CMPK1 (cytidine/uridine monophosphate kinase 1)

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Gene: CMPK1 (cytidine/uridine monophosphate kinase 1) Homo sapiens

Analyze

Symbol:

CMPK1

Name:

cytidine/uridine monophosphate kinase 1

RGD ID:

1604360

HGNC Page

HGNC:18170

Description:

Enables UMP kinase activity and nucleoside diphosphate kinase activity. Involved in UDP biosynthetic process; nucleoside diphosphate phosphorylation; and nucleoside triphosphate biosynthetic process. Located in nucleolus and nucleoplasm. Implicated in lung non-small cell carcinoma.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

CK; CMK; CMPK; cytidine monophosphate (UMP-CMP) kinase 1, cytosolic; cytidylate kinase; dCMP kinase; deoxycytidylate kinase; nucleoside-diphosphate kinase; RP11-511I2.1; UMK; UMP-CMP kinase; UMP-CMPK; UMP/CMP kinase; UMP/CMPK; UMPK; uridine monophosphate kinase; uridine monophosphate/cytidine monophosphate kinase

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Cmpk1 (cytidine monophosphate (UMP-CMP) kinase 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Cmpk1 (cytidine/uridine monophosphate kinase 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Cmpk1 (cytidine/uridine monophosphate kinase 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	CMPK1 (cytidine/uridine monophosphate kinase 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	CMPK1 (cytidine/uridine monophosphate kinase 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Cmpk1 (cytidine/uridine monophosphate kinase 1)	NCBI	Ortholog
Sus scrofa (pig):	CMPK1 (cytidine/uridine monophosphate kinase 1)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	CMPK1 (cytidine/uridine monophosphate kinase 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Cmpk1 (cytidine/uridine monophosphate kinase 1)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Cmpk1 (cytidine/uridine monophosphate kinase 1)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Cmpk1 (cytidine monophosphate (UMP-CMP) kinase 1)	Alliance	DIOPT (HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	cmpk (cytidylate kinase)	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	URA6	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Caenorhabditis elegans (roundworm):	C29F7.3	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Dak1	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	F40F8.1	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)

Related Pseudogenes:

AC092120.2

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	47,333,790 - 47,378,839 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	1	47,333,790 - 47,394,866 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	47,799,462 - 47,844,511 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	47,572,175 - 47,617,098 (+)	NCBI	NCBI36		hg18	NCBI36
Celera	1	46,085,741 - 46,130,781 (+)	NCBI
Cytogenetic Map	1	p33	NCBI
HuRef	1	45,915,968 - 45,960,944 (+)	NCBI		HuRef
CHM1_1	1	47,916,317 - 47,961,359 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	47,212,232 - 47,257,303 (+)	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

lung non-small cell carcinoma (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

2,2',4,4'-Tetrabromodiphenyl ether (EXP)

2,3',4,4',5-Pentachlorobiphenyl (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,4,6-tribromophenol (EXP)

2-methylcholine (EXP)

3,3',5,5'-tetrabromobisphenol A (EXP)

5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole (ISO)

6-propyl-2-thiouracil (ISO)

aflatoxin B1 (EXP)

aflatoxin M1 (EXP)

all-trans-retinoic acid (EXP)

amiodarone (ISO)

aristolochic acid (EXP)

benzbromarone (ISO)

benzo[a]pyrene (EXP)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (EXP,ISO)

carbon nanotube (ISO)

cidofovir anhydrous (EXP)

clofibrate (ISO)

dicrotophos (EXP)

fenthion (ISO)

folic acid (ISO)

gentamycin (ISO)

ivermectin (EXP)

L-ethionine (ISO)

lead(0) (EXP)

lead(2+) (EXP)

methidathion (ISO)

ochratoxin A (ISO)

omeprazole (ISO)

paracetamol (EXP,ISO)

phenytoin (ISO)

pirinixic acid (ISO)

sodium arsenite (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

trichloroethene (ISO)

tungsten (ISO)

urethane (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

'de novo' pyrimidine nucleobase biosynthetic process (IEA)

CDP biosynthetic process (IBA,ISO)

dCDP biosynthetic process (ISO)

dUDP biosynthetic process (ISO)

nucleobase-containing compound metabolic process (IEA)

nucleobase-containing small molecule interconversion (TAS)

nucleoside diphosphate phosphorylation (IDA,IEA)

nucleoside monophosphate metabolic process (IEA)

nucleoside monophosphate phosphorylation (IEA)

nucleoside triphosphate biosynthetic process (IDA)

nucleotide metabolic process (IEA)

ovulation cycle process (ISO)

phosphorylation (IEA)

phthalate metabolic process (ISO)

pyrimidine nucleotide biosynthetic process (IEA)

pyrimidine ribonucleotide biosynthetic process (TAS)

pyrimidine-containing compound biosynthetic process (IEA)

UDP biosynthetic process (IBA,IDA,ISO)

UMP biosynthetic process (IEA)

Cellular Component

cytoplasm (IBA,IEA,TAS)

cytosol (TAS)

extracellular exosome (HDA)

nucleolus (IDA)

nucleoplasm (IDA)

nucleus (IBA,IEA,TAS)

Molecular Function

ATP binding (IEA)

CMP kinase activity (IEA,ISO)

cytidylate kinase activity (IBA,IEA)

dCMP kinase activity (IEA)

kinase activity (IEA)

nucleobase-containing compound kinase activity (IEA)

nucleoside diphosphate kinase activity (IDA,IEA)

nucleoside monophosphate kinase activity (EXP)

nucleotide binding (IEA)

phosphotransferase activity, phosphate group as acceptor (IEA)

protein binding (IPI)

transferase activity (IEA)

UMP kinase activity (IBA,IDA,IEA)

uridine kinase activity (TAS)

uridylate kinase activity (IEA,ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

de novo pyrimidine biosynthetic pathway (TAS)

gemcitabine pharmacodynamics pathway (EXP)

gemcitabine pharmacokinetics pathway (EXP)

Glut1 deficiency syndrome pathway (EXP)

lactose biosynthetic pathway (EXP)

lamivudine pharmacokinetics pathway (EXP)

pyrimidine metabolic pathway (IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	Endocrine disrupting effect of di-(2-ethylhexyl)phthalate on female rats and proteome analyses of their pituitaries.	Hirosawa N, etal., Proteomics. 2006 Feb;6(3):958-71.
2.	De novo synthesis of pyrimidine nucleotides; emerging interfaces with signal transduction pathways.	Huang M and Graves LM, Cell Mol Life Sci. 2003 Feb;60(2):321-36.
3.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
4.	SMPDB Annotation Import Pipeline	Pipeline to import SMPDB annotations from SMPDB into RGD
5.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
6.	Differential Effect of Polymorphisms of CMPK1 and RRM1 on Survival in Advanced Non-small Cell Lung Cancer Patients Treated with Gemcitabine or Taxane/Cisplatinum.	Ryu JS, etal., J Thorac Oncol. 2011 Jun 2.
7.	Up-regulated uridine kinase gene identified by RLCS in the ventral horn after crush injury to rat sciatic nerves.	Yuh I, etal., Biochem Biophys Res Commun 1999 Dec 9;266(1):104-9.

