GUK1 (guanylate kinase 1) - Rat Genome Database

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Gene: GUK1 (guanylate kinase 1) Homo sapiens
Analyze
Symbol: GUK1
Name: guanylate kinase 1
RGD ID: 1320084
HGNC Page HGNC:4693
Description: Enables guanylate kinase activity. Involved in dGDP biosynthetic process and xenobiotic metabolic process. Predicted to be located in photoreceptor inner segment. Predicted to be active in cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATP:GMP phosphotransferase; FLJ42686; FLJ43710; GMK; GMP kinase; guanylate kinase
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
GRCh381228,140,084 - 228,148,955 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1228,139,962 - 228,148,984 (+)EnsemblGRCh38hg38GRCh38
GRCh371228,327,785 - 228,336,656 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361226,394,605 - 226,403,275 (+)NCBINCBI36hg18NCBI36
Build 341224,634,716 - 224,643,387NCBI
Celera1201,518,174 - 201,526,898 (+)NCBI
Cytogenetic Map1q42.13NCBI
HuRef1198,842,817 - 198,851,685 (+)NCBIHuRef
CHM1_11229,600,114 - 229,608,980 (+)NCBICHM1_1
T2T-CHM13v2.01227,329,084 - 227,337,952 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA)
cytosol  (IBA,IEA,ISO,ISS,TAS)
photoreceptor inner segment  (IEA,ISS)

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. Differences in expression of retinal proteins between diabetic and normal rats. Liu SQ, etal., World J Gastroenterol. 2007 Apr 14;13(14):2118-24.
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
Additional References at PubMed
PMID:211390   PMID:2164269   PMID:6249178   PMID:6260205   PMID:6306664   PMID:8647247   PMID:8663313   PMID:12107411   PMID:12477932   PMID:15231747   PMID:15489334   PMID:16341674  
PMID:16832584   PMID:21565611   PMID:21873635   PMID:22658674   PMID:25464930   PMID:26186194   PMID:27499296   PMID:28514442   PMID:29515371   PMID:31201273   PMID:31536960   PMID:31682009  
PMID:33961781   PMID:34373451   PMID:35205757  


Genomics

Comparative Map Data
GUK1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381228,140,084 - 228,148,955 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1228,139,962 - 228,148,984 (+)EnsemblGRCh38hg38GRCh38
GRCh371228,327,785 - 228,336,656 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361226,394,605 - 226,403,275 (+)NCBINCBI36hg18NCBI36
Build 341224,634,716 - 224,643,387NCBI
Celera1201,518,174 - 201,526,898 (+)NCBI
Cytogenetic Map1q42.13NCBI
HuRef1198,842,817 - 198,851,685 (+)NCBIHuRef
CHM1_11229,600,114 - 229,608,980 (+)NCBICHM1_1
T2T-CHM13v2.01227,329,084 - 227,337,952 (+)NCBI
Guk1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391159,074,681 - 59,083,033 (-)NCBIGRCm39mm39
GRCm39 Ensembl1159,074,701 - 59,083,069 (-)Ensembl
GRCm381159,183,855 - 59,192,207 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1159,183,875 - 59,192,212 (-)EnsemblGRCm38mm10GRCm38
MGSCv371158,997,357 - 59,005,454 (-)NCBIGRCm37mm9NCBIm37
MGSCv361159,000,070 - 59,008,011 (-)NCBImm8
Celera1163,948,962 - 63,956,989 (-)NCBICelera
Cytogenetic Map11B1.3NCBI
Guk1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21043,971,514 - 43,988,658 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1043,971,509 - 43,980,107 (-)Ensembl
Rnor_6.01045,535,617 - 45,552,455 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1045,535,627 - 45,543,897 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01045,291,702 - 45,308,540 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41045,489,304 - 45,497,364 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11045,502,968 - 45,510,938 (-)NCBI
Celera1043,234,788 - 43,243,045 (-)NCBICelera
Cytogenetic Map10q22NCBI
Guk1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955581299,280 - 305,032 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955581299,010 - 305,032 (-)NCBIChiLan1.0ChiLan1.0
GUK1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11208,753,419 - 208,762,252 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1208,753,657 - 208,765,857 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01203,541,866 - 203,550,827 (+)NCBIMhudiblu_PPA_v0panPan3
GUK1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.114820,048 - 826,694 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl14820,093 - 827,250 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha14324,908 - 331,250 (+)NCBI
ROS_Cfam_1.014540,816 - 547,155 (-)NCBI
ROS_Cfam_1.0 Ensembl14540,822 - 547,116 (-)Ensembl
UMICH_Zoey_3.114731,629 - 737,964 (-)NCBI
UNSW_CanFamBas_1.014512,458 - 518,788 (-)NCBI
UU_Cfam_GSD_1.014498,337 - 504,677 (-)NCBI
Guk1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721387,735,431 - 87,745,573 (-)NCBI
SpeTri2.0NW_00493686476,707 - 86,479 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GUK1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl251,241,952 - 51,257,485 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1251,247,665 - 51,257,481 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2253,854,695 - 53,864,531 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GUK1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1251,579,382 - 1,587,623 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl251,579,610 - 1,587,419 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660551,459,801 - 1,467,918 (-)NCBIVero_WHO_p1.0
Guk1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624937892,854 - 898,799 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_004624937892,840 - 898,799 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH80270  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,336,398 - 228,336,628UniSTSGRCh37
Build 361226,403,021 - 226,403,251RGDNCBI36
Celera1201,526,640 - 201,526,870RGD
Cytogenetic Map1q32-q41UniSTS
Cytogenetic Map1q42.13UniSTS
HuRef1198,851,427 - 198,851,657UniSTS
GeneMap99-GB4 RH Map1720.67UniSTS
RH78169  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,328,950 - 228,329,128UniSTSGRCh37
Build 361226,395,573 - 226,395,751RGDNCBI36
Celera1201,519,195 - 201,519,373RGD
Cytogenetic Map1q32-q41UniSTS
HuRef1198,843,982 - 198,844,160UniSTS
GeneMap99-GB4 RH Map1723.78UniSTS
NCBI RH Map12060.0UniSTS
SHGC-76460  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,328,832 - 228,328,964UniSTSGRCh37
Build 361226,395,455 - 226,395,587RGDNCBI36
Celera1201,519,077 - 201,519,209RGD
Cytogenetic Map1q32-q41UniSTS
HuRef1198,843,864 - 198,843,996UniSTS
TNG Radiation Hybrid Map1114531.0UniSTS
GeneMap99-GB4 RH Map1720.26UniSTS
NCBI RH Map12068.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:12833
Count of miRNA genes:1089
Interacting mature miRNAs:1381
Transcripts:ENST00000312726, ENST00000366716, ENST00000366718, ENST00000366721, ENST00000366722, ENST00000366723, ENST00000366726, ENST00000366728, ENST00000366730, ENST00000391865, ENST00000412265, ENST00000435153, ENST00000453943, ENST00000460224, ENST00000462807, ENST00000464858, ENST00000465025, ENST00000469973, ENST00000470040, ENST00000470155, ENST00000471270, ENST00000472939, ENST00000477206, ENST00000478725, ENST00000480056, ENST00000481341, ENST00000484953, ENST00000485083, ENST00000485168, ENST00000485733, ENST00000485838, ENST00000485859, ENST00000486668, ENST00000491613, ENST00000492871, ENST00000493138, ENST00000493209, ENST00000495999, ENST00000498092, ENST00000498115
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.


