LOCUS NP_001278552 418 aa linear PRI 20-SEP-2023
DEFINITION inward rectifier potassium channel 16 isoform b [Homo sapiens].
ACCESSION NP_001278552 XP_005257392
VERSION NP_001278552.2
DBSOURCE REFSEQ: accession NM_001291623.2
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 418)
AUTHORS Guo Y, Gao Y and Liu S.
TITLE lncRNA XIST is associated with preeclampsia and mediates
trophoblast cell invasion via miR-340-5p/KCNJ16 signaling pathway
JOURNAL Transpl Immunol 74, 101666 (2022)
PUBMED 35809813
REMARK GeneRIF: lncRNA XIST is associated with preeclampsia and mediates
trophoblast cell invasion via miR-340-5p/KCNJ16 signaling pathway.
REFERENCE 2 (residues 1 to 418)
AUTHORS Staruschenko A, Hodges MR and Palygin O.
TITLE Kir5.1 channels: potential role in epilepsy and seizure disorders
JOURNAL Am J Physiol Cell Physiol 323 (3), C706-C717 (2022)
PUBMED 35848616
REMARK GeneRIF: Kir5.1 channels: potential role in epilepsy and seizure
disorders.
Review article
REFERENCE 3 (residues 1 to 418)
AUTHORS Schlingmann KP, Renigunta A, Hoorn EJ, Forst AL, Renigunta V,
Atanasov V, Mahendran S, Barakat TS, Gillion V, Godefroid N, Brooks
AS, Lugtenberg D, Lake J, Debaix H, Rudin C, Knebelmann B, Tellier
S, Rousset-Rouviere C, Viering D, de Baaij JHF, Weber S, Palygin O,
Staruschenko A, Kleta R, Houillier P, Bockenhauer D, Devuyst O,
Vargas-Poussou R, Warth R, Zdebik AA and Konrad M.
TITLE Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt
Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural
Deafness
JOURNAL J Am Soc Nephrol 32 (6), 1498-1512 (2021)
PUBMED 33811157
REMARK GeneRIF: Defects in KCNJ16 Cause a Novel Tubulopathy with
Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and
Sensorineural Deafness.
REFERENCE 4 (residues 1 to 418)
AUTHORS Kompatscher A, de Baaij JHF, Aboudehen K, Hoefnagels APWM, Igarashi
P, Bindels RJM, Veenstra GJC and Hoenderop JGJ.
TITLE Loss of transcriptional activation of the potassium channel Kir5.1
by HNF1beta drives autosomal dominant tubulointerstitial kidney
disease
JOURNAL Kidney Int 92 (5), 1145-1156 (2017)
PUBMED 28577853
REMARK GeneRIF: HNF1beta is a transcriptional activator of Kcnj16. Hence,
patients with HNF1beta mutations may have reduced Kir5.1 activity
in the kidney, resulting in hypokalemia and hypomagnesemia.
REFERENCE 5 (residues 1 to 418)
AUTHORS Konstas AA, Korbmacher C and Tucker SJ.
TITLE Identification of domains that control the heteromeric assembly of
Kir5.1/Kir4.0 potassium channels
JOURNAL Am J Physiol Cell Physiol 284 (4), C910-C917 (2003)
PUBMED 12456399
REFERENCE 6 (residues 1 to 418)
AUTHORS Tanemoto M, Fujita A, Higashi K and Kurachi Y.
TITLE PSD-95 mediates formation of a functional homomeric Kir5.1 channel
in the brain
JOURNAL Neuron 34 (3), 387-397 (2002)
PUBMED 11988170
REFERENCE 7 (residues 1 to 418)
AUTHORS Pessia M, Imbrici P, D'Adamo MC, Salvatore L and Tucker SJ.
TITLE Differential pH sensitivity of Kir4.1 and Kir4.2 potassium channels
and their modulation by heteropolymerisation with Kir5.1
JOURNAL J Physiol 532 (Pt 2), 359-367 (2001)
PUBMED 11306656
REFERENCE 8 (residues 1 to 418)
AUTHORS Derst C, Karschin C, Wischmeyer E, Hirsch JR, Preisig-Muller R,
Rajan S, Engel H, Grzeschik K, Daut J and Karschin A.
TITLE Genetic and functional linkage of Kir5.1 and Kir2.1 channel
subunits
JOURNAL FEBS Lett 491 (3), 305-311 (2001)
PUBMED 11240146
REFERENCE 9 (residues 1 to 418)
AUTHORS Liu Y, McKenna E, Figueroa DJ, Blevins R, Austin CP, Bennett PB and
Swanson R.
TITLE The human inward rectifier K(+) channel subunit kir5.1 (KCNJ16)
maps to chromosome 17q25 and is expressed in kidney and pancreas
JOURNAL Cytogenet Cell Genet 90 (1-2), 60-63 (2000)
PUBMED 11060447
REFERENCE 10 (residues 1 to 418)
AUTHORS Pearson WL, Dourado M, Schreiber M, Salkoff L and Nichols CG.
TITLE Expression of a functional Kir4 family inward rectifier K+ channel
from a gene cloned from mouse liver
JOURNAL J Physiol 514 (Pt 3) (Pt 3), 639-653 (1999)
PUBMED 9882736
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AC005208.1.
On Mar 23, 2020 this sequence version replaced NP_001278552.1.
Summary: Potassium channels are present in most mammalian cells,
where they participate in a wide range of physiologic responses.
The protein encoded by this gene is an integral membrane protein
and inward-rectifier type potassium channel. The encoded protein,
which tends to allow potassium to flow into rather than out of a
cell, can form heterodimers with two other inward-rectifier type
potassium channels. It may function in fluid and pH balance
regulation. Alternatively spliced transcript variants have been
found for this gene. [provided by RefSeq, Apr 2014].
Transcript Variant: This variant (6) differs in the 5' UTR compared
to variant 1. Variants 1-8 all encode the same isoform (b).
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: SRR1803616.106120.1,
SRR1803611.191593.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
SAMEA2144120, SAMEA2145743
[ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
is not conserved
##RefSeq-Attributes-END##
FEATURES Location/Qualifiers
source 1..418
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="17"
/map="17q24.3"
Protein 1..418
/product="inward rectifier potassium channel 16 isoform b"
/note="inward rectifier K+ channel KIR5.1; inward
rectifier potassium channel 16; inward rectifier K(+)
channel Kir5.1; potassium channel, inwardly rectifying
subfamily J member 16; potassium voltage-gated channel
subfamily J member 16"
/calculated_mol_wt=47818
Region 37..173
/region_name="IRK"
/note="Inward rectifier potassium channel; pfam01007"
/db_xref="CDD:425984"
Site 71..95
/site_type="transmembrane region"
/note="propagated from UniProtKB/Swiss-Prot (Q9NPI9.1)"
Region 131..136
/region_name="Selectivity filter. /evidence=ECO:0000250"
/note="propagated from UniProtKB/Swiss-Prot (Q9NPI9.1)"
Site 146..167
/site_type="transmembrane region"
/note="propagated from UniProtKB/Swiss-Prot (Q9NPI9.1)"
Site 161
/site_type="other"
/note="Role in the control of polyamine-mediated channel
gating and in the blocking by intracellular magnesium.
/evidence=ECO:0000250; propagated from
UniProtKB/Swiss-Prot (Q9NPI9.1)"
Region 182..349
/region_name="IRK_C"
/note="Inward rectifier potassium channel C-terminal
domain; pfam17655"
/db_xref="CDD:435949"
Site 373
/site_type="phosphorylation"
/note="Phosphoserine.
/evidence=ECO:0000250|UniProtKB:Q9Z307; propagated from
UniProtKB/Swiss-Prot (Q9NPI9.1)"
Site 375
/site_type="phosphorylation"
/note="Phosphoserine.
/evidence=ECO:0000250|UniProtKB:Q9Z307; propagated from
UniProtKB/Swiss-Prot (Q9NPI9.1)"
CDS 1..418
/gene="KCNJ16"
/gene_synonym="BIR9; HKTD; KIR5.1"
/coded_by="NM_001291623.2:269..1525"
/note="isoform b is encoded by transcript variant 6"
/db_xref="CCDS:CCDS11687.1"
/db_xref="GeneID:3773"
/db_xref="HGNC:HGNC:6262"
/db_xref="MIM:605722"
ORIGIN
1 msyygssyhi inadakypgy ppehiiaekr rarrrllhkd gscnvyfkhi fgewgsyvvd
61 ifttlvdtkw rhmfvifsls yilswlifgs vfwliafhhg dllndpditp cvdnvhsftg
121 aflfsletqt tigygyrcvt eecsvavlmv ilqsilscii ntfiigaala kmatarkraq
181 tirfsyfali gmrdgklclm wrigdfrpnh vvegtvraql lrytedsegr mtmafkdlkl
241 vndqiilvtp vtivheidhe splyaldrka vakdnfeilv tfiytgdstg tshqsrssyv
301 preilwghrf ndvlevkrky ykvnclqfeg svevyapfcs akqldwkdqq lhiekappvr
361 esctsdtkar rrsfsavaiv sscenpeett tsatheyret pyqkalltln risvesqm
//
