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O60928 (KCJ13_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 135. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Inward rectifier potassium channel 13
Alternative name(s):
Inward rectifier K(+) channel Kir7.1
Potassium channel, inwardly rectifying subfamily J member 13
Gene names
Name:KCNJ13
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length360 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. KCNJ13 has a very low single channel conductance, low sensitivity to block by external barium and cesium, and no dependence of its inward rectification properties on the internal blocking particle magnesium.

Subcellular location

Membrane; Multi-pass membrane protein.

Tissue specificity

Predominantly expressed in small intestine. Expression is also detected in stomach, kidney, and all central nervous system regions tested with the exception of spinal cord.

Post-translational modification

Phosphorylation at Ser-201 by PKC strongly inhibits ionic currents, while phosphorylation at Ser-287 by PKA increases them.

Involvement in disease

Snowflake vitreoretinal degeneration (SVD) [MIM:193230]: Developmental and progressive hereditary eye disorder that affects multiple tissues within the eye. Diagnostic features of SVD include fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.13

Leber congenital amaurosis 16 (LCA16) [MIM:614186]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.14

Sequence similarities

Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ13 subfamily. [View classification]

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O60928-1)

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.
Isoform 2 (identifier: O60928-2)

Also known as: Kir7.1S;

The sequence of this isoform differs from the canonical sequence as follows:
     76-94: YVLAEMNGDLELDHDAPPE → CFCGEDCPAKKSSFFNSLY
     95-360: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 360360Inward rectifier potassium channel 13
PRO_0000154966

Regions

Topological domain1 – 5353Cytoplasmic By similarity
Transmembrane54 – 7825Helical; Name=M1; By similarity
Topological domain79 – 10527Extracellular By similarity
Intramembrane106 – 11712Helical; Pore-forming; Name=H5; By similarity
Intramembrane118 – 1247Pore-forming; By similarity
Topological domain125 – 1339Extracellular By similarity
Transmembrane134 – 15522Helical; Name=M2; By similarity
Topological domain156 – 360205Cytoplasmic By similarity
Motif119 – 1246Selectivity filter By similarity

Sites

Site1491Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium By similarity

Amino acid modifications

Modified residue2011Phosphoserine; by PKC Ref.12
Modified residue2871Phosphoserine; by PKA Ref.12

Natural variations

Alternative sequence76 – 9419YVLAE…DAPPE → CFCGEDCPAKKSSFFNSLY in isoform 2.
VSP_042627
Alternative sequence95 – 360266Missing in isoform 2.
VSP_042628
Natural variant1171Q → R in LCA16. Ref.14
VAR_066488
Natural variant1621R → Q Found in a patient with autosomal recessive retinitis pigmentosa. Ref.14
VAR_066489
Natural variant1621R → W in SVD; overexpression produces a non-selective cation current that depolarizes transfected cells and increases their fragility. Ref.13
VAR_043509
Natural variant1751T → I. Ref.1 Ref.10
Corresponds to variant rs1801251 [ dbSNP | Ensembl ].
VAR_016193
Natural variant2411L → P in LCA16. Ref.14
VAR_066490
Natural variant2761E → A Found in a patient with autosomal recessive retinitis pigmentosa. Ref.14
VAR_066491
Natural variant2901P → Q. Ref.10
Corresponds to variant rs17853727 [ dbSNP | Ensembl ].
VAR_043510
Natural variant3091G → C. Ref.10
Corresponds to variant rs17857137 [ dbSNP | Ensembl ].
VAR_043511

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified August 1, 1998. Version 1.
Checksum: 0C49D0DBC619BC50

FASTA36040,530
        10         20         30         40         50         60 
MDSSNCKVIA PLLSQRYRRM VTKDGHSTLQ MDGAQRGLAY LRDAWGILMD MRWRWMMLVF 

        70         80         90        100        110        120 
SASFVVHWLV FAVLWYVLAE MNGDLELDHD APPENHTICV KYITSFTAAF SFSLETQLTI 

       130        140        150        160        170        180 
GYGTMFPSGD CPSAIALLAI QMLLGLMLEA FITGAFVAKI ARPKNRAFSI RFTDTAVVAH 

       190        200        210        220        230        240 
MDGKPNLIFQ VANTRPSPLT SVRVSAVLYQ ERENGKLYQT SVDFHLDGIS SDECPFFIFP 

       250        260        270        280        290        300 
LTYYHSITPS SPLATLLQHE NPSHFELVVF LSAMQEGTGE ICQRRTSYLP SEIMLHHCFA 

       310        320        330        340        350        360 
SLLTRGSKGE YQIKMENFDK TVPEFPTPLV SKSPNRTDLD IHINGQSIDN FQISETGLTE 

« Hide

Isoform 2 (Kir7.1S) [UniParc].

Checksum: 6AAE08F28C4307FB
Show »

