UniProtKB - Q9Y6B6 (SAR1B_HUMAN)
Protein
GTP-binding protein SAR1b
Gene
SAR1B
Organism
Homo sapiens (Human)
Status
Functioni
Involved in transport from the endoplasmic reticulum to the Golgi apparatus. Activated by the guanine nucleotide exchange factor PREB. Involved in the selection of the protein cargo and the assembly of the COPII coat complex.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 34 | MagnesiumBy similarity | 1 | |
Metal bindingi | 75 | MagnesiumBy similarity | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 32 – 39 | GTPBy similarity | 8 | |
Nucleotide bindingi | 75 – 78 | GTPBy similarity | 4 | |
Nucleotide bindingi | 134 – 137 | GTPBy similarity | 4 |
GO - Molecular functioni
- GTPase activity Source: GO_Central
- GTP binding Source: UniProtKB-KW
- metal ion binding Source: UniProtKB-KW
GO - Biological processi
- antigen processing and presentation of exogenous peptide antigen via MHC class II Source: Reactome
- antigen processing and presentation of peptide antigen via MHC class I Source: Reactome
- COPII vesicle coating Source: Reactome
- endoplasmic reticulum to Golgi vesicle-mediated transport Source: GO_Central
- intracellular protein transport Source: GO_Central
- membrane organization Source: GO_Central
- positive regulation of protein exit from endoplasmic reticulum Source: GO_Central
- regulation of COPII vesicle coating Source: GO_Central
- vesicle organization Source: GO_Central
Keywordsi
Biological process | ER-Golgi transport, Protein transport, Transport |
Ligand | GTP-binding, Magnesium, Metal-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q9Y6B6 |
Reactomei | R-HSA-1655829, Regulation of cholesterol biosynthesis by SREBP (SREBF) R-HSA-204005, COPII-mediated vesicle transport R-HSA-2132295, MHC class II antigen presentation R-HSA-5694530, Cargo concentration in the ER R-HSA-8963888, Chylomicron assembly R-HSA-983170, Antigen Presentation: Folding, assembly and peptide loading of class I MHC |
Names & Taxonomyi
Protein namesi | Recommended name: GTP-binding protein SAR1bAlternative name(s): GTP-binding protein B Short name: GTBPB |
Gene namesi | Name:SAR1B Synonyms:SARA2, SARB |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000152700.13 |
HGNCi | HGNC:10535, SAR1B |
MIMi | 607690, gene |
neXtProti | NX_Q9Y6B6 |
Subcellular locationi
Golgi apparatus
- Golgi stack membrane By similarity; Peripheral membrane protein By similarity
Endoplasmic reticulum
- Endoplasmic reticulum membrane By similarity; Peripheral membrane protein By similarity
Note: Associated with the endoplasmic reticulum and Golgi stacks, in particular in the juxta-nuclear Golgi region.By similarity
Cytosol
- cytosol Source: Reactome
Endoplasmic reticulum
- endoplasmic reticulum Source: GO_Central
- endoplasmic reticulum exit site Source: GO_Central
- endoplasmic reticulum membrane Source: Reactome
Golgi apparatus
- Golgi cisterna membrane Source: UniProtKB-SubCell
Other locations
- COPII vesicle coat Source: GO_Central
- ER to Golgi transport vesicle membrane Source: Reactome
Keywords - Cellular componenti
