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Protein

Acetylcholine receptor subunit alpha

Gene

CHRNA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.

GO - Molecular functioni

  • acetylcholine-activated cation-selective channel activity Source: MGI
  • acetylcholine binding Source: Ensembl
  • acetylcholine receptor activity Source: ProtInc
  • ion channel activity Source: ProtInc
  • ligand-gated ion channel activity Source: Reactome

GO - Biological processi

  • muscle cell cellular homeostasis Source: BHF-UCL
  • musculoskeletal movement Source: BHF-UCL
  • neuromuscular junction development Source: MGI
  • neuromuscular process Source: BHF-UCL
  • neuromuscular synaptic transmission Source: MGI
  • neuronal action potential Source: BHF-UCL
  • neuron cellular homeostasis Source: BHF-UCL
  • regulation of membrane potential Source: BHF-UCL
  • response to nicotine Source: GO_Central
  • signal transduction Source: ProtInc
  • skeletal muscle contraction Source: BHF-UCL
  • skeletal muscle tissue growth Source: BHF-UCL
  • synaptic transmission, cholinergic Source: GO_Central
  • transport Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Ligand-gated ion channel, Receptor

Keywords - Biological processi

Ion transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000138435-MONOMER.
ReactomeiR-HSA-629594. Highly calcium permeable postsynaptic nicotinic acetylcholine receptors.
R-HSA-629597. Highly calcium permeable nicotinic acetylcholine receptors.
SIGNORiP02708.

Protein family/group databases

TCDBi1.A.9.1.1. the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Acetylcholine receptor subunit alpha
Gene namesi
Name:CHRNA1
Synonyms:ACHRA, CHNRA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:1955. CHRNA1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini21 – 255ExtracellularAdd BLAST235
Transmembranei256 – 280HelicalAdd BLAST25
Transmembranei288 – 306HelicalAdd BLAST19
Transmembranei322 – 341HelicalAdd BLAST20
Topological domaini342 – 453CytoplasmicAdd BLAST112
Transmembranei454 – 472HelicalAdd BLAST19

GO - Cellular componenti

  • acetylcholine-gated channel complex Source: BHF-UCL
  • cell junction Source: UniProtKB-KW
  • cell surface Source: BHF-UCL
  • neuromuscular junction Source: BHF-UCL
  • plasma membrane Source: BHF-UCL
  • postsynaptic membrane Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Involvement in diseasei

Multiple pterygium syndrome, lethal type (LMPS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionMultiple pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia, and flexion contractures causing severe arthrogryposis and fetal akinesia. Subcutaneous edema can be severe, causing fetal hydrops with cystic hygroma and lung hypoplasia. Oligohydramnios and facial anomalies are frequent.
See also OMIM:253290
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043904254R → L in LMPS. 1 PublicationCorresponds to variant rs137852809dbSNPEnsembl.1

The alpha subunit is the main focus for antibody binding in myasthenia gravis. Myasthenia gravis is characterized by sporadic muscular fatigability and weakness, occurring chiefly in muscles innervated by cranial nerves, and characteristically improved by cholinesterase-inhibiting drugs.

Myasthenic syndrome, congenital, 1A, slow-channel (CMS1A)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA common congenital myasthenic syndrome. Congenital myasthenic syndromes are characterized by muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS1A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane.
See also OMIM:601462
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_000282198G → S in CMS1A. 2 PublicationsCorresponds to variant rs137852801dbSNPEnsembl.1
Natural variantiVAR_000283201V → M in CMS1A. 1 PublicationCorresponds to variant rs137852799dbSNPEnsembl.1
Natural variantiVAR_000284262N → K in CMS1A. 1 PublicationCorresponds to variant rs137852798dbSNPEnsembl.1
Natural variantiVAR_021207294V → F in CMS1A; causes increased channel opening in absence of ACh; prolonged opening in presence of ACh; increased affinity for ACh and enhanced desensitization. 1 PublicationCorresponds to variant rs137852803dbSNPEnsembl.1
Natural variantiVAR_000285299T → I in CMS1A. 1 PublicationCorresponds to variant rs137852800dbSNPEnsembl.1
Natural variantiVAR_000286314S → I in CMS1A. 1 PublicationCorresponds to variant rs137852802dbSNPEnsembl.1
Natural variantiVAR_038601463C → W in CMS1A; increases the rate of channel opening and slows the rate of channel closing but has no effect on agonist binding. 1 PublicationCorresponds to variant rs137852808dbSNPEnsembl.1
Myasthenic syndrome, congenital, 1B, fast-channel (CMS1B)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS1B is a fast-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in brief opening and activity of the channel, with a rapid decay in endplate current, failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential.
See also OMIM:608930
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038599177V → L in CMS1B; mutant channel shows an approximately 30-fold decrease of ACh binding affinity for the second of 2 closed-state binding sites but only a 2-fold decrease in gating efficiency. 1 PublicationCorresponds to variant rs137852807dbSNPEnsembl.1
Natural variantiVAR_021206278F → V in CMS1B; markedly reduced protein expression. 1 PublicationCorresponds to variant rs137852805dbSNPEnsembl.1
Natural variantiVAR_021208301F → L in CMS1B; fewer and shorter ion channel activations with decreased channel opening rate and increased channel closing rate. 1 PublicationCorresponds to variant rs137852806dbSNPEnsembl.1
Natural variantiVAR_021209330V → I in CMS1B; abnormally slow channel opening and closing resulting in abnormally brief current. 1 PublicationCorresponds to variant rs137852804dbSNPEnsembl.1

