LOCUS       NM_016103               6517 bp    mRNA    linear   PRI 12-DEC-2024
DEFINITION  Homo sapiens secretion associated Ras related GTPase 1B (SAR1B),
            transcript variant 2, mRNA.
ACCESSION   NM_016103
VERSION     NM_016103.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6517)
  AUTHORS   Tang,V.T., Xiang,J., Chen,Z., McCormick,J., Abbineni,P.S.,
            Chen,X.W., Hoenerhoff,M., Emmer,B.T., Khoriaty,R., Lin,J.D. and
            Ginsburg,D.
  TITLE     Functional overlap between the mammalian Sar1a and Sar1b paralogs
            in vivo
  JOURNAL   Proc Natl Acad Sci U S A 121 (19), e2322164121 (2024)
   PUBMED   38687799
  REMARK    GeneRIF: Functional overlap between the mammalian Sar1a and Sar1b
            paralogs in vivo.
REFERENCE   2  (bases 1 to 6517)
  AUTHORS   Huang,D., Xu,B., Liu,L., Wu,L., Zhu,Y., Ghanbarpour,A., Wang,Y.,
            Chen,F.J., Lyu,J., Hu,Y., Kang,Y., Zhou,W., Wang,X., Ding,W.,
            Li,X., Jiang,Z., Chen,J., Zhang,X., Zhou,H., Li,J.Z., Guo,C.,
            Zheng,W., Zhang,X., Li,P., Melia,T., Reinisch,K. and Chen,X.W.
  TITLE     TMEM41B acts as an ER scramblase required for lipoprotein
            biogenesis and lipid homeostasis
  JOURNAL   Cell Metab 33 (8), 1655-1670 (2021)
   PUBMED   34015269
REFERENCE   3  (bases 1 to 6517)
  AUTHORS   Chen,J., Ou,Y., Luo,R., Wang,J., Wang,D., Guan,J., Li,Y., Xia,P.,
            Chen,P.R. and Liu,Y.
  TITLE     SAR1B senses leucine levels to regulate mTORC1 signalling
  JOURNAL   Nature 596 (7871), 281-284 (2021)
   PUBMED   34290409
  REMARK    GeneRIF: SAR1B senses leucine levels to regulate mTORC1 signalling.
REFERENCE   4  (bases 1 to 6517)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 6517)
  AUTHORS   Auclair,N., Sane,A.T., Ahmarani,L., Patey,N., Beaulieu,J.F.,
            Peretti,N., Spahis,S. and Levy,E.
  TITLE     Sar1b mutant mice recapitulate gastrointestinal abnormalities
            associated with chylomicron retention disease
  JOURNAL   J Lipid Res 62, 100085 (2021)
   PUBMED   33964306
  REMARK    GeneRIF: Sar1b mutant mice recapitulate gastrointestinal
            abnormalities associated with chylomicron retention disease.
REFERENCE   6  (bases 1 to 6517)
  AUTHORS   He,H., Dai,F., Yu,L., She,X., Zhao,Y., Jiang,J., Chen,X. and
            Zhao,S.
  TITLE     Identification and characterization of nine novel human small
            GTPases showing variable expressions in liver cancer tissues
  JOURNAL   Gene Expr 10 (5-6), 231-242 (2002)
   PUBMED   12450215
REFERENCE   7  (bases 1 to 6517)
  AUTHORS   Kirchhausen,T.
  TITLE     Three ways to make a vesicle
  JOURNAL   Nat Rev Mol Cell Biol 1 (3), 187-198 (2000)
   PUBMED   11252894
  REMARK    Review article
            Erratum:[Nat Rev Mol Cell Biol 2001 Mar;2(3):216]
REFERENCE   8  (bases 1 to 6517)
  AUTHORS   Aguglia,U., Annesi,G., Pasquinelli,G., Spadafora,P.,
            Gambardella,A., Annesi,F., Pasqua,A.A., Cavalcanti,F.,
            Crescibene,L., Bagala,A., Bono,F., Oliveri,R.L., Valentino,P.,
            Zappia,M. and Quattrone,A.
  TITLE     Vitamin E deficiency due to chylomicron retention disease in
            Marinesco-Sjogren syndrome
  JOURNAL   Ann Neurol 47 (2), 260-264 (2000)
   PUBMED   10665502
REFERENCE   9  (bases 1 to 6517)
  AUTHORS   Lippincott-Schwartz,J., Roberts,T.H. and Hirschberg,K.
