ENSG00000170175
Homo sapiens membrane CHRNB1 activity neurotransmitter-gated ion-channel channel transmembrane muscle ion domain postsynaptic transport acetylcholine receptor potential ligand-binding superfamily contraction cation synaptic transmission regulation plasma integral component acetylcholine-gated ligand-gated autosomal inheritance face weakness
Features Gene ID: ENSG00000170175 Biological name :CHRNB1 Synonyms : cholinergic receptor nicotinic beta 1 subunit / / Possible biological names infered from orthology : Species: Homo sapiens Chr. number: 17 Strand: 1 Band: p13.1 Gene start: 7445061 Gene end: 7457707 Corresponding Affymetrix probe sets: 206703_at (Human Genome U133 Plus 2.0 Array) Cross references: Ensembl peptide - ENSP000004392091140
See in Manteia .
100710 NM_000747 NP_000738 I3L4N5 I3L1T7 P11230 I3L535 I3L3Q9 ENSG00000170175 Related genetic diseases (OMIM): 616313 - Myasthenic syndrome, congenital, 2A, slow-channel, 616313 616314 - ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314
See expression report in BioGPS See gene description in Wikigenes See gene description in GeneCards See co-cited genes in PubMed Ortholog prediction (from Ensembl )Paralog prediction (from Ensembl ) CHRNG / P07510 / cholinergic receptor nicotinic gamma subunit ENSG00000196811 41 CHRND / Q07001 / cholinergic receptor nicotinic delta subunit ENSG00000135902 40 CHRNE / Q04844 / cholinergic receptor nicotinic epsilon subunit ENSG00000108556 38 CHRNA7 / P36544 / cholinergic receptor nicotinic alpha 7 subunit ENSG00000175344 31 Q9GZZ6 / CHRNA10 / cholinergic receptor nicotinic alpha 10 subunit ENSG00000129749 29 CHRNA9 / Q9UGM1 / cholinergic receptor nicotinic alpha 9 subunit ENSG00000174343 26 Q494W8 / CHRFAM7A / CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion ENSG00000166664 25 HTR3A / P46098 / 5-hydroxytryptamine receptor 3A ENSG00000166736 22 HTR3C / Q8WXA8 / 5-hydroxytryptamine receptor 3C ENSG00000178084 20 HTR3B / O95264 / 5-hydroxytryptamine receptor 3B ENSG00000149305 18 HTR3E / A5X5Y0 / 5-hydroxytryptamine receptor 3E ENSG00000186038 18 HTR3D / Q70Z44 / 5-hydroxytryptamine receptor 3D ENSG00000186090 15
Protein motifs (from Interpro ) IPR002394 Nicotinic acetylcholine receptor IPR006029 Neurotransmitter-gated ion-channel transmembrane domain IPR006201 Neurotransmitter-gated ion-channel IPR006202 Neurotransmitter-gated ion-channel ligand-binding domain IPR018000 Neurotransmitter-gated ion-channel, conserved site IPR036719 Neurotransmitter-gated ion-channel transmembrane domain superfamily IPR036734 Neurotransmitter-gated ion-channel ligand-binding domain superfamily
Gene Ontology (GO ) cellular component organization system process multicellular organismal movement establishment of localization cell communication cellular response to stimulus response to chemical adult behavior regulation of biological quality anatomical structure development cellular developmental process cellular component organization system process multicellular organismal movement establishment of localization cell communication cellular response to stimulus response to chemical adult behavior regulation of biological quality anatomical structure development cellular developmental process cellular component organization system process multicellular organismal movement establishment of localization cell communication cellular response to stimulus response to chemical adult behavior regulation of biological quality anatomical structure development cellular developmental process cellular component organization system process multicellular organismal movement establishment of localization cell communication cellular response to stimulus response to chemical adult behavior regulation of biological quality anatomical structure development cellular developmental process cellular component organization system process multicellular organismal movement establishment of localization cell communication cellular response to stimulus response to chemical adult behavior regulation of biological quality anatomical structure development cellular developmental process cellular component organization system process multicellular organismal movement establishment of localization cell communication cellular response to stimulus response to chemical adult behavior regulation of biological quality anatomical structure development cellular developmental process cellular component organization system process multicellular organismal movement establishment of localization cell communication cellular response to stimulus response to chemical adult behavior regulation of biological quality anatomical structure development cellular developmental process cellular component organization system process multicellular organismal movement establishment of localization cell communication cellular response to stimulus response to chemical adult behavior regulation of biological quality anatomical structure development cellular developmental process cellular component organization system process multicellular organismal movement establishment of localization cell communication cellular response to stimulus response to chemical adult behavior regulation of biological quality anatomical structure development cellular developmental process cellular component organization system process multicellular organismal movement establishment of localization cell communication cellular response to stimulus response to chemical adult behavior regulation of biological quality anatomical structure development cellular developmental process cellular comcellular component organization system procesystem process multicellulamulticellular organismal movement establishmenestablishment of localization cell communicell communication cellular rescellular response to stimulus response to response to chemical adult behaviadult behavior regulation oregulation of biological quality anatomical sanatomical structure development cellular devcellular developmental process signaling receptor activity transmembrane transporter activity ion binding neurotransmitter binding hormone binding drug binding signaling receptor activity transmembrane transporter activity ion binding neurotransmitter binding hormone binding drug binding signaling receptor