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

DisGeNETi1134.
MalaCardsiCHRNA1.
MIMi253290. phenotype.
254200. phenotype.
601462. phenotype.
608930. phenotype.
OpenTargetsiENSG00000138435.
Orphaneti33108. Lethal multiple pterygium syndrome.
98913. Postsynaptic congenital myasthenic syndromes.
PharmGKBiPA26487.

Chemistry databases

ChEMBLiCHEMBL4808.
DrugBankiDB00674. Galantamine.
GuidetoPHARMACOLOGYi462.

Polymorphism and mutation databases

BioMutaiCHRNA1.
DMDMi113071.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 201 PublicationAdd BLAST20
ChainiPRO_000000030521 – 482Acetylcholine receptor subunit alphaAdd BLAST462

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi173 ↔ 187
Glycosylationi186N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi237 ↔ 238Associated with receptor activation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP02708.
PeptideAtlasiP02708.
PRIDEiP02708.

PTM databases

iPTMnetiP02708.
PhosphoSitePlusiP02708.

Expressioni

Tissue specificityi

Isoform 1 is only expressed in skeletal muscle. Isoform 2 is constitutively expressed in skeletal muscle, brain, heart, kidney, liver, lung and thymus.

Gene expression databases

BgeeiENSG00000138435.
CleanExiHS_CHRNA1.
ExpressionAtlasiP02708. baseline and differential.
GenevisibleiP02708. HS.

Organism-specific databases

HPAiCAB010902.
HPA071554.

Interactioni

Subunit structurei

Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains.

Protein-protein interaction databases

BioGridi107556. 4 interactors.
IntActiP02708. 3 interactors.
STRINGi9606.ENSP00000261007.

Chemistry databases

BindingDBiP02708.

Structurei

Secondary structure

1482
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi23 – 31Combined sources9
Beta strandi106 – 111Combined sources6
Helixi114 – 117Combined sources4
Beta strandi122 – 126Combined sources5

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1Y5Pmodel-B230-235[»]
1Y5Tmodel-B230-235[»]
1Y6Cmodel-B230-235[»]
4ZJSX-ray2.23A/B/C/D/E21-50[»]
A/B/C/D/E106-126[»]
ProteinModelPortaliP02708.
SMRiP02708.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3645. Eukaryota.
ENOG410XQGR. LUCA.
GeneTreeiENSGT00760000118930.
HOGENOMiHOG000006756.
HOVERGENiHBG003756.
InParanoidiP02708.
KOiK04803.
OMAiAMVMDHL.
OrthoDBiEOG091G0R20.
PhylomeDBiP02708.
TreeFamiTF315605.

Family and domain databases

Gene3Di1.20.120.370. 2 hits.
2.70.170.10. 1 hit.
InterProiIPR027361. Acetylcholine_rcpt_TM.
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
IPR002394. Nicotinic_acetylcholine_rcpt.
[Graphical view]
PANTHERiPTHR18945. PTHR18945. 2 hits.
PfamiPF02931. Neur_chan_LBD. 2 hits.
PF02932. Neur_chan_memb. 2 hits.
[Graphical view]
PRINTSiPR00254. NICOTINICR.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 2 hits.
SSF90112. SSF90112. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 2 (identifier: P02708-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEPWPLLLLF SLCSAGLVLG SEHETRLVAK LFKDYSSVVR PVEDHRQVVE
60 70 80 90 100
VTVGLQLIQL INVDEVNQIV TTNVRLKQGD MVDLPRPSCV TLGVPLFSHL
110 120 130 140 150
QNEQWVDYNL KWNPDDYGGV KKIHIPSEKI WRPDLVLYNN ADGDFAIVKF
160 170 180 190 200
TKVLLQYTGH ITWTPPAIFK SYCEIIVTHF PFDEQNCSMK LGTWTYDGSV
210 220 230 240 250
VAINPESDQP DLSNFMESGE WVIKESRGWK HSVTYSCCPD TPYLDITYHF
260 270 280 290 300
VMQRLPLYFI VNVIIPCLLF SFLTGLVFYL PTDSGEKMTL SISVLLSLTV
310 320 330 340 350
FLLVIVELIP STSSAVPLIG KYMLFTMVFV IASIIITVIV INTHHRSPST
360 370 380 390 400
HVMPNWVRKV FIDTIPNIMF FSTMKRPSRE KQDKKIFTED IDISDISGKP
410 420 430 440 450
GPPPMGFHSP LIKHPEVKSA IEGIKYIAET MKSDQESNNA AAEWKYVAMV
460 470 480
MDHILLGVFM LVCIIGTLAV FAGRLIELNQ QG
Length:482
Mass (Da):54,546
Last modified:August 1, 1990 - v2
Checksum:i8B307AD69B91A28B
GO
Isoform 1 (identifier: P02708-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     79-103: Missing.

Show »
Length:457
Mass (Da):51,839
Checksum:i89480567D85C15B8
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti415P → F in AAD14247 (PubMed:7725386).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038599177V → L in CMS1B; mutant channel shows an approximately 30-fold decrease of ACh binding affinity for the second of 2 closed-state binding sites but only a 2-fold decrease in gating efficiency. 1 PublicationCorresponds to variant rs137852807dbSNPEnsembl.1
Natural variantiVAR_000282198G → S in CMS1A. 2 PublicationsCorresponds to variant rs137852801dbSNPEnsembl.1
Natural variantiVAR_000283201V → M in CMS1A. 1 PublicationCorresponds to variant rs137852799dbSNPEnsembl.1
Natural variantiVAR_043904254R → L in LMPS. 1 PublicationCorresponds to variant rs137852809dbSNPEnsembl.1
Natural variantiVAR_000284262N → K in CMS1A. 1 PublicationCorresponds to variant rs137852798dbSNPEnsembl.1
Natural variantiVAR_021206278F → V in CMS1B; markedly reduced protein expression. 1 PublicationCorresponds to variant rs137852805dbSNPEnsembl.1
Natural variantiVAR_021207294V → F in CMS1A; causes increased channel opening in absence of ACh; prolonged opening in presence of ACh; increased affinity for ACh and enhanced desensitization. 1 PublicationCorresponds to variant rs137852803dbSNPEnsembl.1
Natural variantiVAR_000285299T → I in CMS1A. 1 PublicationCorresponds to variant rs137852800dbSNPEnsembl.1
Natural variantiVAR_021208301F → L in CMS1B; fewer and shorter ion channel activations with decreased channel opening rate and increased channel closing rate. 1 PublicationCorresponds to variant rs137852806dbSNPEnsembl.1
Natural variantiVAR_000286314S → I in CMS1A. 1 PublicationCorresponds to variant rs137852802dbSNPEnsembl.1
Natural variantiVAR_021209330V → I in CMS1B; abnormally slow channel opening and closing resulting in abnormally brief current. 1 PublicationCorresponds to variant rs137852804dbSNPEnsembl.1
Natural variantiVAR_038600383D → V.Corresponds to variant rs6739001dbSNPEnsembl.1
Natural variantiVAR_038601463C → W in CMS1A; increases the rate of channel opening and slows the rate of channel closing but has no effect on agonist binding. 1 PublicationCorresponds to variant rs137852808dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00007179 – 103Missing in isoform 1. 2 PublicationsAdd BLAST25

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X02502
, X02503, X02504, X02505, X02506, X02507, X02508 Genomic DNA. Translation: CAA26344.1.
Y00762 mRNA. Translation: CAA68731.1.
X17104 Genomic DNA. Translation: CAA34960.1.
AK299445 mRNA. Translation: BAG61418.1.
CH471058 Genomic DNA. Translation: EAX11125.1.
CH471058 Genomic DNA. Translation: EAX11127.1.
S77094 mRNA. Translation: AAD14247.1.
X70108 Genomic DNA. Translation: CAA49705.1. Sequence problems.
CCDSiCCDS2261.1. [P02708-2]
CCDS33331.1. [P02708-1]
PIRiA03168. ACHUA1.
S10148.
RefSeqiNP_000070.1. NM_000079.3. [P02708-2]
NP_001034612.1. NM_001039523.2. [P02708-1]
UniGeneiHs.434479.

