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Protein

Calcium-activated potassium channel subunit alpha-1

Gene

KCNMA1

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

Functioni

Potassium channel activated by both membrane depolarization or increase in cytosolic Ca2+ that mediates export of K+. It is also activated by the concentration of cytosolic Mg2+. Its activation dampens the excitatory events that elevate the cytosolic Ca2+ concentration and/or depolarize the cell membrane. It therefore contributes to repolarization of the membrane potential. Plays a key role in controlling excitability in a number of systems, such as regulation of the contraction of smooth muscle, the tuning of hair cells in the cochlea, regulation of transmitter release, and innate immunity. In smooth muscles, its activation by high level of Ca2+, caused by ryanodine receptors in the sarcoplasmic reticulum, regulates the membrane potential. In cochlea cells, its number and kinetic properties partly determine the characteristic frequency of each hair cell and thereby helps to establish a tonotopic map. Kinetics of KCNMA1 channels are determined by alternative splicing, phosphorylation status and its combination with modulating beta subunits. Highly sensitive to both iberiotoxin (IbTx) and charybdotoxin (CTX).

Miscellaneous

The protein was initially thought to contain two functionally distinct parts: The core channel (from the N-terminus to the S9 segment) that mediates the channel activity, and the cytoplasmic tail (from the S9 segment to the C-terminus) that mediates the calcium sensing. The situation is however more complex, since the core channel also contains binding sites for Ca2+ and Mg2+.

Activity regulationi

Ethanol and carbon monoxide-bound heme increase channel activation. Heme inhibits channel activation.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi439MagnesiumBy similarity1
Metal bindingi462MagnesiumBy similarity1
Metal bindingi464MagnesiumBy similarity1
Metal bindingi1012Calcium; via carbonyl oxygen1
Metal bindingi1015Calcium; via carbonyl oxygen1
Metal bindingi1018Calcium1
Metal bindingi1020Calcium1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionIon channel, Potassium channel, Voltage-gated channel
Biological processIon transport, Potassium transport, Transport
LigandCalcium, Magnesium, Metal-binding, Potassium

Enzyme and pathway databases

ReactomeiR-HSA-1296052 Ca2+ activated K+ channels
R-HSA-418457 cGMP effects
SIGNORiQ12791

Names & Taxonomyi

Protein namesi
Recommended name:
Calcium-activated potassium channel subunit alpha-1
Alternative name(s):
BK channel
BKCA alpha
Calcium-activated potassium channel, subfamily M subunit alpha-1
K(VCA)alpha
KCa1.1
Maxi K channel
Short name:
MaxiK
Slo-alpha
Slo1
Slowpoke homolog
Short name:
Slo homolog
Short name:
hSlo
Gene namesi
Name:KCNMA1
Synonyms:KCNMA, SLO
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000156113.20
HGNCiHGNC:6284 KCNMA1
MIMi600150 gene
neXtProtiNX_Q12791

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 86ExtracellularSequence analysisAdd BLAST86
Transmembranei87 – 107Helical; Name=Segment S0Sequence analysisAdd BLAST21
Topological domaini108 – 178CytoplasmicSequence analysisAdd BLAST71
Transmembranei179 – 199Helical; Name=Segment S1Sequence analysisAdd BLAST21
Topological domaini200 – 214ExtracellularSequence analysisAdd BLAST15
Transmembranei215 – 235Helical; Name=Segment S2Sequence analysisAdd BLAST21
Topological domaini236 – 239CytoplasmicSequence analysis4
Transmembranei240 – 260Helical; Name=Segment S3Sequence analysisAdd BLAST21
Topological domaini261 – 264ExtracellularSequence analysis4
Transmembranei265 – 285Helical; Name=Segment S4Sequence analysisAdd BLAST21
Topological domaini286 – 300CytoplasmicSequence analysisAdd BLAST15
Transmembranei301 – 321Helical; Name=Segment S5Sequence analysisAdd BLAST21
Topological domaini322 – 335ExtracellularSequence analysisAdd BLAST14
Intramembranei336 – 358Pore-forming; Name=P regionSequence analysisAdd BLAST23
Topological domaini359 – 367ExtracellularSequence analysis9
Transmembranei368 – 388Helical; Name=Segment S6Sequence analysisAdd BLAST21
Topological domaini389 – 1236CytoplasmicSequence analysisAdd BLAST848

