KCNU1 (potassium calcium-activated channel subfamily U member 1) - Rat Genome Database

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Gene: KCNU1 (potassium calcium-activated channel subfamily U member 1) Homo sapiens
Analyze
Symbol: KCNU1
Name: potassium calcium-activated channel subfamily U member 1
RGD ID: 1348220
HGNC Page HGNC:18867
Description: Enables potassium channel activity. Involved in reproductive process. Predicted to be located in plasma membrane. Predicted to be part of monoatomic ion channel complex. Predicted to be active in membrane. Implicated in spermatogenic failure.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Calcium-activated potassium channel subunit alpha-3; Calcium-activated potassium channel, subfamily M subunit alpha-3; KCa5; KCa5.1; Kcnma3; KCNMC1; potassium channel subfamily U member 1; potassium channel, subfamily U, member 1; Slo3; Slowpoke homolog 3; SPGF79
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38836,784,374 - 36,936,125 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl836,784,324 - 36,936,125 (+)EnsemblGRCh38hg38GRCh38
GRCh37836,641,892 - 36,793,643 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36836,761,000 - 36,912,801 (+)NCBINCBI36Build 36hg18NCBI36
Build 34836,761,058 - 36,912,799NCBI
Celera835,592,114 - 35,743,914 (+)NCBICelera
Cytogenetic Map8p11.23NCBI
HuRef835,176,234 - 35,328,030 (+)NCBIHuRef
CHM1_1836,844,078 - 36,995,868 (+)NCBICHM1_1
T2T-CHM13v2.0837,060,432 - 37,212,188 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9452476   PMID:12477932   PMID:16344560   PMID:16382103   PMID:16421571   PMID:20379614   PMID:21873635   PMID:21901158   PMID:22747683   PMID:23129643   PMID:24670955   PMID:25675513  
PMID:28377504   PMID:34980136   PMID:35551387  


Genomics

Comparative Map Data
KCNU1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38836,784,374 - 36,936,125 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl836,784,324 - 36,936,125 (+)EnsemblGRCh38hg38GRCh38
GRCh37836,641,892 - 36,793,643 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36836,761,000 - 36,912,801 (+)NCBINCBI36Build 36hg18NCBI36
Build 34836,761,058 - 36,912,799NCBI
Celera835,592,114 - 35,743,914 (+)NCBICelera
Cytogenetic Map8p11.23NCBI
HuRef835,176,234 - 35,328,030 (+)NCBIHuRef
CHM1_1836,844,078 - 36,995,868 (+)NCBICHM1_1
T2T-CHM13v2.0837,060,432 - 37,212,188 (+)NCBIT2T-CHM13v2.0
Kcnu1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39826,338,656 - 26,427,971 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl826,339,651 - 26,427,967 (+)EnsemblGRCm39 Ensembl
GRCm38825,848,627 - 25,937,943 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl825,849,623 - 25,937,939 (+)EnsemblGRCm38mm10GRCm38
MGSCv37826,960,095 - 27,048,406 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36827,315,201 - 27,403,347 (+)NCBIMGSCv36mm8
Celera827,317,965 - 27,405,769 (+)NCBICelera
Cytogenetic Map8A2NCBI
cM Map814.17NCBI
Kcnu1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81672,844,692 - 72,932,216 (-)NCBIGRCr8
mRatBN7.21666,141,696 - 66,229,493 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1666,141,976 - 66,229,465 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01670,913,825 - 70,998,593 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1670,913,817 - 70,998,575 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01670,577,547 - 70,663,252 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41670,517,667 - 70,604,946 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1664,052,606 - 64,139,348 (-)NCBICelera
Cytogenetic Map16q12.4NCBI
KCNU1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2755,334,556 - 55,490,675 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1831,058,504 - 31,209,437 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0836,081,180 - 36,231,982 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1833,261,491 - 33,412,532 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl833,261,041 - 33,412,972 (+)Ensemblpanpan1.1panPan2
