Gamma-aminobutyric acid receptor subunit alpha-1

<p>Provides any useful information about the protein, mostly biological knowledge.</p><p><a href='../manual/function_section' target='_top'>More...</a></p>Functionⁱ

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• drug binding Source: BHF-UCL
• GABA-A receptor activity Source: ProtInc

  <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementⁱ

  • 2465923

• GABA-gated chloride ion channel activity Source: GO_Central

  <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ

  • 9039914

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Biological processⁱ

• cellular response to histamine Source: Ensembl
• chloride transmembrane transport Source: GO_Central

  <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ

  • 9039914

• gamma-aminobutyric acid signaling pathway Source: ProtInc

  <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementⁱ

  • 2465923

• ion transmembrane transport Source: Reactome
• synaptic transmission, GABAergic Source: BHF-UCL
• transport Source: ProtInc

  <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementⁱ

  • 2465923

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Molecular functionⁱ

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Biological processⁱ

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Ligandⁱ

Enzyme and pathway databases

Protein family/group databases

<p>Provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.</p><p><a href='../manual/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>Provides information on the location and the topology of the mature protein in the cell.</p><p><a href='../manual/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

Topology

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.</p><p><a href='../manual/topo_dom' target='_top'>More...</a></p>Topological domaini	28 – 251	224	ExtracellularCurated			Add BLAST
<p>Describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.</p><p><a href='../manual/transmem' target='_top'>More...</a></p>Transmembranei	252 – 273	22	HelicalCurated			Add BLAST
<p>Describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.</p><p><a href='../manual/transmem' target='_top'>More...</a></p>Transmembranei	279 – 300	22	HelicalCurated			Add BLAST
<p>Describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.</p><p><a href='../manual/transmem' target='_top'>More...</a></p>Transmembranei	313 – 334	22	HelicalCurated			Add BLAST
<p>Describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.</p><p><a href='../manual/topo_dom' target='_top'>More...</a></p>Topological domaini	335 – 421	87	CytoplasmicCurated			Add BLAST
<p>Describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.</p><p><a href='../manual/transmem' target='_top'>More...</a></p>Transmembranei	422 – 443	22	HelicalCurated			Add BLAST

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Cellular componentⁱ

• cell junction Source: UniProtKB-KW
• chloride channel complex Source: UniProtKB-KW
• GABA-A receptor complex Source: GO_Central

  <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ

  • 9039914

• GABA receptor complex Source: BHF-UCL
• integral component of plasma membrane Source: BHF-UCL
• plasma membrane Source: Reactome
• postsynaptic membrane Source: UniProtKB-SubCell

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componentⁱ

<p>Provides information on the disease(s) and phenotype(s) associated with a protein.</p><p><a href='../manual/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechⁱ

<p>Provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim"><span class="caps">OMIM</span></a> database are represented with a <a href="/diseases">controlled vocabulary</a> in the following way:</p><p><a href='../manual/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseaseⁱ

Epilepsy, idiopathic generalized 13 (EIG13)1 Publication

<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment inⁱ

• Ref.5

  "Novel alpha1 and gamma2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy."
  Lachance-Touchette P., Brown P., Meloche C., Kinirons P., Lapointe L., Lacasse H., Lortie A., Carmant L., Bedford F., Bowie D., Cossette P.
  Eur. J. Neurosci. 34:237-249(2011) [PubMed] [Europe PMC] [Abstract]

  Cited for: INVOLVEMENT IN EIG13, VARIANT EIG13 ASN-219, CHARACTERIZATION OF VARIANT EIG13 ASN-219.

Disease susceptibility is associated with variations affecting the gene represented in this entry.

Disease descriptionA disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures.

See also OMIM:611136

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	219 – 219	1	D → N in EIG13; the mutant protein is partially retained in the endoplasmic reticulum and has decreased expression at the plasma membrane; causes decreased current amplitude in response to GABA compared to wild-type and alters receptor gating kinetics including faster desensitization. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.5 "Novel alpha1 and gamma2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy." Lachance-Touchette P., Brown P., Meloche C., Kinirons P., Lapointe L., Lacasse H., Lortie A., Carmant L., Bedford F., Bowie D., Cossette P. Eur. J. Neurosci. 34:237-249(2011) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN EIG13, VARIANT EIG13 ASN-219, CHARACTERIZATION OF VARIANT EIG13 ASN-219. Corresponds to variant rs587777364 [ dbSNP | Ensembl ].		VAR_071810

Juvenile myoclonic epilepsy 5 (EJM5)1 Publication

<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment inⁱ

• Ref.7

  "Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy."
  Cossette P., Liu L., Brisebois K., Dong H., Lortie A., Vanasse M., Saint-Hilaire J.-M., Carmant L., Verner A., Lu W.-Y., Tian Wang Y., Rouleau G.A.
  Nat. Genet. 31:184-189(2002) [PubMed] [Europe PMC] [Abstract]

  Cited for: VARIANT EJM5 ASP-322.