Genome annotation databases

EnsembliENST00000261007; ENSP00000261007; ENSG00000138435. [P02708-1]
ENST00000348749; ENSP00000261008; ENSG00000138435. [P02708-2]
GeneIDi1134.
KEGGihsa:1134.
UCSCiuc002ujd.3. human. [P02708-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X02502
, X02503, X02504, X02505, X02506, X02507, X02508 Genomic DNA. Translation: CAA26344.1.
Y00762 mRNA. Translation: CAA68731.1.
X17104 Genomic DNA. Translation: CAA34960.1.
AK299445 mRNA. Translation: BAG61418.1.
CH471058 Genomic DNA. Translation: EAX11125.1.
CH471058 Genomic DNA. Translation: EAX11127.1.
S77094 mRNA. Translation: AAD14247.1.
X70108 Genomic DNA. Translation: CAA49705.1. Sequence problems.
CCDSiCCDS2261.1. [P02708-2]
CCDS33331.1. [P02708-1]
PIRiA03168. ACHUA1.
S10148.
RefSeqiNP_000070.1. NM_000079.3. [P02708-2]
NP_001034612.1. NM_001039523.2. [P02708-1]
UniGeneiHs.434479.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1Y5Pmodel-B230-235[»]
1Y5Tmodel-B230-235[»]
1Y6Cmodel-B230-235[»]
4ZJSX-ray2.23A/B/C/D/E21-50[»]
A/B/C/D/E106-126[»]
ProteinModelPortaliP02708.
SMRiP02708.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107556. 4 interactors.
IntActiP02708. 3 interactors.
STRINGi9606.ENSP00000261007.

Chemistry databases

BindingDBiP02708.
ChEMBLiCHEMBL4808.
DrugBankiDB00674. Galantamine.
GuidetoPHARMACOLOGYi462.

Protein family/group databases

TCDBi1.A.9.1.1. the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.

PTM databases

iPTMnetiP02708.
PhosphoSitePlusiP02708.

Polymorphism and mutation databases

BioMutaiCHRNA1.
DMDMi113071.

Proteomic databases

PaxDbiP02708.
PeptideAtlasiP02708.
PRIDEiP02708.

Protocols and materials databases

DNASUi1134.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261007; ENSP00000261007; ENSG00000138435. [P02708-1]
ENST00000348749; ENSP00000261008; ENSG00000138435. [P02708-2]
GeneIDi1134.
KEGGihsa:1134.
UCSCiuc002ujd.3. human. [P02708-1]

Organism-specific databases

CTDi1134.
DisGeNETi1134.
GeneCardsiCHRNA1.
GeneReviewsiCHRNA1.
HGNCiHGNC:1955. CHRNA1.
HPAiCAB010902.
HPA071554.
MalaCardsiCHRNA1.
MIMi100690. gene.
253290. phenotype.
254200. phenotype.
601462. phenotype.
608930. phenotype.
neXtProtiNX_P02708.
OpenTargetsiENSG00000138435.
Orphaneti33108. Lethal multiple pterygium syndrome.
98913. Postsynaptic congenital myasthenic syndromes.
PharmGKBiPA26487.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3645. Eukaryota.
ENOG410XQGR. LUCA.
GeneTreeiENSGT00760000118930.
HOGENOMiHOG000006756.
HOVERGENiHBG003756.
InParanoidiP02708.
KOiK04803.
OMAiAMVMDHL.
OrthoDBiEOG091G0R20.
PhylomeDBiP02708.
TreeFamiTF315605.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000138435-MONOMER.
ReactomeiR-HSA-629594. Highly calcium permeable postsynaptic nicotinic acetylcholine receptors.
R-HSA-629597. Highly calcium permeable nicotinic acetylcholine receptors.
SIGNORiP02708.

Miscellaneous databases

GeneWikiiCholinergic_receptor,_nicotinic,_alpha_1.
GenomeRNAii1134.
PROiP02708.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000138435.
CleanExiHS_CHRNA1.
ExpressionAtlasiP02708. baseline and differential.
GenevisibleiP02708. HS.

Family and domain databases

Gene3Di1.20.120.370. 2 hits.
2.70.170.10. 1 hit.
InterProiIPR027361. Acetylcholine_rcpt_TM.
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
IPR002394. Nicotinic_acetylcholine_rcpt.
[Graphical view]
PANTHERiPTHR18945. PTHR18945. 2 hits.
PfamiPF02931. Neur_chan_LBD. 2 hits.
PF02932. Neur_chan_memb. 2 hits.
[Graphical view]
PRINTSiPR00254. NICOTINICR.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 2 hits.
SSF90112. SSF90112. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiACHA_HUMAN
AccessioniPrimary (citable) accession number: P02708
Secondary accession number(s): B4DRV6, D3DPE8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: August 1, 1990
Last modified: November 2, 2016
This is version 190 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.