Additional References at PubMed

PMID:40615	PMID:172293	PMID:220950	PMID:1286669	PMID:8125298	PMID:8313870	PMID:10462544	PMID:10931946	PMID:11453085	PMID:11681623	PMID:11912132	PMID:12477932
PMID:12694191	PMID:15163660	PMID:15489334	PMID:15550676	PMID:15606899	PMID:16710414	PMID:17608725	PMID:19056867	PMID:19322201	PMID:19568409	PMID:21559290	PMID:21873635
PMID:22658674	PMID:22838950	PMID:23376485	PMID:23416111	PMID:23533145	PMID:24963161	PMID:25659034	PMID:26186194	PMID:26344197	PMID:27558661	PMID:27576135	PMID:28380382
PMID:28414100	PMID:28514442	PMID:29117863	PMID:30110629	PMID:30463901	PMID:30575818	PMID:31091453	PMID:31201869	PMID:31478661	PMID:31536960	PMID:31586073	PMID:31871319
PMID:31980649	PMID:32296183	PMID:32344865	PMID:32416067	PMID:33545068	PMID:33961781	PMID:34079125	PMID:34373451	PMID:34709727	PMID:34732716

Genomics

Comparative Map Data

CMPK1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	47,333,790 - 47,378,839 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	1	47,333,790 - 47,394,866 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	47,799,462 - 47,844,511 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	47,572,175 - 47,617,098 (+)	NCBI	NCBI36		hg18	NCBI36
Celera	1	46,085,741 - 46,130,781 (+)	NCBI
Cytogenetic Map	1	p33	NCBI
HuRef	1	45,915,968 - 45,960,944 (+)	NCBI		HuRef
CHM1_1	1	47,916,317 - 47,961,359 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	47,212,232 - 47,257,303 (+)	NCBI

Cmpk1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	114,817,810 - 114,844,425 (-)	NCBI	GRCm39		mm39
GRCm39 Ensembl	4	114,816,533 - 114,844,438 (-)	Ensembl
GRCm38	4	114,960,613 - 114,987,228 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	114,959,336 - 114,987,241 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	114,633,218 - 114,659,833 (-)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	4	114,458,570 - 114,485,076 (-)	NCBI			mm8
Celera	4	113,708,548 - 113,734,653 (-)	NCBI		Celera
Cytogenetic Map	4	D1	NCBI

Cmpk1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	5	128,480,301 - 128,507,830 (-)	NCBI	mRatBN7.2
mRatBN7.2 Ensembl	5	128,480,301 - 128,507,830 (-)	Ensembl
Rnor_6.0	5	133,759,722 - 133,786,452 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	133,759,735 - 133,786,452 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	137,551,825 - 137,578,247 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	135,320,845 - 135,348,973 (-)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	5	135,326,070 - 135,354,120 (-)	NCBI
Celera	5	127,132,281 - 127,159,748 (-)	NCBI		Celera
Cytogenetic Map	5	q35	NCBI

Cmpk1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0	NW_004955464	11,179,432 - 11,213,147 (-)	NCBI	ChiLan1.0	ChiLan1.0

CMPK1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	1	48,156,641 - 48,186,778 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
Mhudiblu_PPA_v0	1	46,642,602 - 46,673,568 (+)	NCBI	Mhudiblu_PPA_v0		panPan3

CMPK1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	15	13,324,235 - 13,357,387 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	15	13,326,185 - 13,358,152 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	15	13,476,565 - 13,509,755 (-)	NCBI
ROS_Cfam_1.0	15	13,473,206 - 13,506,434 (-)	NCBI
ROS_Cfam_1.0 Ensembl	15	13,456,379 - 13,506,417 (-)	Ensembl
UMICH_Zoey_3.1	15	13,273,274 - 13,306,477 (-)	NCBI
UNSW_CanFamBas_1.0	15	13,341,002 - 13,374,200 (-)	NCBI
UU_Cfam_GSD_1.0	15	13,410,462 - 13,443,720 (-)	NCBI

Cmpk1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405058	62,322,681 - 62,355,997 (+)	NCBI
SpeTri2.0	NW_004936474	28,147,459 - 28,180,779 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CMPK1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	164,162,518 - 164,197,379 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	164,161,439 - 164,197,429 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	151,714,202 - 151,748,280 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CMPK1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	20	85,541,796 - 85,584,167 (-)	NCBI	ChlSab1.1		chlSab2
ChlSab1.1 Ensembl	20	85,541,205 - 85,584,068 (-)	Ensembl	ChlSab1.1		chlSab2
Vero_WHO_p1.0	NW_023666033	31,498,081 - 31,540,968 (+)	NCBI	Vero_WHO_p1.0

Cmpk1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624859	5,452,694 - 5,495,840 (-)	NCBI	HetGla_female_1.0		hetGla2

Position Markers

RH69525

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	35,735,695 - 35,735,805	UniSTS	GRCh37
GRCh37	1	47,843,406 - 47,843,515	UniSTS	GRCh37
Build 36	1	47,615,993 - 47,616,102	RGD	NCBI36
Celera	1	46,129,676 - 46,129,785	RGD
Celera	6	37,290,278 - 37,290,388	UniSTS
Cytogenetic Map	1	p32	UniSTS
HuRef	1	45,959,839 - 45,959,948	UniSTS
HuRef	6	35,453,428 - 35,453,538	UniSTS

AL033960

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	47,804,528 - 47,804,608	UniSTS	GRCh37
Build 36	1	47,577,115 - 47,577,195	RGD	NCBI36
Celera	1	46,090,800 - 46,090,880	RGD
Cytogenetic Map	1	p32	UniSTS
HuRef	1	45,920,982 - 45,921,062	UniSTS

D1S2073E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	47,841,525 - 47,841,615	UniSTS	GRCh37
Build 36	1	47,614,112 - 47,614,202	RGD	NCBI36
Celera	1	46,127,795 - 46,127,885	RGD
Cytogenetic Map	1	p32	UniSTS
HuRef	1	45,957,958 - 45,958,048	UniSTS

SHGC-132626

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	47,843,775 - 47,844,088	UniSTS	GRCh37
Build 36	1	47,616,362 - 47,616,675	RGD	NCBI36
Celera	1	46,130,045 - 46,130,358	RGD
Cytogenetic Map	1	p32	UniSTS
HuRef	1	45,960,208 - 45,960,521	UniSTS
TNG Radiation Hybrid Map	1	26349.0	UniSTS

SHGC-36697

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	47,843,774 - 47,843,902	UniSTS	GRCh37
Build 36	1	47,616,361 - 47,616,489	RGD	NCBI36
Celera	1	46,130,044 - 46,130,172	RGD
Cytogenetic Map	1	p32	UniSTS
HuRef	1	45,960,207 - 45,960,335	UniSTS
GeneMap99-G3 RH Map	1	2377.0	UniSTS

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1488
Count of miRNA genes:	753
Interacting mature miRNAs:	870
Transcripts:	ENST00000371870, ENST00000371871, ENST00000371873, ENST00000450808, ENST00000471289
Prediction methods:	Microtar, 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.