Disease susceptibility is associated with variations affecting the gene represented in this entry.

Disease descriptionA subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue.

See also OMIM:611136

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	322 – 322	1	A → D in EJM5. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.7 "Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy." Cossette P., Liu L., Brisebois K., Dong H., Lortie A., Vanasse M., Saint-Hilaire J.-M., Carmant L., Verner A., Lu W.-Y., Tian Wang Y., Rouleau G.A. Nat. Genet. 31:184-189(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT EJM5 ASP-322. Corresponds to variant rs121434579 [ dbSNP | Ensembl ].		VAR_013642

Epileptic encephalopathy, early infantile, 19 (EIEE19)1 Publication

<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment inⁱ

• Ref.6

  "GABRA1 and STXBP1: novel genetic causes of Dravet syndrome."
  Carvill G.L., Weckhuysen S., McMahon J.M., Hartmann C., Moller R.S., Hjalgrim H., Cook J., Geraghty E., O'Roak B.J., Petrou S., Clarke A., Gill D., Sadleir L.G., Muhle H., von Spiczak S., Nikanorova M., Hodgson B.L., Gazina E.V.

  , Suls A., Shendure J., Dibbens L.M., De Jonghe P., Helbig I., Berkovic S.F., Scheffer I.E., Mefford H.C.
  Neurology 82:1245-1253(2014) [PubMed] [Europe PMC] [Abstract]

  Cited for: INVOLVEMENT IN EIEE19, VARIANTS EIEE19 GLN-112; SER-251 AND THR-306.

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA severe neurologic disorder characterized by onset of seizures in the first months of life and usually associated with EEG abnormalities. Affected infants have convulsive seizures (hemiclonic or generalized) that are often prolonged and triggered by fever. Other seizure types include focal, myoclonic, absence seizures, and drop attacks. Development is normal in the first year of life with later slowing and intellectual disability.

See also OMIM:615744

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	112 – 112	1	R → Q in EIEE19. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.6 "GABRA1 and STXBP1: novel genetic causes of Dravet syndrome." Carvill G.L., Weckhuysen S., McMahon J.M., Hartmann C., Moller R.S., Hjalgrim H., Cook J., Geraghty E., O'Roak B.J., Petrou S., Clarke A., Gill D., Sadleir L.G., Muhle H., von Spiczak S., Nikanorova M., Hodgson B.L., Gazina E.V. , Suls A., Shendure J., Dibbens L.M., De Jonghe P., Helbig I., Berkovic S.F., Scheffer I.E., Mefford H.C. Neurology 82:1245-1253(2014) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN EIEE19, VARIANTS EIEE19 GLN-112; SER-251 AND THR-306. Corresponds to variant rs587777308 [ dbSNP | Ensembl ].		VAR_071809
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	251 – 251	1	G → S in EIEE19. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.6 "GABRA1 and STXBP1: novel genetic causes of Dravet syndrome." Carvill G.L., Weckhuysen S., McMahon J.M., Hartmann C., Moller R.S., Hjalgrim H., Cook J., Geraghty E., O'Roak B.J., Petrou S., Clarke A., Gill D., Sadleir L.G., Muhle H., von Spiczak S., Nikanorova M., Hodgson B.L., Gazina E.V. , Suls A., Shendure J., Dibbens L.M., De Jonghe P., Helbig I., Berkovic S.F., Scheffer I.E., Mefford H.C. Neurology 82:1245-1253(2014) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN EIEE19, VARIANTS EIEE19 GLN-112; SER-251 AND THR-306. Corresponds to variant rs587777307 [ dbSNP | Ensembl ].		VAR_071811
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	306 – 306	1	K → T in EIEE19. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.6 "GABRA1 and STXBP1: novel genetic causes of Dravet syndrome." Carvill G.L., Weckhuysen S., McMahon J.M., Hartmann C., Moller R.S., Hjalgrim H., Cook J., Geraghty E., O'Roak B.J., Petrou S., Clarke A., Gill D., Sadleir L.G., Muhle H., von Spiczak S., Nikanorova M., Hodgson B.L., Gazina E.V. , Suls A., Shendure J., Dibbens L.M., De Jonghe P., Helbig I., Berkovic S.F., Scheffer I.E., Mefford H.C. Neurology 82:1245-1253(2014) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN EIEE19, VARIANTS EIEE19 GLN-112; SER-251 AND THR-306. Corresponds to variant rs587777309 [ dbSNP | Ensembl ].		VAR_071812

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Diseaseⁱ

Organism-specific databases

Chemistry

Polymorphism and mutation databases

<p>Describes post-translational modifications (PTMs) and/or processing events.</p><p><a href='../manual/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Denotes the presence of an N-terminal signal peptide.</p><p><a href='../manual/signal' target='_top'>More...</a></p>Signal peptidei	1 – 27	27	Sequence analysis			Add BLAST
<p>Describes the extent of a polypeptide chain in the mature protein following processing.</p><p><a href='../manual/chain' target='_top'>More...</a></p>Chaini	28 – 456	429	Gamma-aminobutyric acid receptor subunit alpha-1		PRO_0000000428	Add BLAST

Amino acid modifications

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).</p><p><a href='../manual/carbohyd' target='_top'>More...</a></p>Glycosylationi	38 – 38	1	N-linked (GlcNAc...)Sequence analysis
<p>Specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).</p><p><a href='../manual/carbohyd' target='_top'>More...</a></p>Glycosylationi	138 – 138	1	N-linked (GlcNAc...)Sequence analysis
<p>Describes the positions of cysteine residues participating in disulfide bonds.</p><p><a href='../manual/disulfid' target='_top'>More...</a></p>Disulfide bondi	166 ↔ 180		By similarity

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - PTMⁱ

Proteomic databases

PTM databases

<p>Provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.</p><p><a href='../manual/expression_section' target='_top'>More...</a></p>Expressionⁱ

Gene expression databases

Organism-specific databases

<p>Provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.</p><p><a href='../manual/interaction_section' target='_top'>More...</a></p>Interactionⁱ

<p>Provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="/help/function_section">‘Function’</a> section).</p><p><a href='../manual/subunit_structure' target='_top'>More...</a></p>Subunit structureⁱ

Protein-protein interaction databases

Chemistry

<p>Provides information on the tertiary and secondary structure of a protein.</p><p><a href='../manual/structure_section' target='_top'>More...</a></p>Structureⁱ

3D structure databases

<p>Provides information on sequence similarities with other proteins and the domain(s) present in a protein.</p><p><a href='../manual/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

<p>Provides information about the sequence similarity with other proteins.</p><p><a href='../manual/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesⁱ

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Domainⁱ

Phylogenomic databases

Family and domain databases

<p>Displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including length and molecular weight.</p><p><a href='../manual/sequences_section' target='_top'>More...</a></p>Sequenceⁱ

<p>Indicates if the <a href="/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.</p><p><a href='../manual/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

<p>Indicates if the <a href="/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.</p><p><a href='../manual/sequence_processing' target='_top'>More...</a></p>Sequence processingⁱ: The displayed sequence is further processed into a mature form.

        10         20         30         40         50
MRKSPGLSDC LWAWILLLST LTGRSYGQPS LQDELKDNTT VFTRILDRLL 
        60         70         80         90        100
DGYDNRLRPG LGERVTEVKT DIFVTSFGPV SDHDMEYTID VFFRQSWKDE 
       110        120        130        140        150
RLKFKGPMTV LRLNNLMASK IWTPDTFFHN GKKSVAHNMT MPNKLLRITE 
       160        170        180        190        200
DGTLLYTMRL TVRAECPMHL EDFPMDAHAC PLKFGSYAYT RAEVVYEWTR 
       210        220        230        240        250
EPARSVVVAE DGSRLNQYDL LGQTVDSGIV QSSTGEYVVM TTHFHLKRKI 
       260        270        280        290        300
GYFVIQTYLP CIMTVILSQV SFWLNRESVP ARTVFGVTTV LTMTTLSISA 
       310        320        330        340        350
RNSLPKVAYA TAMDWFIAVC YAFVFSALIE FATVNYFTKR GYAWDGKSVV 
       360        370        380        390        400
PEKPKKVKDP LIKKNNTYAP TATSYTPNLA RGDPGLATIA KSATIEPKEV 
       410        420        430        440        450
KPETKPPEPK KTFNSVSKID RLSRIAFPLL FGIFNLVYWA TYLNREPQLK 

APTPHQ                                             

Experimental Info

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.</p><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti	122 – 122	1	W → R in CAA32874 (PubMed:2465923).Curated
<p>Reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.</p><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti	128 – 140	13	Missing in CAA31925 (PubMed:2847710).Curated			Add BLAST
<p>Reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.</p><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti	204 – 204	1	R → H in CAA31925 (PubMed:2847710).Curated
<p>Reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.</p><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti	315 – 315	1	W → WDW in CAA31925 (PubMed:2847710).Curated
<p>Reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.</p><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti	362 – 365	4	IKKN → FPNS in CAA31925 (PubMed:2847710).Curated

