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Protein

Gamma-aminobutyric acid receptor subunit alpha-1

Gene

GABRA1

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

Functioni

Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel (By similarity).By similarity

GO - Molecular functioni

  • drug binding Source: BHF-UCL
  • GABA-A receptor activity Source: ProtInc
  • GABA-gated chloride ion channel activity Source: GO_Central

GO - Biological processi

  • cellular response to histamine Source: Ensembl
  • chloride transmembrane transport Source: GO_Central
  • gamma-aminobutyric acid signaling pathway Source: ProtInc
  • ion transmembrane transport Source: Reactome
  • synaptic transmission, GABAergic Source: BHF-UCL
  • transport Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel, Ligand-gated ion channel, Receptor

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Chloride

Enzyme and pathway databases

BioCyciZFISH:ENSG00000022355-MONOMER.
ReactomeiR-HSA-112314. Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell.
R-HSA-975298. Ligand-gated ion channel transport.
R-HSA-977441. GABA A receptor activation.

Protein family/group databases

TCDBi1.A.9.5.4. the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Gamma-aminobutyric acid receptor subunit alpha-1
Alternative name(s):
GABA(A) receptor subunit alpha-1
Gene namesi
Name:GABRA1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:4075. GABRA1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini28 – 251ExtracellularCuratedAdd BLAST224
Transmembranei252 – 273HelicalCuratedAdd BLAST22
Transmembranei279 – 300HelicalCuratedAdd BLAST22
Transmembranei313 – 334HelicalCuratedAdd BLAST22
Topological domaini335 – 421CytoplasmicCuratedAdd BLAST87
Transmembranei422 – 443HelicalCuratedAdd BLAST22

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

Epilepsy, childhood absence 4 (ECA4)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood.
See also OMIM:611136
Epilepsy, idiopathic generalized 13 (EIG13)1 Publication
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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071810219D → 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 PublicationCorresponds to variant rs587777364dbSNPEnsembl.1
Juvenile myoclonic epilepsy 5 (EJM5)1 Publication
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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_013642322A → D in EJM5. 1 PublicationCorresponds to variant rs121434579dbSNPEnsembl.1
Epileptic encephalopathy, early infantile, 19 (EIEE19)1 Publication
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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071809112R → Q in EIEE19. 1 PublicationCorresponds to variant rs587777308dbSNPEnsembl.1
Natural variantiVAR_071811251G → S in EIEE19. 1 PublicationCorresponds to variant rs587777307dbSNPEnsembl.1
Natural variantiVAR_071812306K → T in EIEE19. 1 PublicationCorresponds to variant rs587777309dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi2554.
MalaCardsiGABRA1.
MIMi611136. phenotype.
615744. phenotype.
OpenTargetsiENSG00000022355.
Orphaneti64280. Childhood absence epilepsy.
33069. Dravet syndrome.
307. Juvenile myoclonic epilepsy.
PharmGKBiPA28489.

Chemistry databases

ChEMBLiCHEMBL1962.
DrugBankiDB00659. Acamprosate.
DB00546. Adinazolam.
DB00404. Alprazolam.
DB01351. Amobarbital.
DB00543. Amoxapine.
DB01352. Aprobarbital.
DB01558. Bromazepam.
DB00237. Butabarbital.
DB00241. Butalbital.
DB01353. Butethal.
DB00475. Chlordiazepoxide.
DB01594. Cinolazepam.
DB00349. Clobazam.
DB01068. Clonazepam.
DB00628. Clorazepate.
DB01559. Clotiazepam.
DB01189. Desflurane.
DB00829. Diazepam.
DB00228. Enflurane.
DB01049. Ergoloid mesylate.
DB01215. Estazolam.
DB00402. Eszopiclone.
DB00898. Ethanol.
DB00189. Ethchlorvynol.
DB00292. Etomidate.
DB01567. Fludiazepam.
DB01205. Flumazenil.
DB00690. Flurazepam.
DB01381. Ginkgo biloba.
DB01437. Glutethimide.
DB00801. Halazepam.
DB01159. Halothane.
DB01354. Heptabarbital.
DB01355. Hexobarbital.
DB00753. Isoflurane.
DB01587. Ketazolam.
DB00186. Lorazepam.
DB00371. Meprobamate.
DB00474. Methohexital.
DB01028. Methoxyflurane.
DB00849. Methylphenobarbital.
DB01107. Methyprylon.
DB00683. Midazolam.
DB01595. Nitrazepam.
DB00334. Olanzapine.
DB00842. Oxazepam.
DB00312. Pentobarbital.
DB01174. Phenobarbital.
DB01588. Prazepam.
DB00794. Primidone.
DB00837. Progabide.
DB00818. Propofol.
DB01589. Quazepam.
DB01346. Quinidine barbiturate.
DB00418. Secobarbital.
DB01236. Sevoflurane.
DB00306. Talbutal.
DB00231. Temazepam.
DB01154. Thiamylal.
DB00599. Thiopental.
DB00273. Topiramate.
DB00897. Triazolam.
DB00962. Zaleplon.
DB00425. Zolpidem.
DB01198. Zopiclone.
GuidetoPHARMACOLOGYi404.