KCNU1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11628,333,783 - 28,478,433 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1628,334,505 - 28,478,385 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1628,849,104 - 28,996,123 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01630,237,142 - 30,381,628 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1630,237,799 - 30,381,574 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11628,453,068 - 28,597,470 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01629,030,890 - 29,175,529 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01629,069,713 - 29,214,130 (-)NCBIUU_Cfam_GSD_1.0
Kcnu1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494350,995,030 - 51,159,837 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936710331,610 - 465,981 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936710301,387 - 465,935 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNU1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1549,316,673 - 49,444,385 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11549,317,110 - 49,444,337 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21556,423,626 - 56,550,938 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KCNU1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_0236660527,074,230 - 7,147,364 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcnu1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247806,748,764 - 6,904,697 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247806,751,411 - 6,929,900 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCNU1
56 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3 copy number gain See cases [RCV000050904] Chr8:25832130..48521849 [GRCh38]
Chr8:25689646..49434409 [GRCh37]
Chr8:25745563..49596962 [NCBI36]
Chr8:8p21.2-q11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1 copy number loss See cases [RCV000050745] Chr8:34312250..43158901 [GRCh38]
Chr8:34169768..43014044 [GRCh37]
Chr8:34289310..43133201 [NCBI36]
Chr8:8p12-11.21
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3 copy number gain See cases [RCV000050995] Chr8:29719897..48521849 [GRCh38]
Chr8:29577413..49434409 [GRCh37]
Chr8:29633332..49596962 [NCBI36]
Chr8:8p12-q11.21
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_001031836.2(KCNU1):c.81C>T (p.Phe27=) single nucleotide variant Malignant melanoma [RCV000068297] Chr8:36784491 [GRCh38]
Chr8:36642009 [GRCh37]
Chr8:36761167 [NCBI36]
Chr8:8p11.23
not provided
NM_001031836.2(KCNU1):c.2508A>T (p.Ser836=) single nucleotide variant Malignant melanoma [RCV000068298] Chr8:36911106 [GRCh38]
Chr8:36768624 [GRCh37]
Chr8:36887782 [NCBI36]
Chr8:8p11.23
not provided
NM_001031836.2(KCNU1):c.2736+27C>T single nucleotide variant Lung cancer [RCV000107361] Chr8:36922656 [GRCh38]
Chr8:36780174 [GRCh37]
Chr8:8p11.23
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1 copy number loss See cases [RCV000136878] Chr8:29362097..40231708 [GRCh38]
Chr8:29219614..40089227 [GRCh37]
Chr8:29275533..40208384 [NCBI36]
Chr8:8p12-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3 copy number gain See cases [RCV000139582] Chr8:36580103..59618998 [GRCh38]
Chr8:36437621..60531557 [GRCh37]
Chr8:36556779..60694111 [NCBI36]
Chr8:8p12-q12.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_001031836.3(KCNU1):c.231T>A (p.His77Gln) single nucleotide variant Inborn genetic diseases [RCV003248442] Chr8:36787341 [GRCh38]
Chr8:36644859 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.1968G>T (p.Arg656Ser) single nucleotide variant Inborn genetic diseases [RCV003288154] Chr8:36864480 [GRCh38]
Chr8:36721998 [GRCh37]
Chr8:8p11.23
uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8p12-11.21(chr8:31352498-41481295)x3 copy number gain not provided [RCV000683035] Chr8:31352498..41481295 [GRCh37]
Chr8:8p12-11.21
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_001031836.3(KCNU1):c.1910T>C (p.Met637Thr) single nucleotide variant Inborn genetic diseases [RCV003268038] Chr8:36864422 [GRCh38]
Chr8:36721940 [GRCh37]
Chr8:8p11.23
uncertain significance
GRCh37/hg19 8p12-11.23(chr8:36486830-37992515)x1 copy number loss See cases [RCV000790586] Chr8:36486830..37992515 [GRCh37]
Chr8:8p12-11.23
uncertain significance
NM_001031836.3(KCNU1):c.2727G>C (p.Leu909=) single nucleotide variant not provided [RCV000948339] Chr8:36922620 [GRCh38]
Chr8:36780138 [GRCh37]
Chr8:8p11.23
benign
NM_001031836.3(KCNU1):c.3364T>A (p.Leu1122Ile) single nucleotide variant Inborn genetic diseases [RCV003270372] Chr8:36935834 [GRCh38]
Chr8:36793352 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.2843C>A (p.Ala948Glu) single nucleotide variant Inborn genetic diseases [RCV003270632] Chr8:36931057 [GRCh38]
Chr8:36788575 [GRCh37]
Chr8:8p11.23
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p12-11.1(chr8:36094421-43822214)x3 copy number gain not provided [RCV000848822] Chr8:36094421..43822214 [GRCh37]
Chr8:8p12-11.1
uncertain significance
NM_001031836.3(KCNU1):c.106T>C (p.Phe36Leu) single nucleotide variant Inborn genetic diseases [RCV003239604] Chr8:36784516 [GRCh38]
Chr8:36642034 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.2925C>T (p.Asp975=) single nucleotide variant not provided [RCV000952554] Chr8:36931139 [GRCh38]
Chr8:36788657 [GRCh37]
Chr8:8p11.23
benign
NM_001031836.3(KCNU1):c.2731G>A (p.Ala911Thr) single nucleotide variant not provided [RCV000907550] Chr8:36922624 [GRCh38]
Chr8:36780142 [GRCh37]
Chr8:8p11.23
benign
NM_001031836.3(KCNU1):c.990A>C (p.Gly330=) single nucleotide variant not provided [RCV000956593] Chr8:36815682 [GRCh38]
Chr8:36673200 [GRCh37]
Chr8:8p11.23
benign
NM_001031836.3(KCNU1):c.1437A>G (p.Lys479=) single nucleotide variant not provided [RCV000956594] Chr8:36836864 [GRCh38]
Chr8:36694382 [GRCh37]
Chr8:8p11.23
benign
NM_001031836.3(KCNU1):c.2522-8C>T single nucleotide variant not provided [RCV000956595] Chr8:36918815 [GRCh38]
Chr8:36776333 [GRCh37]
Chr8:8p11.23
benign
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_001031836.3(KCNU1):c.2588C>T (p.Thr863Ile) single nucleotide variant Inborn genetic diseases [RCV003295094] Chr8:36918889 [GRCh38]
Chr8:36776407 [GRCh37]
Chr8:8p11.23
likely benign
NM_001031836.3(KCNU1):c.2144A>G (p.His715Arg) single nucleotide variant Spermatogenic failure 79 [RCV003152322] Chr8:36909348 [GRCh38]
Chr8:36766866 [GRCh37]
Chr8:8p11.23
pathogenic
NM_001031836.3(KCNU1):c.1237A>T (p.Ile413Phe) single nucleotide variant Spermatogenic failure 79 [RCV003152321] Chr8:36834810 [GRCh38]
Chr8:36692328 [GRCh37]
Chr8:8p11.23
pathogenic
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
NM_001031836.3(KCNU1):c.1586G>A (p.Arg529His) single nucleotide variant Inborn genetic diseases [RCV003279384] Chr8:36840530 [GRCh38]
Chr8:36698048 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.1295+3A>C single nucleotide variant Spermatogenic failure 79 [RCV003152323] Chr8:36834871 [GRCh38]
Chr8:36692389 [GRCh37]
Chr8:8p11.23
pathogenic
GRCh37/hg19 8p21.2-11.22(chr8:26808969-38346383)x1 copy number loss not provided [RCV002472596] Chr8:26808969..38346383 [GRCh37]
Chr8:8p21.2-11.22
pathogenic
NM_001031836.3(KCNU1):c.1060C>T (p.Arg354Cys) single nucleotide variant Inborn genetic diseases [RCV003307273] Chr8:36817714 [GRCh38]
Chr8:36675232 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.1063G>A (p.Asp355Asn) single nucleotide variant Inborn genetic diseases [RCV002992115] Chr8:36817717 [GRCh38]
Chr8:36675235 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.2855C>T (p.Thr952Met) single nucleotide variant Inborn genetic diseases [RCV002841286] Chr8:36931069 [GRCh38]
Chr8:36788587 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.884T>C (p.Phe295Ser) single nucleotide variant Inborn genetic diseases [RCV002817370] Chr8:36814358 [GRCh38]
Chr8:36671876 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.2959T>C (p.Cys987Arg) single nucleotide variant Inborn genetic diseases [RCV002883916] Chr8:36932947 [GRCh38]
Chr8:36790465 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.3025C>T (p.Leu1009Phe) single nucleotide variant Inborn genetic diseases [RCV002945932] Chr8:36933013 [GRCh38]
Chr8:36790531 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.1978A>G (p.Ser660Gly) single nucleotide variant Inborn genetic diseases [RCV002968472] Chr8:36864490 [GRCh38]
Chr8:36722008 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.727C>T (p.His243Tyr) single nucleotide variant Inborn genetic diseases [RCV002839769] Chr8:36808788 [GRCh38]
Chr8:36666306 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.2255T>C (p.Val752Ala) single nucleotide variant Inborn genetic diseases [RCV002694614] Chr8:36909459 [GRCh38]
Chr8:36766977 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.2207T>A (p.Met736Lys) single nucleotide variant Inborn genetic diseases [RCV002783265] Chr8:36909411 [GRCh38]
Chr8:36766929 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.3013G>T (p.Asp1005Tyr) single nucleotide variant Inborn genetic diseases [RCV002884291] Chr8:36933001 [GRCh38]
Chr8:36790519 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.1385C>A (p.Pro462His) single nucleotide variant Inborn genetic diseases [RCV002888574] Chr8:36836812 [GRCh38]
Chr8:36694330 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.1885A>G (p.Ile629Val) single nucleotide variant Inborn genetic diseases [RCV003001664] Chr8:36845893 [GRCh38]
Chr8:36703411 [GRCh37]
Chr8:8p11.23
likely benign
NM_001031836.3(KCNU1):c.890C>T (p.Thr297Ile) single nucleotide variant Inborn genetic diseases [RCV002704742] Chr8:36814364 [GRCh38]
Chr8:36671882 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.1958C>T (p.Ser653Phe) single nucleotide variant Inborn genetic diseases [RCV002955585] Chr8:36864470 [GRCh38]
Chr8:36721988 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.2408C>G (p.Pro803Arg) single nucleotide variant Inborn genetic diseases [RCV002768707] Chr8:36911006 [GRCh38]
Chr8:36768524 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.371C>T (p.Ser124Phe) single nucleotide variant Inborn genetic diseases [RCV003004081] Chr8:36804082 [GRCh38]
Chr8:36661600 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.2147T>C (p.Ile716Thr) single nucleotide variant Inborn genetic diseases [RCV002919487] Chr8:36909351 [GRCh38]
Chr8:36766869 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.644C>T (p.Ala215Val) single nucleotide variant Inborn genetic diseases [RCV002788413] Chr8:36807438 [GRCh38]
Chr8:36664956 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.1025T>C (p.Val342Ala) single nucleotide variant Inborn genetic diseases [RCV002670228] Chr8:36817679 [GRCh38]
Chr8:36675197 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.2408C>T (p.Pro803Leu) single nucleotide variant Inborn genetic diseases [RCV002879227] Chr8:36911006 [GRCh38]
Chr8:36768524 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.1964C>T (p.Pro655Leu) single nucleotide variant Inborn genetic diseases [RCV002960748] Chr8:36864476 [GRCh38]
Chr8:36721994 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.3356A>G (p.Gln1119Arg) single nucleotide variant Inborn genetic diseases [RCV002959385] Chr8:36935826 [GRCh38]
Chr8:36793344 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.323T>C (p.Leu108Pro) single nucleotide variant Inborn genetic diseases [RCV002769581] Chr8:36804034 [GRCh38]
Chr8:36661552 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.2355C>A (p.Asp785Glu) single nucleotide variant Inborn genetic diseases [RCV002648724] Chr8:36910953 [GRCh38]
Chr8:36768471 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.2117G>T (p.Gly706Val) single nucleotide variant Inborn genetic diseases [RCV002680161] Chr8:36909321 [GRCh38]
Chr8:36766839 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.826A>G (p.Thr276Ala) single nucleotide variant Inborn genetic diseases [RCV002678341] Chr8:36814300 [GRCh38]
Chr8:36671818 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.878T>A (p.Ile293Asn) single nucleotide variant Inborn genetic diseases [RCV002652886] Chr8:36814352 [GRCh38]
Chr8:36671870 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.1558A>G (p.Ser520Gly) single nucleotide variant Inborn genetic diseases [RCV003196776] Chr8:36840502 [GRCh38]
Chr8:36698020 [GRCh37]
Chr8:8p11.23
likely benign
NM_001031836.3(KCNU1):c.3389A>G (p.Glu1130Gly) single nucleotide variant Inborn genetic diseases [RCV003178153] Chr8:36935859 [GRCh38]
Chr8:36793377 [GRCh37]
Chr8:8p11.23
likely benign
NM_001031836.3(KCNU1):c.3377C>A (p.Ala1126Glu) single nucleotide variant Inborn genetic diseases [RCV003200040] Chr8:36935847 [GRCh38]
Chr8:36793365 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.941T>A (p.Leu314Gln) single nucleotide variant Inborn genetic diseases [RCV003173840] Chr8:36815633 [GRCh38]
Chr8:36673151 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.68T>A (p.Ile23Asn) single nucleotide variant Inborn genetic diseases [RCV003308577] Chr8:36784478 [GRCh38]
Chr8:36641996 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.946G>A (p.Ala316Thr) single nucleotide variant Inborn genetic diseases [RCV003263092] Chr8:36815638 [GRCh38]
Chr8:36673156 [GRCh37]
Chr8:8p11.23
uncertain significance
GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3 copy number gain See cases [RCV003329560] Chr8:36763176..50929707 [GRCh37]
Chr8:8p11.23-q11.21
pathogenic
NM_001031836.3(KCNU1):c.520G>A (p.Val174Ile) single nucleotide variant Inborn genetic diseases [RCV003341336] Chr8:36806320 [GRCh38]
Chr8:36663838 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.1211C>T (p.Ala404Val) single nucleotide variant Inborn genetic diseases [RCV003347067] Chr8:36833658 [GRCh38]
Chr8:36691176 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.1493C>T (p.Ser498Phe) single nucleotide variant Inborn genetic diseases [RCV003348519] Chr8:36836920 [GRCh38]
Chr8:36694438 [GRCh37]
Chr8:8p11.23
uncertain significance
GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3 copy number gain not provided [RCV003484724] Chr8:12560782..38748763 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
NM_001031836.3(KCNU1):c.2183C>T (p.Pro728Leu) single nucleotide variant not provided [RCV003457533] Chr8:36909387 [GRCh38]
Chr8:36766905 [GRCh37]
Chr8:8p11.23
likely benign
Single allele duplication not provided [RCV003448693] Chr8:12530550..43483193 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3 copy number gain not provided [RCV003484713] Chr8:2201405..41723095 [GRCh37]
Chr8:8p23.2-11.21
pathogenic
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3 copy number gain not provided [RCV003484722] Chr8:11945856..37902453 [GRCh37]
Chr8:8p23.1-11.23
pathogenic
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3 copy number gain not provided [RCV003484725] Chr8:14240573..43824035 [GRCh37]
Chr8:8p22-11.1
pathogenic
NM_001031836.3(KCNU1):c.3266T>C (p.Val1089Ala) single nucleotide variant not provided [RCV003457159] Chr8:36935736 [GRCh38]
Chr8:36793254 [GRCh37]
Chr8:8p11.23
uncertain significance
NM_001031836.3(KCNU1):c.1726C>A (p.Pro576Thr) single nucleotide variant not provided [RCV003436858] Chr8:36845602 [GRCh38]
Chr8:36703120 [GRCh37]
Chr8:8p11.23
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:768
Count of miRNA genes:515
Interacting mature miRNAs:567
Transcripts:ENST00000399881, ENST00000518904, ENST00000522372, ENST00000522417, ENST00000523973
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
WI-11522  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37836,793,488 - 36,793,623UniSTSGRCh37
Build 36836,912,646 - 36,912,781RGDNCBI36
Celera835,743,759 - 35,743,894RGD
Cytogenetic Map8p11.23UniSTS
HuRef835,327,875 - 35,328,010UniSTS
GeneMap99-GB4 RH Map8140.85UniSTS
Whitehead-RH Map8174.2UniSTS
SHGC-80739  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37836,653,387 - 36,653,708UniSTSGRCh37
Build 36836,772,545 - 36,772,866RGDNCBI36
Celera835,603,660 - 35,603,981RGD
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map8p11.22UniSTS
HuRef835,187,779 - 35,188,100UniSTS
TNG Radiation Hybrid Map820084.0UniSTS
RH121708  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37836,716,638 - 36,716,909UniSTSGRCh37
Build 36836,835,796 - 36,836,067RGDNCBI36
Celera835,666,906 - 35,667,177RGD
Cytogenetic Map8p11.23UniSTS
HuRef835,251,031 - 35,251,302UniSTS
TNG Radiation Hybrid Map820051.0UniSTS
SHGC-106159  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37836,783,229 - 36,783,521UniSTSGRCh37
Build 36836,902,387 - 36,902,679RGDNCBI36
Celera835,733,501 - 35,733,793RGD
Cytogenetic Map8p11.23UniSTS
HuRef835,317,617 - 35,317,909UniSTS
TNG Radiation Hybrid Map820030.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium 1 2 206 1
Low 4 37 32 6 32 23 8 9 7 201 21 7 3
Below cutoff 412 421 363 127 165 68 1692 315 1255 32 379 227 60 656 797

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001031836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC090453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC124076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB089392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC401954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000399881   ⟹   ENSP00000382770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl836,784,374 - 36,936,125 (+)Ensembl
RefSeq Acc Id: ENST00000518904   ⟹   ENSP00000428106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl836,928,905 - 36,931,145 (+)Ensembl
RefSeq Acc Id: ENST00000522372   ⟹   ENSP00000428552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl836,784,383 - 36,936,125 (+)Ensembl
RefSeq Acc Id: ENST00000522417   ⟹   ENSP00000429149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl836,784,399 - 36,807,404 (+)Ensembl
RefSeq Acc Id: ENST00000523973   ⟹   ENSP00000429951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl836,784,324 - 36,814,400 (+)Ensembl
RefSeq Acc Id: NM_001031836   ⟹   NP_001027006
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38836,784,374 - 36,936,125 (+)NCBI
GRCh37836,641,842 - 36,793,643 (+)RGD
Build 36836,761,000 - 36,912,801 (+)NCBI Archive
Celera835,592,114 - 35,743,914 (+)RGD
HuRef835,176,234 - 35,328,030 (+)ENTREZGENE
CHM1_1836,844,078 - 36,995,868 (+)NCBI
T2T-CHM13v2.0837,060,432 - 37,212,188 (+)NCBI
Sequence:
RefSeq Acc Id: NR_134267
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38836,784,374 - 36,936,125 (+)NCBI
CHM1_1836,844,078 - 36,995,868 (+)NCBI
T2T-CHM13v2.0837,060,432 - 37,212,188 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544424   ⟹   XP_011542726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38836,784,374 - 36,936,125 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544426   ⟹   XP_011542728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38836,784,374 - 36,936,125 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544427   ⟹   XP_011542729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38836,784,374 - 36,922,579 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013144   ⟹   XP_016868633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38836,784,374 - 36,936,125 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447080   ⟹   XP_024302848
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38836,784,374 - 36,923,063 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054359857   ⟹   XP_054215832
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0837,060,432 - 37,212,188 (+)NCBI
RefSeq Acc Id: XM_054359858   ⟹   XP_054215833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0837,060,432 - 37,212,188 (+)NCBI
RefSeq Acc Id: XM_054359859   ⟹   XP_054215834
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0837,060,432 - 37,212,188 (+)NCBI
RefSeq Acc Id: XM_054359860   ⟹   XP_054215835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0837,060,432 - 37,199,128 (+)NCBI
RefSeq Acc Id: XM_054359861   ⟹   XP_054215836
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0837,060,432 - 37,198,644 (+)NCBI
RefSeq Acc Id: XR_001745486
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38836,784,374 - 36,869,998 (+)NCBI
Sequence:
RefSeq Acc Id: XR_008487815
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0837,060,432 - 37,146,056 (+)NCBI
RefSeq Acc Id: NP_001027006   ⟸   NM_001031836
- UniProtKB: A8MYU2 (UniProtKB/Swiss-Prot),   B4DYE4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011542728   ⟸   XM_011544426
- Peptide Label: isoform X3
- UniProtKB: E5RHP1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011542726   ⟸   XM_011544424
- Peptide Label: isoform X1
- UniProtKB: B4DYE4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011542729   ⟸   XM_011544427
- Peptide Label: isoform X5
- UniProtKB: E5RHP1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016868633   ⟸   XM_017013144
- Peptide Label: isoform X2
- UniProtKB: B4DYE4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024302848   ⟸   XM_024447080
- Peptide Label: isoform X4
- UniProtKB: E5RHP1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000382770   ⟸   ENST00000399881
RefSeq Acc Id: ENSP00000428106   ⟸   ENST00000518904
RefSeq Acc Id: ENSP00000429149   ⟸   ENST00000522417
RefSeq Acc Id: ENSP00000428552   ⟸   ENST00000522372
RefSeq Acc Id: ENSP00000429951   ⟸   ENST00000523973
RefSeq Acc Id: XP_054215834   ⟸   XM_054359859
- Peptide Label: isoform X3
- UniProtKB: E5RHP1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054215833   ⟸   XM_054359858
- Peptide Label: isoform X2
- UniProtKB: B4DYE4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054215832   ⟸   XM_054359857
- Peptide Label: isoform X1
- UniProtKB: B4DYE4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054215835   ⟸   XM_054359860
- Peptide Label: isoform X4
- UniProtKB: E5RHP1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054215836   ⟸   XM_054359861
- Peptide Label: isoform X5
- UniProtKB: E5RHP1 (UniProtKB/TrEMBL)
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A8MYU2-F1-model_v2 AlphaFold A8MYU2 1-1149 view protein structure

Promoters
RGD ID:7213085
Promoter ID:EPDNEW_H12288
Type:initiation region
Name:KCNU1_1
Description:potassium calcium-activated channel subfamily U member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38836,784,396 - 36,784,456EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18867 AgrOrtholog
COSMIC KCNU1 COSMIC
Ensembl Genes ENSG00000215262 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000399881 ENTREZGENE
  ENST00000399881.8 UniProtKB/Swiss-Prot
  ENST00000522372 ENTREZGENE
  ENST00000522372.5 UniProtKB/TrEMBL
  ENST00000522417.1 UniProtKB/TrEMBL
  ENST00000523973.5 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000215262 GTEx
HGNC ID HGNC:18867 ENTREZGENE
Human Proteome Map KCNU1 Human Proteome Map
InterPro Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_BK_asu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_Slo-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Slowpoke-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:157855 UniProtKB/Swiss-Prot
NCBI Gene 157855 ENTREZGENE
OMIM 615215 OMIM
PANTHER CALCIUM-ACTIVATED POTASSIUM CHANNEL ALPHA CHAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  POTASSIUM CHANNEL SUBFAMILY U MEMBER 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BK_channel_a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Slowpoke_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38727 PharmGKB
PRINTS BKCHANNELA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KCHANNEL UniProtKB/TrEMBL
Superfamily-SCOP Voltage-gated potassium channels UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8MYU2 ENTREZGENE
  B4DYE4 ENTREZGENE, UniProtKB/TrEMBL
  E5RGP7_HUMAN UniProtKB/TrEMBL
  E5RHP1 ENTREZGENE, UniProtKB/TrEMBL
  E5RJA6_HUMAN UniProtKB/TrEMBL
  KCNU1_HUMAN UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNU1  potassium calcium-activated channel subfamily U member 1    potassium channel, subfamily U, member 1  Symbol and/or name change 5135510 APPROVED