SAXO3 (stabilizer of axonemal microtubules 3) - Rat Genome Database

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Gene: SAXO3 (stabilizer of axonemal microtubules 3) Homo sapiens
Analyze
Symbol: SAXO3
Name: stabilizer of axonemal microtubules 3
RGD ID: 16565023
HGNC Page HGNC:56771
Description:
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AC008687.4; CTB-60B18.10; LOC101059948; novel protein; uncharacterized LOC101059948; uncharacterized protein LOC101059948
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38.p14 Ensembl - Human Genome Assembly GRCh38 Ensembl
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381949,017,968 - 49,020,549 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1949,017,968 - 49,020,549 (-)EnsemblGRCh38hg38GRCh38
GRCh371949,521,225 - 49,523,806 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map19q13.33NCBI
HuRef1945,898,225 - 45,899,463 (-)NCBIHuRef
CHM1_11949,523,729 - 49,524,965 (-)NCBICHM1_1
T2T-CHM13v2.01952,012,741 - 52,015,325 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References

Genomics

Comparative Map Data
SAXO3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381949,017,968 - 49,020,549 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1949,017,968 - 49,020,549 (-)EnsemblGRCh38hg38GRCh38
GRCh371949,521,225 - 49,523,806 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map19q13.33NCBI
HuRef1945,898,225 - 45,899,463 (-)NCBIHuRef
CHM1_11949,523,729 - 49,524,965 (-)NCBICHM1_1
T2T-CHM13v2.01952,012,741 - 52,015,325 (-)NCBIT2T-CHM13v2.0
Saxo3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39745,067,770 - 45,069,915 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl745,067,777 - 45,071,278 (+)EnsemblGRCm39 Ensembl
MGSCv37752,673,729 - 52,675,734 (+)NCBIGRCm37MGSCv37mm9NCBIm37
Celera740,874,393 - 40,876,398 (+)NCBICelera
Cytogenetic Map7B4NCBI
Saxo3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81105,034,158 - 105,038,446 (+)NCBIGRCr8
SAXO3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22055,123,447 - 55,126,296 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11957,049,605 - 57,052,453 (-)NCBINHGRI_mPanPan1
LOC119870945
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ROS_Cfam_1.01107,903,848 - 107,907,136 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11107,571,701 - 107,574,980 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01107,217,157 - 107,221,148 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01108,052,769 - 108,056,758 (+)NCBIUU_Cfam_GSD_1.0


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3 copy number gain See cases [RCV000052913] Chr19:46658791..49050450 [GRCh38]
Chr19:47162048..49553707 [GRCh37]
Chr19:51853888..54245519 [NCBI36]
Chr19:19q13.32-13.33		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:371
Count of miRNA genes:345
Interacting mature miRNAs:365
Transcripts:ENST00000600007
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 4 4 2 22 2 1 1 5 2 61 7 4
Low 447 63 445 83 372 36 560 39 334 113 597 502 54 62 241 4
Below cutoff 1735 2489 1058 352 1149 243 3521 1889 2969 226 708 1026 110 1099 2350

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000600007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,018,247 - 49,019,484 (-)Ensembl
RefSeq Acc Id: ENST00000637680   ⟹   ENSP00000489727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,017,968 - 49,020,549 (-)Ensembl
RefSeq Acc Id: NM_001396011   ⟹   NP_001382940
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,017,968 - 49,020,549 (-)NCBI
T2T-CHM13v2.01952,012,741 - 52,015,325 (-)NCBI
RefSeq Acc Id: NR_173107
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,017,968 - 49,019,498 (-)NCBI
T2T-CHM13v2.01952,012,741 - 52,014,273 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001382940 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A0A1B0GTJ6 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000489727
Reference Protein Sequences
RefSeq Acc Id: ENSP00000489727   ⟸   ENST00000637680
RefSeq Acc Id: NP_001382940   ⟸   NM_001396011
- UniProtKB: A0A1B0GTJ6 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A0A1B0GTJ6-F1-model_v2 AlphaFold A0A1B0GTJ6 1-334 view protein structure


Additional Information

Database Acc Id Source(s)
COSMIC SAXO3 COSMIC
Ensembl Genes ENSG00000268655 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000637680 ENTREZGENE
GTEx ENSG00000268655 GTEx
HGNC ID HGNC:56771 ENTREZGENE
Human Proteome Map SAXO3 Human Proteome Map
NCBI Gene LOC101059948 ENTREZGENE
PANTHER HCG1796489 UniProtKB/Swiss-Prot
  HCG1796489 UniProtKB/Swiss-Prot
UniProt A0A1B0GTJ6 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-05-01 SAXO3  stabilizer of axonemal microtubules 3  AC008687.4  novel protein  Symbol and/or name change 19259463 PROVISIONAL
2020-06-25 AC008687.4  novel protein  LOC101059948  uncharacterized LOC101059948  Symbol and/or name change 19259462 PROVISIONAL
2020-06-18 LOC101059948  uncharacterized LOC101059948  AC008687.4  novel protein  Symbol and/or name change 5135510 APPROVED