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    Sec23b SEC23 homolog B, COPII coat complex component [ Mus musculus (house mouse) ]

    Gene ID: 27054, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Sec23bprovided by MGI
    Official Full Name
    SEC23 homolog B, COPII coat complex componentprovided by MGI
    Primary source
    MGI:MGI:1350925
    See related
    Ensembl:ENSMUSG00000027429 AllianceGenome:MGI:1350925
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    Predicted to enable GTPase activator activity. Predicted to be involved in COPII-coated vesicle cargo loading. Located in perinuclear region of cytoplasm. Human ortholog(s) of this gene implicated in Cowden syndrome 7 and congenital dyserythropoietic anemia type II. Orthologous to human SEC23B (SEC23 homolog B, COPII coat complex component). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in placenta adult (RPKM 24.3), large intestine adult (RPKM 23.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Sec23b in Genome Data Viewer
    Location:
    2 G1; 2 71.02 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (144398165..144432673)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (144556229..144590753)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene polymerase (RNA) III (DNA directed) polypeptide F Neighboring gene STARR-positive B cell enhancer ABC_E1603 Neighboring gene retinoblastoma binding protein 9, serine hydrolase Neighboring gene predicted gene, 34292 Neighboring gene small integral membrane protein 26 Neighboring gene D-tyrosyl-tRNA deacylase 1 Neighboring gene STARR-seq mESC enhancer starr_05919 Neighboring gene CWC22 spliceosome-associated protein homolog pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. SEC23B is required for pancreatic acinar cell function in adult mice. Khoriaty R, et al. Mol Biol Cell, 2017 Jul 15. PMID 28539403, Free PMC Article
    2. Absence of a red blood cell phenotype in mice with hematopoietic deficiency of SEC23B. Khoriaty R, et al. Mol Cell Biol, 2014 Oct 1. PMID 25071156, Free PMC Article
    3. A common human missense mutation of vesicle coat protein SEC23B leads to growth restriction and chronic pancreatitis in mice. Wei W, et al. J Biol Chem, 2022 Jan. PMID 34954140, Free PMC Article
    4. Functions of the COPII gene paralogs SEC23A and SEC23B are interchangeable in vivo. Khoriaty R, et al. Proc Natl Acad Sci U S A, 2018 Aug 14. PMID 30065114, Free PMC Article
    5. Pancreatic SEC23B deficiency is sufficient to explain the perinatal lethality of germline SEC23B deficiency in mice. Khoriaty R, et al. Sci Rep, 2016 Jun 14. PMID 27297878, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A common human missense mutation of vesicle coat protein SEC23B leads to growth restriction and chronic pancreatitis in mice.
      Title: A common human missense mutation of vesicle coat protein SEC23B leads to growth restriction and chronic pancreatitis in mice.
    2. these data demonstrate an equivalent function for SEC23A/B, with evolutionary shifts in the transcription program likely accounting for the distinct phenotypes of SEC23A/B deficiency within and across species, a paradigm potentially applicable to other sets of paralogous genes.
      Title: Functions of the COPII gene paralogs SEC23A and SEC23B are interchangeable in vivo.
    3. SEC23B but not SEC23A is essential for murine pancreatic development.
      Title: Pancreatic SEC23B deficiency is sufficient to explain the perinatal lethality of germline SEC23B deficiency in mice.
    4. Acinar Sec23b deletion results in induction of ER stress and increased apoptosis in the pancreas, potentially explaining the loss of pancreatic cells and decreased pancreatic weight. These findings demonstrate that SEC23B is required for normal function of pancreatic acinar cells in adult mice.
      Title: SEC23B is required for pancreatic acinar cell function in adult mice.
    5. Results show that transplantation of SEC23B-deficient hematopoietic stem cells does not result in a hematopoietic stem cells phenotype.
      Title: Absence of a red blood cell phenotype in mice with hematopoietic deficiency of SEC23B.
    6. In SEC23B-deficient embryonic pancreas, defects occur in exocrine and endocrine tissues shortly after differentiation.
      Title: SEC23B is required for the maintenance of murine professional secretory tissues.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Gene trapped (1) 
    • Targeted (5)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in COPII-coated vesicle budding IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in COPII-coated vesicle cargo loading IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of COPII vesicle coat IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of COPII vesicle coat IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endomembrane system ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in endoplasmic reticulum exit site IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein transport protein Sec23B
    Names
    SEC23-related protein B

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001252543.2 → NP_001239472.1  protein transport protein Sec23B isoform 1

      See identical proteins and their annotated locations for NP_001239472.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 6. Variants 1, 2, 3, 4, 6, and 7 all encode the same isoform (1).
      Source sequence(s)
      AL808119
      Consensus CDS
      CCDS16822.1
      UniProtKB/Swiss-Prot
      A2ANA1, Q3U6B3, Q99K49, Q9D662, Q9QZ68
      UniProtKB/TrEMBL
      Q3TAW4, Q3TYS4, Q3UKB4
      Conserved Domains (1) summary
      PLN00162
      Location:12 → 765
      PLN00162; transport protein sec23; Provisional

