 18. PMID 29257953, 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 (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. C4orf47 Contributes to the Induction of Stem-like Properties in Gallbladder Cancer Under Hypoxia.
      Title: C4orf47 Contributes to the Induction of Stem-like Properties in Gallbladder Cancer Under Hypoxia.
    2. 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

    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

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in 9+0 non-motile cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cilia-and flagella-associated protein 96
    Names
    UPF0602 protein C4orf47

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001114357.3 → NP_001107829.1  cilia-and flagella-associated protein 96 isoform 1

      See identical proteins and their annotated locations for NP_001107829.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC106897
      Consensus CDS
      CCDS47169.1
      UniProtKB/Swiss-Prot
      A7E2U8, Q5BLP7
      Related
      ENSP00000368127.4, ENST00000378850.5
      Conserved Domains (1) summary
      pfam15239
      Location:10 → 293
      DUF4586; Domain of unknown function (DUF4586)

    2. NM_001346007.2 → NP_001332936.1  cilia-and flagella-associated protein 96 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, uses an alternate translation start site, and lacks two alternate exons in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC106897

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      185408434..185449826
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008239.2 → XP_016863728.1  cilia-and flagella-associated protein 96 isoform X1

      UniProtKB/Swiss-Prot
      A7E2U8, Q5BLP7
      Conserved Domains (1) summary
      pfam15239
      Location:10 → 293
      DUF4586; Domain of unknown function (DUF4586)

    2. XM_017008238.2 → XP_016863727.1  cilia-and flagella-associated protein 96 isoform X1

      UniProtKB/Swiss-Prot
      A7E2U8, Q5BLP7
      Conserved Domains (1) summary
      pfam15239
      Location:10 → 293
      DUF4586; Domain of unknown function (DUF4586)

    3. XM_017008240.2 → XP_016863729.1  cilia-and flagella-associated protein 96 isoform X1

      UniProtKB/Swiss-Prot
      A7E2U8, Q5BLP7
      Conserved Domains (1) summary
      pfam15239
      Location:10 → 293
      DUF4586; Domain of unknown function (DUF4586)

    4. XM_011531989.3 → XP_011530291.1  cilia-and flagella-associated protein 96 isoform X1

      See identical proteins and their annotated locations for XP_011530291.1

      UniProtKB/Swiss-Prot
      A7E2U8, Q5BLP7
      Conserved Domains (1) summary
      pfam15239
      Location:10 → 293
      DUF4586; Domain of unknown function (DUF4586)

    5. XM_047415721.1 → XP_047271677.1  cilia-and flagella-associated protein 96 isoform X2

    6. XM_047415719.1 → XP_047271675.1  cilia-and flagella-associated protein 96 isoform X1

      UniProtKB/Swiss-Prot
      A7E2U8, Q5BLP7

    7. XM_047415718.1 → XP_047271674.1  cilia-and flagella-associated protein 96 isoform X1

      UniProtKB/Swiss-Prot
      A7E2U8, Q5BLP7

    8. XM_047415720.1 → XP_047271676.1  cilia-and flagella-associated protein 96 isoform X2

    9. XM_047415722.1 → XP_047271678.1  cilia-and flagella-associated protein 96 isoform X3

      Related
      ENSP00000422279.1, ENST00000511138.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      188748560..188793104
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350081.1 → XP_054206056.1  cilia-and flagella-associated protein 96 isoform X1

    2. XM_054350086.1 → XP_054206061.1  cilia-and flagella-associated protein 96 isoform X2

    3. XM_054350085.1 → XP_054206060.1  cilia-and flagella-associated protein 96 isoform X2

    4. XM_054350082.1 → XP_054206057.1  cilia-and flagella-associated protein 96 isoform X1

    5. XM_054350084.1 → XP_054206059.1  cilia-and flagella-associated protein 96 isoform X1

    6. XM_054350083.1 → XP_054206058.1  cilia-and flagella-associated protein 96 isoform X1

    7. XM_054350080.1 → XP_054206055.1  cilia-and flagella-associated protein 96 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A7E2U8.1 GenPept UniProtKB/Swiss-Prot:A7E2U8

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