UHMK1 (U2AF homology motif kinase 1) - Rat Genome Database

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Gene: UHMK1 (U2AF homology motif kinase 1) Homo sapiens
Analyze
Symbol: UHMK1
Name: U2AF homology motif kinase 1
RGD ID: 1344907
HGNC Page HGNC:19683
Description: Enables protein serine/threonine kinase activity. Involved in protein phosphorylation; regulation of cell cycle; and regulation of protein export from nucleus. Located in nuclear speck.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp434C1613; FLJ23015; kinase interacting with leukemia-associated gene (stathmin); KIS; KIS protein kinase; KIST; P-CIP2; PAM COOH-terminal interactor protein 2; serine/threonine-protein kinase Kist; U2AF homology motif (UHM) kinase 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381162,497,174 - 162,529,631 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1162,497,251 - 162,529,631 (+)EnsemblGRCh38hg38GRCh38
GRCh371162,466,964 - 162,499,421 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361160,734,279 - 160,760,468 (+)NCBINCBI36Build 36hg18NCBI36
Build 341159,199,312 - 159,225,502NCBI
Celera1135,570,007 - 135,602,458 (+)NCBICelera
Cytogenetic Map1q23.3NCBI
HuRef1133,712,524 - 133,744,495 (+)NCBIHuRef
CHM1_11163,889,473 - 163,921,905 (+)NCBICHM1_1
T2T-CHM13v2.01161,841,193 - 161,873,634 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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:10574929   PMID:12093740   PMID:12477932   PMID:12782393   PMID:15489334   PMID:16710414   PMID:16978587   PMID:17474147   PMID:17726090   PMID:17984092   PMID:18316326   PMID:18384876  
PMID:18414510   PMID:19322201   PMID:19747464   PMID:21399567   PMID:21873635   PMID:23419774   PMID:25458010   PMID:26420826   PMID:27424934   PMID:28514442   PMID:29307747   PMID:30929966  
PMID:30936457   PMID:31452512   PMID:31975428   PMID:32296183   PMID:32513696   PMID:32707033   PMID:33961781   PMID:35151311   PMID:35501324   PMID:36724073   PMID:36919755   PMID:38597390  


Genomics

Comparative Map Data
UHMK1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381162,497,174 - 162,529,631 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1162,497,251 - 162,529,631 (+)EnsemblGRCh38hg38GRCh38
GRCh371162,466,964 - 162,499,421 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361160,734,279 - 160,760,468 (+)NCBINCBI36Build 36hg18NCBI36
Build 341159,199,312 - 159,225,502NCBI
Celera1135,570,007 - 135,602,458 (+)NCBICelera
Cytogenetic Map1q23.3NCBI
HuRef1133,712,524 - 133,744,495 (+)NCBIHuRef
CHM1_11163,889,473 - 163,921,905 (+)NCBICHM1_1
T2T-CHM13v2.01161,841,193 - 161,873,634 (+)NCBIT2T-CHM13v2.0
Uhmk1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391170,020,989 - 170,043,466 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1170,020,989 - 170,042,966 (-)EnsemblGRCm39 Ensembl
GRCm381170,193,422 - 170,215,897 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1170,193,420 - 170,215,397 (-)EnsemblGRCm38mm10GRCm38
MGSCv371172,129,387 - 172,145,524 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361171,476,645 - 171,492,776 (-)NCBIMGSCv36mm8
MGSCv361172,035,931 - 172,052,068 (-)NCBIMGSCv36mm8
Celera1172,635,566 - 172,695,028 (-)NCBICelera
Cytogenetic Map1H3NCBI
cM Map176.84NCBI
Uhmk1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81384,929,418 - 84,949,194 (-)NCBIGRCr8
mRatBN7.21382,396,646 - 82,416,292 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1382,401,187 - 82,416,292 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1385,028,615 - 85,043,704 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01386,321,792 - 86,336,896 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01383,553,853 - 83,568,942 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01388,521,625 - 88,536,728 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1388,521,625 - 88,536,728 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01393,147,551 - 93,162,654 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41386,010,861 - 86,025,965 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11386,025,048 - 86,040,153 (-)NCBI
