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P48549

- KCNJ3_HUMAN

UniProt

P48549 - KCNJ3_HUMAN

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Protein

G protein-activated inward rectifier potassium channel 1

Gene

KCNJ3

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

Functioni

This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. This receptor plays a crucial role in regulating the heartbeat.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei173 – 1731Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesiumBy similarity

GO - Molecular functioni

  1. G-protein activated inward rectifier potassium channel activity Source: ProtInc

GO - Biological processi

  1. potassium ion transmembrane transport Source: GOC
  2. potassium ion transport Source: ProtInc
  3. response to electrical stimulus Source: Ensembl
  4. synaptic transmission Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Potassium transport, Transport

Keywords - Ligandi

Potassium

Enzyme and pathway databases

ReactomeiREACT_25004. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits.
REACT_75831. Activation of G protein gated Potassium channels.

Protein family/group databases

TCDBi1.A.2.1.12. inward rectifier k(+) channel (irk-c) family.

Names & Taxonomyi

Protein namesi
Recommended name:
G protein-activated inward rectifier potassium channel 1
Short name:
GIRK-1
Alternative name(s):
Inward rectifier K(+) channel Kir3.1
Potassium channel, inwardly rectifying subfamily J member 3
Gene namesi
Name:KCNJ3
Synonyms:GIRK1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:6264. KCNJ3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 8080CytoplasmicBy similarityAdd
BLAST
Transmembranei81 – 10525Helical; Name=M1By similarityAdd
BLAST
Topological domaini106 – 12924ExtracellularBy similarityAdd
BLAST
Intramembranei130 – 14112Helical; Pore-forming; Name=H5By similarityAdd
BLAST
Intramembranei142 – 1487Pore-formingBy similarity
Topological domaini149 – 1579ExtracellularBy similarity
Transmembranei158 – 17922Helical; Name=M2By similarityAdd
BLAST
Topological domaini180 – 501322CytoplasmicBy similarityAdd
BLAST

GO - Cellular componenti

  1. external side of plasma membrane Source: Ensembl
  2. plasma membrane Source: Reactome
  3. T-tubule Source: Ensembl
  4. voltage-gated potassium channel complex Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA215.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 501501G protein-activated inward rectifier potassium channel 1PRO_0000154938Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi119 – 1191N-linked (GlcNAc...)1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiP48549.
PRIDEiP48549.

PTM databases

PhosphoSiteiP48549.

Expressioni

Gene expression databases

BgeeiP48549.
CleanExiHS_KCNJ3.
ExpressionAtlasiP48549. baseline and differential.
GenevestigatoriP48549.

Organism-specific databases

HPAiHPA024231.

Interactioni

Subunit structurei

Associates with GIRK2, GIRK3 or GIRK4 to form a G-protein activated heteromultimer pore-forming unit. The resulting inward current is much larger (By similarity).By similarity

Protein-protein interaction databases

BioGridi109962. 8 interactions.
STRINGi9606.ENSP00000295101.

Structurei

3D structure databases

ProteinModelPortaliP48549.
SMRiP48549. Positions 41-370.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi143 – 1486Selectivity filterBy similarity

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG280776.
GeneTreeiENSGT00760000118842.
HOGENOMiHOG000237325.
HOVERGENiHBG006178.
InParanoidiP48549.
KOiK04997.
OMAiSMQSEQF.
OrthoDBiEOG7XPZ5K.
PhylomeDBiP48549.
TreeFamiTF313676.

