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    SAXO1 stabilizer of axonemal microtubules 1 [ Homo sapiens (human) ]

    Gene ID: 158297, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SAXO1provided by HGNC
    Official Full Name
    stabilizer of axonemal microtubules 1provided by HGNC
    Primary source
    HGNC:HGNC:28566
    See related
    Ensembl:ENSG00000155875 MIM:616292; AllianceGenome:HGNC:28566
    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
    FAM154A; C9orf138
    Summary
    Enables microtubule binding activity. Involved in several processes, including cold acclimation; positive regulation of cilium assembly; and protein stabilization. Located in microtubule cytoskeleton and sperm flagellum. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 15.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See SAXO1 in Genome Data Viewer
    Location:
    9p22.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (18927650..19049339, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (18940631..19062204, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (18927648..19049337, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ADAMTS like 1 Neighboring gene uncharacterized LOC124902127 Neighboring gene uncharacterized LOC105375985 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:19032529-19033082 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:19033083-19033636 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:19049365-19049886 Neighboring gene proteasome 26S subunit, ATPase 3 pseudogene 1 Neighboring gene small Cajal body-specific RNA 8 Neighboring gene Ras related GTP binding A Neighboring gene HAUS augmin like complex subunit 6

    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. Human FAM154A (SAXO1) is a microtubule-stabilizing protein specific to cilia and related structures. Dacheux D, et al. J Cell Sci, 2015 Apr 1. PMID 25673876
    2. Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study. Lee Y, et al. Carcinogenesis, 2013 Feb. PMID 23144319
    3. Protein interactions of the transcription factor Hoxa1. Lambert B, et al. BMC Dev Biol, 2012 Oct 22. PMID 23088713, Free PMC Article
    4. Systematic interactome mapping of acute lymphoblastic leukemia cancer gene products reveals EXT-1 tumor suppressor as a Notch1 and FBWX7 common interactor. Daakour S, et al. BMC Cancer, 2016 May 26. PMID 27229929, Free PMC Article
    5. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SAXO1 binds specifically to centriole and cilium microtubules.
      Title: Human FAM154A (SAXO1) is a microtubule-stabilizing protein specific to cilia and related structures.
    2. Single-nucleotide polymorphisms in FAM154A is associiated with non-small cell lung cancer.
      Title: Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    EBI GWAS Catalog

    Description
    Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.
    EBI GWAS Catalog

    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

    • FLJ35283, MGC35182

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microtubule 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 cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to cold IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cold acclimation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein stabilization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in axonemal microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in axonemal microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in motile cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in sperm flagellum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    stabilizer of axonemal microtubules 1
    Names
    4930500O09Rik
    family with sequence similarity 154, member A
    protein FAM154A

    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_001287049.2 → NP_001273978.1  stabilizer of axonemal microtubules 1 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon and it thus differs in the 5' UTR and initiates translation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AI808568, AL158150, AW079914, BC033489, BM563230, DB236904
      Consensus CDS
      CCDS75819.1
      UniProtKB/TrEMBL
      F6S232
      Related
      ENSP00000438823.2, ENST00000542071.2
      Conserved Domains (1) summary
      pfam05217
      Location:23 → 180
      STOP; STOP protein

    2. NM_001287050.2 → NP_001273979.1  stabilizer of axonemal microtubules 1 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon that results in early translation termination, compared to variant 1. The encoded isoform (c) is significantly shorter at the C-terminus, compared to isoform a.
      Source sequence(s)
      AI808568, AK057474, AL158150, AW079914, BC033489, DB035807
      Consensus CDS
      CCDS75820.1
      UniProtKB/TrEMBL
      A6NF52, Q5VZT6
      Related
      ENSP00000369902.1, ENST00000380530.1
      Conserved Domains (1) summary
      pfam05217
      Location:4 → 65
      STOP; STOP protein

    3. NM_153707.4 → NP_714918.2  stabilizer of axonemal microtubules 1 isoform a

      See identical proteins and their annotated locations for NP_714918.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AI808568, AL158150, AW079914, BC033489, DB035807
      Consensus CDS
      CCDS6487.1
      UniProtKB/Swiss-Prot
      A8K880, Q5VY58, Q8IYX7
      Related
      ENSP00000369907.4, ENST00000380534.9
      Conserved Domains (1) summary
      pfam05217
      Location:4 → 216
      STOP; STOP protein

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      18927650..19049339 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024447428.2 → XP_024303196.1  stabilizer of axonemal microtubules 1 isoform X4

    2. XM_011517745.3 → XP_011516047.1  stabilizer of axonemal microtubules 1 isoform X4

      See identical proteins and their annotated locations for XP_011516047.1

      Conserved Domains (1) summary
      pfam05217
      Location:93 → 250
      STOP; STOP protein

    3. XM_017014315.3 → XP_016869804.1  stabilizer of axonemal microtubules 1 isoform X2

      UniProtKB/TrEMBL
      F6S232
      Conserved Domains (1) summary
      pfam05217
      Location:23 → 180
      STOP; STOP protein

    4. XM_011517744.2 → XP_011516046.1  stabilizer of axonemal microtubules 1 isoform X3

      Conserved Domains (1) summary
      pfam05217
      Location:112 → 269
      STOP; STOP protein

    5. XM_011517746.3 → XP_011516048.1  stabilizer of axonemal microtubules 1 isoform X4

      See identical proteins and their annotated locations for XP_011516048.1

      Conserved Domains (1) summary
      pfam05217
      Location:93 → 250
      STOP; STOP protein

    6. XM_047422843.1 → XP_047278799.1  stabilizer of axonemal microtubules 1 isoform X4

    7. XM_011517747.3 → XP_011516049.1  stabilizer of axonemal microtubules 1 isoform X1

      Conserved Domains (1) summary
      pfam05217
      Location:26 → 183
      STOP; STOP protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      18940631..19062204 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362108.1 → XP_054218083.1  stabilizer of axonemal microtubules 1 isoform X2

      UniProtKB/TrEMBL
      F6S232

    2. XM_054362106.1 → XP_054218081.1  stabilizer of axonemal microtubules 1 isoform X5

    3. XM_054362107.1 → XP_054218082.1  stabilizer of axonemal microtubules 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IYX7.2 GenPept UniProtKB/Swiss-Prot:Q8IYX7

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