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

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

2439

2586

1724

624

1618

465

4357

2125

3724

415

1430

1613

175

1204

2788

Low

405

333

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001136140	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001366135	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_016308	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_046394	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_046395	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF070416	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF087865	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF110643	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF112216	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF259961	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK025258	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK027204	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK223014	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK293238	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK294294	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK298502	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK312693	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL513322	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL607122	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC014961	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC017806	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471059	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB494965	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000371870

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	1	47,333,941 - 47,373,443 (+)	Ensembl

RefSeq Acc Id:

ENST00000371871 ⟹ ENSP00000360937

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	1	47,333,809 - 47,377,210 (+)	Ensembl

RefSeq Acc Id:

ENST00000371873 ⟹ ENSP00000360939

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	1	47,333,790 - 47,378,839 (+)	Ensembl

RefSeq Acc Id:

ENST00000450808 ⟹ ENSP00000398192

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	1	47,333,914 - 47,377,123 (+)	Ensembl

RefSeq Acc Id:

ENST00000471289 ⟹ ENSP00000433782

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	1	47,333,879 - 47,358,875 (+)	Ensembl

RefSeq Acc Id:

ENST00000699074 ⟹ ENSP00000514113

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	1	47,333,870 - 47,394,866 (+)	Ensembl

RefSeq Acc Id:

ENST00000699075 ⟹ ENSP00000514114

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	1	47,333,914 - 47,378,839 (+)	Ensembl

RefSeq Acc Id:

NM_001136140 ⟹ NP_001129612

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	47,333,790 - 47,378,839 (+)	NCBI
GRCh37	1	47,799,469 - 47,844,511 (+)	ENTREZGENE
HuRef	1	45,915,968 - 45,960,944 (+)	ENTREZGENE
CHM1_1	1	47,916,317 - 47,961,359 (+)	NCBI
T2T-CHM13v2.0	1	47,212,232 - 47,257,303 (+)	NCBI

Sequence:

show sequence

CCCTTCCGACAGGGCCGCGGACGCCCGGGCAGCCACGGCGGCGGGGCCGCGGCGGGCGCCGGCT
CAGCCCGCCCCTTTCTCCCGCCGCCTCCCCGCCCCGCCCCGCGCCGCGCCGGCCGCTGTCAGCT
CCCTCAGCGTCCGGCCGAGGCGCGGTGTATGCTGAGCCGCTGCCGCAGCGGGCTGCTCCACGTC
CTGGGCCTTAGCTTCCTGCTGCAGACCCGCCGGCCGATTCTCCTCTGCTCTCCACGTCTCATGA
AGCCGCTGGTCGTGTTCGTCCTCGGCGGCCCCGGCGCCGGCAAGGGGACCCAGTGCGCCCGCAT
CGTCGAGGAAATGGATCAGACAATGGCTGCCAATGCTCAGAAGAATAAATTCTTGATTGATGGG
TTTCCAAGAAATCAAGACAACCTTCAAGGATGGAACAAGACCATGGATGGGAAGGCAGATGTAT
CTTTCGTTCTCTTTTTTGACTGTAATAATGAGATTTGTATTGAACGATGTCTTGAGAGGGGAAA
GAGTAGTGGTAGGAGTGATGACAACAGAGAGAGCTTGGAAAAGAGAATTCAGACCTACCTTCAG
TCAACAAAGCCAATTATTGACTTATATGAAGAAATGGGGAAAGTCAAGAAAATAGATGCTTCTA
AATCTGTTGATGAAGTTTTTGATGAAGTTGTGCAGATTTTTGACAAGGAAGGCTAATTCTAAAC
CTGAAGGCATCCTTGAAATCATGCTTGAATATTGCTTTGATAGCTGCTATCATGACCCCTTTTT
AAGGCAATTCTAATCTTTCATAACTACATCTCAATTAGTGGCTGGAAAGTACATGGTAAAACAA
AGTAAATTTTTTTATGTTCTTTTTTTTGGTCACAGGAGTAGACAGTGAATTCAGGTTTAACTTC
ACCTTAGTTATGGTGCTCACCAAACGAAGGGTATCAGCTATTTTTTTTAAAATTCAAAAAGAAT
ATCCCTTTTATAGTTTGTGCCTTCTGTGAGCAAAACTTTTTAGTACGCGTATATATCCCTCTAG
TAATCACAACATTTTAGGATTTAGGGATACCCGCTTCCTCTTTTTCTTGCAAGTTTTAAATTTC
CAACCTTAAGTGAATTTGTGGACCAAATTTCAAAGGAACTTTTTGTGTAGTCAGTTCTTGCACA
ATGTGTTTGGTAAACAAACTCAAAATGGATTCTTAGGAGCATTTTAGTGTTTATTAAATAACTG
ACCATTTGCTGTAGAAAGATGAGAAAACTTAAGCTTTGTTTTACTACAACTTGTACAAAGTTGT
ATGACAGGGCATATTCTTTGCTTCCAAGATTTGGGTTGGGGGCACTAGGGGTTCAGAGCCTGGC
AGAATTGTCAGCTTTAGTCTGACATAATCTAAGGGTATGGGGCAAGGATCACATCTAATGCTTG
TGTTCCTTATACTCTATTATATAGTGTTATTCATGATTCAGCTGATCTTAACAAAATTCGTAGC
AGTGGAACCTTGAAATGCATGTGGCTAGATTTATGCTAAAATGATTCTCAGTTAGCATTTTAGT
AACACTTCAAAGGTTTTTTTTTGTTTGTTTTCTAGACTTAATAAAAGCTTAGGATTAATTAGAA
GAAGCAATCTAGTTAAATTTCCCATTTGTATTTTATTTTCTTGAATACTTTTTTCATAGTTATT
TGTTTAAAAAGATTTAAAAATCATTGCACTTTGGTCAGAAAAATAATAAATATATCTTATAAAT
GTTTGATTCCCTTCCTTGCTATTTTTATTCAGTAGATTTTTGTTTGGCATCATGTTGAAGCACC
GAAAGATAAATGATTTTTAAAAGGCTATAGAGTCCAAAGGAATATTCTTTTACACCAATTCTTC
CTTTAAAAATCTCTGAGGAATTTGTTTTCGCCTTACTTTTTTTTCTTCTGTCACAATGCTAAGT
GGTATCCGAGGTTCTTAATATGAGATTTAAAATCTTAAAATGTTTCTTATTTTCAGCACTTACA
TCATTTGGTACACAGGGTCAAATAGGGCAAATAATTTTGTCTTTGTATAATAGATTTGATATTT
AAAGTCACTGGAAATAGGACAAGTTAATGGATGTTTTTATATTTTAATAGAATCATTTATTTCT
ATGTGTTATGAAATTCACTTAATGATAAATTTTTCAACATACTTGCCATTAGAAAACAAAGTAT
TGCTAAGTACTATAACATATTGGCCACTAAAATTCATATTGAGATTATCTTGGTTTCTTGGAAG
AGATAGGAATGAGTTCTTATCTAGTGTTGCAGGCCAGCAAATACAGAGGTGGTTTAATCAAACA
GCTCTAGTATGAAGCAAGAGTAAAGACTAAGGTTTCGAGAGCATTCCTACTCACATAAGTGAAG
AAATCTGTCAGATAGGAATCTAAATATTTATAGTGAGATTGTGAAAGCAACCTTAAAGTTTTGA
AGAAGACTGATGAGACTAGGTGCTTTGCTTCCTTTCATCAGGTATCTTTCTGTGGCATTTGAGA
ACAGAAACCAAGAAACATGGTAATTACTAAATTATGAGGCTTTGCTTTTTGTTTGCTTTTAAGT
AGAAAAACATGTTGGCAACATTGAGTTTTGGAGTTGATTGAGATAATATGACTTAACTAGTTTT
GTCATTCCATTTGTTAAAGATACAGTCACCAAGAATGTTTTGAGTTTTTTGAAAGACCCCAATT
TAAGCCTTGCTTATTTTTAAATTATTTCCATTCAGTGATGTTGGATGTATATCAGTTATTTAGT
AAATAATCTCAATAAATTTTGTGCTGTGGCCTTTGCTA

