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

Gene ID: 158297, updated on 27-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
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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
  • 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)

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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