  TITLE     Secretory protein trafficking and organelle dynamics in living
            cells
  JOURNAL   Annu Rev Cell Dev Biol 16, 557-589 (2000)
   PUBMED   11031247
  REMARK    Review article
REFERENCE   10 (bases 1 to 6517)
  AUTHORS   Burnett,J.R., Hooper,A.J. and Hegele,R.A.
  TITLE     Chylomicron Retention Disease
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   35344313
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC093034.1 and AC106763.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_016103.3.
            
            Summary: The protein encoded by this gene is a small GTPase that
            acts as a homodimer. The encoded protein is activated by the
            guanine nucleotide exchange factor PREB and is involved in protein
            transport from the endoplasmic reticulum to the Golgi. This protein
            is part of the COPII coat complex. Defects in this gene are a cause
            of chylomicron retention disease (CMRD), also known as Anderson
            disease (ANDD). Two transcript variants encoding the same protein
            have been found for this gene. [provided by RefSeq, Mar 2010].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 both encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.3442275.1,
                                           SRR14038192.3109427.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000402673.7/ ENSP00000385432.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1234              BC093034.1         16-1249
            1235-6517           AC106763.2         75956-81238
FEATURES             Location/Qualifiers
     source          1..6517
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.1"
     gene            1..6517
                     /gene="SAR1B"
                     /gene_synonym="ANDD; CMRD; GTBPB; SARA2"
                     /note="secretion associated Ras related GTPase 1B"
                     /db_xref="GeneID:51128"
                     /db_xref="HGNC:HGNC:10535"
                     /db_xref="MIM:607690"
     exon            1..101
                     /gene="SAR1B"
                     /gene_synonym="ANDD; CMRD; GTBPB; SARA2"
                     /inference="alignment:Splign:2.1.0"
     exon            102..177
                     /gene="SAR1B"
                     /gene_synonym="ANDD; CMRD; GTBPB; SARA2"
                     /inference="alignment:Splign:2.1.0"
     CDS             120..716
                     /gene="SAR1B"
                     /gene_synonym="ANDD; CMRD; GTBPB; SARA2"
                     /EC_number="3.6.5.2"
                     /note="2310075M17Rik; GTP-binding protein Sara;
                     GTP-binding protein SAR1b; GTP-binding protein B; SAR1a
                     gene homolog 2; SAR1 homolog B"
                     /codon_start=1
                     /product="small COPII coat GTPase SAR1B"
                     /protein_id="NP_057187.1"
                     /db_xref="CCDS:CCDS4177.1"
                     /db_xref="GeneID:51128"
                     /db_xref="HGNC:HGNC:10535"
                     /db_xref="MIM:607690"
                     /translation="MSFIFDWIYSGFSSVLQFLGLYKKTGKLVFLGLDNAGKTTLLHM
                     LKDDRLGQHVPTLHPTSEELTIAGMTFTTFDLGGHVQARRVWKNYLPAINGIVFLVDC
                     ADHERLLESKEELDSLMTDETIANVPILILGNKIDRPEAISEERLREMFGLYGQTTGK
                     GSISLKELNARPLEVFMCSVLKRQGYGEGFRWMAQYID"