    2. NM_001252544.2 → NP_001239473.1  protein transport protein Sec23B isoform 1

      See identical proteins and their annotated locations for NP_001239473.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 6. Variants 1, 2, 3, 4, 6, and 7 all encode the same isoform (1).
      Source sequence(s)
      AL808119
      Consensus CDS
      CCDS16822.1
      UniProtKB/Swiss-Prot
      A2ANA1, Q3U6B3, Q99K49, Q9D662, Q9QZ68
      UniProtKB/TrEMBL
      Q3TAW4, Q3TYS4, Q3UKB4
      Conserved Domains (1) summary
      PLN00162
      Location:12 → 765
      PLN00162; transport protein sec23; Provisional

    3. NM_001252545.2 → NP_001239474.1  protein transport protein Sec23B isoform 1

      See identical proteins and their annotated locations for NP_001239474.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 6. Variants 1, 2, 3, 4, 6, and 7 all encode the same isoform (1).
      Source sequence(s)
      AL808119
      Consensus CDS
      CCDS16822.1
      UniProtKB/Swiss-Prot
      A2ANA1, Q3U6B3, Q99K49, Q9D662, Q9QZ68
      UniProtKB/TrEMBL
      Q3TAW4, Q3TYS4, Q3UKB4
      Conserved Domains (1) summary
      PLN00162
      Location:12 → 765
      PLN00162; transport protein sec23; Provisional

    4. NM_001281816.1 → NP_001268745.1  protein transport protein Sec23B isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and represents use of an alternate promoter, compared to variant 1. This results in an isoform (2) with a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AK029661, CF724836, CK619007, D18665
      UniProtKB/TrEMBL
      Q8CDS4
      Related
      ENSMUST00000128210.2
      Conserved Domains (1) summary
      cl27110
      Location:3 → 613
      zf-Sec23_Sec24; Sec23/Sec24 zinc finger

    5. NM_001355379.2 → NP_001342308.1  protein transport protein Sec23B isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) represents the longest transcript and encodes the longer isoform (1). Variants 1, 2, 3, 4, 6, and 7 all encode the same isoform (1).
      Source sequence(s)
      AL808119
      Consensus CDS
      CCDS16822.1
      UniProtKB/Swiss-Prot
      A2ANA1, Q3U6B3, Q99K49, Q9D662, Q9QZ68
      UniProtKB/TrEMBL
      Q3TAW4, Q3TYS4, Q3UKB4
      Conserved Domains (1) summary
      PLN00162
      Location:12 → 765
      PLN00162; transport protein sec23; Provisional

    6. NM_001355380.2 → NP_001342309.1  protein transport protein Sec23B isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 6. Variants 1, 2, 3, 4, 6, and 7 all encode the same isoform (1).
      Source sequence(s)
      AL808119
      Consensus CDS
      CCDS16822.1
      UniProtKB/Swiss-Prot
      A2ANA1, Q3U6B3, Q99K49, Q9D662, Q9QZ68
      UniProtKB/TrEMBL
      Q3TAW4, Q3TYS4, Q3UKB4
      Conserved Domains (1) summary
      PLN00162
      Location:12 → 765
      PLN00162; transport protein sec23; Provisional

    7. NM_001412492.1 → NP_001399421.1  protein transport protein Sec23B isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL808119

    8. NM_001412493.1 → NP_001399422.1  protein transport protein Sec23B isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL808119

    9. NM_001412494.1 → NP_001399423.1  protein transport protein Sec23B isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL808119

    10. NM_001412495.1 → NP_001399424.1  protein transport protein Sec23B isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL808119

    11. NM_001412496.1 → NP_001399425.1  protein transport protein Sec23B isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL808119

    12. NM_019787.5 → NP_062761.2  protein transport protein Sec23B isoform 1

      See identical proteins and their annotated locations for NP_062761.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 6. Variants 1, 2, 3, 4, 6, and 7 all encode the same isoform (1).
      Source sequence(s)
      AL808119
      Consensus CDS
      CCDS16822.1
      UniProtKB/Swiss-Prot
      A2ANA1, Q3U6B3, Q99K49, Q9D662, Q9QZ68
      UniProtKB/TrEMBL
      Q3TAW4, Q3TYS4, Q3UKB4
      Related
      ENSMUSP00000028916.9, ENSMUST00000028916.15
      Conserved Domains (1) summary
      PLN00162
      Location:12 → 765
      PLN00162; transport protein sec23; Provisional

    RNA

    1. NR_178207.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL808119

    2. NR_178208.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL808119

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      144398165..144432673
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036162251.1 → XP_036018144.1  protein transport protein Sec23B isoform X1

      UniProtKB/TrEMBL
      Q8CDS4
      Conserved Domains (1) summary
      PLN00162
      Location:2 → 655
      PLN00162; transport protein sec23; Provisional

    2. XM_036162249.1 → XP_036018142.1  protein transport protein Sec23B isoform X1

      UniProtKB/TrEMBL
      Q8CDS4
      Conserved Domains (1) summary
      PLN00162
      Location:2 → 655
      PLN00162; transport protein sec23; Provisional
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D662.1 GenPept UniProtKB/Swiss-Prot:Q9D662

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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