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

Gene ID: 220004, updated on 7-Apr-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. Located in ciliary basal body. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 29.1) and lung (RPKM 2.8) See more
Orthologs
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Genomic context

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Location:
11q12.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (61481120..61490928)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (61470007..61479841)
105.20220307 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 (18) 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)

Genotypes

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 
Component Evidence Code Pubs
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
  

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_2023_10

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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