     exon            178..297
                     /gene="SAR1B"
                     /gene_synonym="ANDD; CMRD; GTBPB; SARA2"
                     /inference="alignment:Splign:2.1.0"
     exon            298..363
                     /gene="SAR1B"
                     /gene_synonym="ANDD; CMRD; GTBPB; SARA2"
                     /inference="alignment:Splign:2.1.0"
     exon            364..467
                     /gene="SAR1B"
                     /gene_synonym="ANDD; CMRD; GTBPB; SARA2"
                     /inference="alignment:Splign:2.1.0"
     exon            468..599
                     /gene="SAR1B"
                     /gene_synonym="ANDD; CMRD; GTBPB; SARA2"
                     /inference="alignment:Splign:2.1.0"
     exon            600..6517
                     /gene="SAR1B"
                     /gene_synonym="ANDD; CMRD; GTBPB; SARA2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1212..1217
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SAR1B"
                     /gene_synonym="ANDD; CMRD; GTBPB; SARA2"
                     /note="hexamer: AATAAA"
     polyA_site      1237
                     /gene="SAR1B"
                     /gene_synonym="ANDD; CMRD; GTBPB; SARA2"
                     /note="major polyA site"
     regulatory      1794..1799
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SAR1B"
                     /gene_synonym="ANDD; CMRD; GTBPB; SARA2"
                     /note="hexamer: AATAAA"
     polyA_site      1817
                     /gene="SAR1B"
                     /gene_synonym="ANDD; CMRD; GTBPB; SARA2"
                     /note="major polyA site"
     regulatory      6490..6495
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SAR1B"
                     /gene_synonym="ANDD; CMRD; GTBPB; SARA2"
                     /note="hexamer: AATAAA"
     polyA_site      6517
                     /gene="SAR1B"
                     /gene_synonym="ANDD; CMRD; GTBPB; SARA2"
                     /note="major polyA site"
ORIGIN      
        1 gctgatgcga actggggcca cggcagccat cgcgctttgc agttcggtct cctggtgtac
       61 ggccaacgcc aagtagggga ttgcgttccc tccagtcgca gaccctatca gatttggata
      121 tgtccttcat atttgattgg atttacagtg gtttcagcag tgtgctacag tttttaggat
      181 tatataagaa aactggtaaa ctggtatttc ttggattgga taatgcagga aaaacaacat
      241 tgctacacat gctaaaagat gacagacttg gacaacatgt cccaacatta catcccactt
      301 ccgaagaact gaccattgct ggcatgacgt ttacaacttt tgatctgggt ggacatgttc
      361 aagctcgaag agtgtggaaa aactaccttc ctgctatcaa tggcattgta tttctggtgg
      421 attgtgcaga ccacgaaagg ctgttagagt caaaagaaga acttgattca ctaatgacag
      481 atgaaaccat tgctaatgtg cctatactga ttcttgggaa taagatcgac agacctgaag
      541 ccatcagtga agagaggttg cgagagatgt ttggtttata tggtcagaca acaggaaagg
      601 ggagtatatc tctgaaagaa ctgaatgccc gacccttaga agttttcatg tgtagtgtgc
      661 tcaaaagaca aggttacgga gaaggcttcc gctggatggc acagtacatt gattaacaca
      721 aactcacatt ggttccaggt ctcaacgttc aggcttactc agagatttga ttgctcaaca
      781 tgcataactt gaattcaata gacttttgct ggttataaaa cagatgtttt ttagattatt
      841 aatattaaat caacttaatt tgaatgagaa ttgaaaactg attcaagtaa gtttgagtat
      901 cacaatgtta gctttctaat tccataaaag tacttggttt ttacagttta taatctgaca
      961 tcaccccagc gccatttgta aagagcaact ttccagcagt acatttgaag cactttttaa
     1021 caacatgaaa ctataaacca tatttaaaag ctcatcatgt taaatttttt atgtactttt
     1081 ctggaactag tttttaaatt ttagattata tgtccaccta tcttaagtgt acagttaata