Family and domain databases

Gene3Di2.60.40.1400. 1 hit.
InterProiIPR014756. Ig_E-set.
IPR016449. K_chnl_inward-rec_Kir.
IPR003274. K_chnl_inward-rec_Kir3.1.
IPR013518. K_chnl_inward-rec_Kir_cyto.
[Graphical view]
PANTHERiPTHR11767. PTHR11767. 1 hit.
PfamiPF01007. IRK. 1 hit.
[Graphical view]
PIRSFiPIRSF005465. GIRK_kir. 1 hit.
PRINTSiPR01327. KIR31CHANNEL.
PR01320. KIRCHANNEL.
SUPFAMiSSF81296. SSF81296. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P48549-1) [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
MSALRRKFGD DYQVVTTSSS GSGLQPQGPG QDPQQQLVPK KKRQRFVDKN
60 70 80 90 100
GRCNVQHGNL GSETSRYLSD LFTTLVDLKW RWNLFIFILT YTVAWLFMAS
110 120 130 140 150
MWWVIAYTRG DLNKAHVGNY TPCVANVYNF PSAFLFFIET EATIGYGYRY
160 170 180 190 200
ITDKCPEGII LFLFQSILGS IVDAFLIGCM FIKMSQPKKR AETLMFSEHA
210 220 230 240 250
VISMRDGKLT LMFRVGNLRN SHMVSAQIRC KLLKSRQTPE GEFLPLDQLE
260 270 280 290 300
LDVGFSTGAD QLFLVSPLTI CHVIDAKSPF YDLSQRSMQT EQFEIVVILE
310 320 330 340 350
GIVETTGMTC QARTSYTEDE VLWGHRFFPV ISLEEGFFKV DYSQFHATFE
360 370 380 390 400
VPTPPYSVKE QEEMLLMSSP LIAPAITNSK ERHNSVECLD GLDDITTKLP
410 420 430 440 450
SKLQKITGRE DFPKKLLRMS STTSEKAYSL GDLPMKLQRI SSVPGNSEEK
460 470 480 490 500
LVSKTTKMLS DPMSQSVADL PPKLQKMAGG AARMEGNLPA KLRKMNSDRF

T
Length:501
Mass (Da):56,603
Last modified:February 1, 1996 - v1
Checksum:i825A28ACE2873269
GO
Isoform 2 (identifier: P48549-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     235-235: S → G
     236-501: Missing.

Show »
Length:235
Mass (Da):26,829
Checksum:i3F44F6C322DAC98B
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti271 – 2711C → R in AAH22495. (PubMed:15489334)Curated
Sequence conflicti291 – 2911E → K in AAH22495. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti40 – 401K → R.
Corresponds to variant rs16838016 [ dbSNP | Ensembl ].
VAR_049669

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei235 – 2351S → G in isoform 2. 2 PublicationsVSP_045432
Alternative sequencei236 – 501266Missing in isoform 2. 2 PublicationsVSP_045433Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U39196 mRNA. Translation: AAB53094.1.
U50964 mRNA. Translation: AAB42176.1.
GU074515 mRNA. Translation: ADB11081.1.
AK293824 mRNA. Translation: BAG57228.1.
AC061961 Genomic DNA. No translation available.
AC093633 Genomic DNA. No translation available.
AC107060 Genomic DNA. No translation available.
BC022495 mRNA. Translation: AAH22495.1.
CCDSiCCDS2200.1. [P48549-1]
CCDS58733.1. [P48549-2]
PIRiG02468.
RefSeqiNP_001247437.1. NM_001260508.1. [P48549-2]
NP_001247438.1. NM_001260509.1.
NP_001247439.1. NM_001260510.1.
NP_002230.1. NM_002239.3. [P48549-1]
UniGeneiHs.591606.

Genome annotation databases

EnsembliENST00000295101; ENSP00000295101; ENSG00000162989. [P48549-1]
ENST00000544049; ENSP00000438410; ENSG00000162989. [P48549-2]
GeneIDi3760.
KEGGihsa:3760.
UCSCiuc002tyv.2. human. [P48549-1]
uc010zce.2. human.

Polymorphism databases

DMDMi1352482.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U39196 mRNA. Translation: AAB53094.1 .
U50964 mRNA. Translation: AAB42176.1 .
GU074515 mRNA. Translation: ADB11081.1 .
AK293824 mRNA. Translation: BAG57228.1 .
AC061961 Genomic DNA. No translation available.
AC093633 Genomic DNA. No translation available.
AC107060 Genomic DNA. No translation available.
BC022495 mRNA. Translation: AAH22495.1 .
CCDSi CCDS2200.1. [P48549-1 ]
CCDS58733.1. [P48549-2 ]
PIRi G02468.
RefSeqi NP_001247437.1. NM_001260508.1. [P48549-2 ]
NP_001247438.1. NM_001260509.1.
NP_001247439.1. NM_001260510.1.
NP_002230.1. NM_002239.3. [P48549-1 ]
UniGenei Hs.591606.

