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    CFAP97D1 CFAP97 domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 284067, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CFAP97D1provided by HGNC
    Official Full Name
    CFAP97 domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:37241
    See related
    Ensembl:ENSG00000231256 MIM:619866; AllianceGenome:HGNC:37241
    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
    C17orf105
    Summary
    Predicted to be involved in sperm axoneme assembly. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Restricted expression toward testis (RPKM 11.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See CFAP97D1 in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (43780435..43787620)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (44632979..44640164)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (41857803..41864988)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr17:41831689-41831891 Neighboring gene Sharpr-MPRA regulatory region 3915 Neighboring gene sclerostin Neighboring gene dual specificity phosphatase 3 Neighboring gene Sharpr-MPRA regulatory region 13819 Neighboring gene MAGUK p55 scaffold protein 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8568 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8569 Neighboring gene uncharacterized LOC107984979

    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. Cfap97d1 is important for flagellar axoneme maintenance and male mouse fertility. Oura S, et al. PLoS Genet, 2020 Aug. PMID 32785227, Free PMC Article
    2. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. Aregger M, et al. Nat Metab, 2020 Jun. PMID 32694731, Free PMC Article
    3. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
    4. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (8) 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

    • FLJ43829

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in sperm axoneme assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sperm axoneme assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    sperm axonemal maintenance protein CFAP97D1
    Names
    CFAP97 domain-containing protein 1
    uncharacterized protein C17orf105

    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_001136483.3 → NP_001129955.1  sperm axonemal maintenance protein CFAP97D1 isoform 1

      See identical proteins and their annotated locations for NP_001129955.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the predominant isoform (1).
      Source sequence(s)
      AC003098, BC070324
      Consensus CDS
      CCDS45695.1
      UniProtKB/Swiss-Prot
      B2RV13
      Related
      ENSP00000415662.2, ENST00000449302.8
      Conserved Domains (1) summary
      pfam13879
      Location:35 → 129
      KIAA1430; KIAA1430 homolog

    2. NM_001353400.2 → NP_001340329.1  sperm axonemal maintenance protein CFAP97D1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate coding exon compared to variant 1, that causes a framshift. The resulting isoform (2) has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC003098
      Conserved Domains (1) summary
      pfam13879
      Location:35 → 99
      KIAA1430; KIAA1430 homolog

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      43780435..43787620
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      44632979..44640164
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    B2RV13.1 GenPept UniProtKB/Swiss-Prot:B2RV13

    Gene LinkOut

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

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