     1141 attagcttat tcaatgattg catgatgcct tacagttttc aataactttt tttcttatgc
     1201 aaacgtcatg caataaaaca aactctaatg tttggcatcc ttgttgggca aatgtttcat
     1261 ttaaatgtgt cttatctagc tagtatactc tgaaaatttg agtatttaat attaggcata
     1321 tgaagtggtt gttgggaaag gagattcctt cagaatattt agaatagcgt ttaaggctct
     1381 caaggcttag gtatttacca tgagatggtt gtggtcagtt gcacctgata ccatgtatcc
     1441 ctgaatcatg tgtattttta ttagtaatgc agccactacc attgctgatg gggtctgtgt
     1501 cctagtccct gtgggattgg ccttctgaag aaaagcacat ttatggtaca caaggttgat
     1561 tctcagtttg gtaggctcta tagttccatc ccagctgtct aattctgaag tgctccagtc
     1621 ttattggtgc ccaatggggt aatctgtgcc tcttccccaa aagcaatgac aggcaccagt
     1681 gtctccacat ttagatatat tcccagtctc tgtacattta acagtactct ctggggcaag
     1741 caataagtag gaccttgtgt gcagtttcat tgtagagaca tgtatatctg aggaataaaa
     1801 cagcttgttc tgtgtcagtc tgagatatgt ggagattttg ttcctatcct atagctcttt
     1861 tgtattcttt ggcatatttt atatcctggt agaagaaaac aagtgcttgt ttccaatttt
     1921 cttttttctt atttgctctc aggtagttct tactccatac aacaaagact ttttgtttgt
     1981 tgggcttttt tttttttttt ttttttgctc tgtttcattt tgttttagag acggggtttc
     2041 accatgttgt ccaggctggt ctcaaactcc tgacctcaag tgatctgccc gccttggcct
     2101 cccaaagttc tgggattata ggcgtgagct accatgcctg acctgacttt tgtttttaga
     2161 tattatgctt gccatgtgat agggcctgca agcctcattg ctaggcttac taagaaaatt
     2221 ttagtttttc aaaagcatta taatttccta agaaactgaa ttcttttttt atatgtttga
     2281 gattcccatc attagtaata taagatgaaa ggtaagtgcc aaaaatgtat ttttaaagac
     2341 cctcaagttt aagatttatc ctgattataa gccaagtttt atagtatatt taaccaattc
     2401 catcaagaat aattttaata tcaaaaatta gtgttttctg tagccattgt ccatgtcaga
     2461 gttacagtcc tttttgtcat tgataatata acctatgaag cagataagga ttgaggaata
     2521 tgactggaag gaattactat ttagctaagc tgacaaggtc gcttcttaag atgacatttg
     2581 gtttcagtaa tctgactatt ctgttttcac tttcatcttc tttctaaatg aaaacaaaag
     2641 tgctccctcc cttcctggaa acctcagtaa cactatggga aaagtagaac atgacattgc
     2701 agcctattga tttcttcttc cagataggtt taaagtactc cttaagttct gactaaatag
     2761 aactaagcct tattaaaaat aactgcctct tgttcatgtt atctgtacct tcagggacct
     2821 gcctttcttc aagtatttcc tagagtatct attatgatac tgaagaagct aattatttgt
     2881 gttgtaaatg ggtataaatg aaaaaaaaac atactggttt ctctagccag gaaaaatgct
     2941 ttctggtgta atatatcttg ctccagaacc ctcattctaa ttgtaacact aggatcaaag
     3001 aaacaaagtc actttgtgga ccacagctaa actgtggata ttttcccaaa gacataagat
     3061 ttttatggcc cgagcctcta gaaaggaagc catgtttagg agcaaccagc tttcctccca
     3121 gctttagggg gcagagttcc tgagccagag gacttactgt ccagctttga gaacctctcc
     3181 agagtatatg cactgggtac tgctcttttt caagagaacc aaattaagag gatggcaaga
     3241 aacagtagaa gcacagagga aagacaactc tgcatgtgcc tgtgtgaatg tgtgcatcca
     3301 tggagtattt cccaggtaaa tactagtact ggggacatag gctaattgtg tgtcccacac
     3361 tgcaagatgc tagggcgtag ttaacactgt ggtatacata caaatcaggc actgtccaaa
     3421 agatttttta aaatctaaag tctgaaatgt aaaaatataa ggtctcaacc cacttttaca
     3481 cttttaaaga gatcccatac ctgtttcact gactgccgtt aattacactt ttggatcaca
     3541 gctggttaaa ttgatagatt tcagtttatc tcagtgaatt tttagaatgg agattatagc
     3601 attttttaat tggagaacag acatttccta aagtatatga aaaaaaatta ttcactgttg
     3661 gtttaaacca gtatctttgt atgagtgcca aagatatatg aacacagata ctgcctgtgc
     3721 agacctaaat tttagttttg tgtacctgga tccatataca aattttttgt ggtttatagc
     3781 ataaaagcag aacgttgttt ctttcttagt tttcaaccgg ctcatctttt gtttttgttt