Natural variant

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	112 – 112	1	R → Q in EIEE19. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.6 "GABRA1 and STXBP1: novel genetic causes of Dravet syndrome." Carvill G.L., Weckhuysen S., McMahon J.M., Hartmann C., Moller R.S., Hjalgrim H., Cook J., Geraghty E., O'Roak B.J., Petrou S., Clarke A., Gill D., Sadleir L.G., Muhle H., von Spiczak S., Nikanorova M., Hodgson B.L., Gazina E.V. , Suls A., Shendure J., Dibbens L.M., De Jonghe P., Helbig I., Berkovic S.F., Scheffer I.E., Mefford H.C. Neurology 82:1245-1253(2014) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN EIEE19, VARIANTS EIEE19 GLN-112; SER-251 AND THR-306. Corresponds to variant rs587777308 [ dbSNP | Ensembl ].		VAR_071809
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	219 – 219	1	D → N in EIG13; the mutant protein is partially retained in the endoplasmic reticulum and has decreased expression at the plasma membrane; causes decreased current amplitude in response to GABA compared to wild-type and alters receptor gating kinetics including faster desensitization. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.5 "Novel alpha1 and gamma2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy." Lachance-Touchette P., Brown P., Meloche C., Kinirons P., Lapointe L., Lacasse H., Lortie A., Carmant L., Bedford F., Bowie D., Cossette P. Eur. J. Neurosci. 34:237-249(2011) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN EIG13, VARIANT EIG13 ASN-219, CHARACTERIZATION OF VARIANT EIG13 ASN-219. Corresponds to variant rs587777364 [ dbSNP | Ensembl ].		VAR_071810
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	251 – 251	1	G → S in EIEE19. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.6 "GABRA1 and STXBP1: novel genetic causes of Dravet syndrome." Carvill G.L., Weckhuysen S., McMahon J.M., Hartmann C., Moller R.S., Hjalgrim H., Cook J., Geraghty E., O'Roak B.J., Petrou S., Clarke A., Gill D., Sadleir L.G., Muhle H., von Spiczak S., Nikanorova M., Hodgson B.L., Gazina E.V. , Suls A., Shendure J., Dibbens L.M., De Jonghe P., Helbig I., Berkovic S.F., Scheffer I.E., Mefford H.C. Neurology 82:1245-1253(2014) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN EIEE19, VARIANTS EIEE19 GLN-112; SER-251 AND THR-306. Corresponds to variant rs587777307 [ dbSNP | Ensembl ].		VAR_071811
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	306 – 306	1	K → T in EIEE19. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.6 "GABRA1 and STXBP1: novel genetic causes of Dravet syndrome." Carvill G.L., Weckhuysen S., McMahon J.M., Hartmann C., Moller R.S., Hjalgrim H., Cook J., Geraghty E., O'Roak B.J., Petrou S., Clarke A., Gill D., Sadleir L.G., Muhle H., von Spiczak S., Nikanorova M., Hodgson B.L., Gazina E.V. , Suls A., Shendure J., Dibbens L.M., De Jonghe P., Helbig I., Berkovic S.F., Scheffer I.E., Mefford H.C. Neurology 82:1245-1253(2014) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN EIEE19, VARIANTS EIEE19 GLN-112; SER-251 AND THR-306. Corresponds to variant rs587777309 [ dbSNP | Ensembl ].		VAR_071812
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	322 – 322	1	A → D in EJM5. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.7 "Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy." Cossette P., Liu L., Brisebois K., Dong H., Lortie A., Vanasse M., Saint-Hilaire J.-M., Carmant L., Verner A., Lu W.-Y., Tian Wang Y., Rouleau G.A. Nat. Genet. 31:184-189(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT EJM5 ASP-322. Corresponds to variant rs121434579 [ dbSNP | Ensembl ].		VAR_013642

Sequence databases

Genome annotation databases

<p>Is used to point to information related to entries and found in data collections other than UniProtKB.</p><p><a href='../manual/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

<p>Provides links to various web resources that are relevant for a specific protein.</p><p><a href='../manual/web_resource' target='_top'>More...</a></p>Web resourcesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry

Protein family/group databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>Provides general information on the entry.</p><p><a href='../manual/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

<p>Contains any relevant information that doesn’t fit in any other defined sections</p><p><a href='../manual/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousⁱ

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Technical termⁱ

Documents

1. Human chromosome 5
   Human chromosome 5: entries, gene names and cross-references to MIM
2. Human entries with polymorphisms or disease mutations
   List of human entries with polymorphisms or disease mutations
3. Human polymorphisms and disease mutations
   Index of human polymorphisms and disease mutations
4. MIM cross-references
   Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
5. Protein Spotlight
   Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
6. SIMILARITY comments
   Index of protein domains and families

<p>Provides links to the UniProt Reference Clusters (<a href="/help/uniref">UniRef</a>). UniRef consists of clusters for UniProtKB sequences (including isoforms) and selected UniParc sequences, in order to obtain complete coverage of the sequence space at resolutions of 100%, 90% and 50% identity.</p><p><a href='../manual/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