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Aliases for SAXO1 Gene

Aliases for SAXO1 Gene

  • Stabilizer Of Axonemal Microtubules 1 2 3 5
  • Family With Sequence Similarity 154, Member A 2 3
  • C9orf138 3 4
  • FAM154A 3 4
  • Chromosome 9 Open Reading Frame 138 2
  • Protein FAM154A 3
  • 4930500O09Rik 3

External Ids for SAXO1 Gene

Previous HGNC Symbols for SAXO1 Gene

  • C9orf138
  • FAM154A

Summaries for SAXO1 Gene

GeneCards Summary for SAXO1 Gene

SAXO1 (Stabilizer Of Axonemal Microtubules 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include microtubule binding. An important paralog of this gene is SAXO2.

UniProtKB/Swiss-Prot for SAXO1 Gene

  • May play a role in the regulation of cilium length. Stabilizes microtubules at low temperature.

Additional gene information for SAXO1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SAXO1 Gene

Genomics for SAXO1 Gene

GeneHancer (GH) Regulatory Elements for SAXO1 Gene

Promoters and enhancers for SAXO1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I019048 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 -0.3 -305 3.1 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B PIR46202 RRAGA SAXO1 HAUS6
GH09I019013 Promoter 0.9 EPDnew 550.3 +36.1 36139 0.1 ZNF335 CTCF ZNF654 ZNF362 GLIS1 SMC3 CEBPB PRDM10 ZBTB17 SAXO1 PSMC3P1 PIR34932
GH09I019033 Promoter 0.5 EPDnew 550.4 +16.0 16003 0.1 SAXO1 HAUS6 GC09M019028 PIR34207
GH09I019034 Promoter 0.5 EPDnew 550.4 +16.2 16164 0.1 SAXO1 PIR34207 GC09M019028
GH09I019150 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -103.8 -103797 5.5 FOXA2 MLX ARNT ZFP64 ARID4B DMAP1 YY1 SLC30A9 ZNF766 E2F8 RRAGA HAUS6 SAXO1 PSMC3P1 PLIN2 RPS6P10
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SAXO1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SAXO1 Gene

Genomic Locations for SAXO1 Gene
chr9:18,927,658-19,049,354
(GRCh38/hg38)
Size:
121,697 bases
Orientation:
Minus strand
chr9:18,927,656-19,033,256
(GRCh37/hg19)

Genomic View for SAXO1 Gene

Genes around SAXO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SAXO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SAXO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SAXO1 Gene

Proteins for SAXO1 Gene

  • Protein details for SAXO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IYX7-SAXO1_HUMAN
    Recommended name:
    Stabilizer of axonemal microtubules 1
    Protein Accession:
    Q8IYX7
    Secondary Accessions:
    • A8K880
    • Q5VY58

    Protein attributes for SAXO1 Gene

    Size:
    474 amino acids
    Molecular mass:
    54621 Da
    Quaternary structure:
    • Associates with microtubules via the Mn regions.

neXtProt entry for SAXO1 Gene

Post-translational modifications for SAXO1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for SAXO1 Gene

Domains & Families for SAXO1 Gene

Gene Families for SAXO1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SAXO1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SAXO1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IYX7

UniProtKB/Swiss-Prot:

SAXO1_HUMAN :
  • The Mn regions are involved in microtubule-binding and stabilization at low temperature. They are required and sufficient for cilium targeting.
  • Belongs to the FAM154 family.
Domain:
  • The Mn regions are involved in microtubule-binding and stabilization at low temperature. They are required and sufficient for cilium targeting.
  • The N-terminal region (residues 1-29) might play a role in centriole retention.
Family:
  • Belongs to the FAM154 family.
genes like me logo Genes that share domains with SAXO1: view

Function for SAXO1 Gene

Molecular function for SAXO1 Gene

UniProtKB/Swiss-Prot Function:
May play a role in the regulation of cilium length. Stabilizes microtubules at low temperature.

Phenotypes From GWAS Catalog for SAXO1 Gene

Gene Ontology (GO) - Molecular Function for SAXO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23088713
GO:0008017 microtubule binding IEA,IDA 25673876
genes like me logo Genes that share ontologies with SAXO1: view
genes like me logo Genes that share phenotypes with SAXO1: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SAXO1 Gene

Localization for SAXO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SAXO1 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, flagellum axoneme. Note=In multi-ciliated cells, localizes to the basal bodies and in non-ciliated cells, to the centrosome. In spermatozoa, colocalizes with microtubules along the length of the axoneme from its proximal end to its distal tip and with tubulin at the distal end of the flagellum and at the proximal centriole. {ECO:0000269 PubMed:25673876}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SAXO1 gene
Compartment Confidence
cytoskeleton 5
extracellular 2
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for SAXO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005814 centriole IDA,IEA 25673876
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IEA --
GO:0005879 axonemal microtubule IDA 25673876
genes like me logo Genes that share ontologies with SAXO1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SAXO1 Gene