Celera1382,061,704 - 82,076,791 (-)NCBICelera
Cytogenetic Map13q24NCBI
Uhmk1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495546213,819,107 - 13,837,679 (-)NCBIChiLan1.0ChiLan1.0
UHMK1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2187,256,224 - 87,288,149 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1186,924,396 - 86,956,331 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01137,910,547 - 137,942,445 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11141,708,494 - 141,740,278 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1141,707,926 - 141,733,195 (+)Ensemblpanpan1.1panPan2
UHMK1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13820,247,564 - 20,277,941 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3820,190,375 - 20,277,923 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3820,302,710 - 20,333,108 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03820,331,629 - 20,362,026 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3820,329,369 - 20,362,032 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13820,305,784 - 20,336,168 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03820,658,595 - 20,689,128 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03820,954,711 - 20,979,702 (-)NCBIUU_Cfam_GSD_1.0
Uhmk1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244050588,365,040 - 8,386,074 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936831680,867 - 695,328 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936831680,929 - 701,804 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UHMK1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl488,029,339 - 88,052,937 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1488,029,332 - 88,052,935 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2495,987,526 - 95,990,936 (-)NCBISscrofa10.2Sscrofa10.2susScr3
UHMK1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1201,564,205 - 1,594,841 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl201,571,266 - 1,594,953 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038585,417 - 616,609 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Uhmk1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624826941,190 - 962,466 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624826941,200 - 966,470 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in UHMK1
16 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1 copy number loss See cases [RCV000051172] Chr1:159479887..166895086 [GRCh38]
Chr1:159449677..166864323 [GRCh37]
Chr1:157716301..165130947 [NCBI36]
Chr1:1q23.2-24.1		 pathogenic
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 copy number gain See cases [RCV000051854] Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1		 pathogenic
GRCh38/hg38 1q23.3-24.2(chr1:160789732-168617494)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|See cases [RCV000053913] Chr1:160789732..168617494 [GRCh38]
Chr1:160759522..168586732 [GRCh37]
Chr1:159026146..166853356 [NCBI36]
Chr1:1q23.3-24.2		 pathogenic
GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1 copy number loss See cases [RCV000053914] Chr1:161740907..173965154 [GRCh38]
Chr1:161710697..173934292 [GRCh37]
Chr1:159977321..172200915 [NCBI36]
Chr1:1q23.3-25.1		 pathogenic
GRCh38/hg38 1q23.3-24.2(chr1:162040050-167480663)x1 copy number loss See cases [RCV000053915] Chr1:162040050..167480663 [GRCh38]
Chr1:162009840..167449900 [GRCh37]
Chr1:160276464..165716524 [NCBI36]
Chr1:1q23.3-24.2		 pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2		 pathogenic
NM_175866.5(UHMK1):c.1214C>T (p.Pro405Leu) single nucleotide variant Cerebral visual impairment and intellectual disability [RCV000210385] Chr1:162522504 [GRCh38]
Chr1:162492294 [GRCh37]
Chr1:1q23.3		 likely pathogenic
GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 copy number loss See cases [RCV000447098] Chr1:161676893..184071723 [GRCh37]
Chr1:1q23.3-25.3		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325) copy number loss not provided [RCV000767779] Chr1:160369890..175796325 [GRCh37]
Chr1:1q23.2-25.1		 pathogenic
