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    CFAP97 cilia and flagella associated protein 97 [ Homo sapiens (human) ]

    Gene ID: 57587, updated on 5-May-2024

    Summary

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    Official Symbol
    CFAP97provided by HGNC
    Official Full Name
    cilia and flagella associated protein 97provided by HGNC
    Primary source
    HGNC:HGNC:29276
    See related
    Ensembl:ENSG00000164323 MIM:616047; AllianceGenome:HGNC:29276
    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
    hmw; KIAA1430
    Expression
    Ubiquitous expression in testis (RPKM 18.7), thyroid (RPKM 14.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CFAP97 in Genome Data Viewer
    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 (185159665..185210248, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (188503345..188553963, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (186080819..186125154, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2436 Neighboring gene uncharacterized LOC105377588 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:186030634-186031272 Neighboring gene Sharpr-MPRA regulatory region 4736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22246 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22247 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:186049861-186050404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15847 Neighboring gene solute carrier family 25 member 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:186125066-186125237 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22249 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15849 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15851 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22250 Neighboring gene sorting nexin 25 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:186160877-186161869 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:186161870-186162861 Neighboring gene NANOG hESC enhancer GRCh37_chr4:186187032-186187533 Neighboring gene Sharpr-MPRA regulatory region 940 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:186223282-186223782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22253 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:186227325-186227825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22255 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22256 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:186239748-186240413 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

    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. hemingway is required for sperm flagella assembly and ciliary motility in Drosophila. Soulavie F, et al. Mol Biol Cell, 2014 Apr. PMID 24554765, Free PMC Article
    2. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Feb 28. PMID 10718198
    3. A central chaperone-like role for 14-3-3 proteins in human cells. Segal D, et al. Mol Cell, 2023 Mar 16. PMID 36931259
    4. The human cytoplasmic dynein interactome reveals novel activators of motility. Redwine WB, et al. Elife, 2017 Jul 18. PMID 28718761, Free PMC Article
    5. Multiplexed kinase interactome profiling quantifies cellular network activity and plasticity. Golkowski M, et al. Mol Cell, 2023 Mar 2. PMID 36736316, Free PMC Article

    See all (18) 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

    • FLJ21225, KIAA1430, DKFZp434F1728

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in spermatogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    cilia- and flagella-associated protein 97

    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_001292033.2 → NP_001278962.1  cilia- and flagella-associated protein 97 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes an alternate 3' terminal exon, compared to variant 1, resulting in a novel 3' coding region and 3' UTR. It encodes isoform 2 which has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC093592, AK091993, BC030535, BM729997
      Consensus CDS
      CCDS75216.1
      UniProtKB/Swiss-Prot
      Q9P2B7
      Related
      ENSP00000423312.1, ENST00000514798.1
      Conserved Domains (1) summary
      pfam13879
      Location:345 → 442
      KIAA1430; KIAA1430 homologue

    2. NM_020827.3 → NP_065878.1  cilia- and flagella-associated protein 97 isoform 1

      See identical proteins and their annotated locations for NP_065878.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC093592, AK091993, AL133615, BC030535
      Consensus CDS
      CCDS47168.1
      UniProtKB/Swiss-Prot
      B3KRP7, D3DP60, Q05CU1, Q4W5M4, Q8N6E7, Q9P2B7, Q9UF45
      Related
      ENSP00000409964.2, ENST00000458385.7
      Conserved Domains (1) summary
      pfam13879
      Location:346 → 447
      KIAA1430; KIAA1430 homolog

    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
      185159665..185210248 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416016.1 → XP_047271972.1  cilia- and flagella-associated protein 97 isoform X1

      UniProtKB/Swiss-Prot
      B3KRP7, D3DP60, Q05CU1, Q4W5M4, Q8N6E7, Q9P2B7, Q9UF45

    2. XM_047416015.1 → XP_047271971.1  cilia- and flagella-associated protein 97 isoform X1

      UniProtKB/Swiss-Prot
      B3KRP7, D3DP60, Q05CU1, Q4W5M4, Q8N6E7, Q9P2B7, Q9UF45

    3. XM_017008483.3 → XP_016863972.1  cilia- and flagella-associated protein 97 isoform X1

      UniProtKB/Swiss-Prot
      B3KRP7, D3DP60, Q05CU1, Q4W5M4, Q8N6E7, Q9P2B7, Q9UF45
      Conserved Domains (1) summary
      pfam13879
      Location:346 → 447
      KIAA1430; KIAA1430 homolog

    4. XM_017008486.3 → XP_016863975.1  cilia- and flagella-associated protein 97 isoform X1

      UniProtKB/Swiss-Prot
      B3KRP7, D3DP60, Q05CU1, Q4W5M4, Q8N6E7, Q9P2B7, Q9UF45
      Conserved Domains (1) summary
      pfam13879
      Location:346 → 447
      KIAA1430; KIAA1430 homolog

    5. XM_017008484.3 → XP_016863973.1  cilia- and flagella-associated protein 97 isoform X1

      UniProtKB/Swiss-Prot
      B3KRP7, D3DP60, Q05CU1, Q4W5M4, Q8N6E7, Q9P2B7, Q9UF45
      Conserved Domains (1) summary
      pfam13879
      Location:346 → 447
      KIAA1430; KIAA1430 homolog

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      188503345..188553963 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350602.1 → XP_054206577.1  cilia- and flagella-associated protein 97 isoform X1

    2. XM_054350599.1 → XP_054206574.1  cilia- and flagella-associated protein 97 isoform X1

    3. XM_054350598.1 → XP_054206573.1  cilia- and flagella-associated protein 97 isoform X1

    4. XM_054350600.1 → XP_054206575.1  cilia- and flagella-associated protein 97 isoform X1

    5. XM_054350601.1 → XP_054206576.1  cilia- and flagella-associated protein 97 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2B7.2 GenPept UniProtKB/Swiss-Prot:Q9P2B7

    Gene LinkOut

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

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