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy (PNKD3)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant neurologic disorder characterized by absence seizures, generalized tonic-clonic seizures, paroxysmal nonkinesigenic dyskinesia and involuntary dystonic or choreiform movements. Onset is usually in childhood. Patients may have seizures only, dyskinesia only, or both.
See also OMIM:609446
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023821434D → G in PNKD3; may have a synergistic effect with ethanol in the triggering of symptoms. 1 PublicationCorresponds to variant dbSNP:rs137853333EnsemblClinVar.1
Natural variantiVAR_079156884E → K in PNKD3. 1 Publication1
Natural variantiVAR_0791571053N → S in PNKD3. 1 PublicationCorresponds to variant dbSNP:rs886039469Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi118C → A: Decreased localization to the plasma membrane. Abolishes localization to the plasma membrane; when associated with A-119 and A-121. 2 Publications1
Mutagenesisi119C → A: Decreased localization to the plasma membrane. Abolishes localization to the plasma membrane; when associated with A-118 and A-121. 2 Publications1
Mutagenesisi121C → A: Decreased localization to the plasma membrane. Abolishes localization to the plasma membrane; when associated with A-119 and A-121. 2 Publications1
Mutagenesisi269L → R or H: No effect in the coupling between calcium and channel opening. 1 Publication1
Mutagenesisi272R → E: Induces reduction in the coupling between calcium and channel opening. 1 Publication1
Mutagenesisi275R → N: Induces reduction in the coupling between calcium and channel opening. 1 Publication1
Mutagenesisi278R → Q: Induces reduction in the coupling between calcium and channel opening. 1 Publication1
Mutagenesisi281Q → R: No effect in the coupling between calcium and channel opening. 1 Publication1
Mutagenesisi284E → K: No effect in the coupling between calcium and channel opening. 1 Publication1
Mutagenesisi352T → S: Activated at more negative voltages. Slower rate of inactivation. Impaired inhibition by HMIMP. No effect on channel inhibition by Iberiotoxin. 1 Publication1
Mutagenesisi354 – 356GYG → AAA: Loss of function. 1 Publication3
Mutagenesisi380F → A: Loss of function. 1 Publication1
Mutagenesisi381A → S: Activated at more negative voltages. No effect on inhibition by HMIMP. 1 Publication1
Mutagenesisi384V → I: No effect on activation voltage. No effect on inhibition by HMIMP. 1 Publication1
Mutagenesisi680C → S: Loss of heme-induced channel inhibition. 1 Publication1
Mutagenesisi681H → R: Loss of heme-induced channel inhibition. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi3778
MalaCardsiKCNMA1
MIMi609446 phenotype
OpenTargetsiENSG00000156113
Orphaneti79137 Generalized epilepsy - paroxysmal dyskinesia
PharmGKBiPA220

Chemistry databases

ChEMBLiCHEMBL4304
DrugBankiDB00436 Bendroflumethiazide
DB00356 Chlorzoxazone
DB01003 Cromoglicic acid
DB01119 Diazoxide
DB01159 Halothane
DB00999 Hydrochlorothiazide
DB00774 Hydroflumethiazide
DB01110 Miconazole
DB00721 Procaine
GuidetoPHARMACOLOGYi380

Polymorphism and mutation databases

BioMutaiKCNMA1
DMDMi46396283

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000541321 – 1236Calcium-activated potassium channel subunit alpha-1Add BLAST1236