Polymorphism and mutation databases

BioMutaiGABRA1.
DMDMi27808653.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 27Sequence analysisAdd BLAST27
ChainiPRO_000000042828 – 456Gamma-aminobutyric acid receptor subunit alpha-1Add BLAST429

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi38N-linked (GlcNAc...)Sequence analysis1
Glycosylationi138N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi166 ↔ 180By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiP14867.
MaxQBiP14867.
PaxDbiP14867.
PeptideAtlasiP14867.
PRIDEiP14867.

PTM databases

iPTMnetiP14867.
PhosphoSitePlusiP14867.

Expressioni

Gene expression databases

BgeeiENSG00000022355.
CleanExiHS_GABRA1.
ExpressionAtlasiP14867. baseline and differential.
GenevisibleiP14867. HS.

Organism-specific databases

HPAiCAB022502.
HPA055746.

Interactioni

Subunit structurei

Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains. Interacts with UBQLN1. Interacts with TRAK1. Interacts with KIF21B.By similarity

Protein-protein interaction databases

BioGridi108828. 8 interactors.
IntActiP14867. 1 interactor.
STRINGi9606.ENSP00000023897.

Chemistry databases

BindingDBiP14867.

Structurei

3D structure databases

ProteinModelPortaliP14867.
SMRiP14867.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3642. Eukaryota.
ENOG410XNQG. LUCA.
GeneTreeiENSGT00760000119010.
HOGENOMiHOG000231337.
HOVERGENiHBG051707.
InParanoidiP14867.
KOiK05175.
OMAiINTIHFL.
OrthoDBiEOG091G0805.
PhylomeDBiP14867.
TreeFamiTF315453.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR006028. GABAA/Glycine_rcpt.
IPR001390. GABAAa_rcpt.
IPR005431. GABBAa1_rcpt.
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
[Graphical view]
PANTHERiPTHR18945. PTHR18945. 1 hit.
PfamiPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSiPR01079. GABAARALPHA.
PR01614. GABAARALPHA1.
PR00253. GABAARECEPTR.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsiTIGR00860. LIC. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

P14867-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:456
Mass (Da):51,802
Last modified:January 17, 2003 - v3
Checksum:iF81EC9ECBE64E94D
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti122W → R in CAA32874 (PubMed:2465923).Curated1
Sequence conflicti128 – 140Missing in CAA31925 (PubMed:2847710).CuratedAdd BLAST13
Sequence conflicti204R → H in CAA31925 (PubMed:2847710).Curated1
Sequence conflicti315W → WDW in CAA31925 (PubMed:2847710).Curated1
Sequence conflicti362 – 365IKKN → FPNS in CAA31925 (PubMed:2847710).Curated4