3D structure databases

ProteinModelPortali P48549.
SMRi P48549. Positions 41-370.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109962. 8 interactions.
STRINGi 9606.ENSP00000295101.

Chemistry

BindingDBi P48549.
ChEMBLi CHEMBL3038489.
DrugBanki DB01159. Halothane.
GuidetoPHARMACOLOGYi 434.

Protein family/group databases

TCDBi 1.A.2.1.12. inward rectifier k(+) channel (irk-c) family.

PTM databases

PhosphoSitei P48549.

Polymorphism databases

DMDMi 1352482.

Proteomic databases

PaxDbi P48549.
PRIDEi P48549.

Protocols and materials databases

DNASUi 3760.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000295101 ; ENSP00000295101 ; ENSG00000162989 . [P48549-1 ]
ENST00000544049 ; ENSP00000438410 ; ENSG00000162989 . [P48549-2 ]
GeneIDi 3760.
KEGGi hsa:3760.
UCSCi uc002tyv.2. human. [P48549-1 ]
uc010zce.2. human.

Organism-specific databases

CTDi 3760.
GeneCardsi GC02P155555.
HGNCi HGNC:6264. KCNJ3.
HPAi HPA024231.
MIMi 601534. gene.
neXtProti NX_P48549.
PharmGKBi PA215.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG280776.
GeneTreei ENSGT00760000118842.
HOGENOMi HOG000237325.
HOVERGENi HBG006178.
InParanoidi P48549.
KOi K04997.
OMAi SMQSEQF.
OrthoDBi EOG7XPZ5K.
PhylomeDBi P48549.
TreeFami TF313676.

Enzyme and pathway databases

Reactomei REACT_25004. Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits.
REACT_75831. Activation of G protein gated Potassium channels.

Miscellaneous databases

ChiTaRSi KCNJ3. human.
GeneWikii KCNJ3.
GenomeRNAii 3760.
NextBioi 14741.
PROi P48549.
SOURCEi Search...

Gene expression databases

Bgeei P48549.
CleanExi HS_KCNJ3.
ExpressionAtlasi P48549. baseline and differential.
Genevestigatori P48549.

Family and domain databases

Gene3Di 2.60.40.1400. 1 hit.
InterProi IPR014756. Ig_E-set.
IPR016449. K_chnl_inward-rec_Kir.
IPR003274. K_chnl_inward-rec_Kir3.1.
IPR013518. K_chnl_inward-rec_Kir_cyto.
[Graphical view ]
PANTHERi PTHR11767. PTHR11767. 1 hit.
Pfami PF01007. IRK. 1 hit.
[Graphical view ]
PIRSFi PIRSF005465. GIRK_kir. 1 hit.
PRINTSi PR01327. KIR31CHANNEL.
PR01320. KIRCHANNEL.
SUPFAMi SSF81296. SSF81296. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A recombinant inwardly rectifying potassium channel coupled to GTP-binding proteins."
    Chan K.W., Langan M.N., Sui J., Kozak A., Pabon A., Ladias J.A.A., Logothetis D.E.
    J. Gen. Physiol. 107:381-397(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Brain.
  2. "Cloning of a G protein-activated inwardly rectifying potassium channel from human cerebellum."
    Schoots O., Yue K.T., Macdonald J.F., Hampson D.R., Nobrega J.N., Dixon L.M., van Tol H.H.M.
    Brain Res. Mol. Brain Res. 39:23-30(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  3. "Splice variant hGIRK1d from human breast cancer cells."
    Wagner V., Gorischek A., Bauernhofer T., Schreibmayer W.
    Submitted (OCT-2009) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Cerebellum.
  5. "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].
  6. "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] (ISOFORM 1).
    Tissue: Brain.
  7. "Glycosylation of GIRK1 at Asn119 and ROMK1 at Asn117 has different consequences in potassium channel function."
    Pabon A., Chan K.W., Sui J.L., Wu X., Logothetis D.E., Thornhill W.B.
    J. Biol. Chem. 275:30677-30682(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION AT ASN-119.

Entry informationi

Entry nameiKCNJ3_HUMAN
AccessioniPrimary (citable) accession number: P48549
Secondary accession number(s): B4DEW7, Q8TBI0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: November 26, 2014
This is version 135 of the entry and version 1 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 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3