     3841 tttgtttttt tgttttttgt tttttttgag atggagtctt gctttgttgc ccaggctaga
     3901 gtgcagtggc acaatctctg cttactgcaa cctccacctc cggggttcaa gtgattctcc
     3961 tgcctcagcc tcctgagtag ctgggactac aggcgcgcac caccatgccc ggctaatttt
     4021 tgtattttta gtagagatgg ggtttcacta tgttggccag gctggtctcg aactcctgac
     4081 ctcgtgatct gcccacctca gcctcccaaa gtgctgggat tacaggcgtg agccgccatg
     4141 cccggccaat tttcaactgg cccatacttt atagtgatgg aaagcgcata aactacttgt
     4201 aaatcattaa aatagggtga taactgtgat aatagtgttt cttgcattct agaaaattat
     4261 tttattaact acattcaaaa cccagcattt cacaggttcc atcattagaa acagtatagt
     4321 tctagttaac atgattggag agtttcaggg gaaaggttta cattttctga aactgtattt
     4381 ggtatgtgac tcaatgtggt atttcagtct tgttagtcac ttacatgact gacgtttgca
     4441 aggatttatt gccaagtaaa atttgaccag agtgcactga gaatagctac ataaggggaa
     4501 atctctcaaa attccttctg ttcatttaat ttggagcata ttgtttaaat cattttaaac
     4561 atatgtaaaa agttgaagca ttaaaaaatc ttcaagaaac aatgaaaaaa tagaaattag
     4621 caaacataag tttcttaatg caaaattaat agtgaataaa atatagccta cattaaaagc
     4681 cagaggcttt gctataaata taagagttta gaaaaacagt gtgcttcaat taaggactaa
     4741 attatcaaaa ctgcatgttt gttttttctt ttcttttctt ttttttttga gatgaagtct
     4801 cactctgttg cccaggctgg agtgcagtgg tgcgatcttg gctcactgca acctctgctt
     4861 cccaggttca agcgattctc gtgcctcacc atcccgagta gctgggatta caggtgcacc
     4921 acaccatgcc cagttaattt ttgtattttt agtagagaca gggtttcatt atttggccag
     4981 gctggtctcg agctcctgat cttaagtgat ccactcgcct cggcctccca aagtgctggg
     5041 attatacaca tgagccactg tgcccagcct aaaactacat gttgaagctt ccggtcattt
     5101 ccattattat ccttcttttg aaattcaagt tagtgctttt taaccaaata aaagaagaac
     5161 cagctcttgg gatatgtgac tctgcctctg tataaagtga ctggaatttt gttaaaaccg
     5221 tgtttccact tctgaaccct gttaccattc cccctcacaa atccccaccc aacacctgga
     5281 ttttaaagat cctccagtgt caagggaagc cacagagtct attaaagagg cagttctgaa
     5341 ccaattaatt tttgtcctta taatttagag cattaaatag ctaatatatt taatggcact
     5401 aattgttgtt cacggctttc atcatacttt taaacagaat ccaaagtatt caaaggaaag
     5461 taagcgaagt tatccaaagc caactttgtt tcaggtgtgt cccctgcccc aaatagattt
     5521 tagggcagaa atagaaaact gagtttacac agaactattt ttggaaaagc tgcactggag
     5581 tagatggatt cttcttcagc atactttttt gtttgtttgt ttgagatgga gtcttgcttt
     5641 gtcacccagg ctggagtgca gtggtgtgat ctccactcac tgcaacctcc acctcccagc
     5701 ttcaagtgat tctcctgcct caaccttcca agtagcttgg attacaggcg tgcgccacca
     5761 cagctggcta atatttgtat tgttagtaga gacagggttt caccatgttg tccaggcttg
     5821 tcgaacttct gacctcacgt gatccacctg cctcagcctc ccaaagtgct agattatagg
     5881 cgtgaaccac tgcgcccggc cagcatgcat tttaaaagtg gcttagattt agttttaaat
     5941 attttggggt gaaaggcagg aacagttctg tttttgacat acaggttttc tttgggattg
     6001 ttttcatttt caagtataga ttcatgtcag aatggccaac ttaacgtggg tttctgtatt
     6061 ccctggtgtt gctcttaacc tgaactcata atcagttgcc atactgaggc aagagcactc
     6121 agggtgaaca tagtcaagtt actttaaaag tgataaaagt gtttttccat ggtgaaacct
     6181 tcagtatttg gctgaatgta aagtatgttg aagtggtata ttgatggtaa gttgttaatc
     6241 actaaccttg tttgcacttt tgtacaccac tgcttgcact aggatcttgg tgtgaatttt
     6301 caattgtttt acagtgtata cagattatta aggataattt atataaagat gtttctgttt
     6361 aactttgtgt gttttacaac aaagagctat aatagatggt taaacgtttt tgaattgtgt
     6421 ttatatgtta gtttgattat gttctattat cttttcacct gccatgaatt tgagtgttag
     6481 gaagggaaaa ataaaatact aatctggtct tgaagaa
//