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071809112R → Q in EIEE19. 1 PublicationCorresponds to variant rs587777308dbSNPEnsembl.1
Natural variantiVAR_071810219D → 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 PublicationCorresponds to variant rs587777364dbSNPEnsembl.1
Natural variantiVAR_071811251G → S in EIEE19. 1 PublicationCorresponds to variant rs587777307dbSNPEnsembl.1
Natural variantiVAR_071812306K → T in EIEE19. 1 PublicationCorresponds to variant rs587777309dbSNPEnsembl.1
Natural variantiVAR_013642322A → D in EJM5. 1 PublicationCorresponds to variant rs121434579dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X14766 mRNA. Translation: CAA32874.1.
CH471062 Genomic DNA. Translation: EAW61538.1.
CH471062 Genomic DNA. Translation: EAW61539.1.
BC030696 mRNA. Translation: AAH30696.1.
X13584 mRNA. Translation: CAA31925.1.
CCDSiCCDS4357.1.
PIRiA31588.
A60652.
RefSeqiNP_000797.2. NM_000806.5.
NP_001121115.1. NM_001127643.1.
NP_001121116.1. NM_001127644.1.
NP_001121117.1. NM_001127645.1.
NP_001121120.1. NM_001127648.1.
UniGeneiHs.175934.

Genome annotation databases

EnsembliENST00000023897; ENSP00000023897; ENSG00000022355.
ENST00000393943; ENSP00000377517; ENSG00000022355.
ENST00000428797; ENSP00000393097; ENSG00000022355.
ENST00000437025; ENSP00000415441; ENSG00000022355.
ENST00000635880; ENSP00000489738; ENSG00000022355.
ENST00000636573; ENSP00000490320; ENSG00000022355.
ENST00000637827; ENSP00000490804; ENSG00000022355.
ENST00000638112; ENSP00000489839; ENSG00000022355.
GeneIDi2554.
KEGGihsa:2554.
UCSCiuc003lyx.5. human.

Cross-referencesi

Web resourcesi

Protein Spotlight

Forbidden fruit - Issue 56 of March 2005

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X14766 mRNA. Translation: CAA32874.1.
CH471062 Genomic DNA. Translation: EAW61538.1.
CH471062 Genomic DNA. Translation: EAW61539.1.
BC030696 mRNA. Translation: AAH30696.1.
X13584 mRNA. Translation: CAA31925.1.
CCDSiCCDS4357.1.
PIRiA31588.
A60652.
RefSeqiNP_000797.2. NM_000806.5.
NP_001121115.1. NM_001127643.1.
NP_001121116.1. NM_001127644.1.
NP_001121117.1. NM_001127645.1.
NP_001121120.1. NM_001127648.1.
UniGeneiHs.175934.

3D structure databases

ProteinModelPortaliP14867.
SMRiP14867.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108828. 8 interactors.
IntActiP14867. 1 interactor.
STRINGi9606.ENSP00000023897.

Chemistry databases

BindingDBiP14867.
ChEMBLiCHEMBL1962.
DrugBankiDB00659. Acamprosate.
DB00546. Adinazolam.
DB00404. Alprazolam.
DB01351. Amobarbital.
DB00543. Amoxapine.
DB01352. Aprobarbital.
DB01558. Bromazepam.
DB00237. Butabarbital.
DB00241. Butalbital.
DB01353. Butethal.
DB00475. Chlordiazepoxide.
DB01594. Cinolazepam.
DB00349. Clobazam.
DB01068. Clonazepam.
DB00628. Clorazepate.
DB01559. Clotiazepam.
DB01189. Desflurane.
DB00829. Diazepam.
DB00228. Enflurane.
DB01049. Ergoloid mesylate.
DB01215. Estazolam.
DB00402. Eszopiclone.
DB00898. Ethanol.
DB00189. Ethchlorvynol.
DB00292. Etomidate.
DB01567. Fludiazepam.
DB01205. Flumazenil.
DB00690. Flurazepam.
DB01381. Ginkgo biloba.
DB01437. Glutethimide.
DB00801. Halazepam.
DB01159. Halothane.
DB01354. Heptabarbital.
DB01355. Hexobarbital.
DB00753. Isoflurane.
DB01587. Ketazolam.
DB00186. Lorazepam.
DB00371. Meprobamate.
DB00474. Methohexital.
DB01028. Methoxyflurane.
DB00849. Methylphenobarbital.
DB01107. Methyprylon.
DB00683. Midazolam.
DB01595. Nitrazepam.
DB00334. Olanzapine.
DB00842. Oxazepam.
DB00312. Pentobarbital.
DB01174. Phenobarbital.
DB01588. Prazepam.
DB00794. Primidone.
DB00837. Progabide.
DB00818. Propofol.
DB01589. Quazepam.
DB01346. Quinidine barbiturate.
DB00418. Secobarbital.
DB01236. Sevoflurane.
DB00306. Talbutal.
DB00231. Temazepam.
DB01154. Thiamylal.
DB00599. Thiopental.
DB00273. Topiramate.
DB00897. Triazolam.
DB00962. Zaleplon.
DB00425. Zolpidem.
DB01198. Zopiclone.
GuidetoPHARMACOLOGYi404.

