ENSG00000152700


Homo sapiens

Features
Gene ID: ENSG00000152700
  
Biological name :SAR1B
  
Synonyms : Q9Y6B6 / SAR1B / secretion associated Ras related GTPase 1B
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: -1
Band: q31.1
Gene start: 134601144
Gene end: 134649271
  
Corresponding Affymetrix probe sets: 1554482_a_at (Human Genome U133 Plus 2.0 Array)   218254_s_at (Human Genome U133 Plus 2.0 Array)   223512_at (Human Genome U133 Plus 2.0 Array)   226742_at (Human Genome U133 Plus 2.0 Array)   230397_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000423197
Ensembl peptide - ENSP00000426335
Ensembl peptide - ENSP00000425466
Ensembl peptide - ENSP00000425367
Ensembl peptide - ENSP00000425339
Ensembl peptide - ENSP00000424673
Ensembl peptide - ENSP00000385432
Ensembl peptide - ENSP00000404997
Ensembl peptide - ENSP00000423005
NCBI entrez gene - 51128     See in Manteia.
OMIM - 607690
RefSeq - XM_017009521
RefSeq - NM_001033503
RefSeq - NM_016103
RefSeq Peptide - NP_057187
RefSeq Peptide - NP_001028675
swissprot - D6RDB2
swissprot - Q9H029
swissprot - D6RAA2
swissprot - D6RD69
swissprot - D6R9R5
swissprot - Q9Y6B6
Ensembl - ENSG00000152700
  
Related genetic diseases (OMIM): 246700 - Chylomicron retention disease, 246700
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sar1bENSDARG00000103403Danio rerio
 SAR1BENSGALG00000038753Gallus gallus
 Sar1bENSMUSG00000020386Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SAR1A / Q9NR31 / secretion associated Ras related GTPase 1AENSG0000007933289


Protein motifs (from Interpro)
Interpro ID Name
 IPR005225  Small GTP-binding protein domain
 IPR006687  Small GTPase superfamily, SAR1-type
 IPR006689  Small GTPase superfamily, ARF/SAR type
 IPR027417  P-loop containing nucleoside triphosphate hydrolase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS
 biological_processGO:0006886 intracellular protein transport IEA
 biological_processGO:0006888 ER to Golgi vesicle-mediated transport TAS
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0016192 vesicle-mediated transport IEA
 biological_processGO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS
 biological_processGO:0048208 COPII vesicle coating TAS
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0012507 ER to Golgi transport vesicle membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0032580 Golgi cisterna membrane IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003924 GTPase activity TAS
 molecular_functionGO:0005525 GTP binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Regulation of cholesterol biosynthesis by SREBP (SREBF)
COPII-mediated vesicle transport
MHC class II antigen presentation
Cargo concentration in the ER
Chylomicron assembly
Antigen Presentation: Folding, assembly and peptide loading of class I MHC


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show

 HP:0000478 Abnormality of the eyes "Any abnormality of the `eyes` (FMA:54448), including location, spacing, and intraocular abnormalities." [HPO:curators]
Show

 HP:0000488 Retinopathy 
Show

 HP:0000505 Impaired vision 
Show

 HP:0001249 Mental retardation 
Show

 HP:0001284 Areflexia 
Show

 HP:0001315 Reduced reflexes 
Show

 HP:0001397 Hepatic steatosis 
Show

 HP:0001508 Failure to thrive 
Show

 HP:0001510 Growth retardation 
Show

 HP:0001871 Hematological abnormality 
Show

 HP:0001927 Red cell acanthocytosis "Acanthocytosis refers to an abnormal morphiology of red-blood cells characterized by the presence of spikes on the cell surface. The cells have an irregular shaped resembling many-pointed stars." [HPO:curators]
Show

 HP:0002013 Vomiting 
Show

 HP:0002014 Diarrhea 
Show

 HP:0002495 Impaired vibratory sense "A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient." [HPO:curators]
Show

 HP:0002570 Steatorrhea 
Show

 HP:0002910 Elevated transaminases "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators]
Show

 HP:0003073 Hypoalbuminemia "Reduction in the concentration of albumin in the blood." [HPO:curators]
Show

 HP:0003146 Hypocholesterolemia 
Show

 HP:0003270 Abdominal distention "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators]
Show

 HP:0003458 EMG myopathic abnormalities "The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials." [HPO:curators]
Show

 HP:0003563 Hypobetalipoproteinemia 
Show

 HP:0003593 Early onset 
Show

 HP:0004395 Malnutrition 
Show

 HP:0006565 Liver biopsy shows increased lipid droplets 
Show

 HP:0010831 Impaired proprioception "A loss or impairment of the sensation of the relative position of parts of the body and joint position." [HPO:probinson]
Show

 HP:0100508 Abnormality of vitamin metabolism 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000114354 TFG / Q92734 / TRK-fused gene  / complex / reaction
 ENSG00000138802 O95487 / SEC24B / SEC24 homolog B, COPII coat complex component  / reaction / complex
 ENSG00000138073 PREB / Q9HCU5 / prolactin regulatory element binding  / reaction
 ENSG00000138674 O94979 / SEC31A / SEC31 homolog A, COPII coat complex component  / complex / reaction
 ENSG00000100934 Q15436 / SEC23A / Sec23 homolog A, coat complex II component  / complex / reaction
 ENSG00000150961 O94855 / SEC24D / SEC24 homolog D, COPII coat complex component  / reaction / complex
 ENSG00000157020 SEC13 / P55735 / SEC13 homolog, nuclear pore and COPII coat complex component  / reaction / complex
 ENSG00000176986 P53992 / SEC24C / SEC24 homolog C, COPII coat complex component  / complex / reaction
 ENSG00000113615 O95486 / SEC24A / SEC24 homolog A, COPII coat complex component  / reaction / complex
 ENSG00000166710 B2M / P61769 / beta-2-microglobulin  / reaction / complex
 ENSG00000107651 Q9Y6Y8 / SEC23IP / SEC23 interacting protein  / reaction / complex
 ENSG00000019582 CD74 / P04233 / CD74 molecule  / complex / reaction
 ENSG00000237541 P01906 / HLA-DQA2 / major histocompatibility complex, class II, DQ alpha 2  / reaction / complex
 ENSG00000152700 SAR1B / Q9Y6B6 / secretion associated Ras related GTPase 1B  / complex / reaction
 ENSG00000148396 O15027 / SEC16A / SEC16 homolog A, endoplasmic reticulum export factor  / complex / reaction
 ENSG00000120341 Q96JE7 / SEC16B / SEC16 homolog B, endoplasmic reticulum export factor  / complex / reaction
 ENSG00000072310 P36956 / SREBF1 / sterol regulatory element binding transcription factor 1  / complex
 ENSG00000204287 P01903 / HLA-DRA / major histocompatibility complex, class II, DR alpha  / reaction / complex
 ENSG00000198911 Q12772 / SREBF2 / sterol regulatory element binding transcription factor 2  / complex
 ENSG00000231389 P20036 / HLA-DPA1 / major histocompatibility complex, class II, DP alpha 1  / reaction / complex
 ENSG00000196735 P01909 / HLA-DQA1 / major histocompatibility complex, class II, DQ alpha 1  / reaction / complex
 ENSG00000114650 SCAP / Q12770 / SREBF chaperone  / complex
 ENSG00000265808 O75396 / SEC22B / SEC22 homolog B, vesicle trafficking protein (gene/pseudogene)  / complex / reaction






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr