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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. 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.

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

Genomics for SAXO1 Gene

Regulatory Elements for SAXO1 Gene

Enhancers for SAXO1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F018975 0.7 Ensembl ENCODE 12.4 +72.7 72703 1.7 PKNOX1 SIN3A FEZF1 GLI4 ZNF2 ZNF121 GLIS2 ZNF302 KLF7 ZNF263 ENSG00000273226 ENSG00000227167 ENSG00000270712 SCARNA8 SAXO1 RPS6 RPS6P10 HAUS6 PIR34932 LOC105375985
GH09F018979 0.4 Ensembl 11.1 +69.5 69454 1.0 INSM2 ZNF335 ZNF366 SCRT2 PATZ1 PRDM10 MAFK ZBTB20 ZNF263 L3MBTL2 PSMC3P1 SAXO1 HAUS6 PIR34932 LOC105375985
GH09F019173 0.5 Ensembl ENCODE 10.8 -124.9 -124914 1.3 HDGF ARNT ARID4B SIN3A GLI4 YBX1 ZNF2 YY1 ZNF207 FOS ENSG00000272842 HAUS6 PLIN2 ENSG00000273226 SAXO1 PSMC3P1 DENND4C RPS6P10
GH09F019171 0.9 Ensembl ENCODE 10.8 -122.8 -122750 1.4 ATF3 IKZF1 TRIM22 ZBTB33 YBX1 TBX21 RAD21 HAUS6 PLIN2 SAXO1 PSMC3P1 RPS6P10
GH09F018948 0.5 FANTOM5 10.7 +101.2 101159 0.4 SCRT1 PKNOX1 L3MBTL2 MAX USF2 MNT ZIC2 RAD51 PRDM10 ZXDB PSMC3P1 SAXO1 PIR34932 LOC105375985
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SAXO1 on UCSC Golden Path with GeneCards custom track

Promoters for SAXO1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001469646 -546 3001 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CBX5

Genomic Location for SAXO1 Gene

Chromosome:
9
Start:
18,927,658 bp from pter
End:
19,049,354 bp from pter
Size:
121,697 bases
Orientation:
Minus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SAXO1 Gene

Domains & Families for SAXO1 Gene

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

No data available for Gene Families for SAXO1 Gene

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.

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

Animal Model Products

Inhibitory RNA Products

Flow Cytometry 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}.

Gene Ontology (GO) - Cellular Components for SAXO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005814 centriole IEA,IDA 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 COMPARTMENTS 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: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

Transcripts for SAXO1 Gene

Inhibitory RNA Products

Flow Cytometry 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 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).
genes like me logo Genes that share expression patterns with SAXO1: view

Primer Products

No data available for mRNA differential expression in normal tissues 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 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAM154A 34 35
  • 86.92 (n)
cow
(Bos Taurus)
Mammalia FAM154A 34 35
  • 84.71 (n)
mouse
(Mus musculus)
Mammalia Fam154a 34 35
  • 76.39 (n)
Saxo1 16
rat
(Rattus norvegicus)
Mammalia Fam154a 34
  • 75.65 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM154A 35
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 47 (a)
ManyToMany
chicken
(Gallus gallus)
Aves FAM154A 34 35
  • 58.56 (n)
worm
(Caenorhabditis elegans)
Secernentea T08G11.3 34 35
  • 39.94 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 33 (a)
ManyToMany
-- 35
  • 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 Sequence Context AA Info Type
rs1006120 -- 18,956,319(-) AGGGG(A/G)AATGG intron-variant
rs10113899 -- 18,966,205(+) tctga(C/T)gatta intron-variant
rs10115027 -- 18,964,330(+) ggaat(A/C)gtttc intron-variant
rs10116436 -- 19,001,293(+) ACTCA(A/G)AACTG intron-variant
rs10116465 -- 18,948,327(+) TACTT(C/T)TCTTT intron-variant, upstream-variant-2KB

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)

Relevant External Links for SAXO1 Gene

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

Relevant External Links for SAXO1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (J. Cell. Sci. 2015) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R. … Iakoucheva L.M. (Nat. Commun. 2014) 3 64

Products for SAXO1 Gene

Sources for SAXO1 Gene

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