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SEC31A Gene(Protein Coding)

SEC31 Homolog A, COPII Coat Complex Component

GCID:
GC04M082818
GIFtS:
48
Genes Participants
UDN Logo

Aliases for SEC31A Gene

Aliases for SEC31A Gene

  • SEC31 Homolog A, COPII Coat Complex Component 2 3 5
  • Protein Transport Protein Sec31A 3 4
  • SEC31-Related Protein A 3 4
  • SEC31-Like Protein 1 3 4
  • Web1-Like Protein 3 4
  • SEC31L1 3 4
  • ABP125 3 4
  • ABP130 3 4
  • SEC31 Homolog A, COPII Coating Complex Component 3
  • Sec31 Homolog A (S. Cerevisiae) 2
  • SEC31 Homolog A (S. Cerevisiae) 2
  • SEC31-Like 1 (S. Cerevisiae) 2
  • Yeast Sec31p Homolog 3
  • KIAA0905 4
  • HSPC275 3
  • HSPC334 3

External Ids for SEC31A Gene

Previous HGNC Symbols for SEC31A Gene

  • SEC31L1

Previous GeneCards Identifiers for SEC31A Gene

  • GC04M083958
  • GC04M083739
  • GC04M079479

Summaries for SEC31A Gene

Entrez Gene Summary for SEC31A Gene

  • The protein encoded by this gene shares similarity with the yeast Sec31 protein, and is a component of the outer layer of the coat protein complex II (COPII). The encoded protein is involved in vesicle budding from the endoplasmic reticulum (ER) and contains multiple WD repeats near the N-terminus and a proline-rich region in the C-terminal half. It associates with the protein encoded by the SEC13 homolog, nuclear pore and COPII coat complex component (SEC13), and is required for ER-Golgi transport. Monoubiquitylation of this protein by CUL3-KLHL12 was found to regulate the size of COPII coats to accommodate unusually shaped cargo. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

GeneCards Summary for SEC31A Gene

SEC31A (SEC31 Homolog A, COPII Coat Complex Component) is a Protein Coding gene. Diseases associated with SEC31A include Inflammatory Myofibroblastic Tumor and Pseudosarcomatous Fibromatosis. Among its related pathways are Vesicle-mediated transport and Delta508-CFTR traffic / ER-to-Golgi in CF. Gene Ontology (GO) annotations related to this gene include calcium-dependent protein binding. An important paralog of this gene is SEC31B.

UniProtKB/Swiss-Prot for SEC31A Gene

  • Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER) (PubMed:10788476). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules (By similarity).

Gene Wiki entry for SEC31A Gene

Additional gene information for SEC31A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEC31A Gene

Genomics for SEC31A Gene

GeneHancer (GH) Regulatory Elements for SEC31A Gene

Promoters and enhancers for SEC31A Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH04J082884 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 600.4 +12.3 12289 9.3 ZNF652 SP1 ZFX ELF3 MNT ZNF148 NKRF POLR2A MLLT1 ZNF121 SEC31A THAP9-AS1 HNRNPD HNRNPDL ENSG00000272677 THAP9 MRPS18C GC04P082899 GC04M082849
GH04J082898 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 600.7 +1.1 1105 5.3 SP1 CC2D1A ZFX MNT NKRF POLR2A MLLT1 GTF2F1 CSDE1 ZNF687 THAP9-AS1 GC04P082899 THAP9 SEC31A HELQ HNRNPD ABRAXAS1
GH04J082844 Promoter 0.5 EPDnew 600.2 +56.6 56640 0.1 SEC31A THAP9-AS1 GC04M082828 GC04M082849
GH04J083484 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 21 -583.8 -583772 2.7 HDGF SP1 ZFX ELF3 MNT NKRF POLR2A MLLT1 GTF2F1 ZNF687 HELQ ABRAXAS1 SEC31A THAP9-AS1 MRPS18C GPAT3 SLC25A14P1 RPL30P5
GH04J083454 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 18.7 -554.9 -554852 4 ZNF652 SP1 CC2D1A ZFX ELF3 MNT SIX5 CBFA2T2 NKRF POLR2A HELQ MRPS18C ABRAXAS1 SEC31A HPSE GPAT3 SLC25A14P1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEC31A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SEC31A gene promoter:
  • AREB6
  • c-Myc
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • Max
  • MZF-1
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for SEC31A Gene

Genomic Locations for SEC31A Gene
chr4:82,818,509-82,901,166
(GRCh38/hg38)
Size:
82,658 bases
Orientation:
Minus strand
chr4:83,739,814-83,822,319
(GRCh37/hg19)
Size:
82,506 bases
Orientation:
Minus strand

Genomic View for SEC31A Gene

Genes around SEC31A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEC31A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEC31A Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SEC31A Gene

Proteins for SEC31A Gene

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  • Protein details for SEC31A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94979-SC31A_HUMAN
    Recommended name:
    Protein transport protein Sec31A
    Protein Accession:
    O94979
    Secondary Accessions:
    • B4DIW6
    • B7ZKZ7
    • B7ZL00
    • H7C2W3
    • Q17RR5
    • Q5H9P6
    • Q5XG74
    • Q659G7
    • Q6ZU90
    • Q7LCX9
    • Q86TJ0
    • Q8IZH4
    • Q9P048
    • Q9P0A6
    • Q9UM05
    • Q9UM06

    Protein attributes for SEC31A Gene

    Size:
    1220 amino acids
    Molecular mass:
    133015 Da
    Quaternary structure:
    • COPII is composed of at least 5 proteins: the SEC23/24 complex, the SEC13/31 complex and SAR1. SEC13 and SEC31 make a 2:2 tetramer that forms the edge element of the COPII outer coat. The tetramer self-assembles in multiple copies to form the complete polyhedral cage. Interacts (via WD 8) with SEC13 (By similarity). Interacts with PDCD6; interaction takes place in response to cytosolic calcium increase and leads to bridge together the BCR(KLHL12) complex and SEC31A, leading to monoubiquitination (PubMed:27716508) (PubMed:16957052, PubMed:17196169, PubMed:27716508, PubMed:25667979). Interacts with KLHL12.
    SequenceCaution:
    • Sequence=AAF28953.1; Type=Frameshift; Positions=857, 1079; Evidence={ECO:0000305}; Sequence=AAF29012.1; Type=Frameshift; Positions=922, 946, 1029, 1080; Evidence={ECO:0000305}; Sequence=CAI45995.1; Type=Erroneous termination; Positions=221; Note=Translated as Trp.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SEC31A Gene

    Alternative splice isoforms for SEC31A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEC31A Gene

Protein Expression for SEC31A Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SEC31A Gene

  • Monoubiquitinated by the BCR(KLHL12) E3 ubiquitin ligase complex, leading to regulate the size of COPII coats.
  • Ubiquitination at isoforms=10, 2, 3, 4, 6, 7, 8, 9647, isoforms=10, 2, 3, 4, 5, 6, 8, 9111, posLast=488488, posLast=12171217, and isoforms=10, 2, 3, 4, 6, 7, 8, 9729
  • Modification sites at PhosphoSitePlus

Other Protein References for SEC31A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SEC31A Gene

Domains & Families for SEC31A Gene

Gene Families for SEC31A Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins
  • Transporters

Protein Domains for SEC31A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SEC31A Gene

GenScript: Design optimal peptide antigens:
  • Web1-like protein (SC31A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O94979

UniProtKB/Swiss-Prot:

SC31A_HUMAN :
  • The ALG-2-binding site motif-2 (ABS-2) contains a PXPGF sequence that binds hydrophobic pocket 3 of PDCD6.
  • Belongs to the WD repeat SEC31 family.
Domain:
  • The ALG-2-binding site motif-2 (ABS-2) contains a PXPGF sequence that binds hydrophobic pocket 3 of PDCD6.
Family:
  • Belongs to the WD repeat SEC31 family.
genes like me logo Genes that share domains with SEC31A: view

Function for SEC31A Gene

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Molecular function for SEC31A Gene

UniProtKB/Swiss-Prot Function:
Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER) (PubMed:10788476). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules (By similarity).

Phenotypes From GWAS Catalog for SEC31A Gene

Gene Ontology (GO) - Molecular Function for SEC31A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IBA 21873635
GO:0005515 protein binding IPI 16957052
GO:0048306 calcium-dependent protein binding IPI 16957052
genes like me logo Genes that share ontologies with SEC31A: view
genes like me logo Genes that share phenotypes with SEC31A: view

Animal Model Products

CRISPR Products

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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SEC31A Gene

Localization for SEC31A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEC31A Gene

Cytoplasm. Cytoplasmic vesicle, COPII-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Endoplasmic reticulum membrane; Peripheral membrane protein. Cytoplasm, cytosol. Note=Associates with membranes in a GTP-dependent manner (By similarity). Localizes to endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER) (PubMed:25201882, PubMed:28442536, PubMed:17428803). {ECO:0000250 UniProtKB:Q9Z2Q1, ECO:0000269 PubMed:17428803, ECO:0000269 PubMed:25201882, ECO:0000269 PubMed:28442536}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SEC31A gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 5
golgi apparatus 3
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SEC31A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm IDA,IEA 17196169
GO:0005783 endoplasmic reticulum IEA,IDA 17196169
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SEC31A: view

Pathways & Interactions for SEC31A Gene

GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards
genes like me logo Genes that share pathways with SEC31A: view

Gene Ontology (GO) - Biological Process for SEC31A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS --
GO:0006886 intracellular protein transport IBA 21873635
GO:0006888 ER to Golgi vesicle-mediated transport NAS 10788476
GO:0007029 endoplasmic reticulum organization IBA 21873635
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with SEC31A: view

No data available for SIGNOR curated interactions for SEC31A Gene

Drugs & Compounds for SEC31A Gene

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(2) Drugs for SEC31A Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7611
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with SEC31A: view

Transcripts for SEC31A Gene

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  2. miRNA
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mRNA/cDNA for SEC31A Gene

(10) REFSEQ mRNAs :
(35) Additional mRNA sequences :
(79) Selected AceView cDNA sequences:
(41) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for SEC31A Gene

SEC31 homolog A (S. cerevisiae):
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for SEC31A - Now 50% OFF >
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  • * SEC31A tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for SEC31A Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c · 6d · 6e · 6f ^ 7a · 7b · 7c · 7d · 7e ^
SP1: - - - - - - - - - - - - - - - - - -
SP2:
SP3:
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SP5:
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SP8:
SP9:
SP10:
SP11:
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SP13:
SP14: - - - - -
SP15: - - - - - -
SP16:
SP17:
SP18:
SP19:
SP20: - - - - - - -
SP21: - - - - - - - - - - - - - - - - - -
SP22: - - - - - - -
SP23: - - - - - - - - - - - - - - - - - - -
SP24:
SP25:
SP26: - - - - -
SP27: - - - -
SP28: - - - - - - - -
SP29: - -
SP30: - - - - - - - - -
SP31:
SP32: -
SP33: - - - - - - - -
SP34:

ExUns: 8a · 8b · 8c · 8d ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^
SP1: - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - -
SP4: - - - - - - - - - -
SP5: - - - - - - - -
SP6: - - -
SP7: - - - - - - - - - - - - - - - -
SP8:
SP9: - - - - - -
SP10:
SP11: - - - - -
SP12: - - - - -
SP13: - - - -
SP14:
SP15:
SP16:
SP17:
SP18: - -
SP19:
SP20:
SP21: - - - -
SP22:
SP23: - - - -
SP24:
SP25: -
SP26:
SP27:
SP28:
SP29:
SP30:
SP31:
SP32:
SP33:
SP34:

ExUns: 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b ^ 28 ^ 29a · 29b ^ 30 ^ 31a · 31b ^ 32a · 32b ^ 33 ^ 34a · 34b ^ 35 ^ 36a · 36b ^ 37a · 37b ^ 38 ^ 39a · 39b
SP1: - - - - -
SP2: - - - - - - -
SP3: - - - - -
SP4: - - - - -
SP5: -
SP6: - - - - -
SP7:
SP8: -
SP9:
SP10: - - - - - -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16: - - - - -
SP17: - -
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:
SP28:
SP29:
SP30:
SP31:
SP32:
SP33:
SP34: - -

Relevant External Links for SEC31A Gene

GeneLoc Exon Structure for
SEC31A
ECgene alternative splicing isoforms for
SEC31A

Expression for SEC31A Gene

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  1. Primer
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SEC31A Gene

mRNA expression in normal human tissues for SEC31A Gene
mRNA expression by BioGPS for SEC31A GenemRNA expression by GTEx for SEC31A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SEC31A Gene

This gene is overexpressed in Bone marrow stromal cell (13.8) and Salivary gland (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SEC31A Gene



Protein tissue co-expression partners for SEC31A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SEC31A Gene:

SEC31A

SOURCE GeneReport for Unigene cluster for SEC31A Gene:

Hs.370024

mRNA Expression by UniProt/SwissProt for SEC31A Gene:

O94979-SC31A_HUMAN
Tissue specificity: Abundantly and ubiquitously expressed.

Evidence on tissue expression from TISSUES for SEC31A Gene

  • Nervous system(4.9)
  • Liver(4.4)
  • Pancreas(4.3)
  • Spleen(4.3)
  • Blood(4.2)
  • Skin(2.7)
  • Eye(2.4)
  • Kidney(2.2)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with SEC31A: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SEC31A Gene