Protein family/group databases

TCDBi1.A.9.5.4. the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.

PTM databases

iPTMnetiP14867.
PhosphoSitePlusiP14867.

Polymorphism and mutation databases

BioMutaiGABRA1.
DMDMi27808653.

Proteomic databases

EPDiP14867.
MaxQBiP14867.
PaxDbiP14867.
PeptideAtlasiP14867.
PRIDEiP14867.

Protocols and materials databases

DNASUi2554.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000023897; ENSP00000023897; ENSG00000022355.
ENST00000393943; ENSP00000377517; ENSG00000022355.
ENST00000428797; ENSP00000393097; ENSG00000022355.
ENST00000437025; ENSP00000415441; ENSG00000022355.
ENST00000635880; ENSP00000489738; ENSG00000022355.
ENST00000636573; ENSP00000490320; ENSG00000022355.
ENST00000637827; ENSP00000490804; ENSG00000022355.
ENST00000638112; ENSP00000489839; ENSG00000022355.
GeneIDi2554.
KEGGihsa:2554.
UCSCiuc003lyx.5. human.

Organism-specific databases

CTDi2554.
DisGeNETi2554.
GeneCardsiGABRA1.
HGNCiHGNC:4075. GABRA1.
HPAiCAB022502.
HPA055746.
MalaCardsiGABRA1.
MIMi137160. gene.
611136. phenotype.
615744. phenotype.
neXtProtiNX_P14867.
OpenTargetsiENSG00000022355.
Orphaneti64280. Childhood absence epilepsy.
33069. Dravet syndrome.
307. Juvenile myoclonic epilepsy.
PharmGKBiPA28489.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3642. Eukaryota.
ENOG410XNQG. LUCA.
GeneTreeiENSGT00760000119010.
HOGENOMiHOG000231337.
HOVERGENiHBG051707.
InParanoidiP14867.
KOiK05175.
OMAiINTIHFL.
OrthoDBiEOG091G0805.
PhylomeDBiP14867.
TreeFamiTF315453.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000022355-MONOMER.
ReactomeiR-HSA-112314. Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell.
R-HSA-975298. Ligand-gated ion channel transport.
R-HSA-977441. GABA A receptor activation.

Miscellaneous databases

GeneWikiiGamma-aminobutyric_acid_(GABA)_A_receptor,_alpha_1.
Gamma-aminobutyric_acid_receptor_subunit_alpha-1.
GenomeRNAii2554.
PROiP14867.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000022355.
CleanExiHS_GABRA1.
ExpressionAtlasiP14867. baseline and differential.
GenevisibleiP14867. HS.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR006028. GABAA/Glycine_rcpt.
IPR001390. GABAAa_rcpt.
IPR005431. GABBAa1_rcpt.
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
[Graphical view]
PANTHERiPTHR18945. PTHR18945. 1 hit.
PfamiPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSiPR01079. GABAARALPHA.
PR01614. GABAARALPHA1.
PR00253. GABAARECEPTR.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsiTIGR00860. LIC. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGBRA1_HUMAN
AccessioniPrimary (citable) accession number: P14867
Secondary accession number(s): D3DQK6, Q8N629
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: January 17, 2003
Last modified: November 30, 2016
This is version 184 of the entry and version 3 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

Complete proteome, Reference proteome

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

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.