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Protein

Stabilizer of axonemal microtubules 1

Gene

SAXO1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May play a role in the regulation of cilium length. Stabilizes microtubules at low temperature.1 Publication

GO - Molecular functioni

  • microtubule binding Source: UniProtKB

GO - Biological processi

  • cellular response to cold Source: UniProtKB
  • cold acclimation Source: UniProtKB
  • positive regulation of cilium assembly Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Names & Taxonomyi

Protein namesi
Recommended name:
Stabilizer of axonemal microtubules 11 Publication
Gene namesi
Name:SAXO1
Synonyms:C9orf138, FAM154A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:28566. SAXO1.

Subcellular locationi

GO - Cellular componenti

  • axonemal microtubule Source: UniProtKB
  • centriole Source: UniProtKB
  • ciliary basal body Source: UniProtKB
  • motile primary cilium Source: UniProtKB
  • sperm flagellum Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi116 – 1194RVDP → AADA: No effect on subcellular location. 1 Publication

Organism-specific databases

PharmGKBiPA162386652.

Polymorphism and mutation databases

BioMutaiFAM154A.
DMDMi73620045.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 474474Stabilizer of axonemal microtubules 1PRO_0000089737Add
BLAST

Proteomic databases

PaxDbiQ8IYX7.
PRIDEiQ8IYX7.

PTM databases

PhosphoSiteiQ8IYX7.

Expressioni

Tissue specificityi

Widely expressed, with highest levels in testis. Expressed in mature spermatozoa (at protein level).1 Publication

Developmental stagei

In retinal pigment epithelium (RPE1) cell line, after 24 hours of serum starvation to stimulate primary cilium production, present at the mother and daughter basal bodies. At early time points of ciliogenesis, not detected in the axoneme. At later time points, expressed along the axoneme, with increasing levels as maturation of the cilium proceeds.1 Publication

Gene expression databases

BgeeiQ8IYX7.
CleanExiHS_FAM154A.
ExpressionAtlasiQ8IYX7. baseline.
GenevisibleiQ8IYX7. HS.

Organism-specific databases

HPAiHPA023899.

Interactioni

Subunit structurei

Associates with microtubules via the Mn regions.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
Hoxa1P090223EBI-3957636,EBI-3957603From a different organism.

Protein-protein interaction databases

BioGridi127666. 19 interactions.
IntActiQ8IYX7. 1 interaction.
STRINGi9606.ENSP00000369907.

Structurei

3D structure databases

ProteinModelPortaliQ8IYX7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni30 – 6435Mn 1Add
BLAST
Regioni65 – 9733Mn 2Add
BLAST
Regioni98 – 13134Mn 3Add
BLAST
Regioni132 – 16534Mn 4Add
BLAST
Regioni166 – 19934Mn 5Add
BLAST
Regioni200 – 23233Mn 6Add
BLAST
Regioni233 – 26634Mn 7Add
BLAST
Regioni267 – 29933Mn 8Add
BLAST
Regioni300 – 33233Mn 9Add
BLAST
Regioni333 – 36634Mn 10Add
BLAST
Regioni367 – 40034Mn 12Add
BLAST
Regioni401 – 43434Mn 12Add
BLAST

Domaini

The Mn regions are involved in microtubule-binding and stabilization at low temperature. They are required and sufficient for cilium targeting.1 Publication
The N-terminal region (residues 1-29) might play a role in centriole retention.1 Publication

Sequence similaritiesi

Belongs to the FAM154 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiNOG87688.
GeneTreeiENSGT00390000007252.
HOGENOMiHOG000049249.
HOVERGENiHBG060301.
InParanoidiQ8IYX7.
OMAiPWNQPRR.
OrthoDBiEOG7VMP4T.
PhylomeDBiQ8IYX7.
TreeFamiTF319394.

Family and domain databases

InterProiIPR024963. MAP6/FAM154.
[Graphical view]
PfamiPF05217. STOP. 3 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8IYX7-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKTKCICELC SCGRHHCPHL PTKIYDKTEK PCLLSEYTEN YPFYHSYLPR
60 70 80 90 100
ESFKPRREYQ KGPIPMEGLT TSRRDFGPHK VAPVKVHQYD QFVPSEENMD
110 120 130 140 150
LLTTYKKDYN PYPVCRVDPI KPRDSKYPCS DKMECLPTYK ADYLPWNQPR
160 170 180 190 200
REPLRLEHKY QPASVRFDNR TTHQDDYPIK GLVKTISCKP LAMPKLCNIP
210 220 230 240 250
LEDVTNYKMS YVAHPVEKRF VHEAEKFRPC EIPFESLTTQ KQSYRGLMGE
260 270 280 290 300
PAKSLKPLAR PPGLDMPFCN TTEFRDKYQA WPMPRMFSKA PITYVPPEDR
310 320 330 340 350
MDLLTTVQAH YTCPKGAPAQ SCRPALQIKK CGRFEGSSTT KDDYKQWSSM
360 370 380 390 400
RTEPVKPVPQ LDLPTEPLDC LTTTRAHYVP HLPINTKSCK PHWSGPRGNV
410 420 430 440 450
PVESQTTYTI SFTPKEMGRC LASYPEPPGY TFEEVDALGH RIYKPVSQAG
460 470
SQQSSHLSVD DSENPNQREL EVLA
Length:474
Mass (Da):54,621
Last modified:August 16, 2005 - v2
Checksum:i8D4525BEDE11F5D8
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti27 – 271K → E.1 Publication
Corresponds to variant rs7021572 [ dbSNP | Ensembl ].
VAR_023229
Natural varianti63 – 631P → S.1 Publication
Corresponds to variant rs6475273 [ dbSNP | Ensembl ].
VAR_023230
Natural varianti385 – 3851N → S.
Corresponds to variant rs34119945 [ dbSNP | Ensembl ].
VAR_057807

