KCNF1 (potassium voltage-gated channel modifier subfamily F member 1) - Rat Genome Database

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Gene: KCNF1 (potassium voltage-gated channel modifier subfamily F member 1) Homo sapiens
Analyze
Symbol: KCNF1
Name: potassium voltage-gated channel modifier subfamily F member 1
RGD ID: 735852
HGNC Page HGNC:6246
Description: Predicted to enable voltage-gated potassium channel activity. Predicted to be involved in potassium ion transmembrane transport. Predicted to be located in plasma membrane. Predicted to be part of voltage-gated potassium channel complex. Predicted to be active in ciliary base.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: IK8; KCNF; kH1; KV5.1; MGC33316; potassium channel KH1; potassium channel Kv5.1; potassium channel, voltage gated modifier subfamily F, member 1; potassium channel, voltage gated subfamily F, member 1; potassium voltage-gated channel subfamily F member 1; potassium voltage-gated channel, subfamily F, member 1; voltage-gated potassium channel subunit Kv5.1
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
GRCh38210,911,934 - 10,914,225 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl210,911,934 - 10,914,225 (+)EnsemblGRCh38hg38GRCh38
GRCh37211,052,060 - 11,054,351 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36210,969,514 - 10,971,802 (+)NCBINCBI36Build 36hg18NCBI36
Build 34211,002,660 - 11,004,948NCBI
Celera210,967,196 - 10,969,484 (+)NCBICelera
Cytogenetic Map2p25.1NCBI
HuRef210,903,225 - 10,905,447 (+)NCBIHuRef
CHM1_1210,982,228 - 10,984,516 (+)NCBICHM1_1
T2T-CHM13v2.0210,941,696 - 10,943,987 (+)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

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9434767   PMID:12060745   PMID:12477932   PMID:15489334   PMID:16382104   PMID:21873635   PMID:23840749   PMID:32296183   PMID:33961781   PMID:36385523  


Genomics

Comparative Map Data
KCNF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38210,911,934 - 10,914,225 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl210,911,934 - 10,914,225 (+)EnsemblGRCh38hg38GRCh38
GRCh37211,052,060 - 11,054,351 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36210,969,514 - 10,971,802 (+)NCBINCBI36Build 36hg18NCBI36
Build 34211,002,660 - 11,004,948NCBI
Celera210,967,196 - 10,969,484 (+)NCBICelera
Cytogenetic Map2p25.1NCBI
HuRef210,903,225 - 10,905,447 (+)NCBIHuRef
CHM1_1210,982,228 - 10,984,516 (+)NCBICHM1_1
T2T-CHM13v2.0210,941,696 - 10,943,987 (+)NCBIT2T-CHM13v2.0
Kcnf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391217,222,101 - 17,226,551 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1217,222,101 - 17,226,889 (-)EnsemblGRCm39 Ensembl
GRCm381217,172,100 - 17,176,888 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1217,172,100 - 17,176,888 (-)EnsemblGRCm38mm10GRCm38
MGSCv371217,178,906 - 17,183,694 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361217,197,580 - 17,202,005 (-)NCBIMGSCv36mm8
Celera1217,493,636 - 17,498,423 (-)NCBICelera
Cytogenetic Map12A1.1NCBI
cM Map128.04NCBI
Kcnf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8645,691,028 - 45,693,706 (-)NCBIGRCr8
mRatBN7.2639,962,301 - 39,964,979 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl639,962,307 - 39,964,979 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx640,289,685 - 40,292,363 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0640,604,381 - 40,607,059 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0640,037,630 - 40,040,308 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0642,471,060 - 42,473,738 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl642,471,066 - 42,473,738 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0652,191,159 - 52,193,837 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4640,910,390 - 40,913,068 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1640,913,548 - 40,916,021 (-)NCBI
Celera639,263,866 - 39,266,544 (-)NCBICelera
Cytogenetic Map6q16NCBI
