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Q9Y6B6

- SAR1B_HUMAN

UniProt

Q9Y6B6 - SAR1B_HUMAN

Protein

GTP-binding protein SAR1b

Gene

SAR1B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 136 (01 Oct 2014)
      Sequence version 1 (01 Nov 1999)
      Previous versions | rss
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    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)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi34 – 341MagnesiumBy similarity
    Metal bindingi75 – 751MagnesiumBy similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi32 – 398GTPBy similarity
    Nucleotide bindingi75 – 784GTPBy similarity
    Nucleotide bindingi134 – 1374GTPBy similarity

    GO - Molecular functioni

    1. GTPase activity Source: Reactome
    2. GTP binding Source: UniProtKB-KW
    3. metal ion binding Source: UniProtKB-KW

    GO - Biological processi

    1. antigen processing and presentation of exogenous peptide antigen via MHC class II Source: Reactome
    2. antigen processing and presentation of peptide antigen via MHC class I Source: Reactome
    3. cellular protein metabolic process Source: Reactome
    4. COPII vesicle coating Source: Reactome
    5. ER to Golgi vesicle-mediated transport Source: Reactome
    6. GTP catabolic process Source: GOC
    7. intracellular protein transport Source: InterPro
    8. membrane organization Source: Reactome
    9. post-translational protein modification Source: Reactome
    10. protein N-linked glycosylation via asparagine Source: Reactome
    11. small molecule metabolic process Source: Reactome

    Keywords - Biological processi

    ER-Golgi transport, Protein transport, Transport

    Keywords - Ligandi

    GTP-binding, Magnesium, Metal-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_121399. MHC class II antigen presentation.
    REACT_12507. COPII (Coat Protein 2) Mediated Vesicle Transport.
    REACT_147797. Regulation of cholesterol biosynthesis by SREBP (SREBF).
    REACT_75795. 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
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:10535. SAR1B.

    Subcellular locationi

    Endoplasmic reticulum membrane By similarity; Peripheral membrane protein By similarity. Golgi apparatusGolgi stack 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

    GO - Cellular componenti

    1. cytosol Source: Reactome
    2. endoplasmic reticulum membrane Source: Reactome
    3. ER to Golgi transport vesicle membrane Source: Reactome
    4. Golgi cisterna membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Endoplasmic reticulum, Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti11 – 111G → D in CMRD. 1 Publication
    VAR_059051
    Natural varianti37 – 371G → R in CMRD; loss of GDP/GTP-binding. 1 Publication
    VAR_016806
    Natural varianti75 – 751D → G in CMRD. 1 Publication
    VAR_059052
    Natural varianti137 – 1371D → N in CMRD; reduced affinity for GDP/GTP. 1 Publication
    Corresponds to variant rs28942109 [ dbSNP | Ensembl ].
    VAR_016807
    Natural varianti179 – 1791S → R in CMRD; loss of GDP/GTP-binding. 1 Publication
    Corresponds to variant rs28942110 [ dbSNP | Ensembl ].
    VAR_016808

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi246700. phenotype.
    Orphaneti71. Chylomicron retention disease.
    PharmGKBiPA34943.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 198198GTP-binding protein SAR1bPRO_0000206261Add
    BLAST

    Proteomic databases

    MaxQBiQ9Y6B6.
    PaxDbiQ9Y6B6.
    PeptideAtlasiQ9Y6B6.
    PRIDEiQ9Y6B6.

    PTM databases

    PhosphoSiteiQ9Y6B6.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    ArrayExpressiQ9Y6B6.
    BgeeiQ9Y6B6.
    CleanExiHS_SAR1B.
    GenevestigatoriQ9Y6B6.

    Organism-specific databases

    HPAiHPA006923.

    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. 1 interaction.
    IntActiQ9Y6B6. 1 interaction.
    STRINGi9606.ENSP00000282606.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y6B6.
    SMRiQ9Y6B6. Positions 13-198.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the small GTPase superfamily. SAR1 family.Curated

    Phylogenomic databases

    eggNOGiCOG1100.
    HOGENOMiHOG000163690.
    HOVERGENiHBG104997.
    InParanoidiQ9Y6B6.
    KOiK07953.
    OMAiDEQLANC.
    OrthoDBiEOG7W1550.
    PhylomeDBiQ9Y6B6.
    TreeFamiTF312890.

    Family and domain databases

    Gene3Di3.40.50.300. 1 hit.
    InterProiIPR027417. P-loop_NTPase.
    IPR005225. Small_GTP-bd_dom.
    IPR006689. Small_GTPase_ARF/SAR.
    IPR006687. Small_GTPase_SAR1.
    [Graphical view]
    PfamiPF00025. Arf. 1 hit.
    [Graphical view]
    PRINTSiPR00328. SAR1GTPBP.
    SMARTiSM00178. SAR. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 1 hit.
    TIGRFAMsiTIGR00231. small_GTP. 1 hit.
    PROSITEiPS51422. SAR1. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9Y6B6-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSFIFDWIYS GFSSVLQFLG LYKKTGKLVF LGLDNAGKTT LLHMLKDDRL    50
    GQHVPTLHPT SEELTIAGMT FTTFDLGGHV QARRVWKNYL PAINGIVFLV 100
    DCADHERLLE SKEELDSLMT DETIANVPIL ILGNKIDRPE AISEERLREM 150
    FGLYGQTTGK GSISLKELNA RPLEVFMCSV LKRQGYGEGF RWMAQYID 198
    Length:198
    Mass (Da):22,410
    Last modified:November 1, 1999 - v1
    Checksum:i3F567683D7F509E6
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti11 – 111G → D in CMRD. 1 Publication
    VAR_059051
    Natural varianti37 – 371G → R in CMRD; loss of GDP/GTP-binding. 1 Publication
    VAR_016806
    Natural varianti75 – 751D → G in CMRD. 1 Publication
    VAR_059052
    Natural varianti137 – 1371D → N in CMRD; reduced affinity for GDP/GTP. 1 Publication
    Corresponds to variant rs28942109 [ dbSNP | Ensembl ].
    VAR_016807
    Natural varianti179 – 1791S → R in CMRD; loss of GDP/GTP-binding. 1 Publication
    Corresponds to variant rs28942110 [ dbSNP | Ensembl ].
    VAR_016808

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_006714704.1. XM_006714641.1.
    UniGeneiHs.432984.

    Genome annotation databases

    EnsembliENST00000402673; ENSP00000385432; ENSG00000152700.
    ENST00000439578; ENSP00000404997; ENSG00000152700.
    GeneIDi51128.
    KEGGihsa:51128.
    UCSCiuc003kzq.3. human.

    Polymorphism databases

    DMDMi14285769.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_006714704.1. XM_006714641.1.
    UniGenei Hs.432984.

    3D structure databases

    ProteinModelPortali Q9Y6B6.
    SMRi Q9Y6B6. Positions 13-198.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119315. 1 interaction.
    IntActi Q9Y6B6. 1 interaction.
    STRINGi 9606.ENSP00000282606.

    PTM databases

    PhosphoSitei Q9Y6B6.

    Polymorphism databases

    DMDMi 14285769.

    Proteomic databases

    MaxQBi Q9Y6B6.
    PaxDbi Q9Y6B6.
    PeptideAtlasi Q9Y6B6.
    PRIDEi Q9Y6B6.

    Protocols and materials databases

    DNASUi 51128.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000402673 ; ENSP00000385432 ; ENSG00000152700 .
    ENST00000439578 ; ENSP00000404997 ; ENSG00000152700 .
    GeneIDi 51128.
    KEGGi hsa:51128.
    UCSCi uc003kzq.3. human.

    Organism-specific databases

    CTDi 51128.
    GeneCardsi GC05M133971.
    HGNCi HGNC:10535. SAR1B.
    HPAi HPA006923.
    MIMi 246700. phenotype.
    607690. gene.
    neXtProti NX_Q9Y6B6.
    Orphaneti 71. Chylomicron retention disease.
    PharmGKBi PA34943.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1100.
    HOGENOMi HOG000163690.
    HOVERGENi HBG104997.
    InParanoidi Q9Y6B6.
    KOi K07953.
    OMAi DEQLANC.
    OrthoDBi EOG7W1550.
    PhylomeDBi Q9Y6B6.
    TreeFami TF312890.

    Enzyme and pathway databases

    Reactomei REACT_121399. MHC class II antigen presentation.
    REACT_12507. COPII (Coat Protein 2) Mediated Vesicle Transport.
    REACT_147797. Regulation of cholesterol biosynthesis by SREBP (SREBF).
    REACT_75795. Antigen Presentation: Folding, assembly and peptide loading of class I MHC.

    Miscellaneous databases

    GeneWikii SAR1B.
    GenomeRNAii 51128.
    NextBioi 53943.
    PROi Q9Y6B6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y6B6.
    Bgeei Q9Y6B6.
    CleanExi HS_SAR1B.
    Genevestigatori Q9Y6B6.

    Family and domain databases

    Gene3Di 3.40.50.300. 1 hit.
    InterProi IPR027417. P-loop_NTPase.
    IPR005225. Small_GTP-bd_dom.
    IPR006689. Small_GTPase_ARF/SAR.
    IPR006687. Small_GTPase_SAR1.
    [Graphical view ]
    Pfami PF00025. Arf. 1 hit.
    [Graphical view ]
    PRINTSi PR00328. SAR1GTPBP.
    SMARTi SM00178. SAR. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 1 hit.
    TIGRFAMsi TIGR00231. small_GTP. 1 hit.
    PROSITEi PS51422. SAR1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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. 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    6. 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. Cited for: VARIANTS CMRD ASP-11 AND GLY-75.

    Entry informationi

    Entry nameiSAR1B_HUMAN
    AccessioniPrimary (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: October 1, 2014
    This is version 136 of the entry and version 1 of the sequence. [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. Human chromosome 5
      Human chromosome 5: entries, gene names and cross-references to MIM
    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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3