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

Gene ID: 25956, updated on 28-Oct-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
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Genomic context

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See SEC31B in Genome Data Viewer
Location:
10q24.31
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (100486647..100519861, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (101369754..101402965, complement)
RS_2024_09 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 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 (22) 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_2024_08

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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