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Q9Y6B6 (SAR1B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 131. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
GTP-binding protein SAR1b
Alternative name(s):
GTP-binding protein B
Short name=GTBPB
Gene names
Name:SAR1B
Synonyms:SARA2, SARB
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length198 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

Homodimer. Binds PREB. Part of the COPII coat complex. Binds to the cytoplasmic tails of target proteins in the endoplasmic reticulum By similarity.

Subcellular location

Endoplasmic reticulum membrane; Peripheral membrane protein By similarity. Golgi apparatusGolgi stack membrane; Peripheral membrane protein By similarity. Note: Associated with the endoplasmic reticulum and Golgi stacks, in particular in the juxta-nuclear Golgi region By similarity.

Tissue specificity

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

Involvement in disease

Chylomicron retention disease (CMRD) [MIM:246700]: An 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.7 Ref.8

Sequence similarities

Belongs to the small GTPase superfamily. SAR1 family.

Ontologies

Keywords
   Biological processER-Golgi transport
Protein transport
Transport
   Cellular componentEndoplasmic reticulum
Golgi apparatus
Membrane
   DiseaseDisease mutation
   LigandGTP-binding
Magnesium
Metal-binding
Nucleotide-binding
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processCOPII vesicle coating

Traceable author statement. Source: Reactome

ER to Golgi vesicle-mediated transport

Traceable author statement. Source: Reactome

GTP catabolic process

Traceable author statement. Source: GOC

antigen processing and presentation of exogenous peptide antigen via MHC class II

Traceable author statement. Source: Reactome

antigen processing and presentation of peptide antigen via MHC class I

Traceable author statement. Source: Reactome

cellular protein metabolic process

Traceable author statement. Source: Reactome

intracellular protein transport

Inferred from electronic annotation. Source: InterPro

membrane organization

Traceable author statement. Source: Reactome

post-translational protein modification

Traceable author statement. Source: Reactome

protein N-linked glycosylation via asparagine

Traceable author statement. Source: Reactome

small molecule metabolic process

Traceable author statement. Source: Reactome

   Cellular_componentER to Golgi transport vesicle membrane

Traceable author statement. Source: Reactome

Golgi cisterna membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

cytosol

Traceable author statement. Source: Reactome

endoplasmic reticulum membrane

Traceable author statement. Source: Reactome

   Molecular_functionGTP binding

Inferred from electronic annotation. Source: UniProtKB-KW

GTPase activity

Traceable author statement. Source: Reactome

metal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 198198GTP-binding protein SAR1b
PRO_0000206261

Regions

Nucleotide binding32 – 398GTP By similarity
Nucleotide binding75 – 784GTP By similarity
Nucleotide binding134 – 1374GTP By similarity

Sites

Metal binding341Magnesium By similarity
Metal binding751Magnesium By similarity

Natural variations

Natural variant111G → D in CMRD. Ref.8
VAR_059051
Natural variant371G → R in CMRD; loss of GDP/GTP-binding. Ref.6
VAR_016806
Natural variant751D → G in CMRD. Ref.8
VAR_059052
Natural variant1371D → N in CMRD; reduced affinity for GDP/GTP. Ref.6
Corresponds to variant rs28942109 [ dbSNP | Ensembl ].
VAR_016807
Natural variant1791S → R in CMRD; loss of GDP/GTP-binding. Ref.6
Corresponds to variant rs28942110 [ dbSNP | Ensembl ].
VAR_016808

Sequences

Sequence LengthMass (Da)Tools
Q9Y6B6 [UniParc].

Last modified November 1, 1999. Version 1.
Checksum: 3F567683D7F509E6

FASTA19822,410
        10         20         30         40         50         60 
MSFIFDWIYS GFSSVLQFLG LYKKTGKLVF LGLDNAGKTT LLHMLKDDRL GQHVPTLHPT 

        70         80         90        100        110        120 
SEELTIAGMT FTTFDLGGHV QARRVWKNYL PAINGIVFLV DCADHERLLE SKEELDSLMT 

       130        140        150        160        170        180 
DETIANVPIL ILGNKIDRPE AISEERLREM FGLYGQTTGK GSISLKELNA RPLEVFMCSV 

