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

Gene ID: 27054, updated on 2-Nov-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, Nov 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.

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