hide sequence

RefSeq Acc Id:

NM_001366135 ⟹ NP_001353064

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	47,333,790 - 47,378,839 (+)	NCBI
T2T-CHM13v2.0	1	47,212,232 - 47,257,303 (+)	NCBI

Sequence:

show sequence

CCCTTCCGACAGGGCCGCGGACGCCCGGGCAGCCACGGCGGCGGGGCCGCGGCGGGCGCCGGCT
CAGCCCGCCCCTTTCTCCCGCCGCCTCCCCGCCCCGCCCCGCGCCGCGCCGGCCGCTGTCAGCT
CCCTCAGCGTCCGGCCGAGGCGCGGTGTATGCTGAGCCGCTGCCGCAGCGGGCTGCTCCACGTC
CTGGGCCTTAGCTTCCTGCTGCAGACCCGCCGGCCGATTCTCCTCTGCTCTCCACGTCTCATGA
AGCCGCTGGTCGTGTTCGTCCTCGGCGGCCCCGGCGCCGGCAAGGGGACCCAGTGCGCCCGCAT
CGTCGAGAAATATGGCTACACACACCTTTCTGCAGGAGAGCTGCTTCGTGATGAAAGGAAGAAC
CCAGATTCACAGTATGGTGAACTTATTGAAAAGTACATTAAAGAAGGAAAGATTGTACCAGTTG
AGATAACCATCAGTTTATTAAAGAGGGAAATGGATCAGACAATGGCTGCCAATGCTCAGAAGAA
TAAATTCTTGATTGATGGGTTTCCAAGAAATCAAGACAACCTTCAAGGATGGAACAAGACCATG
GATGGGAAGGCAGATGTATCTTTCGTTCTCTTTTTTGACTGTAATAATGAGATTTGTATTGAAC
GATGTCTTGAGAGGGGAAAGAGTAGTGGTAGGAGTGATGACAACAGAGAGAGCTTGGAAAAGAG
AATTCAGACCTACCTTCAGTCAACAAAGCCAATTATTGACTTATATGAAGAAATGGGGAAAGTC
AAGAAAATAGATGCTTCTAAATCTGTTGATGAAGTTTTTGATGAAGTTGTGCAGATTTTTGACA
AGGAAGGCTAATTCTAAACCTGAAGGCATCCTTGAAATCATGCTTGAATATTGCTTTGATAGCT
GCTATCATGACCCCTTTTTAAGGCAATTCTAATCTTTCATAACTACATCTCAATTAGTGGCTGG
AAAGTACATGGTAAAACAAAGTAAATTTTTTTATGTTCTTTTTTTTGGTCACAGGAGTAGACAG
TGAATTCAGGTTTAACTTCACCTTAGTTATGGTGCTCACCAAACGAAGGGTATCAGCTATTTTT
TTTAAAATTCAAAAAGAATATCCCTTTTATAGTTTGTGCCTTCTGTGAGCAAAACTTTTTAGTA
CGCGTATATATCCCTCTAGTAATCACAACATTTTAGGATTTAGGGATACCCGCTTCCTCTTTTT
CTTGCAAGTTTTAAATTTCCAACCTTAAGTGAATTTGTGGACCAAATTTCAAAGGAACTTTTTG
TGTAGTCAGTTCTTGCACAATGTGTTTGGTAAACAAACTCAAAATGGATTCTTAGGAGCATTTT
AGTGTTTATTAAATAACTGACCATTTGCTGTAGAAAGATGAGAAAACTTAAGCTTTGTTTTACT
ACAACTTGTACAAAGTTGTATGACAGGGCATATTCTTTGCTTCCAAGATTTGGGTTGGGGGCAC
TAGGGGTTCAGAGCCTGGCAGAATTGTCAGCTTTAGTCTGACATAATCTAAGGGTATGGGGCAA
GGATCACATCTAATGCTTGTGTTCCTTATACTCTATTATATAGTGTTATTCATGATTCAGCTGA
TCTTAACAAAATTCGTAGCAGTGGAACCTTGAAATGCATGTGGCTAGATTTATGCTAAAATGAT
TCTCAGTTAGCATTTTAGTAACACTTCAAAGGTTTTTTTTTGTTTGTTTTCTAGACTTAATAAA
AGCTTAGGATTAATTAGAAGAAGCAATCTAGTTAAATTTCCCATTTGTATTTTATTTTCTTGAA
TACTTTTTTCATAGTTATTTGTTTAAAAAGATTTAAAAATCATTGCACTTTGGTCAGAAAAATA
ATAAATATATCTTATAAATGTTTGATTCCCTTCCTTGCTATTTTTATTCAGTAGATTTTTGTTT
GGCATCATGTTGAAGCACCGAAAGATAAATGATTTTTAAAAGGCTATAGAGTCCAAAGGAATAT
TCTTTTACACCAATTCTTCCTTTAAAAATCTCTGAGGAATTTGTTTTCGCCTTACTTTTTTTTC
TTCTGTCACAATGCTAAGTGGTATCCGAGGTTCTTAATATGAGATTTAAAATCTTAAAATGTTT
CTTATTTTCAGCACTTACATCATTTGGTACACAGGGTCAAATAGGGCAAATAATTTTGTCTTTG
TATAATAGATTTGATATTTAAAGTCACTGGAAATAGGACAAGTTAATGGATGTTTTTATATTTT
AATAGAATCATTTATTTCTATGTGTTATGAAATTCACTTAATGATAAATTTTTCAACATACTTG
CCATTAGAAAACAAAGTATTGCTAAGTACTATAACATATTGGCCACTAAAATTCATATTGAGAT
TATCTTGGTTTCTTGGAAGAGATAGGAATGAGTTCTTATCTAGTGTTGCAGGCCAGCAAATACA
GAGGTGGTTTAATCAAACAGCTCTAGTATGAAGCAAGAGTAAAGACTAAGGTTTCGAGAGCATT
CCTACTCACATAAGTGAAGAAATCTGTCAGATAGGAATCTAAATATTTATAGTGAGATTGTGAA
AGCAACCTTAAAGTTTTGAAGAAGACTGATGAGACTAGGTGCTTTGCTTCCTTTCATCAGGTAT
CTTTCTGTGGCATTTGAGAACAGAAACCAAGAAACATGGTAATTACTAAATTATGAGGCTTTGC
TTTTTGTTTGCTTTTAAGTAGAAAAACATGTTGGCAACATTGAGTTTTGGAGTTGATTGAGATA
ATATGACTTAACTAGTTTTGTCATTCCATTTGTTAAAGATACAGTCACCAAGAATGTTTTGAGT
TTTTTGAAAGACCCCAATTTAAGCCTTGCTTATTTTTAAATTATTTCCATTCAGTGATGTTGGA
TGTATATCAGTTATTTAGTAAATAATCTCAATAAATTTTGTGCTGTGGCCTTTGCTA

hide sequence

RefSeq Acc Id:

NM_016308 ⟹ NP_057392

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	47,333,790 - 47,378,839 (+)	NCBI
GRCh37	1	47,799,469 - 47,844,511 (+)	ENTREZGENE
Build 36	1	47,572,175 - 47,617,098 (+)	NCBI Archive
HuRef	1	45,915,968 - 45,960,944 (+)	ENTREZGENE
CHM1_1	1	47,916,317 - 47,961,359 (+)	NCBI
T2T-CHM13v2.0	1	47,212,232 - 47,257,303 (+)	NCBI

Sequence:

show sequence

CCCTTCCGACAGGGCCGCGGACGCCCGGGCAGCCACGGCGGCGGGGCCGCGGCGGGCGCCGGCT
CAGCCCGCCCCTTTCTCCCGCCGCCTCCCCGCCCCGCCCCGCGCCGCGCCGGCCGCTGTCAGCT
CCCTCAGCGTCCGGCCGAGGCGCGGTGTATGCTGAGCCGCTGCCGCAGCGGGCTGCTCCACGTC
CTGGGCCTTAGCTTCCTGCTGCAGACCCGCCGGCCGATTCTCCTCTGCTCTCCACGTCTCATGA
AGCCGCTGGTCGTGTTCGTCCTCGGCGGCCCCGGCGCCGGCAAGGGGACCCAGTGCGCCCGCAT
CGTCGAGAAATATGGCTACACACACCTTTCTGCAGGAGAGCTGCTTCGTGATGAAAGGAAGAAC
CCAGATTCACAGTATGGTGAACTTATTGAAAAGTACATTAAAGAAGGAAAGATTGTACCAGTTG
AGATAACCATCAGTTTATTAAAGAGGGAAATGGATCAGACAATGGCTGCCAATGCTCAGAAGAA
TAAATTCTTGATTGATGGGTTTCCAAGAAATCAAGACAACCTTCAAGGATGGAACAAGACCATG
GATGGGAAGGCAGATGTATCTTTCGTTCTCTTTTTTGACTGTAATAATGAGATTTGTATTGAAC
GATGTCTTGAGAGGGGAAAGAGTAGTGGTAGGAGTGATGACAACAGAGAGAGCTTGGAAAAGAG
AATTCAGACCTACCTTCAGTCAACAAAGCCAATTATTGACTTATATGAAGAAATGGGGAAAGTC
AAGAAAATAGATGCTTCTAAATCTGTTGATGAAGTTTTTGATGAAGTTGTGCAGATTTTTGACA
AGGAAGGCTAATTCTAAACCTGAAGGCATCCTTGAAATCATGCTTGAATATTGCTTTGATAGCT
GCTATCATGACCCCTTTTTAAGGCAATTCTAATCTTTCATAACTACATCTCAATTAGTGGCTGG
AAAGTACATGGTAAAACAAAGTAAATTTTTTTATGTTCTTTTTTTTGGTCACAGGAGTAGACAG
TGAATTCAGGTTTAACTTCACCTTAGTTATGGTGCTCACCAAACGAAGGGTATCAGCTATTTTT
TTTAAAATTCAAAAAGAATATCCCTTTTATAGTTTGTGCCTTCTGTGAGCAAAACTTTTTAGTA
CGCGTATATATCCCTCTAGTAATCACAACATTTTAGGATTTAGGGATACCCGCTTCCTCTTTTT
CTTGCAAGTTTTAAATTTCCAACCTTAAGTGAATTTGTGGACCAAATTTCAAAGGAACTTTTTG
TGTAGTCAGTTCTTGCACAATGTGTTTGGTAAACAAACTCAAAATGGATTCTTAGGAGCATTTT
AGTGTTTATTAAATAACTGACCATTTGCTGTAGAAAGATGAGAAAACTTAAGCTTTGTTTTACT
ACAACTTGTACAAAGTTGTATGACAGGGCATATTCTTTGCTTCCAAGATTTGGGTTGGGGGCAC
TAGGGGTTCAGAGCCTGGCAGAATTGTCAGCTTTAGTCTGACATAATCTAAGGGTATGGGGCAA
GGATCACATCTAATGCTTGTGTTCCTTATACTCTATTATATAGTGTTATTCATGATTCAGCTGA
TCTTAACAAAATTCGTAGCAGTGGAACCTTGAAATGCATGTGGCTAGATTTATGCTAAAATGAT
TCTCAGTTAGCATTTTAGTAACACTTCAAAGGTTTTTTTTTGTTTGTTTTCTAGACTTAATAAA
AGCTTAGGATTAATTAGAAGAAGCAATCTAGTTAAATTTCCCATTTGTATTTTATTTTCTTGAA
TACTTTTTTCATAGTTATTTGTTTAAAAAGATTTAAAAATCATTGCACTTTGGTCAGAAAAATA
ATAAATATATCTTATAAATGTTTGATTCCCTTCCTTGCTATTTTTATTCAGTAGATTTTTGTTT
GGCATCATGTTGAAGCACCGAAAGATAAATGATTTTTAAAAGGCTATAGAGTCCAAAGGAATAT
TCTTTTACACCAATTCTTCCTTTAAAAATCTCTGAGGAATTTGTTTTCGCCTTACTTTTTTTTC
TTCTGTCACAATGCTAAGTGGTATCCGAGGTTCTTAATATGAGATTTAAAATCTTAAAATGTTT
CTTATTTTCAGCACTTACATCATTTGGTACACAGGGTCAAATAGGGCAAATAATTTTGTCTTTG
TATAATAGATTTGATATTTAAAGTCACTGGAAATAGGACAAGTTAATGGATGTTTTTATATTTT
AATAGAATCATTTATTTCTATGTGTTATGAAATTCACTTAATGATAAATTTTTCAACATACTTG
CCATTAGAAAACAAAGTATTGCTAAGTACTATAACATATTGGCCACTAAAATTCATATTGAGAT
TATCTTGGTTTCTTGGAAGAGATAGGAATGAGTTCTTATCTAGTGTTGCAGGCCAGCAAATACA
GAGGTGGTTTAATCAAACAGCTCTAGTATGAAGCAAGAGTAAAGACTAAGGTTTCGAGAGCATT
CCTACTCACATAAGTGAAGAAATCTGTCAGATAGGAATCTAAATATTTATAGTGAGATTGTGAA
AGCAACCTTAAAGTTTTGAAGAAGACTGATGAGACTAGGTGCTTTGCTTCCTTTCATCAGGTAT
CTTTCTGTGGCATTTGAGAACAGAAACCAAGAAACATGGTAATTACTAAATTATGAGGCTTTGC
TTTTTGTTTGCTTTTAAGTAGAAAAACATGTTGGCAACATTGAGTTTTGGAGTTGATTGAGATA
ATATGACTTAACTAGTTTTGTCATTCCATTTGTTAAAGATACAGTCACCAAGAATGTTTTGAGT
TTTTTGAAAGACCCCAATTTAAGCCTTGCTTATTTTTAAATTATTTCCATTCAGTGATGTTGGA
TGTATATCAGTTATTTAGTAAATAATCTCAATAAATTTTGTGCTGTGGCCTTTGCTA