KCNF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v212115,606,651 - 115,608,942 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A115,610,622 - 115,612,913 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A10,906,060 - 10,908,818 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A11,058,115 - 11,061,078 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A11,055,090 - 11,060,758 (+)Ensemblpanpan1.1panPan2
KCNF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1177,752,588 - 7,754,482 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl177,752,651 - 7,754,153 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha177,678,062 - 7,679,917 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0177,854,763 - 7,856,618 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl177,817,828 - 7,856,618 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1177,740,520 - 7,742,374 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0177,743,266 - 7,745,121 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0177,757,031 - 7,758,886 (+)NCBIUU_Cfam_GSD_1.0
Kcnf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629252,208,228 - 52,213,417 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365326,963,912 - 6,968,463 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3125,664,365 - 125,666,656 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13125,664,027 - 125,666,054 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23134,494,122 - 134,495,965 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KCNF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11496,695,647 - 96,698,931 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1496,695,961 - 96,697,445 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604515,586,797 - 15,590,329 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcnf1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248654,648,711 - 4,653,179 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCNF1
14 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p25.3-24.3(chr2:30141-14494040)x3 copy number gain See cases [RCV000052928] Chr2:30141..14494040 [GRCh38]
Chr2:30141..14634164 [GRCh37]
Chr2:20141..14551615 [NCBI36]
Chr2:2p25.3-24.3		 pathogenic
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1		 pathogenic
GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3 copy number gain See cases [RCV000052931] Chr2:30342..14866951 [GRCh38]
Chr2:30342..15007075 [GRCh37]
Chr2:20342..14924526 [NCBI36]
Chr2:2p25.3-24.3		 pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1		 pathogenic
GRCh38/hg38 2p25.1-24.3(chr2:10216779-13474790)x3 copy number gain See cases [RCV000052627] Chr2:10216779..13474790 [GRCh38]
Chr2:10356905..13614915 [GRCh37]
Chr2:10274356..13532366 [NCBI36]
Chr2:2p25.1-24.3		 uncertain significance
GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1 copy number loss See cases [RCV000053978] Chr2:6531172..16103799 [GRCh38]
Chr2:6671304..16243921 [GRCh37]
Chr2:6588755..16161372 [NCBI36]
Chr2:2p25.2-24.3		 pathogenic
NM_002236.5(KCNF1):c.248C>T (p.Pro83Leu) single nucleotide variant Malignant tumor of prostate [RCV000149127] Chr2:10912674 [GRCh38]
Chr2:11052800 [GRCh37]
Chr2:2p25.1		 uncertain significance
GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 copy number gain See cases [RCV000135398] Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2		 pathogenic
GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3 copy number gain See cases [RCV000137344] Chr2:17019..26318846 [GRCh38]
Chr2:17019..26541714 [GRCh37]
Chr2:7019..26395218 [NCBI36]
Chr2:2p25.3-23.3		 pathogenic
GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3 copy number gain See cases [RCV000137913] Chr2:1664615..23664142 [GRCh38]
Chr2:1668387..23887012 [GRCh37]
Chr2:1647394..23740517 [NCBI36]
Chr2:2p25.3-24.1		 pathogenic|likely pathogenic
GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3 copy number gain See cases [RCV000141226] Chr2:17019..20001056 [GRCh38]
Chr2:17019..20200817 [GRCh37]
Chr2:7019..20064298 [NCBI36]
Chr2:2p25.3-24.1		 pathogenic
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3		 pathogenic
GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3 copy number gain See cases [RCV000141877] Chr2:12770..25039694 [GRCh38]
Chr2:12770..25262563 [GRCh37]
Chr2:2770..25116067 [NCBI36]
Chr2:2p25.3-23.3		 pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2		 benign
GRCh38/hg38 2p25.1-24.3(chr2:10790663-14417134)x3 copy number gain See cases [RCV000142512] Chr2:10790663..14417134 [GRCh38]
Chr2:10930789..14557258 [GRCh37]
Chr2:10848240..14474709 [NCBI36]
Chr2:2p25.1-24.3		 pathogenic
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3 copy number gain See cases [RCV000510934] Chr2:12770..20081474 [GRCh37]
Chr2:2p25.3-24.1		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_002236.5(KCNF1):c.466G>A (p.Ala156Thr) single nucleotide variant Inborn genetic diseases [RCV003253802] Chr2:10912892 [GRCh38]
Chr2:11053018 [GRCh37]
Chr2:2p25.1		 uncertain significance
NM_002236.5(KCNF1):c.397G>A (p.Glu133Lys) single nucleotide variant Inborn genetic diseases [RCV003304228] Chr2:10912823 [GRCh38]
Chr2:11052949 [GRCh37]
Chr2:2p25.1		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_002236.5(KCNF1):c.213C>G (p.Asp71Glu) single nucleotide variant Esophageal atresia [RCV000984664] Chr2:10912639 [GRCh38]
Chr2:11052765 [GRCh37]
Chr2:2p25.1		 uncertain significance
GRCh37/hg19 2p25.1(chr2:10479046-11113701)x3 copy number gain not provided [RCV000849860] Chr2:10479046..11113701 [GRCh37]
Chr2:2p25.1		 uncertain significance
NM_002236.5(KCNF1):c.1188C>T (p.Ile396=) single nucleotide variant not provided [RCV001720419] Chr2:10913614 [GRCh38]
Chr2:11053740 [GRCh37]
Chr2:2p25.1		 benign
NM_002236.5(KCNF1):c.468A>G (p.Ala156=) single nucleotide variant not provided [RCV001709114] Chr2:10912894 [GRCh38]
Chr2:11053020 [GRCh37]
Chr2:2p25.1		 benign
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_002236.5(KCNF1):c.845T>C (p.Leu282Pro) single nucleotide variant Moyamoya angiopathy [RCV001261802] Chr2:10913271 [GRCh38]
Chr2:11053397 [GRCh37]
Chr2:2p25.1		 pathogenic|likely pathogenic
GRCh37/hg19 2p25.1(chr2:9717186-12013065)x1 copy number loss not provided [RCV001827895] Chr2:9717186..12013065 [GRCh37]
Chr2:2p25.1		 uncertain significance
GRCh37/hg19 2p25.1-24.3(chr2:8935077-15722794)x1 copy number loss not provided [RCV001836520] Chr2:8935077..15722794 [GRCh37]
Chr2:2p25.1-24.3		 uncertain significance
NM_002236.5(KCNF1):c.580G>A (p.Val194Ile) single nucleotide variant Inborn genetic diseases [RCV003286057] Chr2:10913006 [GRCh38]
Chr2:11053132 [GRCh37]
Chr2:2p25.1		 likely benign
GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3 copy number gain not provided [RCV002473946] Chr2:706460..35523639 [GRCh37]
Chr2:2p25.3-22.3		 pathogenic
NM_002236.5(KCNF1):c.45G>C (p.Gln15His) single nucleotide variant Inborn genetic diseases [RCV002774534] Chr2:10912471 [GRCh38]
Chr2:11052597 [GRCh37]
Chr2:2p25.1		 uncertain significance
NM_002236.5(KCNF1):c.538C>T (p.Pro180Ser) single nucleotide variant Inborn genetic diseases [RCV002788469] Chr2:10912964 [GRCh38]
Chr2:11053090 [GRCh37]
Chr2:2p25.1		 uncertain significance
NM_002236.5(KCNF1):c.1457A>G (p.His486Arg) single nucleotide variant Inborn genetic diseases [RCV002850200] Chr2:10913883 [GRCh38]
Chr2:11054009 [GRCh37]
Chr2:2p25.1		 uncertain significance
NM_002236.5(KCNF1):c.28C>T (p.Pro10Ser) single nucleotide variant Inborn genetic diseases [RCV003212322] Chr2:10912454 [GRCh38]
Chr2:11052580 [GRCh37]
Chr2:2p25.1		 uncertain significance
NM_002236.5(KCNF1):c.485G>A (p.Arg162His) single nucleotide variant Inborn genetic diseases [RCV003265456] Chr2:10912911 [GRCh38]
Chr2:11053037 [GRCh37]
Chr2:2p25.1		 uncertain significance
NM_002236.5(KCNF1):c.1330G>A (p.Gly444Ser) single nucleotide variant Inborn genetic diseases [RCV003384931] Chr2:10913756 [GRCh38]
Chr2:11053882 [GRCh37]
Chr2:2p25.1		 uncertain significance
GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3 copy number gain not specified [RCV003986320] Chr2:6375088..23538518 [GRCh37]
Chr2:2p25.2-24.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:344
Count of miRNA genes:302
Interacting mature miRNAs:322
Transcripts:ENST00000295082
Prediction methods:Miranda, Rnahybrid, Targetscan
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
D2S2129  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37211,054,198 - 11,054,345UniSTSGRCh37
Build 36210,971,649 - 10,971,796RGDNCBI36
Celera210,969,331 - 10,969,478RGD
Cytogenetic Map2p25UniSTS