Orthologs for SEC31A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SEC31A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia SEC31A 35 34
  • 99.83 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia SEC31A 35 34
  • 93.17 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia SEC31A 35 34
  • 91.01 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Sec31a 17 35 34
  • 87.16 (n)
rat
(Rattus norvegicus)
 Mammalia Sec31a 34
  • 85.72 (n)
oppossum
(Monodelphis domestica)
 Mammalia SEC31A 35
  • 84 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia SEC31A 35
  • 71 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves SEC31A 35 34
  • 73.99 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia SEC31A 35
  • 78 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia sec31a 34
  • 70.38 (n)
Str.16319 34
African clawed frog
(Xenopus laevis)
 Amphibia Xl.34077 34
zebrafish
(Danio rerio)
 Actinopterygii sec31a 35 34
  • 63.99 (n)
 OneToOne
sec31p 34
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.2762 34
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP011551 34
  • 48.39 (n)
fruit fly
(Drosophila melanogaster)
 Insecta sec31 35 34
  • 47.98 (n)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea sec-31 35
  • 23 (a)
 OneToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SEC31 37 35
  • 22 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.8708 35
  • 42 (a)
 OneToMany
Cin.5079 34
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.5079 34
Species where no ortholog for SEC31A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SEC31A Gene

ENSEMBL:
Gene Tree for SEC31A (if available)
TreeFam:
Gene Tree for SEC31A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEC31A: view image

Paralogs for SEC31A Gene

Paralogs for SEC31A Gene

(1) SIMAP similar genes for SEC31A Gene using alignment to 21 proteins:

  • SC31A_HUMAN
  • B7ZL00_HUMAN
  • D6RAB3_HUMAN
  • D6RBT0_HUMAN
  • D6RCQ9_HUMAN
  • D6RE64_HUMAN
  • D6REA9_HUMAN
  • D6REC0_HUMAN
  • D6REX3_HUMAN
  • D6RHE8_HUMAN
  • D6RHZ5_HUMAN
  • H0Y8V7_HUMAN
  • H0Y8W8_HUMAN
  • H0Y9K1_HUMAN
  • H0Y9T9_HUMAN
  • H0Y9V3_HUMAN
  • H0YAB3_HUMAN
  • H0YAF5_HUMAN
  • H7BXG7_HUMAN
  • U3KQC9_HUMAN
  • U3KQR3_HUMAN
genes like me logo Genes that share paralogs with SEC31A: view

Variants for SEC31A Gene

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Sequence variations from dbSNP and Humsavar for SEC31A Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000000600 -- 82,883,839(-) A/G intron_variant
rs1000019032 -- 82,900,290(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000151280 -- 82,841,347(-) C/T intron_variant
rs1000154176 -- 82,899,867(-) A/C genic_upstream_transcript_variant, intron_variant
rs1000156313 -- 82,855,568(-) A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SEC31A Gene

Variant ID Type Subtype PubMed ID
esv3367956 CNV insertion 20981092
nsv1117106 CNV deletion 24896259
nsv1123812 CNV deletion 24896259
nsv594744 CNV gain 21841781

Variation tolerance for SEC31A Gene

Residual Variation Intolerance Score: 9.16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.14; 61.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEC31A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEC31A
Human Gene Mutation Database (HGMD)
SEC31A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEC31A Gene

Disorders for SEC31A Gene

MalaCards: The human disease database

(2) MalaCards diseases for SEC31A Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
inflammatory myofibroblastic tumor
  • inflammatory fibrosarcoma
pseudosarcomatous fibromatosis
  • fasciitis - nodular
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SC31A_HUMAN
  • Note=A chromosomal aberration involving SEC31A is associated with inflammatory myofibroblastic tumors (IMTs). Translocation t(2;4)(p23;q21) with ALK.

Additional Disease Information for SEC31A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for Genatlas for SEC31A Gene

Publications for SEC31A Gene

  1. Mammalian homologues of yeast sec31p. An ubiquitously expressed form is localized to endoplasmic reticulum (ER) exit sites and is essential for ER-Golgi transport. (PMID: 10788476) Tang BL … Hong W (The Journal of biological chemistry 2000) 2 3 4 58
  2. TANGO1 recruits Sec16 to coordinately organize ER exit sites for efficient secretion. (PMID: 28442536) Maeda M … Saito K (The Journal of cell biology 2017) 3 4 58
  3. Two Distinct Types of E3 Ligases Work in Unison to Regulate Substrate Ubiquitylation. (PMID: 27565346) Scott DC … Schulman BA (Cell 2016) 3 4 58
  4. Regulation of the CUL3 Ubiquitin Ligase by a Calcium-Dependent Co-adaptor. (PMID: 27716508) McGourty CA … Rape M (Cell 2016) 3 4 58
  5. Structural analysis of the complex between penta-EF-hand ALG-2 protein and Sec31A peptide reveals a novel target recognition mechanism of ALG-2. (PMID: 25667979) Takahashi T … Maki M (International journal of molecular sciences 2015) 3 4 58

ExternalLinks

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