Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	22872
Gene name	SEC31 homolog A, COPII component
Gene symbol	SEC31A
Synonyms (NCBI Gene)	ABP125ABP130HPBKSHSPC275HSPC334NEDSOSBSEC31L1
Chromosome	4
Chromosome location	4q21.22
Summary	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 conta

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1578188501	->TA	Pathogenic	Coding sequence variant, intron variant, frameshift variant

172

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miRTarBase ID	miRNA	Experiments	Reference
MIRT016376	hsa-miR-193b-3p	Microarray	20304954
MIRT027533	hsa-miR-98-5p	Microarray	19088304
MIRT050159	hsa-miR-26a-5p	CLASH	23622248
MIRT043917	hsa-miR-378a-3p	CLASH	23622248
MIRT043280	hsa-miR-331-3p	CLASH	23622248
MIRT035806	hsa-miR-1909-5p	CLASH	23622248
MIRT052831	hsa-miR-378c	CLASH	23622248
MIRT693818	hsa-miR-6835-3p	HITS-CLIP	23313552
MIRT693817	hsa-miR-4422	HITS-CLIP	23313552
MIRT693816	hsa-miR-29a-3p	HITS-CLIP	23313552
MIRT693815	hsa-miR-29b-3p	HITS-CLIP	23313552
MIRT693814	hsa-miR-29c-3p	HITS-CLIP	23313552
MIRT693813	hsa-miR-3065-5p	HITS-CLIP	23313552
MIRT693812	hsa-miR-4733-3p	HITS-CLIP	23313552
MIRT693811	hsa-miR-3128	HITS-CLIP	23313552
MIRT693810	hsa-miR-196a-3p	HITS-CLIP	23313552
MIRT693809	hsa-miR-653-3p	HITS-CLIP	23313552
MIRT439686	hsa-miR-127-3p	HITS-CLIP	24374217
MIRT439685	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439686	hsa-miR-127-3p	HITS-CLIP	24374217
MIRT439685	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT693818	hsa-miR-6835-3p	HITS-CLIP	23313552
MIRT693817	hsa-miR-4422	HITS-CLIP	23313552
MIRT693816	hsa-miR-29a-3p	HITS-CLIP	23313552
MIRT693815	hsa-miR-29b-3p	HITS-CLIP	23313552
MIRT693814	hsa-miR-29c-3p	HITS-CLIP	23313552
MIRT693813	hsa-miR-3065-5p	HITS-CLIP	23313552
MIRT693812	hsa-miR-4733-3p	HITS-CLIP	23313552
MIRT693811	hsa-miR-3128	HITS-CLIP	23313552
MIRT693810	hsa-miR-196a-3p	HITS-CLIP	23313552
MIRT693809	hsa-miR-653-3p	HITS-CLIP	23313552
MIRT1333261	hsa-miR-1224-5p	CLIP-seq
MIRT1333262	hsa-miR-18a	CLIP-seq
MIRT1333263	hsa-miR-18b	CLIP-seq
MIRT1333264	hsa-miR-214	CLIP-seq
MIRT1333265	hsa-miR-29a	CLIP-seq
MIRT1333266	hsa-miR-29b	CLIP-seq
MIRT1333267	hsa-miR-29c	CLIP-seq
MIRT1333268	hsa-miR-3074-3p	CLIP-seq
MIRT1333269	hsa-miR-3136-5p	CLIP-seq
MIRT1333270	hsa-miR-3168	CLIP-seq
MIRT1333271	hsa-miR-3619-5p	CLIP-seq
MIRT1333272	hsa-miR-4263	CLIP-seq
MIRT1333273	hsa-miR-4277	CLIP-seq
MIRT1333274	hsa-miR-4280	CLIP-seq
MIRT1333275	hsa-miR-4291	CLIP-seq
MIRT1333276	hsa-miR-4303	CLIP-seq
MIRT1333277	hsa-miR-4439	CLIP-seq
MIRT1333278	hsa-miR-4468	CLIP-seq
MIRT1333279	hsa-miR-4521	CLIP-seq
MIRT1333280	hsa-miR-4716-5p	CLIP-seq
MIRT1333281	hsa-miR-4735-3p	CLIP-seq
MIRT1333282	hsa-miR-4751	CLIP-seq
MIRT1333283	hsa-miR-4759	CLIP-seq
MIRT1333284	hsa-miR-496	CLIP-seq
MIRT1333285	hsa-miR-554	CLIP-seq
MIRT1333286	hsa-miR-761	CLIP-seq
MIRT1333287	hsa-miR-922	CLIP-seq