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi118S-palmitoyl cysteine2 Publications1
Lipidationi119S-palmitoyl cysteine2 Publications1
Lipidationi121S-palmitoyl cysteine2 Publications1
Modified residuei763PhosphothreonineBy similarity1
Modified residuei765PhosphoserineBy similarity1
Modified residuei778PhosphoserineBy similarity1
Modified residuei782PhosphoserineBy similarity1
Modified residuei970PhosphothreonineBy similarity1
Modified residuei978PhosphoserineBy similarity1
Modified residuei982PhosphoserineBy similarity1
Modified residuei1221PhosphoserineBy similarity1
Modified residuei1224PhosphoserineBy similarity1

Post-translational modificationi

Phosphorylated (Probable). Phosphorylation by kinases such as PKA and/or PKG. In smooth muscles, phosphorylation affects its activity.Curated
Palmitoylation by ZDHHC22 and ZDHHC23 within the intracellular linker between the S0 and S1 transmembrane domains regulates localization to the plasma membrane. Depalmitoylated by LYPLA1 and LYPLAL1, leading to retard exit from the trans-Golgi network.2 Publications

Keywords - PTMi

Lipoprotein, Palmitate, Phosphoprotein

Proteomic databases

MaxQBiQ12791
PeptideAtlasiQ12791
PRIDEiQ12791
ProteomicsDBi58926
58927 [Q12791-2]
58928 [Q12791-3]
58929 [Q12791-4]
58930 [Q12791-5]
58931 [Q12791-6]
58932 [Q12791-7]

PTM databases

iPTMnetiQ12791
PhosphoSitePlusiQ12791
SwissPalmiQ12791

Expressioni

Tissue specificityi

Widely expressed. Except in myocytes, it is almost ubiquitously expressed.1 Publication

Gene expression databases

BgeeiENSG00000156113 Expressed in 215 organ(s), highest expression level in parotid gland
ExpressionAtlasiQ12791 baseline and differential
GenevisibleiQ12791 HS

Organism-specific databases

HPAiHPA054648

Interactioni

Subunit structurei

Homotetramer; which constitutes the calcium-activated potassium channel. Interacts with RAB11B (By similarity). Interacts with beta subunits KCNMB1, KCNMB2, KCNMB3 and KCNMB4. Interacts with gamma subunits LRRC26, LRRC38, LRRC52 and LRRC55. Beta and gamma subunits are accessory, and modulate its activity.By similarity6 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi109979, 12 interactors
CORUMiQ12791
DIPiDIP-29729N
IntActiQ12791, 5 interactors
MINTiQ12791

Chemistry databases

BindingDBiQ12791

Structurei

Secondary structure

11236
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ12791
SMRiQ12791
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ12791

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini415 – 558RCK N-terminalAdd BLAST144

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni556 – 576Segment S7Add BLAST21
Regioni613 – 633Segment S8Add BLAST21
Regioni677 – 681Heme-binding motif5
Regioni837 – 857Segment S9Add BLAST21
Regioni1032 – 1052Segment S10Add BLAST21

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi352 – 355Selectivity for potassium4
Motifi1003 – 1025Calcium bowlAdd BLAST23

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi4 – 10Poly-Gly7
Compositional biasi13 – 20Poly-Gly8
Compositional biasi39 – 60Poly-SerAdd BLAST22

Domaini

The S0 segment is essential for the modulation by the accessory beta subunits KCNMB1, KCNMB2, KCNMB3 and KCNMB4.
The S4 segment, which is characterized by a series of positively charged amino acids at every third position, is part of the voltage-sensor.
The pore-forming domain (also referred as P region) is imbedded into the membrane, and forms the selectivity filter of the pore. It contains the signature sequence of potassium channels that displays selectivity to potassium.
The RCK N-terminal domain mediates the homotetramerization, thereby promoting the assembly of monomers into functional potassium channel. It includes binding sites for Ca2+ and Mg2+ (By similarity).By similarity
The calcium bowl constitutes one of the Ca2+ sensors and probably acts as a Ca2+-binding site. There are however other Ca2+ sensors regions required for activation of the channel.
The heme-binding motif mediates inhibition of channel activation by heme. Carbon monoxide-bound heme leads to increased channel activation.

