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    SEC31B SEC31 homolog B, COPII coat complex component [ Homo sapiens (human) ]

    Gene ID: 25956, updated on 2-May-2024

    Summary

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    Official Symbol
    SEC31Bprovided by HGNC
    Official Full Name
    SEC31 homolog B, COPII coat complex componentprovided by HGNC
    Primary source
    HGNC:HGNC:23197
    See related
    Ensembl:ENSG00000075826 MIM:610258; AllianceGenome:HGNC:23197
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SEC31L2; SEC31B-1
    Summary
    This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 7.5), lymph node (RPKM 6.5) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    10q24.31
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (100486647..100519861, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (101369754..101402965, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (102246404..102279618, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:102132955-102133524 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:102133525-102134092 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:102134093-102134662 Neighboring gene oligodendrocyte maturation-associated long intergenic non-coding RNA Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:102214151-102214652 Neighboring gene Wnt family member 8B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:102242041-102242696 Neighboring gene VISTA enhancer hs1006 Neighboring gene MPRA-validated peak1070 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3893 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:102289335-102289917 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3894 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3896 Neighboring gene NADH:ubiquinone oxidoreductase subunit B8 Neighboring gene hypoxia inducible factor 1 subunit alpha inhibitor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Human Sec31B: a family of new mammalian orthologues of yeast Sec31p that associate with the COPII coat. Stankewich MC, et al. J Cell Sci, 2006 Mar 1. PMID 16495487
    2. Mammalian homologues of yeast sec31p. An ubiquitously expressed form is localized to endoplasmic reticulum (ER) exit sites and is essential for ER-Golgi transport. Tang BL, et al. J Biol Chem, 2000 May 5. PMID 10788476
    3. The E3-ubiquitin ligase TRIM50 interacts with HDAC6 and p62, and promotes the sequestration and clearance of ubiquitinated proteins into the aggresome. Fusco C, et al. PLoS One, 2012. PMID 22792322, Free PMC Article
    4. Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. Wu JH, et al. Circ Cardiovasc Genet, 2013 Apr. PMID 23362303, Free PMC Article
    5. Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. Del-Aguila JL, et al. Pharmacogenomics J, 2014 Feb. PMID 23400010, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    2. The SEC31B protein is an orthologue of Saccharomyces cerevisiae Sec31p, a component of the COPII vesicle coat that mediates vesicular traffic from the endoplasmic reticulum.
      Title: Human Sec31B: a family of new mammalian orthologues of yeast Sec31p that associate with the COPII coat.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    EBI GWAS Catalog
    Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: NDUFB8

    Homology

    Clone Names

    • DKFZp434M183

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables structural molecule activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in COPII-coated vesicle cargo loading IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endoplasmic reticulum organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in 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
    		  
    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
    		  
    part_of vesicle coat IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein transport protein Sec31B
    Names
    SEC31 homolog B, COPII coating complex component
    SEC31-like 2
    SEC31-like protein 2
    SEC31-related protein B
    secretory pathway component Sec31B-1

    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_015490.4 → NP_056305.1  protein transport protein Sec31B

      See identical proteins and their annotated locations for NP_056305.1

      Status: REVIEWED

      Source sequence(s)
      AF274863, AL133352, BC034946, BM719543
      Consensus CDS
      CCDS7495.1
      UniProtKB/Swiss-Prot
      B7ZM75, Q6MZS3, Q86UF0, Q9NQW1, Q9Y4Q8
      Related
      ENSP00000359370.3, ENST00000370345.8
      Conserved Domains (5) summary
      COG2319
      Location:36 → 356
      WD40; WD40 repeat [General function prediction only]
      pfam15822
      Location:837 → 1052
      MISS; MAPK-interacting and spindle-stabilizing protein-like
      sd00039
      Location:70 → 118
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:13 → 332
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      cl14807
      Location:561 → 691
      ACE1-Sec16-like; Ancestral coatomer element 1 (ACE1) of COPII coat complex assembly protein Sec16

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      100486647..100519861 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      101369754..101402965 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_198138.1: Suppressed sequence

      Description
      NM_198138.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate and lacks homolog support.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NQW1.1 GenPept UniProtKB/Swiss-Prot:Q9NQW1

    Gene LinkOut

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

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