Pathways & Interactions for SAXO1 Gene

SuperPathways for SAXO1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SAXO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009631 cold acclimation IDA 25673876
GO:0030030 cell projection organization IEA --
GO:0045724 positive regulation of cilium assembly IMP 25673876
GO:0050821 protein stabilization IDA 25673876
GO:0070417 cellular response to cold IDA 25673876
genes like me logo Genes that share ontologies with SAXO1: view

No data available for Pathways by source and SIGNOR curated interactions for SAXO1 Gene

Drugs & Compounds for SAXO1 Gene

No Compound Related Data Available

Transcripts for SAXO1 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SAXO1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7
SP1: - - -
SP2:
SP3: - - - -
SP4: - -

Relevant External Links for SAXO1 Gene

GeneLoc Exon Structure for
SAXO1
ECgene alternative splicing isoforms for
SAXO1

Expression for SAXO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SAXO1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SAXO1 Gene

This gene is overexpressed in Pancreas (59.2) and Testis (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SAXO1 Gene



Protein tissue co-expression partners for SAXO1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SAXO1 Gene:

SAXO1

mRNA Expression by UniProt/SwissProt for SAXO1 Gene:

Q8IYX7-SAXO1_HUMAN
Tissue specificity: Widely expressed, with highest levels in testis. Expressed in mature spermatozoa (at protein level).

Evidence on tissue expression from TISSUES for SAXO1 Gene

  • Nervous system(4.8)
  • Skin(3.4)
  • Lung(2.4)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with SAXO1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SAXO1 Gene

Orthologs for SAXO1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SAXO1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM154A 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAM154A 33 34
  • 86.92 (n)
cow
(Bos Taurus)
Mammalia FAM154A 33 34
  • 84.71 (n)
mouse
(Mus musculus)
Mammalia Fam154a 33 34
  • 76.39 (n)
Saxo1 16
rat
(Rattus norvegicus)
Mammalia Fam154a 33
  • 75.65 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM154A 34
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 47 (a)
ManyToMany
chicken
(Gallus gallus)
Aves FAM154A 33 34
  • 58.56 (n)
worm
(Caenorhabditis elegans)
Secernentea T08G11.3 33 34
  • 39.94 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 33 (a)
ManyToMany
-- 34
  • 26 (a)
ManyToMany
Species where no ortholog for SAXO1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for SAXO1 Gene

ENSEMBL:
Gene Tree for SAXO1 (if available)
TreeFam:
Gene Tree for SAXO1 (if available)

Paralogs for SAXO1 Gene

Paralogs for SAXO1 Gene

genes like me logo Genes that share paralogs with SAXO1: view

Variants for SAXO1 Gene

Sequence variations from dbSNP and Humsavar for SAXO1 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000005262 -- 18,963,011(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000025396 -- 18,934,071(-) A/G intron_variant
rs1000037680 -- 18,992,435(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000078931 -- 18,933,998(-) A/G intron_variant
rs1000093347 -- 18,996,518(-) T/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SAXO1 Gene

Variant ID Type Subtype PubMed ID
esv2342287 CNV deletion 18987734
esv2437751 CNV deletion 19546169
esv2658817 CNV deletion 23128226
esv2664528 CNV deletion 23128226
esv3544626 CNV deletion 23714750
esv3573163 CNV loss 25503493
esv3619882 CNV gain 21293372
esv3619887 CNV loss 21293372
esv3619888 CNV loss 21293372
esv3619889 CNV loss 21293372
nsv1022697 CNV loss 25217958
nsv1075196 CNV deletion 25765185
nsv1137427 CNV deletion 24896259
nsv1161845 CNV duplication 26073780
nsv466282 CNV loss 19166990
nsv471289 CNV loss 18288195
nsv510186 OTHER sequence alteration 20534489
nsv510187 OTHER sequence alteration 20534489
nsv519384 CNV loss 19592680
nsv519909 CNV loss 19592680
nsv525659 CNV gain 19592680
nsv526254 CNV loss 19592680
nsv613727 CNV loss 21841781

Variation tolerance for SAXO1 Gene

Residual Variation Intolerance Score: 97% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.06; 97.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SAXO1 Gene

Human Gene Mutation Database (HGMD)
SAXO1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SAXO1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SAXO1 Gene

Disorders for SAXO1 Gene

Additional Disease Information for SAXO1

No disorders were found for SAXO1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SAXO1 Gene

Publications for SAXO1 Gene

  1. Human FAM154A (SAXO1) is a microtubule-stabilizing protein specific to cilia and related structures. (PMID: 25673876) Dacheux D … Bonhivers M (Journal of cell science 2015) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X … Vidal M (Cell 2016) 3 58

Products for SAXO1 Gene

Sources for SAXO1 Gene

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