HuRef210,905,294 - 10,905,441UniSTS
RH78053  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37211,054,031 - 11,054,168UniSTSGRCh37
Build 36210,971,482 - 10,971,619RGDNCBI36
Celera210,969,164 - 10,969,301RGD
Cytogenetic Map2p25UniSTS
HuRef210,905,127 - 10,905,264UniSTS
NCBI RH Map249.4UniSTS
A005K01  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37211,054,193 - 11,054,331UniSTSGRCh37
Build 36210,971,644 - 10,971,782RGDNCBI36
Celera210,969,326 - 10,969,464RGD
Cytogenetic Map2p25UniSTS
HuRef210,905,289 - 10,905,427UniSTS
GeneMap99-GB4 RH Map235.92UniSTS
RH79190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37211,054,148 - 11,054,279UniSTSGRCh37
Build 36210,971,599 - 10,971,730RGDNCBI36
Celera210,969,281 - 10,969,412RGD
Cytogenetic Map2p25UniSTS
HuRef210,905,244 - 10,905,375UniSTS
NCBI RH Map245.2UniSTS


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 2
Medium 452 13 9 2 9 19 442 1678 9 29 43 15
Low 1079 252 285 72 264 63 856 349 1869 200 631 438 18 77 599
Below cutoff 799 1643 1048 355 602 218 2462 1093 161 163 598 939 141 967 1429 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000295082   ⟹   ENSP00000295082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl210,911,934 - 10,914,225 (+)Ensembl
RefSeq Acc Id: NM_002236   ⟹   NP_002227
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38210,911,934 - 10,914,225 (+)NCBI
GRCh37211,052,063 - 11,054,351 (+)RGD
Build 36210,969,514 - 10,971,802 (+)NCBI Archive
Celera210,967,196 - 10,969,484 (+)RGD
HuRef210,903,225 - 10,905,447 (+)RGD
CHM1_1210,982,228 - 10,984,516 (+)NCBI
T2T-CHM13v2.0210,941,696 - 10,943,987 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_002227 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC05597 (Get FASTA)   NCBI Sequence Viewer  
  AAG43055 (Get FASTA)   NCBI Sequence Viewer  
  AAH26110 (Get FASTA)   NCBI Sequence Viewer  
  AAX81991 (Get FASTA)   NCBI Sequence Viewer  
  EAX00946 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000295082
  ENSP00000295082.1
GenBank Protein Q9H3M0 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_002227   ⟸   NM_002236
- UniProtKB: O43527 (UniProtKB/Swiss-Prot),   Q585L3 (UniProtKB/Swiss-Prot),   Q9H3M0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000295082   ⟸   ENST00000295082

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H3M0-F1-model_v2 AlphaFold Q9H3M0 1-494 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6246 AgrOrtholog
COSMIC KCNF1 COSMIC
Ensembl Genes ENSG00000162975 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000295082 ENTREZGENE
  ENST00000295082.3 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot
  1.20.120.350 UniProtKB/Swiss-Prot
GTEx ENSG00000162975 GTEx
HGNC ID HGNC:6246 ENTREZGENE
Human Proteome Map KCNF1 Human Proteome Map
InterPro Ion_trans_dom UniProtKB/Swiss-Prot
  K_chnl_volt-dep_Kv UniProtKB/Swiss-Prot
  K_chnl_volt-dep_Kv9 UniProtKB/Swiss-Prot
  KCNF1-like_BTB_POZ UniProtKB/Swiss-Prot
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot
  T1-type_BTB UniProtKB/Swiss-Prot
  Volt_channel_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:3754 UniProtKB/Swiss-Prot
NCBI Gene 3754 ENTREZGENE
OMIM 603787 OMIM
PANTHER POTASSIUM VOLTAGE-GATED CHANNEL SUBFAMILY F MEMBER 1 UniProtKB/Swiss-Prot
  PTHR11537 UniProtKB/Swiss-Prot
Pfam BTB_2 UniProtKB/Swiss-Prot
  Ion_trans UniProtKB/Swiss-Prot
PharmGKB PA30033 PharmGKB
PRINTS KCHANNEL UniProtKB/Swiss-Prot
  KV9CHANNEL UniProtKB/Swiss-Prot
  KVCHANNEL UniProtKB/Swiss-Prot
Superfamily-SCOP SSF54695 UniProtKB/Swiss-Prot
  Voltage-gated potassium channels UniProtKB/Swiss-Prot
UniProt KCNF1_HUMAN UniProtKB/Swiss-Prot
  O43527 ENTREZGENE
  Q585L3 ENTREZGENE
  Q9H3M0 ENTREZGENE
UniProt Secondary O43527 UniProtKB/Swiss-Prot
  Q585L3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNF1  potassium voltage-gated channel modifier subfamily F member 1  KCNF1  potassium channel, voltage gated modifier subfamily F, member 1  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNF1  potassium channel, voltage gated modifier subfamily F, member 1  KCNF1  potassium voltage-gated channel, subfamily F, member 1  Symbol and/or name change 5135510 APPROVED