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

GeneTreeiENSGT00530000063026
HOVERGENiHBG052222
InParanoidiQ12791
KOiK04936
PhylomeDBiQ12791
TreeFamiTF314283

Family and domain databases

Gene3Di1.20.120.350, 1 hit
InterProiView protein in InterPro
IPR024939 Ca-act_K_channel_Slo-1
IPR005821 Ion_trans_dom
IPR003929 K_chnl_BK_asu
IPR036291 NAD(P)-bd_dom_sf
IPR028325 VG_K_chnl
IPR027359 Volt_channel_dom_sf
PANTHERiPTHR10027:SF28 PTHR10027:SF28, 1 hit
PfamiView protein in Pfam
PF03493 BK_channel_a, 1 hit
PF00520 Ion_trans, 1 hit
PRINTSiPR00169 KCHANNEL
SUPFAMiSSF51735 SSF51735, 1 hit

Sequences (7+)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket
Note: May be partially controlled by hormonal stress. Additional isoforms seem to exist.

This entry has 7 described isoforms and 69 potential isoforms that are computationally mapped.iShow all

Isoform 1 (identifier: Q12791-1) [UniParc]FASTAAdd to basket
Also known as: SAKCA

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
MANGGGGGGG SSGGGGGGGG SSLRMSSNIH ANHLSLDASS SSSSSSSSSS
60 70 80 90 100
SSSSSSSSSS VHEPKMDALI IPVTMEVPCD SRGQRMWWAF LASSMVTFFG
110 120 130 140 150
GLFIILLWRT LKYLWTVCCH CGGKTKEAQK INNGSSQADG TLKPVDEKEE
160 170 180 190 200
AVAAEVGWMT SVKDWAGVMI SAQTLTGRVL VVLVFALSIG ALVIYFIDSS
210 220 230 240 250
NPIESCQNFY KDFTLQIDMA FNVFFLLYFG LRFIAANDKL WFWLEVNSVV
260 270 280 290 300
DFFTVPPVFV SVYLNRSWLG LRFLRALRLI QFSEILQFLN ILKTSNSIKL
310 320 330 340 350
VNLLSIFIST WLTAAGFIHL VENSGDPWEN FQNNQALTYW ECVYLLMVTM
360 370 380 390 400
STVGYGDVYA KTTLGRLFMV FFILGGLAMF ASYVPEIIEL IGNRKKYGGS
410 420 430 440 450
YSAVSGRKHI VVCGHITLES VSNFLKDFLH KDRDDVNVEI VFLHNISPNL
460 470 480 490 500
ELEALFKRHF TQVEFYQGSV LNPHDLARVK IESADACLIL ANKYCADPDA
510 520 530 540 550
EDASNIMRVI SIKNYHPKIR IITQMLQYHN KAHLLNIPSW NWKEGDDAIC
560 570 580 590 600
LAELKLGFIA QSCLAQGLST MLANLFSMRS FIKIEEDTWQ KYYLEGVSNE
610 620 630 640 650
MYTEYLSSAF VGLSFPTVCE LCFVKLKLLM IAIEYKSANR ESRILINPGN
660 670 680 690 700
HLKIQEGTLG FFIASDAKEV KRAFFYCKAC HDDITDPKRI KKCGCKRPKM
710 720 730 740 750
SIYKRMRRAC CFDCGRSERD CSCMSGRVRG NVDTLERAFP LSSVSVNDCS
760 770 780 790 800
TSFRAFEDEQ PSTLSPKKKQ RNGGMRNSPN TSPKLMRHDP LLIPGNDQID
810 820 830 840 850
NMDSNVKKYD STGMFHWCAP KEIEKVILTR SEAAMTVLSG HVVVCIFGDV
860 870 880 890 900
SSALIGLRNL VMPLRASNFH YHELKHIVFV GSIEYLKREW ETLHNFPKVS
910 920 930 940 950
ILPGTPLSRA DLRAVNINLC DMCVILSANQ NNIDDTSLQD KECILASLNI
960 970 980 990 1000
KSMQFDDSIG VLQANSQGFT PPGMDRSSPD NSPVHGMLRQ PSITTGVNIP
1010 1020 1030 1040 1050
IITELVNDTN VQFLDQDDDD DPDTELYLTQ PFACGTAFAV SVLDSLMSAT
1060 1070 1080 1090 1100
YFNDNILTLI RTLVTGGATP ELEALIAEEN ALRGGYSTPQ TLANRDRCRV
1110 1120 1130 1140 1150
AQLALLDGPF ADLGDGGCYG DLFCKALKTY NMLCFGIYRL RDAHLSTPSQ
1160 1170 1180 1190 1200
CTKRYVITNP PYEFELVPTD LIFCLMQFDH NAGQSRASLS HSSHSSQSSS
1210 1220 1230
KKSSSVHSIP STANRQNRPK SRESRDKQKY VQEERL
Length:1,236
Mass (Da):137,560
Last modified:April 13, 2004 - v2
Checksum:iDF9BFEAF374BE553
GO
Isoform 2 (identifier: Q12791-2) [UniParc]FASTAAdd to basket
Also known as: BKTM