GRCh37/hg19 1q23.3(chr1:161469309-162517412)x3 copy number gain not provided [RCV000684667] Chr1:161469309..162517412 [GRCh37]
Chr1:1q23.3		 uncertain significance
GRCh37/hg19 1q23.3(chr1:162315980-162997340)x3 copy number gain not provided [RCV000684669] Chr1:162315980..162997340 [GRCh37]
Chr1:1q23.3		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1 copy number loss not provided [RCV000736717] Chr1:159815642..177026983 [GRCh37]
Chr1:1q23.2-25.2		 pathogenic
GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3 copy number gain not provided [RCV000849025] Chr1:160744174..162583871 [GRCh37]
Chr1:1q23.3		 uncertain significance
GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1 copy number loss not provided [RCV000848773] Chr1:157321299..167391423 [GRCh37]
Chr1:1q23.1-24.2		 pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042) copy number loss not specified [RCV002053658] Chr1:160417296..166197042 [GRCh37]
Chr1:1q23.2-24.1		 pathogenic
GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331) copy number loss not specified [RCV002053680] Chr1:162330810..171532331 [GRCh37]
Chr1:1q23.3-24.3		 pathogenic
NC_000001.10:g.(?_158581054)_(162750036_?)dup duplication Autoimmune interstitial lung disease-arthritis syndrome [RCV001918952]|not provided [RCV001918953] Chr1:158581054..162750036 [GRCh37]
Chr1:1q23.1-23.3		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 1q23.3(chr1:161924068-164761399)x1 copy number loss not provided [RCV002474557] Chr1:161924068..164761399 [GRCh37]
Chr1:1q23.3		 likely pathogenic
NM_175866.5(UHMK1):c.14G>C (p.Gly5Ala) single nucleotide variant not specified [RCV004141486] Chr1:162498014 [GRCh38]
Chr1:162467804 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_175866.5(UHMK1):c.1130C>T (p.Ala377Val) single nucleotide variant not specified [RCV004149390] Chr1:162522420 [GRCh38]
Chr1:162492210 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_175866.5(UHMK1):c.385G>C (p.Gly129Arg) single nucleotide variant not specified [RCV004177253] Chr1:162500071 [GRCh38]
Chr1:162469861 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_175866.5(UHMK1):c.860A>G (p.Asp287Gly) single nucleotide variant not specified [RCV004093491] Chr1:162512511 [GRCh38]
Chr1:162482301 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_175866.5(UHMK1):c.250C>G (p.Gln84Glu) single nucleotide variant not specified [RCV004164053] Chr1:162498250 [GRCh38]
Chr1:162468040 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_175866.5(UHMK1):c.191C>T (p.Ala64Val) single nucleotide variant not specified [RCV004203428] Chr1:162498191 [GRCh38]
Chr1:162467981 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_175866.5(UHMK1):c.223A>G (p.Lys75Glu) single nucleotide variant not specified [RCV004104951] Chr1:162498223 [GRCh38]
Chr1:162468013 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_175866.5(UHMK1):c.691A>G (p.Ile231Val) single nucleotide variant not specified [RCV004263250] Chr1:162501042 [GRCh38]
Chr1:162470832 [GRCh37]
Chr1:1q23.3		 uncertain significance
GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1 copy number loss not provided [RCV003483944] Chr1:158001058..162858285 [GRCh37]
Chr1:1q23.1-23.3		 likely pathogenic
NM_175866.5(UHMK1):c.594G>C (p.Arg198=) single nucleotide variant not provided [RCV003409215] Chr1:162500945 [GRCh38]
Chr1:162470735 [GRCh37]
Chr1:1q23.3		 likely benign
NM_175866.5(UHMK1):c.829C>A (p.Leu277Ile) single nucleotide variant not specified [RCV004479661] Chr1:162503829 [GRCh38]
Chr1:162473619 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_175866.5(UHMK1):c.737G>T (p.Arg246Ile) single nucleotide variant not specified [RCV004479660] Chr1:162501088 [GRCh38]
Chr1:162470878 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_175866.5(UHMK1):c.475C>G (p.Leu159Val) single nucleotide variant not specified [RCV004479658] Chr1:162500161 [GRCh38]
Chr1:162469951 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_175866.5(UHMK1):c.157C>T (p.Leu53Phe) single nucleotide variant not specified [RCV004479657] Chr1:162498157 [GRCh38]
Chr1:162467947 [GRCh37]