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK292245 mRNA. Translation: BAF84934.1.
AL158150, AL356000 Genomic DNA. Translation: CAH71465.1.
AL356000, AL158150 Genomic DNA. Translation: CAH72135.1.
CH471071 Genomic DNA. Translation: EAW58654.1.
BC033489 mRNA. Translation: AAH33489.1.
CCDSiCCDS6487.1.
RefSeqiNP_001273978.1. NM_001287049.1.
NP_001273979.1. NM_001287050.1.
NP_714918.2. NM_153707.3.
UniGeneiHs.731593.

Genome annotation databases

EnsembliENST00000380534; ENSP00000369907; ENSG00000155875.
GeneIDi158297.
KEGGihsa:158297.
UCSCiuc003zni.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK292245 mRNA. Translation: BAF84934.1.
AL158150, AL356000 Genomic DNA. Translation: CAH71465.1.
AL356000, AL158150 Genomic DNA. Translation: CAH72135.1.
CH471071 Genomic DNA. Translation: EAW58654.1.
BC033489 mRNA. Translation: AAH33489.1.
CCDSiCCDS6487.1.
RefSeqiNP_001273978.1. NM_001287049.1.
NP_001273979.1. NM_001287050.1.
NP_714918.2. NM_153707.3.
UniGeneiHs.731593.

3D structure databases

ProteinModelPortaliQ8IYX7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127666. 19 interactions.
IntActiQ8IYX7. 1 interaction.
STRINGi9606.ENSP00000369907.

PTM databases

PhosphoSiteiQ8IYX7.

Polymorphism and mutation databases

BioMutaiFAM154A.
DMDMi73620045.

Proteomic databases

PaxDbiQ8IYX7.
PRIDEiQ8IYX7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000380534; ENSP00000369907; ENSG00000155875.
GeneIDi158297.
KEGGihsa:158297.
UCSCiuc003zni.2. human.

Organism-specific databases

CTDi158297.
GeneCardsiGC09M018920.
HGNCiHGNC:28566. SAXO1.
HPAiHPA023899.
MIMi616292. gene.
neXtProtiNX_Q8IYX7.
PharmGKBiPA162386652.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG87688.
GeneTreeiENSGT00390000007252.
HOGENOMiHOG000049249.
HOVERGENiHBG060301.
InParanoidiQ8IYX7.
OMAiPWNQPRR.
OrthoDBiEOG7VMP4T.
PhylomeDBiQ8IYX7.
TreeFamiTF319394.

Miscellaneous databases

GenomeRNAii158297.
NextBioi87684.
PROiQ8IYX7.
SOURCEiSearch...

Gene expression databases

BgeeiQ8IYX7.
CleanExiHS_FAM154A.
ExpressionAtlasiQ8IYX7. baseline.
GenevisibleiQ8IYX7. HS.

Family and domain databases

InterProiIPR024963. MAP6/FAM154.
[Graphical view]
PfamiPF05217. STOP. 3 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS GLU-27 AND SER-63.
    Tissue: Testis.
  2. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS GLU-27 AND SER-63.
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS GLU-27 AND SER-63.
    Tissue: Brain.
  5. "Human FAM154A (SAXO1) is a microtubule-stabilizing protein specific to cilia and related structures."
    Dacheux D., Roger B., Bosc C., Landrein N., Roche E., Chansel L., Trian T., Andrieux A., Papaxanthos-Roche A., Marthan R., Robinson D.R., Bonhivers M.
    J. Cell Sci. 128:1294-1307(2015) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, ASSOCIATION WITH MICROTUBULES, SUBBUNIT, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, MUTAGENESIS OF 116-ARG--PRO-119.

Entry informationi

Entry nameiSAXO1_HUMAN
AccessioniPrimary (citable) accession number: Q8IYX7
Secondary accession number(s): A8K880, Q5VY58
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: August 16, 2005
Last modified: July 22, 2015
This is version 84 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.