hide sequence

RefSeq Acc Id:

NR_046394

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	47,333,790 - 47,378,839 (+)	NCBI
GRCh37	1	47,799,469 - 47,844,511 (+)	NCBI
HuRef	1	45,915,968 - 45,960,944 (+)	NCBI
CHM1_1	1	47,916,317 - 47,961,359 (+)	NCBI
T2T-CHM13v2.0	1	47,212,232 - 47,257,303 (+)	NCBI

Sequence:

show sequence

CCCTTCCGACAGGGCCGCGGACGCCCGGGCAGCCACGGCGGCGGGGCCGCGGCGGGCGCCGGCT
CAGCCCGCCCCTTTCTCCCGCCGCCTCCCCGCCCCGCCCCGCGCCGCGCCGGCCGCTGTCAGCT
CCCTCAGCGTCCGGCCGAGGCGCGGTGTATGCTGAGCCGCTGCCGCAGCGGGCTGCTCCACGTC
CTGGGCCTTAGCTTCCTGCTGCAGACCCGCCGGCCGATTCTCCTCTGCTCTCCACGTCTCATGA
AGCCGCTGGTCGTGTTCGTCCTCGGCGGCCCCGGCGCCGGCAAGGGGACCCAGTGCGCCCGCAT
CGTCGAGAAATATGGCTACACACACCTTTCTGCAGGAGAGCTGCTTCGTGATGAAAGGAAGAAC
CCAGATTCACAGTATGGTGAACTTATTGAAAAGTACATTAAAGAAGGAAAGATTGTACCAGTTG
AGATAACCATCAGTTTATTAAAGAGGGAAATGGATCAGACAATGGCTGCCAATGCTCAGAAGAA
TAAATTCTTGATTGATGGGTTTCCAAGAAATCAAGACAACCTTCAAGGATGGAACAAGACCATG
GATGGGAAGGCAGATGTATCTTTCGTTCTCTTTTTTGACTGTAATAATGAGAATTCAGACCTAC
CTTCAGTCAACAAAGCCAATTATTGACTTATATGAAGAAATGGGGAAAGTCAAGAAAATAGATG
CTTCTAAATCTGTTGATGAAGTTTTTGATGAAGTTGTGCAGATTTTTGACAAGGAAGGCTAATT
CTAAACCTGAAGGCATCCTTGAAATCATGCTTGAATATTGCTTTGATAGCTGCTATCATGACCC
CTTTTTAAGGCAATTCTAATCTTTCATAACTACATCTCAATTAGTGGCTGGAAAGTACATGGTA
AAACAAAGTAAATTTTTTTATGTTCTTTTTTTTGGTCACAGGAGTAGACAGTGAATTCAGGTTT
AACTTCACCTTAGTTATGGTGCTCACCAAACGAAGGGTATCAGCTATTTTTTTTAAAATTCAAA
AAGAATATCCCTTTTATAGTTTGTGCCTTCTGTGAGCAAAACTTTTTAGTACGCGTATATATCC
CTCTAGTAATCACAACATTTTAGGATTTAGGGATACCCGCTTCCTCTTTTTCTTGCAAGTTTTA
AATTTCCAACCTTAAGTGAATTTGTGGACCAAATTTCAAAGGAACTTTTTGTGTAGTCAGTTCT
TGCACAATGTGTTTGGTAAACAAACTCAAAATGGATTCTTAGGAGCATTTTAGTGTTTATTAAA
TAACTGACCATTTGCTGTAGAAAGATGAGAAAACTTAAGCTTTGTTTTACTACAACTTGTACAA
AGTTGTATGACAGGGCATATTCTTTGCTTCCAAGATTTGGGTTGGGGGCACTAGGGGTTCAGAG
CCTGGCAGAATTGTCAGCTTTAGTCTGACATAATCTAAGGGTATGGGGCAAGGATCACATCTAA
TGCTTGTGTTCCTTATACTCTATTATATAGTGTTATTCATGATTCAGCTGATCTTAACAAAATT
CGTAGCAGTGGAACCTTGAAATGCATGTGGCTAGATTTATGCTAAAATGATTCTCAGTTAGCAT
TTTAGTAACACTTCAAAGGTTTTTTTTTGTTTGTTTTCTAGACTTAATAAAAGCTTAGGATTAA
TTAGAAGAAGCAATCTAGTTAAATTTCCCATTTGTATTTTATTTTCTTGAATACTTTTTTCATA
GTTATTTGTTTAAAAAGATTTAAAAATCATTGCACTTTGGTCAGAAAAATAATAAATATATCTT
ATAAATGTTTGATTCCCTTCCTTGCTATTTTTATTCAGTAGATTTTTGTTTGGCATCATGTTGA
AGCACCGAAAGATAAATGATTTTTAAAAGGCTATAGAGTCCAAAGGAATATTCTTTTACACCAA
TTCTTCCTTTAAAAATCTCTGAGGAATTTGTTTTCGCCTTACTTTTTTTTCTTCTGTCACAATG
CTAAGTGGTATCCGAGGTTCTTAATATGAGATTTAAAATCTTAAAATGTTTCTTATTTTCAGCA
CTTACATCATTTGGTACACAGGGTCAAATAGGGCAAATAATTTTGTCTTTGTATAATAGATTTG
ATATTTAAAGTCACTGGAAATAGGACAAGTTAATGGATGTTTTTATATTTTAATAGAATCATTT
ATTTCTATGTGTTATGAAATTCACTTAATGATAAATTTTTCAACATACTTGCCATTAGAAAACA
AAGTATTGCTAAGTACTATAACATATTGGCCACTAAAATTCATATTGAGATTATCTTGGTTTCT
TGGAAGAGATAGGAATGAGTTCTTATCTAGTGTTGCAGGCCAGCAAATACAGAGGTGGTTTAAT
CAAACAGCTCTAGTATGAAGCAAGAGTAAAGACTAAGGTTTCGAGAGCATTCCTACTCACATAA
GTGAAGAAATCTGTCAGATAGGAATCTAAATATTTATAGTGAGATTGTGAAAGCAACCTTAAAG
TTTTGAAGAAGACTGATGAGACTAGGTGCTTTGCTTCCTTTCATCAGGTATCTTTCTGTGGCAT
TTGAGAACAGAAACCAAGAAACATGGTAATTACTAAATTATGAGGCTTTGCTTTTTGTTTGCTT
TTAAGTAGAAAAACATGTTGGCAACATTGAGTTTTGGAGTTGATTGAGATAATATGACTTAACT
AGTTTTGTCATTCCATTTGTTAAAGATACAGTCACCAAGAATGTTTTGAGTTTTTTGAAAGACC
CCAATTTAAGCCTTGCTTATTTTTAAATTATTTCCATTCAGTGATGTTGGATGTATATCAGTTA
TTTAGTAAATAATCTCAATAAATTTTGTGCTGTGGCCTTTGCTA