       190 
LKRQGYGEGF RWMAQYID 

« Hide

References

« Hide 'large scale' references
[1]Song H., Peng Y., Dai M., Huang Q., Mao Y., Zhang Q., Mao M., Fu G., Luo M., Chen J., Hu R.
Submitted (SEP-1998) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Pituitary tumor.
[2]"Cloning of a novel human cDNA homologous to murine GTP-binding protein homologue mRNA."
Zhou Y., Yu L., Gao J., Zhang P.Z., Wang X.K., Zhao S.Y.
Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Placenta.
[5]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[6]"Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders."
Jones B., Jones E.L., Bonney S.A., Patel H.N., Mensenkamp A.R., Eichenbaum-Voline S., Rudling M., Myrdal U., Annesi G., Naik S., Meadows N., Quattrone A., Islam S.A., Naoumova R.P., Angelin B., Infante R., Levy E., Roy C.C. expand/collapse author list , Freemont P.S., Scott J., Shoulders C.C.
Nat. Genet. 34:29-31(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMRD ARG-37; ASN-137 AND ARG-179.
[7]"SIL1 and SARA2 mutations in Marinesco-Sjogren and chylomicron retention diseases."
Annesi G., Aguglia U., Tarantino P., Annesi F., De Marco E.V., Civitelli D., Torroni A., Quattrone A.
Clin. Genet. 71:288-289(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN CMRD BUT NOT IN MSS.
[8]"Novel missense mutations of SAR1B gene in an infant with chylomicron retention disease."
Treepongkaruna S., Chongviriyaphan N., Suthutvoravut U., Charoenpipop D., Choubtum L., Wattanasirichaigoon D.
J. Pediatr. Gastroenterol. Nutr. 48:370-373(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMRD ASP-11 AND GLY-75.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001028675.1. NM_001033503.2.
NP_057187.1. NM_016103.3.
UniGeneHs.432984.

3D structure databases

ProteinModelPortalQ9Y6B6.
SMRQ9Y6B6. Positions 13-198.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119315. 1 interaction.
IntActQ9Y6B6. 1 interaction.
STRING9606.ENSP00000282606.

PTM databases

PhosphoSiteQ9Y6B6.

Polymorphism databases

DMDM14285769.

Proteomic databases

PaxDbQ9Y6B6.
PeptideAtlasQ9Y6B6.
PRIDEQ9Y6B6.

Protocols and materials databases

DNASU51128.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000402673; ENSP00000385432; ENSG00000152700.
ENST00000439578; ENSP00000404997; ENSG00000152700.
GeneID51128.
KEGGhsa:51128.
UCSCuc003kzq.3. human.

Organism-specific databases

CTD51128.
GeneCardsGC05M133971.
HGNCHGNC:10535. SAR1B.
HPAHPA006923.
MIM246700. phenotype.
607690. gene.
neXtProtNX_Q9Y6B6.
Orphanet71. Chylomicron retention disease.
PharmGKBPA34943.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1100.
HOGENOMHOG000163690.
HOVERGENHBG104997.
InParanoidQ9Y6B6.
KOK07953.
OMADEQLANC.
OrthoDBEOG7W1550.
PhylomeDBQ9Y6B6.
TreeFamTF312890.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
REACT_11123. Membrane Trafficking.
REACT_17015. Metabolism of proteins.
REACT_6900. Immune System.

Gene expression databases

ArrayExpressQ9Y6B6.
BgeeQ9Y6B6.
CleanExHS_SAR1B.
GenevestigatorQ9Y6B6.

Family and domain databases

Gene3D3.40.50.300. 1 hit.
InterProIPR027417. P-loop_NTPase.
IPR005225. Small_GTP-bd_dom.
IPR006689. Small_GTPase_ARF/SAR.
IPR006687. Small_GTPase_SAR1.
[Graphical view]
PANTHERPTHR11711:SF12. PTHR11711:SF12. 1 hit.
PfamPF00025. Arf. 1 hit.
[Graphical view]
PRINTSPR00328. SAR1GTPBP.
SMARTSM00178. SAR. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 1 hit.
TIGRFAMsTIGR00231. small_GTP. 1 hit.
PROSITEPS51422. SAR1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSAR1B.
GenomeRNAi51128.
NextBio53943.
PROQ9Y6B6.
SOURCESearch...

Entry information

Entry nameSAR1B_HUMAN
AccessionPrimary (citable) accession number: Q9Y6B6
Secondary accession number(s): D3DQA4, Q567T4
Entry history
Integrated into UniProtKB/Swiss-Prot: June 1, 2001
Last sequence update: November 1, 1999
Last modified: April 16, 2014
This is version 131 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM