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

    Gene ID: 441054, updated on 2-Nov-2024

    Summary

    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, Nov 2024]
    Expression
    Biased expression in testis (RPKM 3.0), thyroid (RPKM 0.8) and 5 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CFAP96 in Genome Data Viewer
    Location:
    4q35.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (185408434..185449826)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (188748560..188793104)
    RS_2024_09 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

    Expression

    • 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

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in 9+0 non-motile cilium PubMed 
    is_active_in centrosome  
    located_in centrosome PubMed 
    is_active_in cytoplasmic microtubule  
    located_in cytoplasmic microtubule PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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_001114357.3NP_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:10293
      DUF4586; Domain of unknown function (DUF4586)
    2. NM_001346007.2NP_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_2024_08

    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_017008239.2XP_016863728.1  cilia-and flagella-associated protein 96 isoform X1

      UniProtKB/Swiss-Prot
      A7E2U8, Q5BLP7
      Conserved Domains (1) summary
      pfam15239
      Location:10293
      DUF4586; Domain of unknown function (DUF4586)
    2. XM_017008238.2XP_016863727.1  cilia-and flagella-associated protein 96 isoform X1

      UniProtKB/Swiss-Prot
      A7E2U8, Q5BLP7
      Conserved Domains (1) summary
      pfam15239
      Location:10293
      DUF4586; Domain of unknown function (DUF4586)
    3. XM_017008240.2XP_016863729.1  cilia-and flagella-associated protein 96 isoform X1

      UniProtKB/Swiss-Prot
      A7E2U8, Q5BLP7
      Conserved Domains (1) summary
      pfam15239
      Location:10293
      DUF4586; Domain of unknown function (DUF4586)
    4. XM_011531989.3XP_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:10293
      DUF4586; Domain of unknown function (DUF4586)
    5. XM_047415721.1XP_047271677.1  cilia-and flagella-associated protein 96 isoform X2

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

      UniProtKB/Swiss-Prot
      A7E2U8, Q5BLP7
    7. XM_047415718.1XP_047271674.1  cilia-and flagella-associated protein 96 isoform X1

      UniProtKB/Swiss-Prot
      A7E2U8, Q5BLP7
    8. XM_047415720.1XP_047271676.1  cilia-and flagella-associated protein 96 isoform X2

    9. XM_047415722.1XP_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_054350081.1XP_054206056.1  cilia-and flagella-associated protein 96 isoform X1

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

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

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

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

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

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

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