FASTA9410,980

References

« Hide 'large scale' references
[1]"Cloning and characterization of a novel human inwardly rectifying potassium channel predominantly expressed in small intestine."
Partiseti M., Collura V., Agnel M., Culouscou J.-M., Graham D.
FEBS Lett. 434:171-176(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ILE-175.
Tissue: Brain.
[2]"A novel inward rectifier K+ channel with unique pore properties."
Krapivinsky G., Medina I., Eng L., Krapivinsky L., Yang Y., Clapham D.E.
Neuron 20:995-1005(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Brain.
[3]"Expression of Kir7.1 and a novel Kir7.1 splice variant in native human retinal pigment epithelium."
Yang D., Swaminathan A., Zhang X., Hughes B.A.
Exp. Eye Res. 86:81-91(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), ALTERNATIVE SPLICING.
Tissue: Eye.
[4]Hirose S., Suzuki Y., Nakamura N.
Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Small intestine.
[5]Nakamura N., Matsuki T., Suzuki Y., Sakuta H., Ito T., Hirose S.
Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[6]"Unique epithelial Kir7.1 subunit defines a new subfamily of inwardly rectifying potassium channels."
Doering F., Derst C., Wischmeyer E., Karschin C., Daut J., Karschin A.
Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Testis.
[7]"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. expand/collapse author list , 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: Hippocampus.
[8]"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. expand/collapse author list , 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].
[9]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[10]"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), VARIANTS ILE-175; GLN-290 AND CYS-309.
Tissue: Brain.
[11]"Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (Kir7.1) gene (KCNJ13)."
Derst C., Doring F., Preisig-M ueller R., Daut J., Karschin A., Jeck N., Weber S., Engel H., Grzeschik K.-H.
Genomics 54:560-563(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 147-175.
[12]"Dual regulation of renal Kir7.1 potassium channels by protein Kinase A and protein Kinase C."
Zhang W., Zitron E., Bloehs R., Muller-Krebs S., Scholz E., Zeier M., Katus H., Karle C., Schwenger V.
Biochem. Biophys. Res. Commun. 377:981-986(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION AT SER-201 AND SER-287.
[13]"Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration."
Hejtmancik J.F., Jiao X., Li A., Sergeev Y.V., Ding X., Sharma A.K., Chan C.-C., Medina I., Edwards A.O.
Am. J. Hum. Genet. 82:174-180(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SVD TRP-162, CHARACTERIZATION OF VARIANT SVD TRP-162.
[14]"Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis."
Sergouniotis P.I., Davidson A.E., Mackay D.S., Li Z., Yang X., Plagnol V., Moore A.T., Webster A.R.
Am. J. Hum. Genet. 89:183-190(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LCA16 ARG-117 AND PRO-241, VARIANTS GLN-162 AND ALA-276.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ007557 mRNA. Translation: CAA07552.1.
AF061118 mRNA. Translation: AAC15769.1.
AY758240 mRNA. Translation: AAX08098.1.
AY758241 mRNA. Translation: AAX08099.1.
AB013889 mRNA. Translation: BAA28271.1.
AB013891 mRNA. Translation: BAA28273.1.
AJ006128 mRNA. Translation: CAA06878.1.
AK314019 mRNA. Translation: BAG36730.1.
AC064852 Genomic DNA. Translation: AAX93190.1.
CH471063 Genomic DNA. Translation: EAW71019.1.
BC037290 mRNA. Translation: AAH37290.1.
AF082182 Genomic DNA. Translation: AAD08673.1.
CCDSCCDS2498.1. [O60928-1]
CCDS54437.1. [O60928-2]
RefSeqNP_001165887.1. NM_001172416.1. [O60928-2]
NP_001165888.1. NM_001172417.1.
NP_002233.2. NM_002242.4. [O60928-1]
UniGeneHs.467338.

3D structure databases

ProteinModelPortalO60928.
SMRO60928. Positions 19-326.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000233826.

Chemistry

ChEMBLCHEMBL2146349.
GuidetoPHARMACOLOGY443.

Protein family/group databases

TCDB1.A.2.1.8. inward rectifier k(+) channel (irk-c) family.

PTM databases

PhosphoSiteO60928.

Proteomic databases

PaxDbO60928.
PRIDEO60928.

Protocols and materials databases

DNASU3769.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000233826; ENSP00000233826; ENSG00000115474. [O60928-1]
ENST00000409779; ENSP00000386408; ENSG00000115474. [O60928-2]
ENST00000410029; ENSP00000386251; ENSG00000115474. [O60928-1]
GeneID3769.
KEGGhsa:3769.
UCSCuc002vtn.3. human. [O60928-2]
uc002vto.3. human. [O60928-1]

Organism-specific databases

CTD3769.
GeneCardsGC02M233630.
GeneReviewsKCNJ13.
H-InvDBHIX0002929.
HGNCHGNC:6259. KCNJ13.
HPAHPA051609.
MIM193230. phenotype.
603208. gene.
614186. phenotype.
neXtProtNX_O60928.
Orphanet65. Leber congenital amaurosis.
91496. Snowflake vitreoretinal degeneration.
PharmGKBPA30044.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG280854.
HOGENOMHOG000237326.
HOVERGENHBG006178.
InParanoidO60928.
KOK05006.
OMAASFVVHW.
OrthoDBEOG7NW69K.
PhylomeDBO60928.
TreeFamTF313676.

Gene expression databases

BgeeO60928.
CleanExHS_KCNJ13.
GenevestigatorO60928.

Family and domain databases

Gene3D2.60.40.1400. 1 hit.
InterProIPR014756. Ig_E-set.
IPR016449. K_chnl_inward-rec_Kir.
IPR013518. K_chnl_inward-rec_Kir_cyto.
IPR008062. KCNJ13.
[Graphical view]
PANTHERPTHR11767. PTHR11767. 1 hit.
PTHR11767:SF3. PTHR11767:SF3. 1 hit.
PfamPF01007. IRK. 1 hit.
[Graphical view]
PIRSFPIRSF005465. GIRK_kir. 1 hit.
PRINTSPR01679. KIR7CHANNEL.
PR01320. KIRCHANNEL.
SUPFAMSSF81296. SSF81296. 1 hit.
ProtoNetSearch...

Other

GeneWikiKCNJ13.
GenomeRNAi3769.
NextBio14781.
PROO60928.
SOURCESearch...

Entry information

Entry nameKCJ13_HUMAN
AccessionPrimary (citable) accession number: O60928
Secondary accession number(s): A0PGH1 expand/collapse secondary AC list , O76023, Q53SA1, Q8N3Y4
Entry history
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: August 1, 1998
Last modified: July 9, 2014
This is version 135 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM