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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

  • cell projection organization Source: UniProtKB-KW
  • 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
Proteomesi
  • UP000005640 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 cilium Source: UniProtKB
  • sperm flagellum Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi116 – 119RVDP → AADA: No effect on subcellular location. 1 Publication4

Organism-specific databases

DisGeNETi158297.
OpenTargetsiENSG00000155875.
PharmGKBiPA162386652.

Polymorphism and mutation databases

BioMutaiFAM154A.
DMDMi73620045.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000897371 – 474Stabilizer of axonemal microtubules 1Add BLAST474

Proteomic databases

PaxDbiQ8IYX7.
PeptideAtlasiQ8IYX7.
PRIDEiQ8IYX7.

PTM databases

iPTMnetiQ8IYX7.
PhosphoSitePlusiQ8IYX7.

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

BgeeiENSG00000155875.
CleanExiHS_FAM154A.
ExpressionAtlasiQ8IYX7. baseline and differential.
GenevisibleiQ8IYX7. HS.

Organism-specific databases

HPAiHPA023899.

Interactioni

Subunit structurei

Associates with microtubules via the Mn regions.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
ACTN2P356093EBI-3957636,EBI-77797
CRKP461083EBI-3957636,EBI-886
FAM124AQ86V423EBI-3957636,EBI-744506
FHL2Q141923EBI-3957636,EBI-701903
FHL3Q136435EBI-3957636,EBI-741101
GLYCTKQ8IVS83EBI-3957636,EBI-748515
Hoxa1P090223EBI-3957636,EBI-3957603From a different organism.
LMO1P258003EBI-3957636,EBI-8639312
LMO2P257913EBI-3957636,EBI-739696
OSGIN1Q9UJX03EBI-3957636,EBI-9057006
POLR1CO151603EBI-3957636,EBI-1055079
SORBS3O605043EBI-3957636,EBI-741237
STK16O757165EBI-3957636,EBI-749295
TRIP6Q156543EBI-3957636,EBI-742327
VPS28Q548N13EBI-3957636,EBI-10243107
ZMYND19Q96E355EBI-3957636,EBI-746595

GO - Molecular functioni

  • microtubule binding Source: UniProtKB

Protein-protein interaction databases

BioGridi127666. 18 interactors.
IntActiQ8IYX7. 32 interactors.
STRINGi9606.ENSP00000369907.

Structurei

3D structure databases

ProteinModelPortaliQ8IYX7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni30 – 64Mn 1Add BLAST35
Regioni65 – 97Mn 2Add BLAST33
Regioni98 – 131Mn 3Add BLAST34
Regioni132 – 165Mn 4Add BLAST34
Regioni166 – 199Mn 5Add BLAST34
Regioni200 – 232Mn 6Add BLAST33
Regioni233 – 266Mn 7Add BLAST34
Regioni267 – 299Mn 8Add BLAST33
Regioni300 – 332Mn 9Add BLAST33
Regioni333 – 366Mn 10Add BLAST34
Regioni367 – 400Mn 12Add BLAST34
Regioni401 – 434Mn 12Add BLAST34

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

eggNOGiENOG410IFF0. Eukaryota.
ENOG410Z4HD. LUCA.
GeneTreeiENSGT00390000007252.
HOGENOMiHOG000049249.
HOVERGENiHBG060301.
InParanoidiQ8IYX7.
OMAiPWNQPRR.
OrthoDBiEOG091G0GMK.
PhylomeDBiQ8IYX7.
TreeFamiTF319394.

Family and domain databases

InterProiIPR033336. SAXO1/2.
[Graphical view]
PANTHERiPTHR31516. PTHR31516. 1 hit.

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_02322927K → E.1 PublicationCorresponds to variant rs7021572dbSNPEnsembl.1
Natural variantiVAR_02323063P → S.1 PublicationCorresponds to variant rs6475273dbSNPEnsembl.1
Natural variantiVAR_057807385N → S.Corresponds to variant rs34119945dbSNPEnsembl.1

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.4. 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. 18 interactors.
IntActiQ8IYX7. 32 interactors.
STRINGi9606.ENSP00000369907.

PTM databases

iPTMnetiQ8IYX7.
PhosphoSitePlusiQ8IYX7.

Polymorphism and mutation databases

BioMutaiFAM154A.
DMDMi73620045.

Proteomic databases

PaxDbiQ8IYX7.
PeptideAtlasiQ8IYX7.
PRIDEiQ8IYX7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000380534; ENSP00000369907; ENSG00000155875.
GeneIDi158297.
KEGGihsa:158297.
UCSCiuc003zni.4. human.

Organism-specific databases

CTDi158297.
DisGeNETi158297.
GeneCardsiSAXO1.
HGNCiHGNC:28566. SAXO1.
HPAiHPA023899.
MIMi616292. gene.
neXtProtiNX_Q8IYX7.
OpenTargetsiENSG00000155875.
PharmGKBiPA162386652.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFF0. Eukaryota.
ENOG410Z4HD. LUCA.
GeneTreeiENSGT00390000007252.
HOGENOMiHOG000049249.
HOVERGENiHBG060301.
InParanoidiQ8IYX7.
OMAiPWNQPRR.
OrthoDBiEOG091G0GMK.
PhylomeDBiQ8IYX7.
TreeFamiTF319394.

Miscellaneous databases

GenomeRNAii158297.
PROiQ8IYX7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000155875.
CleanExiHS_FAM154A.
ExpressionAtlasiQ8IYX7. baseline and differential.
GenevisibleiQ8IYX7. HS.

Family and domain databases

InterProiIPR033336. SAXO1/2.
[Graphical view]
PANTHERiPTHR31516. PTHR31516. 1 hit.
ProtoNetiSearch...

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: November 30, 2016
This is version 97 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

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 one 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.