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Protein

GTP-binding protein SAR1b

Gene

SAR1B

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

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 keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi34MagnesiumBy similarity1
Metal bindingi75MagnesiumBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi32 – 39GTPBy similarity8
Nucleotide bindingi75 – 78GTPBy similarity4
Nucleotide bindingi134 – 137GTPBy similarity4

GO - Molecular functioni

  • GTPase activity Source: GO_Central
  • GTP binding Source: UniProtKB-KW
  • metal ion binding Source: UniProtKB-KW

GO - Biological processi

Keywordsi

Biological processER-Golgi transport, Protein transport, Transport
LigandGTP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-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 SAR1b
Alternative name(s):
GTP-binding protein B
Short name:
GTBPB
Gene namesi
Name:SAR1B
Synonyms:SARA2, SARB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000152700.13
HGNCiHGNC:10535 SAR1B
MIMi607690 gene
neXtProtiNX_Q9Y6B6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, Membrane

Pathology & 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.
See also OMIM:246700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05905111G → D in CMRD. 1 Publication1
Natural variantiVAR_01680637G → R in CMRD; loss of GDP/GTP-binding. 1 PublicationCorresponds to variant dbSNP:rs121917846EnsemblClinVar.1
Natural variantiVAR_05905275D → G in CMRD. 1 PublicationCorresponds to variant dbSNP:rs1254114609Ensembl.1
Natural variantiVAR_016807137D → N in CMRD; reduced affinity for GDP/GTP. 1 PublicationCorresponds to variant dbSNP:rs28942109EnsemblClinVar.1
Natural variantiVAR_016808179S → R in CMRD; loss of GDP/GTP-binding. 1 PublicationCorresponds to variant dbSNP:rs28942110EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi51128
MalaCardsiSAR1B
MIMi246700 phenotype
OpenTargetsiENSG00000152700
Orphaneti71 Chylomicron retention disease
PharmGKBiPA34943

Chemistry databases

DrugBankiDB04315 Guanosine-5'-Diphosphate

Polymorphism and mutation databases

BioMutaiSAR1B
DMDMi14285769

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002062611 – 198GTP-binding protein SAR1bAdd BLAST198

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei164PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y6B6
MaxQBiQ9Y6B6
PaxDbiQ9Y6B6
PeptideAtlasiQ9Y6B6
PRIDEiQ9Y6B6
ProteomicsDBi86646

PTM databases

iPTMnetiQ9Y6B6
PhosphoSitePlusiQ9Y6B6
SwissPalmiQ9Y6B6

Expressioni

Tissue specificityi

Expressed in many tissues including small intestine, liver, muscle and brain.

Gene expression databases

BgeeiENSG00000152700 Expressed in 226 organ(s), highest expression level in biceps brachii
CleanExiHS_SAR1B
ExpressionAtlasiQ9Y6B6 baseline and differential
GenevisibleiQ9Y6B6 HS

Organism-specific databases

HPAiHPA006923
HPA048368

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 similarity

Protein-protein interaction databases

BioGridi119315, 21 interactors
IntActiQ9Y6B6, 3 interactors
STRINGi9606.ENSP00000385432

Structurei

3D structure databases

ProteinModelPortaliQ9Y6B6
SMRiQ9Y6B6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the small GTPase superfamily. SAR1 family.Curated

Phylogenomic databases

eggNOGiKOG0077 Eukaryota
ENOG410YIKI LUCA
GeneTreeiENSGT00550000074696
HOGENOMiHOG000163690
HOVERGENiHBG104997
InParanoidiQ9Y6B6
KOiK07953
OMAiWMAQYIN
OrthoDBiEOG091G0KFV
PhylomeDBiQ9Y6B6
TreeFamiTF312890

Family and domain databases

InterProiView protein in InterPro
IPR027417 P-loop_NTPase
IPR005225 Small_GTP-bd_dom
IPR006689 Small_GTPase_ARF/SAR
IPR006687 Small_GTPase_SAR1
PfamiView protein in Pfam
PF00025 Arf, 1 hit
PRINTSiPR00328 SAR1GTPBP
SUPFAMiSSF52540 SSF52540, 1 hit
TIGRFAMsiTIGR00231 small_GTP, 1 hit
PROSITEiView protein in PROSITE
PS51422 SAR1, 1 hit