The sequence of this isoform differs from the canonical sequence as follows:
     698-756: PKMSIYKRMRRACCFDCGRSERDCSCMSGRVRGNVDTLERAFPLSSVSVNDCSTSFRAF → L
     828-828: L → LVTGWMPYLGPRVLMTCLDIGVVCMPTDIQSTSPASIKKFKE

Show »
Length:1,219
Mass (Da):135,495
Checksum:i932986BE30E0D409
GO
Isoform 3 (identifier: Q12791-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     643-643: R → RSRKR

Show »
Length:1,240
Mass (Da):138,087
Checksum:i83DA8EC8C379A3D9
GO
Isoform 4 (identifier: Q12791-4) [UniParc]FASTAAdd to basket
Also known as: hbr5

The sequence of this isoform differs from the canonical sequence as follows:
     698-756: PKMSIYKRMR...NDCSTSFRAF → LKVAARSRYSKDPFEFKKETPNSRLVTEPV

Show »
Length:1,207
Mass (Da):134,362
Checksum:i7B9C03A8BFA5055B
GO
Isoform 5 (identifier: Q12791-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     698-756: PKMSIYKRMRRACCFDCGRSERDCSCMSGRVRGNVDTLERAFPLSSVSVNDCSTSFRAF → L

Show »
Length:1,178
Mass (Da):130,999
Checksum:iAD3C9634F8A21EEC
GO
Isoform 6 (identifier: Q12791-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     127-168: EAQKINNGSS...MTSVKDWAGV → ATHFGSPEMP...ALEVARCRRL
     169-1236: Missing.

Note: No experimental confirmation available.
Show »
Length:168
Mass (Da):17,191
Checksum:i101980B6E7017A03
GO
Isoform 7 (identifier: Q12791-7) [UniParc]FASTAAdd to basket
Also known as: gBK

The sequence of this isoform differs from the canonical sequence as follows:
     698-756: PKMSIYKRMR...NDCSTSFRAF → RWEEHCSLWR...PNSRLVTEPV

Show »
Length:1,239
Mass (Da):138,297
Checksum:iCE8B6449D8C7B9CC
GO

Computationally mapped potential isoform sequencesi

There are 69 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1W2PRT6A0A1W2PRT6_HUMAN
Calcium-activated potassium channel...
KCNMA1
383Annotation score:
Q5SVJ8Q5SVJ8_HUMAN
Calcium-activated potassium channel...
KCNMA1
1,288Annotation score:
B7ZMF5B7ZMF5_HUMAN
Calcium-activated potassium channel...
KCNMA1
1,208Annotation score:
D5MRH1D5MRH1_HUMAN
Calcium-activated potassium channel...
KCNMA1
1,128Annotation score:
Q5SVK0Q5SVK0_HUMAN
Calcium-activated potassium channel...
KCNMA1
1,195Annotation score:
Q5SVK5Q5SVK5_HUMAN
Calcium-activated potassium channel...
KCNMA1
1,232Annotation score:
H0Y379H0Y379_HUMAN
Calcium-activated potassium channel...
KCNMA1
1,192Annotation score:
Q5SVJ9Q5SVJ9_HUMAN
Calcium-activated potassium channel...
KCNMA1
1,235Annotation score:
H0Y5Z6H0Y5Z6_HUMAN
Calcium-activated potassium channel...
KCNMA1 hCG_25279
1,207Annotation score:
J3KQ16J3KQ16_HUMAN
Calcium-activated potassium channel...
KCNMA1
1,040Annotation score:
There are more potential isoformsShow all

Sequence cautioni

The sequence AAA50216 differs from that shown. Contaminating sequence. Sequence of unknown origin in the N-terminal part.Curated
The sequence AAB65837 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAC50353 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAK91504 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAD06365 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti25M → N in AAA50216 (PubMed:7987297).Curated1
Sequence conflicti35S → G in AAA50216 (PubMed:7987297).Curated1
Sequence conflicti38A → V in AAA85104 (PubMed:7877450).Curated1
Sequence conflicti449N → D in AAD31173 (Ref. 12) Curated1
Sequence conflicti805N → H in AAC50353 (PubMed:7993625).Curated1
Sequence conflicti1152T → A in AAD31173 (Ref. 12) Curated1
Sequence conflicti1230 – 1236YVQEERL → KEMVYR in CAI39730 (PubMed:15164054).Curated7
Sequence conflicti1230 – 1236YVQEERL → KEMVYR in CAI40870 (PubMed:15164054).Curated7
Sequence conflicti1230 – 1236YVQEERL → KEMVYR in CAI14074 (PubMed:15164054).Curated7
Sequence conflicti1230 – 1236YVQEERL → KEMVYR in CAI16162 (PubMed:15164054).Curated7
Isoform 7 (identifier: Q12791-7)
Sequence conflicti726 – 727FS → SF no nucleotide entry (PubMed:11880513).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023821434D → G in PNKD3; may have a synergistic effect with ethanol in the triggering of symptoms. 1 PublicationCorresponds to variant dbSNP:rs137853333EnsemblClinVar.1
Natural variantiVAR_079156884E → K in PNKD3. 1 Publication1
Natural variantiVAR_0791571053N → S in PNKD3. 1 PublicationCorresponds to variant dbSNP:rs886039469Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_009952127 – 168EAQKI…DWAGV → ATHFGSPEMPPAARSWSGSP PEAAVLRGASSLALEVARCR RL in isoform 6. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_009953169 – 1236Missing in isoform 6. 1 PublicationAdd BLAST1068
Alternative sequenceiVSP_009954643R → RSRKR in isoform 3. 1 Publication1
Alternative sequenceiVSP_009955698 – 756PKMSI…SFRAF → L in isoform 2 and isoform 5. 9 PublicationsAdd BLAST59
Alternative sequenceiVSP_009956698 – 756PKMSI…SFRAF → LKVAARSRYSKDPFEFKKET PNSRLVTEPV in isoform 4. 2 PublicationsAdd BLAST59