Endoplasmic reticulum, Golgi apparatus, MembranePathology & Biotechi
Involvement in diseasei
Chylomicron retention disease (CMRD)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy. The condition is characterized by deficiency of fat-soluble vitamins, low blood cholesterol levels, and a selective absence of chylomicrons from blood. Affected individuals accumulate chylomicron-like particles in membrane-bound compartments of enterocytes, which contain large cytosolic lipid droplets.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_059051 | 11 | G → D in CMRD. 1 Publication | 1 | |
Natural variantiVAR_016806 | 37 | G → R in CMRD; loss of GDP/GTP-binding. 1 PublicationCorresponds to variant dbSNP:rs121917846EnsemblClinVar. | 1 | |
Natural variantiVAR_059052 | 75 | D → G in CMRD. 1 PublicationCorresponds to variant dbSNP:rs1254114609Ensembl. | 1 | |
Natural variantiVAR_016807 | 137 | D → N in CMRD; reduced affinity for GDP/GTP. 1 PublicationCorresponds to variant dbSNP:rs28942109EnsemblClinVar. | 1 | |
Natural variantiVAR_016808 | 179 | S → R in CMRD; loss of GDP/GTP-binding. 1 PublicationCorresponds to variant dbSNP:rs28942110EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 51128 |
MalaCardsi | SAR1B |
MIMi | 246700, phenotype |
OpenTargetsi | ENSG00000152700 |
Orphaneti | 71, Chylomicron retention disease |
PharmGKBi | PA34943 |
Miscellaneous databases
Pharosi | Q9Y6B6, Tbio |
Chemistry databases
DrugBanki | DB04315, Guanosine-5'-Diphosphate |
Polymorphism and mutation databases
BioMutai | SAR1B |
DMDMi | 14285769 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000206261 | 1 – 198 | GTP-binding protein SAR1bAdd BLAST | 198 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 164 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9Y6B6 |
jPOSTi | Q9Y6B6 |
MassIVEi | Q9Y6B6 |
MaxQBi | Q9Y6B6 |
PaxDbi | Q9Y6B6 |
PeptideAtlasi | Q9Y6B6 |
PRIDEi | Q9Y6B6 |
ProteomicsDBi | 86646 |
PTM databases
iPTMneti | Q9Y6B6 |
PhosphoSitePlusi | Q9Y6B6 |
SwissPalmi | Q9Y6B6 |
Expressioni
Tissue specificityi
Expressed in many tissues including small intestine, liver, muscle and brain.
Gene expression databases
Bgeei | ENSG00000152700, Expressed in biceps brachii and 237 other tissues |
ExpressionAtlasi | Q9Y6B6, baseline and differential |
Genevisiblei | Q9Y6B6, HS |
Organism-specific databases
HPAi | ENSG00000152700, Low tissue specificity |
Interactioni
Subunit structurei
Homodimer. Binds PREB. Part of the COPII coat complex. Binds to the cytoplasmic tails of target proteins in the endoplasmic reticulum (By similarity).
By similarityBinary interactionsi
Hide detailsProtein-protein interaction databases
BioGRIDi | 119315, 26 interactors |
CORUMi | Q9Y6B6 |
IntActi | Q9Y6B6, 11 interactors |
STRINGi | 9606.ENSP00000385432 |
Miscellaneous databases
RNActi | Q9Y6B6, protein |
Family & Domainsi
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG0077, Eukaryota |
GeneTreei | ENSGT00940000160154 |
HOGENOMi | CLU_040729_6_0_1 |
InParanoidi | Q9Y6B6 |
OMAi | FRWVAQY |
OrthoDBi | 1168548at2759 |
PhylomeDBi | Q9Y6B6 |
TreeFami | TF312890 |
Family and domain databases
InterProi | View protein in InterPro IPR027417, P-loop_NTPase IPR005225, Small_GTP-bd_dom IPR006689, Small_GTPase_ARF/SAR IPR006687, Small_GTPase_SAR1 |
PANTHERi | PTHR45684, PTHR45684, 1 hit |
Pfami | View protein in Pfam PF00025, Arf, 1 hit |
PRINTSi | PR00328, SAR1GTPBP |
SUPFAMi | SSF52540, SSF52540, 1 hit |
TIGRFAMsi | TIGR00231, small_GTP, 1 hit |
PROSITEi | View protein in PROSITE PS51422, SAR1, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All
Q9Y6B6-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MSFIFDWIYS GFSSVLQFLG LYKKTGKLVF LGLDNAGKTT LLHMLKDDRL
60 70 80 90 100
GQHVPTLHPT SEELTIAGMT FTTFDLGGHV QARRVWKNYL PAINGIVFLV
110 120 130 140 150
DCADHERLLE SKEELDSLMT DETIANVPIL ILGNKIDRPE AISEERLREM
160 170 180 190
FGLYGQTTGK GSISLKELNA RPLEVFMCSV LKRQGYGEGF RWMAQYID
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketD6RD69 | D6RD69_HUMAN | GTP-binding protein SAR1b | SAR1B | 170 | Annotation score: | ||
Q9H029 | Q9H029_HUMAN | GTP-binding protein SAR1b | SAR1B DKFZp434B2017 | 130 | Annotation score: | ||
D6RAA2 | D6RAA2_HUMAN | GTP-binding protein SAR1b | SAR1B | 103 | Annotation score: | ||
D6R9R5 | D6R9R5_HUMAN | GTP-binding protein SAR1b | SAR1B | 118 | Annotation score: | ||
D6RDB2 | D6RDB2_HUMAN | GTP-binding protein SAR1b | SAR1B | 144 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_059051 | 11 | G → D in CMRD. 1 Publication | 1 | |
Natural variantiVAR_016806 | 37 | G → R in CMRD; loss of GDP/GTP-binding. 1 PublicationCorresponds to variant dbSNP:rs121917846EnsemblClinVar. | 1 | |
Natural variantiVAR_059052 | 75 | D → G in CMRD. 1 PublicationCorresponds to variant dbSNP:rs1254114609Ensembl. | 1 | |
Natural variantiVAR_016807 | 137 | D → N in CMRD; reduced affinity for GDP/GTP. 1 PublicationCorresponds to variant dbSNP:rs28942109EnsemblClinVar. | 1 | |
Natural variantiVAR_016808 | 179 | S → R in CMRD; loss of GDP/GTP-binding. 1 PublicationCorresponds to variant dbSNP:rs28942110EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF092130 mRNA Translation: AAD40372.1 AF087850 mRNA Translation: AAP97161.1 CH471062 Genomic DNA Translation: EAW62249.1 CH471062 Genomic DNA Translation: EAW62250.1 BC002847 mRNA Translation: AAH02847.1 BC093034 mRNA Translation: AAH93034.1 |
CCDSi | CCDS4177.1 |
RefSeqi | NP_001028675.1, NM_001033503.2 NP_057187.1, NM_016103.3 XP_016865010.1, XM_017009521.1 |
Genome annotation databases
Ensembli | ENST00000402673; ENSP00000385432; ENSG00000152700 ENST00000439578; ENSP00000404997; ENSG00000152700 |
GeneIDi | 51128 |
KEGGi | hsa:51128 |
UCSCi | uc003kzq.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF092130 mRNA Translation: AAD40372.1 AF087850 mRNA Translation: AAP97161.1 CH471062 Genomic DNA Translation: EAW62249.1 CH471062 Genomic DNA Translation: EAW62250.1 BC002847 mRNA Translation: AAH02847.1 BC093034 mRNA Translation: AAH93034.1 |
CCDSi | CCDS4177.1 |
RefSeqi | NP_001028675.1, NM_001033503.2 NP_057187.1, NM_016103.3 XP_016865010.1, XM_017009521.1 |
3D structure databases
SMRi | Q9Y6B6 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 119315, 26 interactors |