hide sequence

RefSeq Acc Id:

NR_046395

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	47,333,790 - 47,358,875 (+)	NCBI
GRCh37	1	47,799,469 - 47,844,511 (+)	NCBI
HuRef	1	45,915,968 - 45,960,944 (+)	NCBI
CHM1_1	1	47,916,317 - 47,941,390 (+)	NCBI
T2T-CHM13v2.0	1	47,212,232 - 47,237,332 (+)	NCBI

Sequence:

show sequence

CCCTTCCGACAGGGCCGCGGACGCCCGGGCAGCCACGGCGGCGGGGCCGCGGCGGGCGCCGGCT
CAGCCCGCCCCTTTCTCCCGCCGCCTCCCCGCCCCGCCCCGCGCCGCGCCGGCCGCTGTCAGCT
CCCTCAGCGTCCGGCCGAGGCGCGGTGTATGCTGAGCCGCTGCCGCAGCGGGCTGCTCCACGTC
CTGGGCCTTAGCTTCCTGCTGCAGACCCGCCGGCCGATTCTCCTCTGCTCTCCACGTCTCATGA
AGCCGCTGGTCGTGTTCGTCCTCGGCGGCCCCGGCGCCGGCAAGGGGACCCAGTGCGCCCGCAT
CGTCGAGGGATGACATCTTGCTATGGTGCATAGGCTGATCTCAAACTCCTGGCCTCGAGCAACC
CTCTCGTCTTGACCTTCCAAAGTGCTGAGATTACAGGCATGAGCCACAGTGCGTAGTCCCTGTT
TTTAGAAGTTTGTTCTTCAAGAGATTCTTCTAGTTGTAACATCTAATAATGATATTTTGCTGTG
GCTGTTAGTATAGTATAGTATGTGTAGATGTCATTTTTGGTAGCATACATATTATTTCTGTTTT
ATAAATAAACAGATCTAAGAAAGATTAAACAAATTACCCACTGTCACACTGGGTTGTGACAGAG
TTATAAAACTTTAGTTTTAGTTATAAAACCTTAAGCACTCTAGTTCAGTGTTCTGAGTGTGTGA
TTTCATGTAAGGTTCAGGTTCTTGTGATCTTTGCTGAGTTCTTTGTGTTTCTCCAAATTTATTT
CCCCATTAGTTTGATAATTTTGCAAATGCTCAAATGTTATGTTTGCTTAATATTATTATTTAGG
ATTCTGTCTCCTTTGTACATTTTTCTGGTGTTGATTCTTAAATTCAAATAAATTCTAGTTCCTA
AAGAGCACC

hide sequence

Protein Sequences


Protein RefSeqs	NP_001129612	(Get FASTA)	NCBI Sequence Viewer
	NP_001353064	(Get FASTA)	NCBI Sequence Viewer
	NP_057392	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD48583	(Get FASTA)	NCBI Sequence Viewer
	AAF17204	(Get FASTA)	NCBI Sequence Viewer
	AAF17709	(Get FASTA)	NCBI Sequence Viewer
	AAG22609	(Get FASTA)	NCBI Sequence Viewer
	AAH14961	(Get FASTA)	NCBI Sequence Viewer
	AAP97174	(Get FASTA)	NCBI Sequence Viewer
	BAD96734	(Get FASTA)	NCBI Sequence Viewer
	BAG35572	(Get FASTA)	NCBI Sequence Viewer
	BAG56775	(Get FASTA)	NCBI Sequence Viewer
	BAG57577	(Get FASTA)	NCBI Sequence Viewer
	BAG60709	(Get FASTA)	NCBI Sequence Viewer
	EAX06869	(Get FASTA)	NCBI Sequence Viewer
	EAX06870	(Get FASTA)	NCBI Sequence Viewer
	EAX06871	(Get FASTA)	NCBI Sequence Viewer
	P30085	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_057392 ⟸ NM_016308
- Peptide Label:	isoform a
- UniProtKB:	P30085 (UniProtKB/Swiss-Prot), B2R6S5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLSRCRSGLLHVLGLSFLLQTRRPILLCSPRLMKPLVVFVLGGPGAGKGTQCARIVEKYGYTHL SAGELLRDERKNPDSQYGELIEKYIKEGKIVPVEITISLLKREMDQTMAANAQKNKFLIDGFPR NQDNLQGWNKTMDGKADVSFVLFFDCNNEICIERCLERGKSSGRSDDNRESLEKRIQTYLQSTK PIIDLYEEMGKVKKIDASKSVDEVFDEVVQIFDKEG hide sequence