Chr1:1q23.3		 uncertain significance
NM_175866.5(UHMK1):c.1199T>C (p.Val400Ala) single nucleotide variant not specified [RCV004479656] Chr1:162522489 [GRCh38]
Chr1:162492279 [GRCh37]
Chr1:1q23.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6077
Count of miRNA genes:1109
Interacting mature miRNAs:1361
Transcripts:ENST00000282169, ENST00000489294, ENST00000538489, ENST00000545294
Prediction methods:Microtar, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1357381BW57_HBody weight QTL 57 (human)10.0001Body weightfat free mass after exercise training1140630236166630236Human
406982947GWAS631923_Hcervical carcinoma QTL GWAS631923 (human)0.000009cervical carcinoma1162498796162498797Human
407153702GWAS802678_Hgut microbiome measurement QTL GWAS802678 (human)0.000006gut microbiome measurement1162510355162510356Human
406939719GWAS588695_Hbody mass index QTL GWAS588695 (human)1e-08body mass indexbody mass index (BMI) (CMO:0000105)1162512576162512577Human

Markers in Region
RH98846  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371162,499,168 - 162,499,311UniSTSGRCh37
Build 361160,765,792 - 160,765,935RGDNCBI36
Celera1135,602,207 - 135,602,350RGD
Cytogenetic Map1q23.3UniSTS
HuRef1133,744,244 - 133,744,387UniSTS
G20662  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372185,744,309 - 185,744,427UniSTSGRCh37
GRCh371162,499,104 - 162,499,226UniSTSGRCh37
Build 361160,765,728 - 160,765,850RGDNCBI36
Celera2179,340,057 - 179,340,175UniSTS
Celera1135,602,143 - 135,602,265RGD
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2q32.1UniSTS
HuRef2177,603,981 - 177,604,099UniSTS
HuRef1133,744,180 - 133,744,302UniSTS
A006A40  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372185,744,309 - 185,744,427UniSTSGRCh37
GRCh371162,499,104 - 162,499,226UniSTSGRCh37
Build 361160,765,728 - 160,765,850RGDNCBI36
Celera1135,602,143 - 135,602,265RGD
Celera2179,340,057 - 179,340,175UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map1q23.3UniSTS
HuRef2177,603,981 - 177,604,099UniSTS
HuRef1133,744,180 - 133,744,302UniSTS
GeneMap99-GB4 RH Map1591.79UniSTS
RH68936  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371162,493,568 - 162,493,720UniSTSGRCh37
Build 361160,760,192 - 160,760,344RGDNCBI36
Celera1135,596,608 - 135,596,760RGD
Cytogenetic Map1q23.3UniSTS
HuRef1133,738,645 - 133,738,797UniSTS
GeneMap99-GB4 RH Map1576.06UniSTS
RH64673  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371162,492,897 - 162,493,077UniSTSGRCh37
Build 361160,759,521 - 160,759,701RGDNCBI36
Celera1135,595,937 - 135,596,117RGD
Cytogenetic Map1q23.3UniSTS
HuRef1133,737,974 - 133,738,154UniSTS
GeneMap99-GB4 RH Map1591.89UniSTS
NCBI RH Map11444.7UniSTS
D2S2902  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371162,499,235 - 162,499,373UniSTSGRCh37
Build 361160,765,859 - 160,765,997RGDNCBI36
Celera1135,602,274 - 135,602,412RGD
Cytogenetic Map1q23.3UniSTS
HuRef1133,744,311 - 133,744,449UniSTS
KIS_3707  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371162,492,797 - 162,493,616UniSTSGRCh37
Build 361160,759,421 - 160,760,240RGDNCBI36
Celera1135,595,837 - 135,596,656RGD
HuRef1133,737,874 - 133,738,693UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_050728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001184763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_144624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_175866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AJ536197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK058195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS300608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000282169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,498,085 - 162,524,054 (+)Ensembl
Ensembl Acc Id: ENST00000489294   ⟹   ENSP00000420270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,497,818 - 162,529,631 (+)Ensembl
Ensembl Acc Id: ENST00000538489   ⟹   ENSP00000446416
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,497,805 - 162,529,629 (+)Ensembl
Ensembl Acc Id: ENST00000545294   ⟹   ENSP00000441226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,497,251 - 162,529,629 (+)Ensembl
