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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
External Ids for SEC31A Gene
- HGNC: 17052
- Entrez Gene: 22872
- Ensembl: ENSG00000138674
- OMIM: 610257
- UniProtKB: O94979
Previous HGNC Symbols for SEC31A Gene
- SEC31L1
Previous GeneCards Identifiers for SEC31A Gene
- GC04M083958
- GC04M083739
- GC04M079479
Summaries 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 Spastic Quadriplegia. Among its related pathways are Transport to the Golgi and subsequent modification and Sterol Regulatory Element-Binding Proteins (SREBP) signalling. 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).
Additional gene information for SEC31A Gene
- HGNC(17052)
- Entrez Gene(22872)
- Ensembl(ENSG00000138674)
- OMIM(610257)
- UniProtKB(O94979)
- Open Targets Platform(ENSG00000138674)
- Monarch Initiative
- Search for SEC31A at DataMed
- Search for SEC31A at HumanCyc
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
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
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:
-
- 4q21.22 by HGNC
- 4q21.22 by Entrez Gene
- 4q21.22 by Ensembl
SEC31A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SEC31A Gene
Proteins for SEC31A Gene
-
Protein details for SEC31A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O94979-SC31A_HUMAN
- Recommended name:
- Protein transport protein Sec31A
- Protein Accession:
- O94979
- 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};
Protein Expression for SEC31A Gene
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
- NX_O94979 (NX_O94979-1)
- Modification sites at PhosphoSitePlus
Other Protein References for SEC31A Gene
- ENSEMBL proteins:
-
- ENSP00000378721
- ENSP00000422371
- ENSP00000337602
- ENSP00000426886
- ENSP00000408027
- ENSP00000426569
- ENSP00000421633
- ENSP00000421464
- ENSP00000424635
- ENSP00000347329
- ENSP00000426943
- ENSP00000264405
- ENSP00000424451
- ENSP00000425140
- ENSP00000425999
- ENSP00000426562
- ENSP00000424336
- ENSP00000422267
- ENSP00000425056
- ENSP00000421001
- ENSP00000425555
- ENSP00000426950
- ENSP00000422797
- ENSP00000422563
- ENSP00000425095
- ENSP00000475765
- ENSP00000425064
- ENSP00000476156
- ENSP00000309070
- ENSP00000400926
- REFSEQ proteins:
Antibody Products
- HUABIO Anti-SEC31A Antibody
- Novus Biologicals Antibodies for SEC31A
-
Abcam antibodies for SEC31A
- Invitrogen Antibodies for SEC31A (AFLGC-SEC31A)
-
Biorbyt antibodies for SEC31A
-
Santa Cruz Biotechnology (SCBT) Antibodies for SEC31A
Protein Products
-
OriGene Purified Proteins for SEC31A
- Search Origene for MassSpec and Protein Over-expression Lysates for SEC31A
- Origene Custom Protein Services for SEC31A
-
Abcam proteins for SEC31A
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:
- 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
O94979UniProtKB/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.
Function for SEC31A Gene
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
| 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 |
Phenotypes for SEC31A Gene
- GenomeRNAi human phenotypes for SEC31A:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SEC31A - Select products 50% OFF >
- * SEC31A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SEC31A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SEC31A
-
Santa Cruz Biotechnology (SCBT) CRISPR for SEC31A
miRNA for SEC31A Gene
- miRTarBase miRNAs that target SEC31A
-
- mmu-miR-181a-5p (MIRT014257)
- mmu-miR-9-5p (MIRT015503)
- hsa-miR-193b-3p (MIRT016376)
- hsa-miR-98-5p (MIRT027533)
- hsa-miR-1909-5p (MIRT035806)
- hsa-miR-331-3p (MIRT043280)
- hsa-miR-378a-3p (MIRT043917)
- hsa-miR-26a-5p (MIRT050159)
- hsa-miR-378c (MIRT052831)
- hsa-miR-218-5p (MIRT439685)
- hsa-miR-127-3p (MIRT439686)
- hsa-miR-653-3p (MIRT693809)
- hsa-miR-196a-3p (MIRT693810)
- hsa-miR-3128 (MIRT693811)
- hsa-miR-4733-3p (MIRT693812)
- hsa-miR-3065-5p (MIRT693813)
- hsa-miR-29c-3p (MIRT693814)
- hsa-miR-29b-3p (MIRT693815)
- hsa-miR-29a-3p (MIRT693816)
- hsa-miR-4422 (MIRT693817)
- hsa-miR-6835-3p (MIRT693818)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SEC31A
- Browse OriGene Inhibitory RNA Products For SEC31A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEC31A
Clone Products
- Applied Biological Materials (abm): Clones for SEC31A - Select products 50% OFF >
- * SEC31A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG220233
- MR220233
- MR220233L3
- MR220233L4
- RC210083
- RC210083L3
- RC210083L4
- RC212210
- RC212210L3
- RC212210L4
- RC214010
- RC214010L3
- RC214010L4
- RC216802
- RC216802L3
- RC216802L4
- RC223429
- RC223429L3
- RC223429L4
- RC231472
- RC231472L3
- RC231472L4
- RC239931
- RC240014
- RG210083
- RG212210
- RG214010
- RG216802
- RG223429
- RG231472
- RR212741
- MR220233L3V
- MR220233L4V
- RC210083L3V
- RC210083L4V
- RC212210L3V
- RC212210L4V
- RC214010L3V
- RC214010L4V
- RC216802L3V
- RC216802L4V
- RC223429L3V
- RC223429L4V
- RC231472L3V
- RC231472L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SEC31A
- Addgene plasmids for SEC31A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SEC31A
Cell Line Products
-
Horizon Cell Lines for SEC31A
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}.
