Aliases for SAXO1 Gene

Aliases for SAXO1 Gene

  • Stabilizer Of Axonemal Microtubules 1 2 3 4 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

Previous GeneCards Identifiers for SAXO1 Gene

  • GC09M018927

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 Summary 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 , Rfam classification and piRNA Summary for SAXO1 Gene

Genomics for SAXO1 Gene

GeneHancer (GH) Regulatory Elements for SAXO1 Gene

Promoters and enhancers for SAXO1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SAXO1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SAXO1

Genomic Locations for SAXO1 Gene

Genomic Locations for SAXO1 Gene
chr9:18,858,906-19,049,358
(GRCh38/hg38)
Size:
190,453 bases
Orientation:
Minus strand
chr9:18,927,656-19,033,256
(GRCh37/hg19)
Size:
105,601 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

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:
  • cDNA FLJ77589 (A8K880_HUMAN)
  • Protein FAM154A (F154A_HUMAN)

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

Animal Models for SAXO1 Gene

MGI Knock Outs for SAXO1:
  • Saxo1 Saxo1<tm1b(EUCOMM)Hmgu>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SAXO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005814 centriole IBA,IDA 25673876
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IBA 21873635
GO:0005879 axonemal microtubule IBA,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

PathCards logo

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:0034453 microtubule anchoring IBA 21873635
GO:0045724 positive regulation of cilium assembly IMP 25673876
GO:0050821 protein stabilization 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

mRNA/cDNA for SAXO1 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

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 and MOPED for SAXO1 Gene



Protein tissue co-expression partners for SAXO1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAM154A 31 30
  • 86.92 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FAM154A 31 30
  • 84.71 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fam154a 31 30
  • 76.39 (n)
OneToOne
Saxo1 17
rat
(Rattus norvegicus)
Mammalia Fam154a 30
  • 75.65 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM154A 31
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 47 (a)
ManyToMany
chicken
(Gallus gallus)
Aves FAM154A 31 30
  • 58.56 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T08G11.3 31 30
  • 39.94 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 33 (a)
ManyToMany
-- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SAXO1: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SAXO1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs34119945 - p.Asn385Ser
rs6475273 - p.Pro63Ser
rs7021572 - p.Lys27Glu

Additional dbSNP identifiers (rs#s) for SAXO1 Gene

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

SNP Genotyping and Copy Number Assay Products

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 54
  2. 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 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 54
  5. Loss of ER retention motif of AGR2 can impact mTORC signaling and promote cancer metastasis. (PMID: 30575818) Tiemann K … Kani K (Oncogene 2019) 3 54

Products for SAXO1 Gene

Sources for SAXO1 Gene