SEC31A Gene (Protein Coding)

SEC31 Homolog A, COPII Coat Complex Component

GC04M082818
GIFtS:
43
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 ... See more...

Aliases for SEC31A Gene

Aliases for SEC31A Gene

  • SEC31 Homolog A, COPII Coat Complex Component 2 3 5
  • ABP125 2 3 4
  • ABP130 2 3 4
  • Protein Transport Protein Sec31A 3 4
  • SEC31-Related Protein A 3 4
  • SEC31-Like Protein 1 3 4
  • Web1-Like Protein 3 4
  • KIAA0905 2 4
  • SEC31L1 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
  • HSPC275 3
  • HSPC334 3
  • NEDSOSB 3
  • SEC31A 5

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 Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies and Pseudobulbar Palsy. Among its related pathways are Delta508-CFTR traffic / ER-to-Golgi in CF and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include calcium-dependent protein binding. An important paralog of this gene is SEC31B.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for SEC31A Gene

Genomics for SEC31A Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SEC31A Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEC31A

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

Latest Assembly
chr4:82,818,509-82,901,166
(GRCh38/hg38)
Size:
82,658 bases
Orientation:
Minus strand

Previous Assembly
chr4:83,739,662-83,821,722
(GRCh37/hg19 by Entrez Gene)
Size:
82,061 bases
Orientation:
Minus strand

chr4:83,739,814-83,822,319
(GRCh37/hg19 by Ensembl)
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; Evidence={ECO:0000305}; Sequence=AAF29012.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=CAI45995.1; Type=Erroneous termination; Note=Truncated C-terminus.; 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 Lys111, Lys488, Lys647, Lys729, and Lys1217
  • 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
  • Transporters

Protein Domains for SEC31A Gene

InterPro:

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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  6. Cell Lines for research

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

Human Phenotype Ontology for SEC31A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

Inhibitory RNAs for research

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No data available for Enzyme Numbers (IUBMB) , 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
nucleus 3
golgi apparatus 3
cytoskeleton 2
plasma membrane 1
extracellular 1
mitochondrion 1
endosome 1
lysosome 1

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 IEA,IDA 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

genes like me logo Genes that share pathways with SEC31A: view

Pathways by source for SEC31A Gene

1 KEGG pathway for SEC31A Gene
4 GeneGo (Thomson Reuters) pathways for SEC31A Gene
  • Delta508-CFTR traffic / ER-to-Golgi in CF
  • Normal wtCFTR traffic / ER-to-Golgi
  • Transport Clathrin-coated vesicle cycle
  • wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
1 Cell Signaling Technology pathway for SEC31A Gene

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
Guanosine triphosphate Experimental Pharma 0
Calcium Nutra 6959
genes like me logo Genes that share compounds with SEC31A: view

Transcripts for SEC31A Gene

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mRNA/cDNA for SEC31A Gene

10 REFSEQ mRNAs :
35 NCBI additional mRNA sequence :
41 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEC31A

Clone products for research

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: - - - - - - - - - - - - - - - - - -
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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: - - -
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SP25: -
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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: - - - - -
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SP6: - - - - -
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SP8: -
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SP10: - - - - - -
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SP16: - - - - -
SP17: - -
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SP33:
SP34: - -

Relevant External Links for SEC31A Gene

GeneLoc Exon Structure for
SEC31A

Expression for SEC31A Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

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

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.5)
  • Blood(4.4)
  • Pancreas(4.4)
  • Spleen(4.4)
  • Skin(3.3)
  • Kidney(3)
  • Eye(2.8)
  • Lung(2.7)
  • Intestine(2.3)
  • Muscle(2.2)
  • Stomach(2.2)
  • Thyroid gland(2.2)
  • Heart(2.2)
  • Bone marrow(2.1)
  • Lymph node(2.1)
genes like me logo Genes that share expression patterns with SEC31A: view

Primer products for research

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 29 30
  • 99.83 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SEC31A 29 30
  • 93.17 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SEC31A 29 30
  • 91.01 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Sec31a 29 16 30
  • 87.16 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Sec31a 29
  • 85.72 (n)
Oppossum
(Monodelphis domestica)
 Mammalia SEC31A 30
  • 84 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia SEC31A 30
  • 71 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves SEC31A 29 30
  • 73.99 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SEC31A 30
  • 78 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia sec31a 29
  • 70.38 (n)
Str.16319 29
African clawed frog
(Xenopus laevis)
 Amphibia Xl.34077 29
Zebrafish
(Danio rerio)
 Actinopterygii sec31a 29 30
  • 63.99 (n)
 OneToOne
sec31p 29
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.2762 29
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP011551 29
  • 48.39 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta sec31 29 30
  • 47.98 (n)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea sec-31 30
  • 23 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SEC31 30 32
  • 22 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.8708 30
  • 42 (a)
 OneToMany
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.5079 29
Species where no ortholog for SEC31A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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
Alliance of Genome Resources:
Additional Orthologs for SEC31A

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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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEC31A Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
1028501 Uncertain Significance: Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 82,864,422(-) G/C
NM_001077207.4(SEC31A):c.1374C>G (p.Cys458Trp) 		MISSENSE
rs111755175 Benign: not provided 82,854,934(-) A/G
NM_001077207.4(SEC31A):c.1977T>C (p.Tyr659=) 		SYNONYMOUS
rs1578188501 Pathogenic: Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 82,842,330(-) G/GTA
NM_001077207.4(SEC31A):c.2776_2777dup (p.Ala927fs) 		FRAMESHIFT_VARIANT,INTRON
rs34554214 Benign: not provided 82,870,420(-) T/Cp.Ile263Val
NM_001077207.4(SEC31A):c.787A>G (p.Ile263Val) 		MISSENSE
rs34982573 Benign: not provided 82,827,568(-) G/A
NM_001077207.4(SEC31A):c.3092C>T (p.Pro1031Leu) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SEC31A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for SEC31A Gene

MalaCards: The human disease database

(10) MalaCards diseases for SEC31A Gene - From: OMI, CVR, COP, and GCD

Disorder Aliases PubMed IDs
neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
  • nedsosb
pseudobulbar palsy
  • pseudobulbar paralysis
spastic quadriplegia
  • quadriplegic infantile cerebral palsy
quadriplegia
  • tetraplegia
inflammatory myofibroblastic tumor
  • inflammatory fibrosarcoma
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SC31A_HUMAN
  • Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies (NEDSOSB) [MIM:618651]: An autosomal recessive, congenital neurodevelopmental disorder characterized by intrauterine growth retardation, microcephaly, marked developmental delay, spastic quadriplegia with profound contractures, pseudobulbar palsy with recurrent aspirations, epilepsy, dysmorphism, neurosensory deafness, optic nerve atrophy with no eye fixation, and death in early childhood. Brain imaging shows semilobar holoprosencephaly and agenesis of corpus callosum. {ECO:0000269 PubMed:30464055}. Note=The disease may be caused by variants affecting the gene represented in this entry.
  • 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

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Publications for SEC31A Gene

  1. SEC31A mutation affects ER homeostasis, causing a neurological syndrome. (PMID: 30464055) Halperin D … Birk OS (Journal of medical genetics 2019) 3 4 72
  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. (PMID: 10788476) Tang BL … Hong W (The Journal of biological chemistry 2000) 2 3 4
  3. 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
  4. Two Distinct Types of E3 Ligases Work in Unison to Regulate Substrate Ubiquitylation. (PMID: 27565346) Scott DC … Schulman BA (Cell 2016) 3 4
  5. Regulation of the CUL3 Ubiquitin Ligase by a Calcium-Dependent Co-adaptor. (PMID: 27716508) McGourty CA … Rape M (Cell 2016) 3 4

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