| 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 |
- Vesicles (3)
- Cytosol (2)
| 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 | -- |
Pathways & Interactions for SEC31A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Transport to the Golgi and subsequent modification | ||
| 2 | Delta508-CFTR traffic / ER-to-Golgi in CF |
Delta508-CFTR traffic / ER-to-Golgi in CF
.33
Normal wtCFTR traffic / ER-to-Golgi
.33
|
wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
.33
Transport Clathrin-coated vesicle cycle
.32
|
| 3 | Unfolded Protein Response (UPR) | ||
| 4 | Class I MHC mediated antigen processing and presentation | ||
| 5 | Vesicle-mediated transport | ||
Pathways by source for SEC31A Gene
1 BioSystems pathway for SEC31A Gene
16 Reactome pathways 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
Interacting Proteins for SEC31A Gene
Selected Interacting proteins:
O94979-SC31A_HUMAN
ENSP00000378721
for SEC31A Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for SEC31A
| 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 | -- |
No data available for SIGNOR curated interactions for SEC31A Gene
Transcripts for SEC31A Gene
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 :
-
- ENST00000264405 3447 nts (view in UCSC)
- ENST00000311785 3909 nts (view in UCSC)
- ENST00000348405 4012 nts (view in UCSC)
- ENST00000355196 4104 nts (view in UCSC)
- ENST00000395310 4298 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SEC31A - Select products 50% OFF >
- * SEC31A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SEC31A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SEC31A
-
Santa Cruz Biotechnology (SCBT) CRISPR for SEC31A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SEC31A
- Browse OriGene Inhibitory RNA Products For SEC31A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEC31A
Clone Products
- Applied Biological Materials (abm): Clones for SEC31A - Select products 50% OFF >
- * SEC31A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG220233
- MR220233
- MR220233L3
- MR220233L4
- RC210083
- RC210083L3
- RC210083L4
- RC212210
- RC212210L3
- RC212210L4
- RC214010
- RC214010L3
- RC214010L4
- RC216802
- RC216802L3
- RC216802L4
- RC223429
- RC223429L3
- RC223429L4
- RC231472
- RC231472L3
- RC231472L4
- RC239931
- RC240014
- RG210083
- RG212210
- RG214010
- RG216802
- RG223429
- RG231472
- RR212741
- MR220233L3V
- MR220233L4V
- RC210083L3V
- RC210083L4V
- RC212210L3V
- RC212210L4V
- RC214010L3V
- RC214010L4V
- RC216802L3V
- RC216802L4V
- RC223429L3V
- RC223429L4V
- RC231472L3V
- RC231472L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SEC31A
- Addgene plasmids for SEC31A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SEC31A
| 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: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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: | 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: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
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| SP23: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
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| SP25: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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: | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP23: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP24: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP25: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP26: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP27: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP28: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP29: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP30: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP31: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP32: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP33: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP34: | - | - |
Relevant External Links for SEC31A Gene
- GeneLoc Exon Structure for
- SEC31A
Expression for SEC31A Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Intestine (Gastrointestinal Tract)
-
Uterus (Reproductive System)
-
Colon (Gastrointestinal Tract)
-
Prostate (Endocrine System)
-
Placenta (Extraembryonic Tissues)
-
Spleen (Hematopoietic System)
-
Thyroid (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Lung (Respiratory System)
-
Kidney (Urinary System)
-
Adrenal Gland (Endocrine System)
-
Esophagus (Gastrointestinal Tract)
-
Stomach (Gastrointestinal Tract)
-
Liver (Hepatobiliary System)
-
Pancreas (Endocrine System)
-
Ovary (Reproductive System)
-
Adipose (Muscoskeletal System)
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEC31A
SOURCE GeneReport for Unigene cluster for SEC31A Gene:
Hs.370024mRNA 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(4.5)
- Pancreas(4.4)
- Spleen(4.4)
- Skin(3.4)
- Kidney(3)
- Eye(2.8)
- Lung(2.8)
- Intestine(2.4)
- Muscle(2.3)
- Stomach(2.3)
- Thyroid gland(2.2)
- Heart(2.2)
- Bone marrow(2.2)
- Lymph node(2.2)
- Adrenal gland(2.1)
Primer Products
-
OriGene qPCR primer pairs for SEC31A
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SEC31A 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SEC31A 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SEC31A 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Sec31a 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Sec31a 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | SEC31A 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SEC31A 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SEC31A 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SEC31A 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sec31a 30 |
|
||
| Str.16319 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.34077 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | sec31a 30 31 |
|
OneToOne | |
| sec31p 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.2762 30 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011551 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | sec31 30 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | sec-31 31 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SEC31 31 33 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8708 31 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.5079 30 |
|
- 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
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
Variants for SEC31A Gene
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 |
|---|---|---|---|---|---|
| 694295 | Pathogenic: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES | 82,842,330(-) | G/GTA | FRAMESHIFT_VARIANT,INTRON_VARIANT | |
| 722936 | Benign: not provided | 82,870,420(-) | T/C | MISSENSE_VARIANT | |
| 758156 | Likely Benign: not provided | 82,827,414(-) | G/A | SYNONYMOUS_VARIANT | |
| 775992 | Benign: not provided | 82,827,568(-) | G/A | MISSENSE_VARIANT | |
| 775993 | Benign: not provided | 82,854,934(-) | A/G | SYNONYMOUS_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3367956 | CNV | insertion | 20981092 |
| nsv1117106 | CNV | deletion | 24896259 |
| nsv1123812 | CNV | deletion | 24896259 |
| nsv594744 | CNV | gain | 21841781 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEC31A Gene
Disorders for SEC31A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies |
|
|
| spastic quadriplegia |
|
|
| pseudobulbar palsy |
|
|
| quadriplegia |
|
|
| inflammatory myofibroblastic tumor |
|
|
Search SEC31A in MalaCards
View complete list of genes associated with diseases
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 mutations 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
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for SEC31A Gene
Publications for SEC31A Gene
- 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
- SEC31A mutation affects ER homeostasis, causing a neurological syndrome. (PMID: 30464055) Halperin D … Birk OS (Journal of medical genetics 2019) 3 4
- 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
- Two Distinct Types of E3 Ligases Work in Unison to Regulate Substrate Ubiquitylation. (PMID: 27565346) Scott DC … Schulman BA (Cell 2016) 3 4
- Regulation of the CUL3 Ubiquitin Ligase by a Calcium-Dependent Co-adaptor. (PMID: 27716508) McGourty CA … Rape M (Cell 2016) 3 4
ExternalLinks
Products for SEC31A Gene
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for SEC31A
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- Origene Custom Protein Services for SEC31A
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SEC31A
- Browse OriGene Inhibitory RNA Products For SEC31A
- OriGene qPCR primer pairs for SEC31A
- OriGene CRISPR knockouts for SEC31A
- MG220233
- MR220233
- MR220233L3
- MR220233L4
- RC210083
- RC210083L3
- RC210083L4
- RC212210
- RC212210L3
- RC212210L4
- RC214010
- RC214010L3
- RC214010L4
- RC216802
- RC216802L3
- RC216802L4
- RC223429
- RC223429L3
- RC223429L4
- RC231472
- RC231472L3
- RC231472L4
- RC239931
- RC240014
- RG210083
- RG212210
- RG214010
- RG216802
- RG223429
- RG231472
- RR212741
- MR220233L3V
- MR220233L4V
- RC210083L3V
- RC210083L4V
- RC212210L3V
- RC212210L4V
- RC214010L3V
- RC214010L4V
- RC216802L3V
- RC216802L4V
- RC223429L3V
- RC223429L4V
- RC231472L3V
- RC231472L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SEC31A
- Sino Biological Human cDNA Clone for SEC31A
- Browse Sino Biological Recombinant Proteins
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- Browse Sino Biological Antibodies
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for SEC31A
- Novus Biologicals proteins and lysates for SEC31A
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for SEC31A
- Abcam proteins for SEC31A
- Find your target
- Browse Primary Antibodies
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- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for SEC31A (AFLGC-SEC31A)
- VectorBuilder Custom and pre-made DNA vectors for SEC31A (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SEC31A (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for SEC31A (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for SEC31A CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for SEC31A
- Addgene plasmids for SEC31A
- antibodies-online: