KCNN1 (potassium calcium-activated channel subfamily N member 1) - Rat Genome Database

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Gene: KCNN1 (potassium calcium-activated channel subfamily N member 1) Homo sapiens
Analyze
Symbol: KCNN1
Name: potassium calcium-activated channel subfamily N member 1
RGD ID: 731634
HGNC Page HGNC
Description: Predicted to have calmodulin binding activity and small conductance calcium-activated potassium channel activity. Predicted to be involved in potassium ion transmembrane transport. Predicted to localize to several cellular components, including neuron projection; neuronal cell body; and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: hSK1; KCa2.1; potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 1; potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1; SK1; SKCa 1; SKCA1; small conductance calcium-activated potassium channel 1; small conductance calcium-activated potassium channel protein 1; small-conductance calcium-activated potassium channel
RGD Orthologs
Mouse
Rat
Chinchilla
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
GRCh38.p13 Ensembl1917,951,293 - 18,000,085 (+)EnsemblGRCh38hg38GRCh38
GRCh381917,951,290 - 18,000,085 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371918,062,099 - 18,110,894 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361917,923,111 - 17,970,930 (+)NCBINCBI36hg18NCBI36
Build 341917,923,110 - 17,970,930NCBI
Celera1917,963,835 - 18,011,634 (+)NCBI
Cytogenetic Map19p13.11NCBI
HuRef1917,627,350 - 17,675,149 (+)NCBIHuRef
CHM1_11918,061,819 - 18,109,567 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:10516439   PMID:10683185   PMID:10758170   PMID:11146124   PMID:11258935   PMID:11844726   PMID:12382077   PMID:12477932   PMID:12598727   PMID:15489334   PMID:16382103   PMID:17474147  
PMID:21873635   PMID:22082156   PMID:22154908   PMID:24434522   PMID:29737974   PMID:30021884   PMID:31048549   PMID:32296183  


Genomics

Comparative Map Data
KCNN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1917,951,293 - 18,000,085 (+)EnsemblGRCh38hg38GRCh38
GRCh381917,951,290 - 18,000,085 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371918,062,099 - 18,110,894 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361917,923,111 - 17,970,930 (+)NCBINCBI36hg18NCBI36
Build 341917,923,110 - 17,970,930NCBI
Celera1917,963,835 - 18,011,634 (+)NCBI
Cytogenetic Map19p13.11NCBI
HuRef1917,627,350 - 17,675,149 (+)NCBIHuRef
CHM1_11918,061,819 - 18,109,567 (+)NCBICHM1_1
Kcnn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39871,295,802 - 71,318,335 (-)NCBIGRCm39mm39
GRCm39 Ensembl871,294,693 - 71,315,902 (-)Ensembl
GRCm38870,843,158 - 70,865,691 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl870,842,049 - 70,863,258 (-)EnsemblGRCm38mm10GRCm38
MGSCv37873,365,948 - 73,380,907 (-)NCBIGRCm37mm9NCBIm37
MGSCv36873,772,147 - 73,784,574 (-)NCBImm8
Celera873,403,345 - 73,418,311 (-)NCBICelera
Cytogenetic Map8B3.3NCBI
Kcnn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21618,574,858 - 18,597,780 (+)NCBI
Rnor_6.0 Ensembl1620,336,638 - 20,348,804 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01620,325,270 - 20,349,163 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01620,194,340 - 20,206,261 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.11619,093,437 - 19,103,818 (+)NCBI
Celera1618,778,700 - 18,789,456 (+)NCBICelera
Cytogenetic Map16p14NCBI
Kcnn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555243,322,551 - 3,344,346 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555243,323,188 - 3,344,321 (-)NCBIChiLan1.0ChiLan1.0
KCNN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11918,405,077 - 18,455,686 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1918,422,231 - 18,458,630 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01917,430,795 - 17,478,981 (+)NCBIMhudiblu_PPA_v0panPan3
KCNN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12044,939,619 - 44,971,923 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2044,939,603 - 44,969,020 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2044,852,263 - 44,883,423 (-)NCBI
ROS_Cfam_1.02045,424,541 - 45,455,928 (-)NCBI
UMICH_Zoey_3.12044,661,785 - 44,685,096 (-)NCBI
UNSW_CanFamBas_1.02045,071,928 - 45,103,070 (-)NCBI
UU_Cfam_GSD_1.02045,347,879 - 45,379,261 (-)NCBI
Kcnn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118203,558,492 - 203,574,294 (-)NCBI
SpeTri2.0NW_0049365963,107,631 - 3,123,433 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl259,780,011 - 59,817,059 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1259,780,010 - 59,814,815 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2259,348,738 - 59,385,538 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KCNN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1616,440,908 - 16,470,613 (+)NCBI
ChlSab1.1 Ensembl616,448,038 - 16,472,319 (+)Ensembl
Vero_WHO_p1.0NW_0236660742,908,764 - 2,956,592 (-)NCBI
Kcnn1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249081,438,592 - 1,451,980 (+)NCBI

Position Markers
D19S1037  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371918,076,783 - 18,076,919UniSTSGRCh37
Build 361917,937,783 - 17,937,919RGDNCBI36
Celera1917,978,502 - 17,978,630RGD
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map19q12UniSTS
HuRef1917,641,964 - 17,642,088UniSTS
Marshfield Genetic Map1947.67UniSTS
Marshfield Genetic Map1947.67RGD
deCODE Assembly Map1944.14UniSTS
SHGC-30545  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371918,109,795 - 18,109,919UniSTSGRCh37
Build 361917,970,795 - 17,970,919RGDNCBI36
Celera1918,011,499 - 18,011,623RGD
Cytogenetic Map19p13.1UniSTS
HuRef1917,675,014 - 17,675,138UniSTS
TNG Radiation Hybrid Map196477.0UniSTS
GeneMap99-GB4 RH Map19100.47UniSTS
Whitehead-RH Map19106.8UniSTS
GeneMap99-G3 RH Map19438.0UniSTS
D4S2293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371918,076,716 - 18,077,011UniSTSGRCh37
Build 361917,937,716 - 17,938,011RGDNCBI36
Celera1917,978,435 - 17,978,722RGD
Cytogenetic Map19p13.1UniSTS
HuRef1917,641,897 - 17,642,180UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1286
Count of miRNA genes:716
Interacting mature miRNAs:851
Transcripts:ENST00000222249, ENST00000594192, ENST00000609922
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.


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 entire extraembryonic component
High
Medium 3 1 16 1 76 23 1740 12 37 21
Low 320 224 279 23 511 25 259 96 1316 127 909 185 1 122 96
Below cutoff 2075 2600 1299 462 1327 305 3742 1885 653 252 495 1377 166 997 2506 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_170373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_170374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB198191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW594619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE504989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U69883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000222249   ⟹   ENSP00000476519
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1917,951,293 - 18,000,080 (+)Ensembl
RefSeq Acc Id: ENST00000594192
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1917,952,185 - 17,954,653 (+)Ensembl
RefSeq Acc Id: ENST00000609922   ⟹   ENSP00000477114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1917,967,125 - 17,974,113 (+)Ensembl
RefSeq Acc Id: ENST00000615435   ⟹   ENSP00000484926
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1917,973,869 - 17,998,445 (+)Ensembl
RefSeq Acc Id: ENST00000682421   ⟹   ENSP00000507047
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1917,967,199 - 18,000,085 (+)Ensembl
RefSeq Acc Id: ENST00000682726   ⟹   ENSP00000507833
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1917,967,187 - 18,000,085 (+)Ensembl
RefSeq Acc Id: ENST00000682733   ⟹   ENSP00000507255
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1917,952,258 - 18,000,085 (+)Ensembl
RefSeq Acc Id: ENST00000683588   ⟹   ENSP00000507977
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1917,967,131 - 18,000,085 (+)Ensembl
RefSeq Acc Id: ENST00000683930   ⟹   ENSP00000507101
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1917,967,131 - 18,000,085 (+)Ensembl
RefSeq Acc Id: ENST00000684725   ⟹   ENSP00000506918
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1917,967,186 - 18,000,085 (+)Ensembl
RefSeq Acc Id: ENST00000684775   ⟹   ENSP00000507021
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1917,967,107 - 18,000,085 (+)Ensembl
RefSeq Acc Id: NM_001386974   ⟹   NP_001373903
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,967,107 - 18,000,085 (+)NCBI
RefSeq Acc Id: NM_001386975   ⟹   NP_001373904
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,967,107 - 18,000,085 (+)NCBI
RefSeq Acc Id: NM_001386976   ⟹   NP_001373905
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,952,257 - 18,000,085 (+)NCBI
RefSeq Acc Id: NM_001386977   ⟹   NP_001373906
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,967,107 - 18,000,085 (+)NCBI
RefSeq Acc Id: NM_002248   ⟹   NP_002239
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,951,290 - 18,000,085 (+)NCBI
GRCh371918,062,111 - 18,110,133 (+)NCBI
Build 361917,923,111 - 17,970,930 (+)NCBI Archive
HuRef1917,627,350 - 17,675,149 (+)ENTREZGENE
CHM1_11918,061,819 - 18,109,567 (+)NCBI
Sequence:
RefSeq Acc Id: NR_170373
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,967,107 - 18,000,085 (+)NCBI
RefSeq Acc Id: NR_170374
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,967,107 - 18,000,085 (+)NCBI
RefSeq Acc Id: XM_011528004   ⟹   XP_011526306
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,967,131 - 17,998,707 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002239   ⟸   NM_002248
- Peptide Label: isoform 1
- UniProtKB: Q92952 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011526306   ⟸   XM_011528004
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000477114   ⟸   ENST00000609922
RefSeq Acc Id: ENSP00000484926   ⟸   ENST00000615435
RefSeq Acc Id: ENSP00000476519   ⟸   ENST00000222249
RefSeq Acc Id: NP_001373905   ⟸   NM_001386976
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001373904   ⟸   NM_001386975
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001373903   ⟸   NM_001386974
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001373906   ⟸   NM_001386977
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000507977   ⟸   ENST00000683588
RefSeq Acc Id: ENSP00000507047   ⟸   ENST00000682421
RefSeq Acc Id: ENSP00000507833   ⟸   ENST00000682726
RefSeq Acc Id: ENSP00000506918   ⟸   ENST00000684725
RefSeq Acc Id: ENSP00000507021   ⟸   ENST00000684775
RefSeq Acc Id: ENSP00000507101   ⟸   ENST00000683930
RefSeq Acc Id: ENSP00000507255   ⟸   ENST00000682733
Protein Domains
CaMBD

Promoters
RGD ID:6795690
Promoter ID:HG_KWN:29275
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000222249,   NM_002248
Position:
Human AssemblyChrPosition (strand)Source
Build 361917,922,081 - 17,922,581 (+)MPROMDB
RGD ID:7239079
Promoter ID:EPDNEW_H25285
Type:initiation region
Name:KCNN1_2
Description:potassium calcium-activated channel subfamily N member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25286  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,951,290 - 17,951,350EPDNEW
RGD ID:7239081
Promoter ID:EPDNEW_H25286
Type:initiation region
Name:KCNN1_1
Description:potassium calcium-activated channel subfamily N member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25285  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,967,107 - 17,967,167EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3 copy number gain See cases [RCV000050635] Chr19:17176767..34924150 [GRCh38]
Chr19:17287576..35415054 [GRCh37]
Chr19:17148576..40106894 [NCBI36]
Chr19:19p13.11-q13.11
pathogenic
GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3 copy number gain See cases [RCV000052912] Chr19:13974677..27839676 [GRCh38]
Chr19:14085489..28330584 [GRCh37]
Chr19:13946489..33022424 [NCBI36]
Chr19:19p13.12-q11
pathogenic
GRCh38/hg38 19p13.11(chr19:17922234-18463153)x1 copy number loss See cases [RCV000053946] Chr19:17922234..18463153 [GRCh38]
Chr19:18033043..18573963 [GRCh37]
Chr19:17894043..18434963 [NCBI36]
Chr19:19p13.11
pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3 copy number gain See cases [RCV000136696] Chr19:15133594..24193591 [GRCh38]
Chr19:15244405..24376393 [GRCh37]
Chr19:15105405..24168233 [NCBI36]
Chr19:19p13.12-12
pathogenic|likely pathogenic
GRCh37/hg19 19p13.11-11(chr19:16526787-24631604)x3 copy number gain not provided [RCV000752593] Chr19:16526787..24631604 [GRCh37]
Chr19:19p13.11-11
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_002248.4(KCNN1):c.90C>T (p.Ala30=) single nucleotide variant not provided [RCV000905788] Chr19:17973978 [GRCh38]
Chr19:18084787 [GRCh37]
Chr19:19p13.11
benign
NM_002248.4(KCNN1):c.917+8C>T single nucleotide variant not provided [RCV000909525] Chr19:17982135 [GRCh38]
Chr19:18092944 [GRCh37]
Chr19:19p13.11
benign
GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3 copy number gain not provided [RCV001259370] Chr19:14286624..20956753 [GRCh37]
Chr19:19p13.12-12
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6290 AgrOrtholog
COSMIC KCNN1 COSMIC
Ensembl Genes ENSG00000105642 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000476519 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000477114 UniProtKB/TrEMBL
  ENSP00000484926 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000507021 ENTREZGENE
  ENSP00000507047 ENTREZGENE
  ENSP00000507255 ENTREZGENE
  ENSP00000507977 ENTREZGENE
Ensembl Transcript ENST00000222249 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000609922 UniProtKB/TrEMBL
  ENST00000615435 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000682421 ENTREZGENE
  ENST00000682726 ENTREZGENE
  ENST00000682733 ENTREZGENE
  ENST00000683588 ENTREZGENE
  ENST00000683930 ENTREZGENE
  ENST00000684775 ENTREZGENE
GTEx ENSG00000105642 GTEx
HGNC ID HGNC:6290 ENTREZGENE
Human Proteome Map KCNN1 Human Proteome Map
InterPro CaM-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CaM-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_Ca-activ_SK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3780 UniProtKB/Swiss-Prot
NCBI Gene 3780 ENTREZGENE
OMIM 602982 OMIM
PANTHER PTHR10153 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CaMBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SK_channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30070 PharmGKB
PRINTS SKCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CaMBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF81327 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087X2E7_HUMAN UniProtKB/TrEMBL
  KCNN1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  V9GYV2_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q5KR10 UniProtKB/Swiss-Prot
  Q6DJU4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNN1  potassium calcium-activated channel subfamily N member 1    potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 1  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNN1  potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 1    potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1  Symbol and/or name change 5135510 APPROVED
2011-08-23 KCNN1  potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1  KCNN1  potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1  Symbol and/or name change 5135510 APPROVED