RefSeq Acc Id: NM_001184763   ⟹   NP_001171692
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,497,174 - 162,529,629 (+)NCBI
GRCh371162,466,964 - 162,499,419 (+)ENTREZGENE
HuRef1133,712,524 - 133,744,495 (+)ENTREZGENE
CHM1_11163,889,473 - 163,921,905 (+)NCBI
T2T-CHM13v2.01161,841,193 - 161,873,632 (+)NCBI
Sequence:
RefSeq Acc Id: NM_144624   ⟹   NP_653225
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,497,805 - 162,529,629 (+)NCBI
GRCh371162,466,964 - 162,499,419 (+)ENTREZGENE
HuRef1133,712,524 - 133,744,495 (+)ENTREZGENE
CHM1_11163,890,104 - 163,921,905 (+)NCBI
T2T-CHM13v2.01161,841,825 - 161,873,632 (+)NCBI
Sequence:
RefSeq Acc Id: NM_175866   ⟹   NP_787062
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,497,818 - 162,529,631 (+)NCBI
GRCh371162,466,964 - 162,499,419 (+)ENTREZGENE
Build 361160,734,279 - 160,760,468 (+)NCBI Archive
HuRef1133,712,524 - 133,744,495 (+)ENTREZGENE
CHM1_11163,890,104 - 163,921,905 (+)NCBI
T2T-CHM13v2.01161,841,838 - 161,873,634 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001171692   ⟸   NM_001184763
- Peptide Label: isoform 2
- UniProtKB: Q5JPA7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_787062   ⟸   NM_175866
- Peptide Label: isoform 1
- UniProtKB: G3V1M1 (UniProtKB/Swiss-Prot),   A8K8K4 (UniProtKB/Swiss-Prot),   A0A0A6YYC2 (UniProtKB/Swiss-Prot),   Q96C22 (UniProtKB/Swiss-Prot),   Q8TAS1 (UniProtKB/Swiss-Prot),   Q5JPA7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_653225   ⟸   NM_144624
- Peptide Label: isoform 3
- UniProtKB: Q5JPA7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000441226   ⟸   ENST00000545294
Ensembl Acc Id: ENSP00000446416   ⟸   ENST00000538489
Ensembl Acc Id: ENSP00000420270   ⟸   ENST00000489294
Protein Domains
Protein kinase   RRM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TAS1-F1-model_v2 AlphaFold Q8TAS1 1-419 view protein structure

Promoters
RGD ID:6787176
Promoter ID:HG_KWN:5906
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000392154,   NM_144624,   NM_175866,   OTTHUMT00000076789
Position:
Human AssemblyChrPosition (strand)Source
Build 361160,734,146 - 160,734,646 (+)MPROMDB
RGD ID:6857932
Promoter ID:EPDNEW_H2131
Type:initiation region
Name:UHMK1_1
Description:U2AF homology motif kinase 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
GRCh381162,497,846 - 162,497,906EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19683 AgrOrtholog
COSMIC UHMK1 COSMIC
Ensembl Genes ENSG00000152332 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000489294 ENTREZGENE
  ENST00000489294.2 UniProtKB/Swiss-Prot
  ENST00000538489 ENTREZGENE
  ENST00000538489.5 UniProtKB/Swiss-Prot
  ENST00000545294 ENTREZGENE
  ENST00000545294.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.70.330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000152332 GTEx
HGNC ID HGNC:19683 ENTREZGENE
Human Proteome Map UHMK1 Human Proteome Map
InterPro Kinase-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UHMK1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:127933 UniProtKB/Swiss-Prot
NCBI Gene 127933 ENTREZGENE
OMIM 608849 OMIM
PANTHER PTHR46962 UniProtKB/Swiss-Prot
  SERINE/THREONINE-PROTEIN KINASE KIST UniProtKB/Swiss-Prot
  SERINE/THREONINE-PROTEIN KINASE KIST UniProtKB/TrEMBL
  SERINE/THREONINE-PROTEIN KINASE KIST UniProtKB/TrEMBL
Pfam Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134974001 PharmGKB
PROSITE PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Kinase_like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA-binding domain, RBD UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt A0A0A6YYC2 ENTREZGENE
  A8K8K4 ENTREZGENE
  G3V1M1 ENTREZGENE
  Q5JPA7 ENTREZGENE, UniProtKB/TrEMBL
  Q8TAS1 ENTREZGENE
  Q96C22 ENTREZGENE
  UHMK1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A0A0A6YYC2 UniProtKB/Swiss-Prot
  A8K8K4 UniProtKB/Swiss-Prot
  G3V1M1 UniProtKB/Swiss-Prot
  Q96C22 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-08-23 UHMK1  U2AF homology motif kinase 1    U2AF homology motif (UHM) kinase 1  Symbol and/or name change 5135510 APPROVED