MIRT1333288	hsa-miR-943	CLIP-seq
MIRT1333265	hsa-miR-29a	CLIP-seq
MIRT1333266	hsa-miR-29b	CLIP-seq
MIRT1333267	hsa-miR-29c	CLIP-seq
MIRT1333270	hsa-miR-3168	CLIP-seq
MIRT1333273	hsa-miR-4277	CLIP-seq
MIRT1333276	hsa-miR-4303	CLIP-seq
MIRT1333278	hsa-miR-4468	CLIP-seq
MIRT1333273	hsa-miR-4277	CLIP-seq
MIRT1333278	hsa-miR-4468	CLIP-seq
MIRT1333278	hsa-miR-4468	CLIP-seq
MIRT1333265	hsa-miR-29a	CLIP-seq
MIRT1333266	hsa-miR-29b	CLIP-seq
MIRT1333267	hsa-miR-29c	CLIP-seq
MIRT1333261	hsa-miR-1224-5p	CLIP-seq
MIRT2619111	hsa-miR-1321	CLIP-seq
MIRT1333262	hsa-miR-18a	CLIP-seq
MIRT1333263	hsa-miR-18b	CLIP-seq
MIRT1333264	hsa-miR-214	CLIP-seq
MIRT1333265	hsa-miR-29a	CLIP-seq
MIRT1333266	hsa-miR-29b	CLIP-seq
MIRT1333267	hsa-miR-29c	CLIP-seq
MIRT1333268	hsa-miR-3074-3p	CLIP-seq
MIRT2619112	hsa-miR-3117-5p	CLIP-seq
MIRT1333269	hsa-miR-3136-5p	CLIP-seq
MIRT2619113	hsa-miR-3162-5p	CLIP-seq
MIRT1333270	hsa-miR-3168	CLIP-seq
MIRT2619114	hsa-miR-3194-3p	CLIP-seq
MIRT2619115	hsa-miR-361-5p	CLIP-seq
MIRT1333271	hsa-miR-3619-5p	CLIP-seq
MIRT2619116	hsa-miR-374a	CLIP-seq
MIRT2619117	hsa-miR-374b	CLIP-seq
MIRT2619118	hsa-miR-3915	CLIP-seq
MIRT2619119	hsa-miR-3928	CLIP-seq
MIRT1333272	hsa-miR-4263	CLIP-seq
MIRT2619120	hsa-miR-4268	CLIP-seq
MIRT1333273	hsa-miR-4277	CLIP-seq
MIRT1333274	hsa-miR-4280	CLIP-seq
MIRT1333275	hsa-miR-4291	CLIP-seq
MIRT1333276	hsa-miR-4303	CLIP-seq
MIRT1333277	hsa-miR-4439	CLIP-seq
MIRT2619121	hsa-miR-4448	CLIP-seq
MIRT2619122	hsa-miR-4461	CLIP-seq
MIRT1333278	hsa-miR-4468	CLIP-seq
MIRT1333279	hsa-miR-4521	CLIP-seq
MIRT1333280	hsa-miR-4716-5p	CLIP-seq
MIRT2619123	hsa-miR-4729	CLIP-seq
MIRT1333281	hsa-miR-4735-3p	CLIP-seq
MIRT2619124	hsa-miR-4739	CLIP-seq
MIRT1333282	hsa-miR-4751	CLIP-seq
MIRT2619125	hsa-miR-4756-5p	CLIP-seq
MIRT1333283	hsa-miR-4759	CLIP-seq
MIRT2619126	hsa-miR-4775	CLIP-seq
MIRT2619127	hsa-miR-4799-5p	CLIP-seq
MIRT2619128	hsa-miR-491-3p	CLIP-seq
MIRT1333284	hsa-miR-496	CLIP-seq
MIRT2619129	hsa-miR-548l	CLIP-seq
MIRT2619130	hsa-miR-548n	CLIP-seq
MIRT1333285	hsa-miR-554	CLIP-seq
MIRT2619131	hsa-miR-576-5p	CLIP-seq
MIRT2619132	hsa-miR-586	CLIP-seq
MIRT2619133	hsa-miR-590-3p	CLIP-seq
MIRT1333286	hsa-miR-761	CLIP-seq
MIRT1333287	hsa-miR-922	CLIP-seq
MIRT1333288	hsa-miR-943	CLIP-seq
MIRT1333261	hsa-miR-1224-5p	CLIP-seq
MIRT2619111	hsa-miR-1321	CLIP-seq
MIRT1333262	hsa-miR-18a	CLIP-seq
MIRT1333263	hsa-miR-18b	CLIP-seq
MIRT1333264	hsa-miR-214	CLIP-seq
MIRT1333265	hsa-miR-29a	CLIP-seq
MIRT1333266	hsa-miR-29b	CLIP-seq
MIRT1333267	hsa-miR-29c	CLIP-seq
MIRT1333268	hsa-miR-3074-3p	CLIP-seq
MIRT2619112	hsa-miR-3117-5p	CLIP-seq
MIRT1333269	hsa-miR-3136-5p	CLIP-seq
MIRT2619113	hsa-miR-3162-5p	CLIP-seq
MIRT1333270	hsa-miR-3168	CLIP-seq
MIRT2619114	hsa-miR-3194-3p	CLIP-seq
MIRT2619115	hsa-miR-361-5p	CLIP-seq
MIRT1333271	hsa-miR-3619-5p	CLIP-seq
MIRT2619116	hsa-miR-374a	CLIP-seq
MIRT2619117	hsa-miR-374b	CLIP-seq
MIRT2619118	hsa-miR-3915	CLIP-seq
MIRT2619119	hsa-miR-3928	CLIP-seq
MIRT1333272	hsa-miR-4263	CLIP-seq
MIRT2619120	hsa-miR-4268	CLIP-seq
MIRT1333273	hsa-miR-4277	CLIP-seq
MIRT1333274	hsa-miR-4280	CLIP-seq
MIRT1333275	hsa-miR-4291	CLIP-seq
MIRT1333276	hsa-miR-4303	CLIP-seq
MIRT1333277	hsa-miR-4439	CLIP-seq
MIRT2619121	hsa-miR-4448	CLIP-seq
MIRT2619122	hsa-miR-4461	CLIP-seq
MIRT1333278	hsa-miR-4468	CLIP-seq
MIRT1333279	hsa-miR-4521	CLIP-seq
MIRT1333280	hsa-miR-4716-5p	CLIP-seq
MIRT2619123	hsa-miR-4729	CLIP-seq
MIRT1333281	hsa-miR-4735-3p	CLIP-seq
MIRT2619124	hsa-miR-4739	CLIP-seq
MIRT1333282	hsa-miR-4751	CLIP-seq
MIRT2619125	hsa-miR-4756-5p	CLIP-seq
MIRT1333283	hsa-miR-4759	CLIP-seq
MIRT2619127	hsa-miR-4799-5p	CLIP-seq
MIRT2619128	hsa-miR-491-3p	CLIP-seq
MIRT1333284	hsa-miR-496	CLIP-seq
MIRT2619129	hsa-miR-548l	CLIP-seq
MIRT2619130	hsa-miR-548n	CLIP-seq
MIRT1333285	hsa-miR-554	CLIP-seq
MIRT2619131	hsa-miR-576-5p	CLIP-seq
MIRT2619132	hsa-miR-586	CLIP-seq
MIRT1333286	hsa-miR-761	CLIP-seq
MIRT1333287	hsa-miR-922	CLIP-seq
MIRT1333288	hsa-miR-943	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005198	Function	Structural molecule activity	IBA
GO:0005515	Function	Protein binding	IPI	16407955, 16957052, 17196169, 17214967, 18692470, 19822759, 20696395, 25416956, 25667979, 27716508, 32296183, 32707033, 33961781, 35271311
GO:0005737	Component	Cytoplasm	IDA	17196169
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	17196169
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IEA
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	NAS	10788476
GO:0007029	Process	Endoplasmic reticulum organization	IBA
GO:0012505	Component	Endomembrane system	IEA
GO:0012507	Component	ER to Golgi transport vesicle membrane	IEA
GO:0012507	Component	ER to Golgi transport vesicle membrane	TAS
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0030120	Component	Vesicle coat	IDA	22792322
GO:0030120	Component	Vesicle coat	IEA
GO:0030127	Component	COPII vesicle coat	IBA
GO:0030127	Component	COPII vesicle coat	IDA	17499046, 27716508
GO:0030127	Component	COPII vesicle coat	NAS	10788476
GO:0030134	Component	COPII-coated ER to Golgi transport vesicle	IDA	22358839, 22802641
GO:0030134	Component	COPII-coated ER to Golgi transport vesicle	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0048306	Function	Calcium-dependent protein binding	IPI	16957052, 17196169
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	17196169, 19401338
GO:0051592	Process	Response to calcium ion	IDA	17196169
GO:0070971	Component	Endoplasmic reticulum exit site	IBA
GO:0070971	Component	Endoplasmic reticulum exit site	IDA	25201882, 28442536
GO:0070971	Component	Endoplasmic reticulum exit site	IEA
GO:0070971	Component	Endoplasmic reticulum exit site	IMP	16957052
GO:0090110	Process	COPII-coated vesicle cargo loading	IBA
GO:0090110	Process	COPII-coated vesicle cargo loading	IDA	17499046, 18843296

MIM	HGNC	e!Ensembl
610257	17052	ENSG00000138674

O94979

Protein name

Protein transport protein Sec31A (ABP125) (ABP130) (SEC31-like protein 1) (SEC31-related protein A) (Web1-like protein)

Protein 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 mem

PDB

3WXA , 7SUL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12931	Sec16_C	573 → 772	Sec23-binding domain of Sec16	Domain

Tissue specificity

TISSUE SPECIFICITY: Abundantly and ubiquitously expressed. {ECO:0000269|PubMed:10574704, ECO:0000269|PubMed:10788476}.

Sequence

MKLKEVDRTAMQAWSPAQNHPIYLATGTSAQQLDATFSTNASLEIFELDLSDPSLDMKSC
ATFSSSHRYHKLIWGPYKMDSKGDVSGVLIAGGENGNIILYDPSKIIAGDKEVVIAQNDK
HTGPVRALDVNIFQTNLVASGANESEIYIWDLNNFATPMTPGAKTQPPEDISCIAWNRQV
QHILASASPSGRATVWDLRKNEPIIKVSDHSNRMHCSGLAWHPDVATQMVLASEDDRLPV
IQMWDLRFASSPLRVLENHARGILAIAWSMADPELLLSCGKDAKILCSNPNTGEVLYELP
TNTQWCFDIQWCPRNPAVLSAASFDGRISVYSIMGGSTDGLRQKQVDKLSSSFGNLDPFG
TGQPLPPLQIPQQTAQHSIVLPLKKPPKWIRRPVGASFSFGGKLVTFENVRMPSHQGAEQ
QQQQHHVFISQVVTEKEFLSRSDQLQQAVQSQGFINYCQKKIDASQTEFEKNVWSFLKVN
FEDDSRGKYLELLGYRKEDLGKKIALALNKVDGANVALKDSDQVAQSDGEESPAAEEQLL
GEHIKEEKEESEFLPSSGGTFNISVSGDIDGLITQALLTGNFESAVDLCLHDNRMADAII
LAIAGGQELLARTQKKYFAKSQSKITRLITAVVMKNWKEIVESCDLKNWREALAAVLTYA
KPDEFSALCDLLGTRLENEGDSLLQTQACLCYICAGNVEKLVACWTKAQDGSHPLSLQDL
IEKVVILRKAVQLTQAMDTSTVGVLLAAKMSQYANLLAAQGSIAAALAFLPDNTNQPNIM
QLRDRLCRAQGEPVAGHESPKIPYEKQQLPKGRPGPVAGHHQMPRVQTQQYYPHGENPPP
PGFIMHGNVNPNAAGQLPTSPGHMHTQVPPYPQPQPYQPAQPYPFGTGGSAMYRPQQPVA
PPTSNAYPNTPYISSASSYTGQSQLYAAQHQASSPTSSPATSFPPPPSSGASFQHGGPGA
PPSSSAYALPPGTTGTLPAASELPASQRTGPQNGWNDPPALNRVPKKKKMPENFMPPVPI
TSPIMNPLGDPQSQMLQQQPSAPVPLSSQSSFPQPHLPGGQPFHGVQQPLGQTGMPPSFS
KPNIEGAPGAPIGNTFQHVQSLPTKKITKKPIPDEHLILKTTFEDLIQRCLSSATDPQTK
RKLDDASKRLEFLYDKLREQTLSPTITSGLHNIARSIETRNYSEGLTMHTHIVSTSNFSE
TSAFMPVLKVVLTQANKLGV

Sequence length

1220

Interactions

View interactions

	KEGG		Reactome
	Protein processing in endoplasmic reticulum		COPII-mediated vesicle transport MHC class II antigen presentation XBP1(S) activates chaperone genes Antigen Presentation: Folding, assembly and peptide loading of class I MHC

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies	Pathogenic	rs1578188501	RCV000855664	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kaya-Barakat-Masson syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOMA, LARGE B-CELL, DIFFUSE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEC31A-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	25715771	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Associate	25715771	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fasciitis	Associate	30139549	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Associate	25715771	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma B Cell	Associate	20207848	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microsatellite Instability	Associate	33170334	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	28854272	★★★★★ ★☆☆☆☆ Found in Text Mining only

SEC31A (SEC31 homolog A, COPII component)