CORUMi | Q9Y6B6 |
IntActi | Q9Y6B6, 11 interactors |
STRINGi | 9606.ENSP00000385432 |
Chemistry databases
DrugBanki | DB04315, Guanosine-5'-Diphosphate |
PTM databases
iPTMneti | Q9Y6B6 |
PhosphoSitePlusi | Q9Y6B6 |
SwissPalmi | Q9Y6B6 |
Polymorphism and mutation databases
BioMutai | SAR1B |
DMDMi | 14285769 |
Proteomic databases
EPDi | Q9Y6B6 |
jPOSTi | Q9Y6B6 |
MassIVEi | Q9Y6B6 |
MaxQBi | Q9Y6B6 |
PaxDbi | Q9Y6B6 |
PeptideAtlasi | Q9Y6B6 |
PRIDEi | Q9Y6B6 |
ProteomicsDBi | 86646 |
Protocols and materials databases
Antibodypediai | 26317, 259 antibodies |
DNASUi | 51128 |
Genome annotation databases
Ensembli | ENST00000402673; ENSP00000385432; ENSG00000152700 ENST00000439578; ENSP00000404997; ENSG00000152700 |
GeneIDi | 51128 |
KEGGi | hsa:51128 |
UCSCi | uc003kzq.4, human |
Organism-specific databases
CTDi | 51128 |
DisGeNETi | 51128 |
EuPathDBi | HostDB:ENSG00000152700.13 |
GeneCardsi | SAR1B |
HGNCi | HGNC:10535, SAR1B |
HPAi | ENSG00000152700, Low tissue specificity |
MalaCardsi | SAR1B |
MIMi | 246700, phenotype 607690, gene |
neXtProti | NX_Q9Y6B6 |
OpenTargetsi | ENSG00000152700 |
Orphaneti | 71, Chylomicron retention disease |
PharmGKBi | PA34943 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0077, Eukaryota |
GeneTreei | ENSGT00940000160154 |
HOGENOMi | CLU_040729_6_0_1 |
InParanoidi | Q9Y6B6 |
OMAi | FRWVAQY |
OrthoDBi | 1168548at2759 |
PhylomeDBi | Q9Y6B6 |
TreeFami | TF312890 |
Enzyme and pathway databases
PathwayCommonsi | Q9Y6B6 |
Reactomei | R-HSA-1655829, Regulation of cholesterol biosynthesis by SREBP (SREBF) R-HSA-204005, COPII-mediated vesicle transport R-HSA-2132295, MHC class II antigen presentation R-HSA-5694530, Cargo concentration in the ER R-HSA-8963888, Chylomicron assembly R-HSA-983170, Antigen Presentation: Folding, assembly and peptide loading of class I MHC |
Miscellaneous databases
BioGRID-ORCSi | 51128, 8 hits in 844 CRISPR screens |
ChiTaRSi | SAR1B, human |
GeneWikii | SAR1B |
GenomeRNAii | 51128 |
Pharosi | Q9Y6B6, Tbio |
PROi | PR:Q9Y6B6 |
RNActi | Q9Y6B6, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000152700, Expressed in biceps brachii and 237 other tissues |
ExpressionAtlasi | Q9Y6B6, baseline and differential |
Genevisiblei | Q9Y6B6, HS |
Family and domain databases
InterProi | View protein in InterPro IPR027417, P-loop_NTPase IPR005225, Small_GTP-bd_dom IPR006689, Small_GTPase_ARF/SAR IPR006687, Small_GTPase_SAR1 |
PANTHERi | PTHR45684, PTHR45684, 1 hit |
Pfami | View protein in Pfam PF00025, Arf, 1 hit |
PRINTSi | PR00328, SAR1GTPBP |
SUPFAMi | SSF52540, SSF52540, 1 hit |
TIGRFAMsi | TIGR00231, small_GTP, 1 hit |
PROSITEi | View protein in PROSITE PS51422, SAR1, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SAR1B_HUMAN | |
Accessioni | Q9Y6B6Primary (citable) accession number: Q9Y6B6 Secondary accession number(s): D3DQA4, Q567T4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 1, 2001 |
Last sequence update: | November 1, 1999 | |
Last modified: | December 2, 2020 | |
This is version 186 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations