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    SAXO3 stabilizer of axonemal microtubules 3 [ Homo sapiens (human) ]

    Gene ID: 101059948, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SAXO3provided by HGNC
    Official Full Name
    stabilizer of axonemal microtubules 3provided by HGNC
    Primary source
    HGNC:HGNC:56771
    See related
    Ensembl:ENSG00000268655 AllianceGenome:HGNC:56771
    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
    Expression
    Biased expression in testis (RPKM 1.0), pancreas (RPKM 0.9) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SAXO3 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49017968..49020549, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52012741..52015325, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49521225..49523806, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49473581-49474108 Neighboring gene CRISPRi-FlowFISH-validated FTL regulatory element 4 Neighboring gene glycogen synthase 1 Neighboring gene Sharpr-MPRA regulatory region 1809 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14921 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:49491709-49491891 Neighboring gene skeletal muscle cis-regulatory module in GYS1 intron Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14922 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10910 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14923 Neighboring gene RuvB like AAA ATPase 2 Neighboring gene Sharpr-MPRA regulatory region 732 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49507585-49508084 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49512697-49513198 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:49515021-49515195 Neighboring gene microRNA 6798 Neighboring gene Sharpr-MPRA regulatory region 164 Neighboring gene uncharacterized LOC124904738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14924 Neighboring gene luteinizing hormone subunit beta Neighboring gene chorionic gonadotropin subunit beta 3 Neighboring gene neurotrophin 6 alpha (pseudogene)

    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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    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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)

    General gene information

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    Homology

    General protein information

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    Preferred Names
    stabilizer of axonemal microtubules 3
    Names
    CTB-60B18.10

    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_001396011.1 → NP_001382940.1  stabilizer of axonemal microtubules 3

      Status: VALIDATED

      Source sequence(s)
      AC008687
      Consensus CDS
      CCDS92661.1
      UniProtKB/Swiss-Prot
      A0A1B0GTJ6
      Related
      ENSP00000489727.1, ENST00000637680.2

    RNA

    1. NR_173107.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC008687

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      49017968..49020549 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      52012741..52015325 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_073552.1: Suppressed sequence

      Description
      NR_073552.1: This RefSeq was removed because it is now thought that this gene does encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A1B0GTJ6.1 GenPept UniProtKB/Swiss-Prot:A0A1B0GTJ6

    Gene LinkOut

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

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