Q9UGM1 (ACHA9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Neuronal acetylcholine receptor subunit alpha-9

Alternative name(s):
Nicotinic acetylcholine receptor subunit alpha-9
Short name=NACHR alpha-9

Gene names

Name:	CHRNA9
Synonyms:	NACHRA9

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	479 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Ionotropic receptor with a probable role in the modulation of auditory stimuli. Agonist binding may induce an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. The channel is permeable to a range of divalent cations including calcium, the influx of which may activate a potassium current which hyperpolarizes the cell membrane. In the ear, this may lead to a reduction in basilar membrane motion, altering the activity of auditory nerve fibers and reducing the range of dynamic hearing. This may protect against acoustic trauma. May also regulate keratinocyte adhesion. Ref.1 Ref.5
Subunit structure	Can form homo- or hetero-oligomeric channels in conjunction with CHRNA10. The native outer hair cell receptor may be composed of CHRNA9-CHRNA10 hetero-oligomers.
Subcellular location	Cell junction › synapse › postsynaptic cell membrane; Multi-pass membrane protein Probable. Cell membrane; Multi-pass membrane protein Probable.
Tissue specificity	Expressed in cochlea, keratinocytes, pituitary gland, B-cells and T-cells. Ref.1 Ref.5 Ref.6
Miscellaneous	The hetero-oligomeric receptor composed of CHRNA9 and CHRNA10 has an atypical pharmacological profile, binding several non-nicotinic ligands including strychnine (a glycine receptor antagonist) and atropine (a muscarinic acetylcholine receptor antagonist).
Sequence similarities	Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha-9/CHRNA9 sub-subfamily. [View classification]

Ontologies

Keywords
Biological process	Calcium transport Ion transport Transport
Cellular component	Cell junction Cell membrane Membrane Postsynaptic cell membrane Synapse
Coding sequence diversity	Polymorphism
Domain	Signal Transmembrane Transmembrane helix
Ligand	Calcium
Molecular function	Calcium channel Ion channel Ligand-gated ion channel Receptor
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	detection of mechanical stimulus involved in sensory perception of sound Inferred from electronic annotation. Source: Compara elevation of cytosolic calcium ion concentration Inferred from genetic interaction PubMed 18420419. Source: MGI inner ear morphogenesis Inferred from electronic annotation. Source: Compara synaptic transmission Traceable author statement. Source: Reactome
Cellular_component	acetylcholine-gated channel complex Inferred from electronic annotation. Source: Compara cell junction Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Traceable author statement. Source: Reactome postsynaptic membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	acetylcholine-activated cation-selective channel activity Inferred from electronic annotation. Source: Compara calcium channel activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 25	25	Potential
	Chain	26 – 479	454	Neuronal acetylcholine receptor subunit alpha-9		PRO_0000000371
Regions
	Topological domain	26 – 237	212	Extracellular Potential
	Transmembrane	238 – 262	25	Helical; Potential
	Transmembrane	269 – 287	19	Helical; Potential
	Transmembrane	302 – 323	22	Helical; Potential
	Topological domain	324 – 457	134	Cytoplasmic Potential
	Transmembrane	458 – 476	19	Helical; Potential
Amino acid modifications
	Glycosylation	57	1	N-linked (GlcNAc...) Potential
	Glycosylation	170	1	N-linked (GlcNAc...) Potential
	Disulfide bond	155 ↔ 169		By similarity
	Disulfide bond	219 ↔ 220		Associated with receptor activation By similarity
Natural variations
	Natural variant	96	1	R → Q. Corresponds to variant rs10024518 [ dbSNP | Ensembl ].		VAR_031151
	Natural variant	315	1	A → V. Corresponds to variant rs55633891 [ dbSNP | Ensembl ].		VAR_060996
	Natural variant	442	1	N → S. Ref.1 Ref.2 Ref.4 Corresponds to variant rs10009228 [ dbSNP | Ensembl ].		VAR_025425

Sequences

	Sequence		Length	Mass (Da)
	Q9UGM1 [UniParc]. Last modified October 5, 2010. Version 2. Checksum: AA6B46B559D6111D	FASTA	479	54,807
	10 20 30 40 50 60 MNWSHSCISF CWIYFAASRL RAAETADGKY AQKLFNDLFE DYSNALRPVE DTDKVLNVTL 70 80 90 100 110 120 QITLSQIKDM DERNQILTAY LWIRQIWHDA YLTWDRDQYD GLDSIRIPSD LVWRPDIVLY 130 140 150 160 170 180 NKADDESSEP VNTNVVLRYD GLITWDAPAI TKSSCVVDVT YFPFDNQQCN LTFGSWTYNG 190 200 210 220 230 240 NQVDIFNALD SGDLSDFIED VEWEVHGMPA VKNVISYGCC SEPYPDVTFT LLLKRRSSFY 250 260 270 280 290 300 IVNLLIPCVL ISFLAPLSFY LPAASGEKVS LGVTILLAMT VFQLMVAEIM PASENVPLIG 310 320 330 340 350 360 KYYIATMALI TASTALTIMV MNIHFCGAEA RPVPHWARVV ILKYMSRVLF VYDVGESCLS 370 380 390 400 410 420 PHHSRERDHL TKVYSKLPES NLKAARNKDL SRKKDMNKRL KNDLGCQGKN PQEAESYCAQ 430 440 450 460 470 YKVLTRNIEY IAKCLKDHKA TNSKGSEWKK VAKVIDRFFM WIFFIMVFVM TILIIARAD