activity transmembrane transporter activity ion binding neurotransmitter binding hormone binding drug binding signaling receptor activity transmembrane transporter activity ion binding neurotransmitter binding hormone binding drug binding signaling receptor activity transmembrane transporter activity ion binding neurotransmitter binding hormone binding drug binding signaling receptor activity transmembrane transporter activity ion binding neurotransmitter binding hormone binding drug binding signaling receptor activity transmembrane transporter activity ion binding neurotransmitter binding hormone binding drug binding signaling receptor activity transmembrane transporter activity ion binding neurotransmitter binding hormone binding drug binding signaling receptor activity transmembrane transporter activity ion binding neurotransmitter binding hormone binding drug binding signaling receptor activity transmembrane transporter activity ion binding neurotransmitter binding hormone binding drug binding signaling receptor actisignaling receptor activity transmembrane transporttransmembrane transporter activity ion bindingion binding neurotransmitter bindinneurotransmitter binding hormone bindinghormone binding drug bindingdrug binding cell membrane protein-containing complex cell junction synapse cell membrane protein-containing complex cell junction synapse cell membrane protein-containing complex cell junction synapse cell membrane protein-containing complex cell junction synapse cell membrane protein-containing complex cell junction synapse cell membrane protein-containing complex cell junction synapse cell membrane protein-containing complex cell junction synapse cell membrane protein-containing complex cell junction synapse cell membrane protein-containing complex cell junction synapse cell membrane protein-containing complex cell junction synapse cellcell membranemembrane protein-containing complexprotein-containing complex cell junctioncell junction synapsesynapse
Pathways (from Reactome )No match Phenotype (from MGI , Zfin or HPO ) Autosomal recessive inheritance Head and neck abnormality Abnormality of the eyes Abnormality of musculature Abnormality of the musculoskeletal system Abnormality of connective tissue Respiratory abnormality Neurological abnormality Age of onset Abnormality of the digestive system Autosomal recessive inheritance Head and neck abnormality Abnormality of the eyes Abnormality of musculature Abnormality of the musculoskeletal system Abnormality of connective tissue Respiratory abnormality Neurological abnormality Age of onset Abnormality of the digestive system Autosomal recessive inheritance Head and neck abnormality Abnormality of the eyes Abnormality of musculature Abnormality of the musculoskeletal system Abnormality of connective tissue Respiratory abnormality Neurological abnormality Age of onset Abnormality of the digestive system Autosomal recessive inheritance Head and neck abnormality Abnormality of the eyes Abnormality of musculature Abnormality of the musculoskeletal system Abnormality of connective tissue Respiratory abnormality Neurological abnormality Age of onset Abnormality of the digestive system Autosomal recessive inheritance Head and neck abnormality Abnormality of the eyes Abnormality of musculature Abnormality of the musculoskeletal system Abnormality of connective tissue Respiratory abnormality Neurological abnormality Age of onset Abnormality of the digestive system Autosomal recessive inheritance Head and neck abnormality Abnormality of the eyes Abnormality of musculature Abnormality of the musculoskeletal system Abnormality of connective tissue Respiratory abnormality Neurological abnormality Age of onset Abnormality of the digestive system Autosomal recessive inheritance Head and neck abnormality Abnormality of the eyes Abnormality of musculature Abnormality of the musculoskeletal system Abnormality of connective tissue Respiratory abnormality Neurological abnormality Age of onset Abnormality of the digestive system Autosomal recessive inheritance Head and neck abnormality Abnormality of the eyes Abnormality of musculature Abnormality of the musculoskeletal system Abnormality of connective tissue Respiratory abnormality Neurological abnormality Age of onset Abnormality of the digestive system Autosomal recessive inheritance Head and neck abnormality Abnormality of the eyes Abnormality of musculature Abnormality of the musculoskeletal system Abnormality of connective tissue Respiratory abnormality Neurological abnormality Age of onset Abnormality of the digestive system Autosomal recessive inheritance Head and neck abnormality Abnormality of the eyes Abnormality of musculature Abnormality of the musculoskeletal system Abnormality of connective tissue Respiratory abnormality Neurological abnormality Age of onset Abnormality of the digestive system Autosomal receAutosomal recessive inheritance Head and neck Head and neck abnormality Abnormality ofAbnormality of the eyes Abnormality ofAbnormality of musculature Abnormality ofAbnormality of the musculoskeletal system Abnormality ofAbnormality of connective tissue Respiratory abRespiratory abnormality Neurological aNeurological abnormality Age of onsetAge of onset Abnormality ofAbnormality of the digestive system HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show HP:0000218 High palate "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428]
Show HP:0000275 Narrow face
Show HP:0000276 Long face
Show HP:0000508 Ptosis "Drooping of the eyelid." [HPO:curators]
Show HP:0000602 Ophthalmoplegia
Show HP:0001319 Neonatal hypotonia "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators]
Show HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
Show HP:0001371 Contractures
Show HP:0002093 Respiratory insufficiency
Show HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
Show HP:0003388 Easy fatigability
Show HP:0003577 Onset at birth
Show HP:0010628 Facial muscle weakness "A weakness of any or all of the muscles of the face of any etiology." [HPO:curators]
Show HP:0011968 Feeding difficulties "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs]
Show
Interacting proteins (from Reactome )No match
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