Sequence (1+)i

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
« Hide
        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
Length:198
Mass (Da):22,410
Last modified:November 1, 1999 - v1
Checksum:i3F567683D7F509E6
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RD69D6RD69_HUMAN
GTP-binding protein SAR1b
SAR1B
170Annotation score:
Q9H029Q9H029_HUMAN
cDNA FLJ32259 fis, clone PROST10002...
SAR1B DKFZp434B2017
130Annotation score:
D6RAA2D6RAA2_HUMAN
GTP-binding protein SAR1b
SAR1B
103Annotation score:
D6RDB2D6RDB2_HUMAN
GTP-binding protein SAR1b
SAR1B
144Annotation score:
D6R9R5D6R9R5_HUMAN
GTP-binding protein SAR1b
SAR1B
118Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05905111G → D in CMRD. 1 Publication1
Natural variantiVAR_01680637G → R in CMRD; loss of GDP/GTP-binding. 1 PublicationCorresponds to variant dbSNP:rs121917846EnsemblClinVar.1
Natural variantiVAR_05905275D → G in CMRD. 1 PublicationCorresponds to variant dbSNP:rs1254114609Ensembl.1
Natural variantiVAR_016807137D → N in CMRD; reduced affinity for GDP/GTP. 1 PublicationCorresponds to variant dbSNP:rs28942109EnsemblClinVar.1
Natural variantiVAR_016808179S → 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
CCDSiCCDS4177.1
RefSeqiNP_001028675.1, NM_001033503.2
NP_057187.1, NM_016103.3
XP_016865010.1, XM_017009521.1
UniGeneiHs.432984

Genome annotation databases

EnsembliENST00000402673; ENSP00000385432; ENSG00000152700
ENST00000439578; ENSP00000404997; ENSG00000152700
GeneIDi51128
KEGGihsa:51128
UCSCiuc003kzq.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
CCDSiCCDS4177.1
RefSeqiNP_001028675.1, NM_001033503.2
NP_057187.1, NM_016103.3
XP_016865010.1, XM_017009521.1
UniGeneiHs.432984

3D structure databases

ProteinModelPortaliQ9Y6B6
SMRiQ9Y6B6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119315, 21 interactors
IntActiQ9Y6B6, 3 interactors
STRINGi9606.ENSP00000385432

Chemistry databases

DrugBankiDB04315 Guanosine-5'-Diphosphate

PTM databases

iPTMnetiQ9Y6B6
PhosphoSitePlusiQ9Y6B6
SwissPalmiQ9Y6B6

Polymorphism and mutation databases

BioMutaiSAR1B
DMDMi14285769

Proteomic databases

EPDiQ9Y6B6
MaxQBiQ9Y6B6
PaxDbiQ9Y6B6
PeptideAtlasiQ9Y6B6
PRIDEiQ9Y6B6
ProteomicsDBi86646

Protocols and materials databases

DNASUi51128
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000402673; ENSP00000385432; ENSG00000152700
ENST00000439578; ENSP00000404997; ENSG00000152700
GeneIDi51128
KEGGihsa:51128
UCSCiuc003kzq.4 human

Organism-specific databases

CTDi51128
DisGeNETi51128
EuPathDBiHostDB:ENSG00000152700.13
GeneCardsiSAR1B
HGNCiHGNC:10535 SAR1B
HPAiHPA006923
HPA048368
MalaCardsiSAR1B
MIMi246700 phenotype
607690 gene
neXtProtiNX_Q9Y6B6
OpenTargetsiENSG00000152700
Orphaneti71 Chylomicron retention disease
PharmGKBiPA34943
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0077 Eukaryota
ENOG410YIKI LUCA
GeneTreeiENSGT00550000074696
HOGENOMiHOG000163690
HOVERGENiHBG104997
InParanoidiQ9Y6B6
KOiK07953
OMAiWMAQYIN
OrthoDBiEOG091G0KFV
PhylomeDBiQ9Y6B6
TreeFamiTF312890

Enzyme and pathway databases

ReactomeiR-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

ChiTaRSiSAR1B human
GeneWikiiSAR1B
GenomeRNAii51128
PROiPR:Q9Y6B6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000152700 Expressed in 226 organ(s), highest expression level in biceps brachii
CleanExiHS_SAR1B
ExpressionAtlasiQ9Y6B6 baseline and differential
GenevisibleiQ9Y6B6 HS

Family and domain databases

InterProiView protein in InterPro
IPR027417 P-loop_NTPase
IPR005225 Small_GTP-bd_dom
IPR006689 Small_GTPase_ARF/SAR
IPR006687 Small_GTPase_SAR1
PfamiView protein in Pfam
PF00025 Arf, 1 hit
PRINTSiPR00328 SAR1GTPBP
SUPFAMiSSF52540 SSF52540, 1 hit
TIGRFAMsiTIGR00231 small_GTP, 1 hit
PROSITEiView protein in PROSITE
PS51422 SAR1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSAR1B_HUMAN
AccessioniPrimary (citable) accession number: Q9Y6B6
Secondary accession number(s): D3DQA4, Q567T4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 2001
Last sequence update: November 1, 1999
Last modified: November 7, 2018
This is version 172 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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