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    SAXO4 stabilizer of axonemal microtubules 4 [ Homo sapiens (human) ]

    Gene ID: 220004, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SAXO4provided by HGNC
    Official Full Name
    stabilizer of axonemal microtubules 4provided by HGNC
    Primary source
    HGNC:HGNC:28869
    See related
    Ensembl:ENSG00000162148 MIM:619047; AllianceGenome:HGNC:28869
    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
    IIIG9; PPP1R32; C11orf66
    Summary
    Enables phosphatase binding activity. Predicted to be involved in flagellated sperm motility. Located in ciliary basal body. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 29.1) and lung (RPKM 2.8) See more
    Orthologs
    mouse all
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    Genomic context

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    See SAXO4 in Genome Data Viewer
    Location:
    11q12.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (61481120..61490928)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (61470007..61479841)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (61248592..61258400)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene cleavage and polyadenylation specific factor 7 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61196662-61197310 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:61197385-61197720 Neighboring gene succinate dehydrogenase complex assembly factor 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:61213814-61214561 Neighboring gene RNA, 7SL, cytoplasmic 23, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr11:61225919-61226100 Neighboring gene Sharpr-MPRA regulatory region 8840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61253575-61254394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61255818-61256485 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61256486-61257152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:61261837-61262435 Neighboring gene uncharacterized LOC105369329 Neighboring gene MPRA-validated peak1286 silencer Neighboring gene microRNA 4488

    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. Is IIIG9 a New Protein with Exclusive Ciliary Function? Analysis of Its Potential Role in Cancer and Other Pathologies. Oviedo MJ, et al. Cells, 2022 Oct 21. PMID 36291193, Free PMC Article
    2. Expression of a Novel Ciliary Protein, IIIG9, During the Differentiation and Maturation of Ependymal Cells. Cifuentes M, et al. Mol Neurobiol, 2018 Feb. PMID 28194645
    3. A novel mRNA expressed along brain ventricles. Danielson PE, et al. Brain Res Gene Expr Patterns, 2002 Jan. PMID 15018803
    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. Identification of the human testis protein phosphatase 1 interactome. Fardilha M, et al. Biochem Pharmacol, 2011 Nov 15. PMID 21382349

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Is IIIG9 a New Protein with Exclusive Ciliary Function? Analysis of Its Potential Role in Cancer and Other Pathologies.
      Title: Is IIIG9 a New Protein with Exclusive Ciliary Function? Analysis of Its Potential Role in Cancer and Other Pathologies.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Potential readthrough

    Included gene: SDHAF2

    Homology

    Clone Names

    • FLJ32771

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in axonemal A tubule inner sheath ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    stabilizer of axonemal microtubules 4
    Names
    protein phosphatase 1 regulatory subunit 32

    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_001170753.2 → NP_001164224.1  stabilizer of axonemal microtubules 4 isoform 2

      See identical proteins and their annotated locations for NP_001164224.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      BC043246, BC053995
      Consensus CDS
      CCDS53641.1
      UniProtKB/Swiss-Prot
      Q7Z5V6
      Related
      ENSP00000391560.2, ENST00000432063.6
      Conserved Domains (1) summary
      pfam15691
      Location:2 → 396
      PPP1R32; Protein phosphatase 1 regulatory subunit 32

    2. NM_145017.3 → NP_659454.2  stabilizer of axonemal microtubules 4 isoform 1

      See identical proteins and their annotated locations for NP_659454.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC053995, BI561157
      Consensus CDS
      CCDS8008.1
      UniProtKB/Swiss-Prot
      Q4G0P4, Q7Z5V6, Q96M77
      UniProtKB/TrEMBL
      G3F4G3
      Related
      ENSP00000344140.2, ENST00000338608.7
      Conserved Domains (1) summary
      pfam15691
      Location:2 → 416
      PPP1R32; Protein phosphatase 1 regulatory subunit 32

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      61481120..61490928
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      61470007..61479841
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z5V6.1 GenPept UniProtKB/Swiss-Prot:Q7Z5V6

    Gene LinkOut

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

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