Alternative sequenceiVSP_009957698 – 756PKMSI…SFRAF → RWEEHCSLWRLESKGNVRRL NYCRGQQTFSVKVKVAARSR YSKDPFEFKKETPNSRLVTE PV in isoform 7. CuratedAdd BLAST59
Alternative sequenceiVSP_009958828L → LVTGWMPYLGPRVLMTCLDI GVVCMPTDIQSTSPASIKKF KE in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U13913 mRNA Translation: AAA85104.1
U23767 mRNA Translation: AAA92290.1
AL157833
, AL731560, AL731556, AL627447, AC021032, AC011439 Genomic DNA Translation: CAI39730.1
AL157833
, AC011439, AC021032, AL627447, AL731556, AL731560 Genomic DNA Translation: CAI39736.1
AL627447
, AL731560, AL731556, AC021032, AC011439, AL157833 Genomic DNA Translation: CAI16162.1
AL627447
, AC011439, AC021032, AL157833, AL731556, AL731560 Genomic DNA Translation: CAI16171.1
AL731556
, AC011439, AL157833, AC021032, AL731560, AL627447 Genomic DNA Translation: CAI14074.1
AL731556
, AC011439, AC021032, AL157833, AL627447, AL731560 Genomic DNA Translation: CAI14082.1
AL731560
, AL157833, AL731556, AC021032, AC011439, AL627447 Genomic DNA Translation: CAI40870.1
AL731560
, AC011439, AC021032, AL157833, AL627447, AL731556 Genomic DNA Translation: CAI40877.1
AC067745 Genomic DNA No translation available.
AL607069 Genomic DNA No translation available.
AL731575 Genomic DNA No translation available.
CH471083 Genomic DNA Translation: EAW54599.1
BC062659 mRNA Translation: AAH62659.1
BC137115 mRNA Translation: AAI37116.1
BC137137 mRNA Translation: AAI37138.1
U11717 mRNA Translation: AAC50353.1 Different initiation.
AY040849 mRNA Translation: AAK91504.1 Different initiation.
AB113575 mRNA Translation: BAD06397.1
AB113382 mRNA Translation: BAD06365.1 Different initiation.
U02632 mRNA Translation: AAA50173.1
U09384 mRNA Translation: AAA50216.1 Sequence problems.
AF025999 mRNA Translation: AAB88802.1
U11058 mRNA Translation: AAB65837.1 Different initiation.
AF118141 mRNA Translation: AAD31173.1
CCDSiCCDS53545.1 [Q12791-2]
CCDS60569.1 [Q12791-1]
CCDS60571.1 [Q12791-6]
CCDS7352.1 [Q12791-5]
PIRiI38596
S62904
RefSeqiNP_001014797.1, NM_001014797.2
NP_001154824.1, NM_001161352.1 [Q12791-1]
NP_001154825.1, NM_001161353.1 [Q12791-2]
NP_001258447.1, NM_001271518.1
NP_001258451.1, NM_001271522.1 [Q12791-6]
NP_002238.2, NM_002247.3 [Q12791-5]
UniGeneiHs.144795
Hs.658064

Genome annotation databases

EnsembliENST00000286627; ENSP00000286627; ENSG00000156113 [Q12791-5]
ENST00000286628; ENSP00000286628; ENSG00000156113 [Q12791-1]
ENST00000434208; ENSP00000402150; ENSG00000156113 [Q12791-4]
ENST00000480683; ENSP00000474686; ENSG00000156113 [Q12791-6]
ENST00000626620; ENSP00000485867; ENSG00000156113 [Q12791-2]
ENST00000638575; ENSP00000492049; ENSG00000156113 [Q12791-7]
ENST00000638759; ENSP00000492632; ENSG00000156113 [Q12791-3]
ENST00000640969; ENSP00000492200; ENSG00000156113 [Q12791-4]
GeneIDi3778
KEGGihsa:3778
UCSCiuc001jxm.4 human [Q12791-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiKCMA1_HUMAN
AccessioniPrimary (citable) accession number: Q12791
Secondary accession number(s): F8WA96
, Q12886, Q12917, Q12921, Q12960, Q13150, Q5JQ23, Q5SQR9, Q96LG8, Q9UBB0, Q9UCX0, Q9UQK6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: April 13, 2004
Last modified: September 12, 2018
This is version 183 of the entry and version 2 of the sequence. See 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, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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