RefSeq Acc Id:	NP_001129612 ⟸ NM_001136140
- Peptide Label:	isoform b
- UniProtKB:	P30085 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLSRCRSGLLHVLGLSFLLQTRRPILLCSPRLMKPLVVFVLGGPGAGKGTQCARIVEEMDQTMA ANAQKNKFLIDGFPRNQDNLQGWNKTMDGKADVSFVLFFDCNNEICIERCLERGKSSGRSDDNR ESLEKRIQTYLQSTKPIIDLYEEMGKVKKIDASKSVDEVFDEVVQIFDKEG hide sequence

RefSeq Acc Id:	NP_001353064 ⟸ NM_001366135
- Peptide Label:	isoform c

RefSeq Acc Id:

ENSP00000360937 ⟸ ENST00000371871

RefSeq Acc Id:

ENSP00000360939 ⟸ ENST00000371873

RefSeq Acc Id:

ENSP00000398192 ⟸ ENST00000450808

RefSeq Acc Id:

ENSP00000433782 ⟸ ENST00000471289

RefSeq Acc Id:

ENSP00000514113 ⟸ ENST00000699074

RefSeq Acc Id:

ENSP00000514114 ⟸ ENST00000699075

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P30085-F1-model_v2	AlphaFold	P30085	1-196	view protein structure

Promoters

RGD ID:

6855472

Promoter ID:

EPDNEW_H901

Type:

initiation region

Name:

CMPK1_1

Description:

cytidine/uridine monophosphate kinase 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H902

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	47,333,791 - 47,333,851	EPDNEW

RGD ID:

6855474

Promoter ID:

EPDNEW_H902

Type:

initiation region

Name:

CMPK1_2

Description:

cytidine/uridine monophosphate kinase 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H901

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	47,333,914 - 47,333,974	EPDNEW

RGD ID:

6784937

Promoter ID:

HG_KWN:2619

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:

ENST00000333103, ENST00000371870, ENST00000371871, NM_001136140, OTTHUMT00000021646, OTTHUMT00000021647

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	47,571,956 - 47,572,552 (+)	MPROMDB

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]\|See cases [RCV000051817]	Chr1:39479787..47688131 [GRCh38] Chr1:39945459..48153803 [GRCh37] Chr1:39718046..47926390 [NCBI36] Chr1:1p34.3-33	pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3	copy number loss	not provided [RCV000762767]	Chr1:20608823..120546301 [GRCh37] Chr1:1p36.12-12	likely benign
GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)x1	copy number loss	See cases [RCV000448358]	Chr1:45303358..52157856 [GRCh37] Chr1:1p34.1-32.3	likely 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 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 1p33-32.3(chr1:47272184-52505405)x1	copy number loss	not provided [RCV001005086]	Chr1:47272184..52505405 [GRCh37] Chr1:1p33-32.3	pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	copy number gain	Global developmental delay [RCV000787285]	Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1	uncertain significance
GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	copy number loss	not specified [RCV002053281]	Chr1:45303358..52157856 [GRCh37] Chr1:1p34.1-32.3	likely pathogenic
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	copy number gain	not specified [RCV002052781]	Chr1:33285582..47891811 [GRCh37] Chr1:1p35.1-33	pathogenic

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:18170	AgrOrtholog
COSMIC	CMPK1	COSMIC
Ensembl Genes	ENSG00000162368	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000360937.4	UniProtKB/TrEMBL
	ENSP00000360939	ENTREZGENE
	ENSP00000360939.5	UniProtKB/Swiss-Prot
	ENSP00000398192	ENTREZGENE
	ENSP00000398192.2	UniProtKB/TrEMBL
	ENSP00000433782.1	UniProtKB/TrEMBL
	ENSP00000514114	ENTREZGENE
Ensembl Transcript	ENST00000371871.8	UniProtKB/TrEMBL
	ENST00000371873	ENTREZGENE
	ENST00000371873.10	UniProtKB/Swiss-Prot
	ENST00000450808	ENTREZGENE
	ENST00000450808.2	UniProtKB/TrEMBL
	ENST00000471289	ENTREZGENE
	ENST00000471289.2	UniProtKB/TrEMBL
	ENST00000699075	ENTREZGENE
Gene3D-CATH	3.40.50.300	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000162368	GTEx
HGNC ID	HGNC:18170	ENTREZGENE
Human Proteome Map	CMPK1	Human Proteome Map
InterPro	Adenylat/UMP-CMP_kin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Adenylat_kinase_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	P-loop_NTPase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	UMP_CMP_kinase	UniProtKB/Swiss-Prot
KEGG Report	hsa:51727	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	51727	ENTREZGENE
OMIM	191710	OMIM
PANTHER	PTHR23359	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	CMPK1	RGD, PharmGKB
PRINTS	ADENYLTKNASE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	ADENYLATE_KINASE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF52540	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs	UMP_CMP_kin_fam	UniProtKB/Swiss-Prot
UniProt	A0A494BXC7_HUMAN	UniProtKB/TrEMBL
	B2R6S5	ENTREZGENE
	E9PJD2_HUMAN	UniProtKB/TrEMBL
	KCY_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q5T0D2_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	B2R6S5	UniProtKB/Swiss-Prot
	B4DPU7	UniProtKB/Swiss-Prot
	E9PGI8	UniProtKB/Swiss-Prot
	Q53GB7	UniProtKB/Swiss-Prot
	Q5SVZ0	UniProtKB/Swiss-Prot
	Q96C07	UniProtKB/Swiss-Prot
	Q9UBQ8	UniProtKB/Swiss-Prot
	Q9UIA2	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-01-26	CMPK1	cytidine/uridine monophosphate kinase 1		cytidine monophosphate (UMP-CMP) kinase 1, cytosolic	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

RGD Manual Annotations

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

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RGD Manual Annotations

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)