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A novel human nicotinic receptor subunit, alpha10, that confers functionality to the alpha9-subunit." Sgard F., Charpantier E., Bertrand S., Walker N., Caput D., Graham D., Bertrand D., Besnard F. Mol. Pharmacol. 61:150-159(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, INTERACTION WITH CHRNA10, TISSUE SPECIFICITY, VARIANT SER-442. Tissue: Embryo.
[2]	"Chromosome location and characterization of the human nicotinic acetylcholine receptor subunit alpha (alpha) 9 (CHRNA9) gene." Lustig L.R., Peng H. Cytogenet. Genome Res. 98:154-159(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT SER-442.
[3]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT SER-442.
[5]	"Novel human alpha9 acetylcholine receptor regulating keratinocyte adhesion is targeted by Pemphigus vulgaris autoimmunity." Nguyen V.T., Ndoye A., Grando S.A. Am. J. Pathol. 157:1377-1391(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 7-476, FUNCTION, TISSUE SPECIFICITY.
[6]	"Characterization of the human nicotinic acetylcholine receptor subunit alpha (alpha) 9 (CHRNA9) and alpha (alpha) 10 (CHRNA10) in lymphocytes." Peng H., Ferris R.L., Matthews T., Hiel H., Lopez-Albaitero A., Lustig L.R. Life Sci. 76:263-280(2004) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ243342 mRNA. Translation: CAB65091.1. AY123244 Genomic DNA. Translation: AAM74523.1. AC118275 Genomic DNA. Translation: AAY40986.1. BC113549 mRNA. Translation: AAI13550.1. BC113575 mRNA. Translation: AAI13576.1. AF227732 mRNA. Translation: AAF61920.1.
IPI	IPI00005432.
RefSeq	NP_060051.2. NM_017581.3.
UniGene	Hs.272278.
3D structure databases
ProteinModelPortal	Q9UGM1.
SMR	Q9UGM1. Positions 29-349.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000312663.
PTM databases
PhosphoSite	Q9UGM1.
Polymorphism databases
DMDM	308153406.
Proteomic databases
PaxDb	Q9UGM1.
PRIDE	Q9UGM1.
Protocols and materials databases
DNASU	55584.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000310169; ENSP00000312663; ENSG00000174343.
GeneID	55584.
KEGG	hsa:55584.
UCSC	uc003gva.1. human.
Organism-specific databases
CTD	55584.
GeneCards	GC04P040337.
H-InvDB	HIX0031380.
HGNC	HGNC:14079. CHRNA9.
MIM	605116. gene.
neXtProt	NX_Q9UGM1.
PharmGKB	PA26493.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG306809.
HOGENOM	HOG000006756.
HOVERGEN	HBG003756.
InParanoid	Q9UGM1.
KO	K04810.
OMA	CAQYKVL.
OrthoDB	EOG470TH4.
PhylomeDB	Q9UGM1.
Enzyme and pathway databases
Reactome	REACT_13685. Neuronal System.
Gene expression databases
Bgee	Q9UGM1.
CleanEx	HS_CHRNA9.
Genevestigator	Q9UGM1.
GermOnline	ENSG00000174343. Homo sapiens.
Family and domain databases
Gene3D	2.70.170.10. 1 hit.
InterPro	IPR006202. Neur_chan_lig-bd. IPR006201. Neur_channel. IPR006029. Neurotrans-gated_channel_TM. IPR018000. Neurotransmitter_ion_chnl_CS. IPR002394. Nicotinic_acetylcholine_rcpt. [Graphical view]
PANTHER	PTHR18945. PTHR18945. 1 hit.
Pfam	PF02931. Neur_chan_LBD. 1 hit. PF02932. Neur_chan_memb. 1 hit. [Graphical view]
PRINTS	PR00254. NICOTINICR. PR00252. NRIONCHANNEL.
SUPFAM	SSF90112. Neu_channel_TM. 1 hit. SSF63712. Neur_chan_LBD. 1 hit.
TIGRFAMs	TIGR00860. LIC. 1 hit.
PROSITE	PS00236. NEUROTR_ION_CHANNEL. 1 hit. [Graphical view]
ProtoNet	Search...
Other
BindingDB	Q9UGM1.
ChEMBL	CHEMBL2184.
DrugBank	DB00184. Nicotine.
GenomeRNAi	55584.
NextBio	60096.
SOURCE	Search...

Entry information

Entry name

ACHA9_HUMAN

Accession

Primary (citable) accession number: Q9UGM1
Secondary accession number(s): Q14CY7, Q4W5A2, Q9NYV2

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 27, 2001
Last sequence update:	October 5, 2010
Last modified:	May 1, 2013
This is version 113 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.