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 1 1 1
Medium 2439 2986 1726 624 1950 465 4357 2192 3734 417 1458 1613 175 1 1204 2788 6 2
Low 4 5 2 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_000858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001159390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001159391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK124677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW083682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC091480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE780558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI771824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM790067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ638787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU162698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU194785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU931096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L76200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U66895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000312726   ⟹   ENSP00000317659
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,140,279 - 228,148,951 (+)Ensembl
RefSeq Acc Id: ENST00000366716   ⟹   ENSP00000355677
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,145,454 - 228,148,984 (+)Ensembl
RefSeq Acc Id: ENST00000366718   ⟹   ENSP00000355679
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,144,328 - 228,148,951 (+)Ensembl
RefSeq Acc Id: ENST00000366721   ⟹   ENSP00000355682
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,140,332 - 228,148,752 (+)Ensembl
RefSeq Acc Id: ENST00000366722   ⟹   ENSP00000355683
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,140,317 - 228,148,808 (+)Ensembl
RefSeq Acc Id: ENST00000366723   ⟹   ENSP00000355684
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,140,302 - 228,148,833 (+)Ensembl
RefSeq Acc Id: ENST00000366726   ⟹   ENSP00000355687
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,140,289 - 228,148,880 (+)Ensembl
RefSeq Acc Id: ENST00000366728   ⟹   ENSP00000355689
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,140,290 - 228,148,955 (+)Ensembl
RefSeq Acc Id: ENST00000366730   ⟹   ENSP00000355691
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,139,962 - 228,148,840 (+)Ensembl
RefSeq Acc Id: ENST00000391865   ⟹   ENSP00000375738
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,140,228 - 228,148,955 (+)Ensembl
RefSeq Acc Id: ENST00000412265   ⟹   ENSP00000407604
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,141,382 - 228,148,457 (+)Ensembl
RefSeq Acc Id: ENST00000435153   ⟹   ENSP00000403664
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,140,318 - 228,148,809 (+)Ensembl
RefSeq Acc Id: ENST00000453943   ⟹   ENSP00000401832
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,140,298 - 228,148,691 (+)Ensembl
RefSeq Acc Id: ENST00000460224
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,141,132 - 228,147,710 (+)Ensembl
RefSeq Acc Id: ENST00000462807
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,140,228 - 228,147,693 (+)Ensembl
RefSeq Acc Id: ENST00000464858
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,145,883 - 228,148,724 (+)Ensembl
RefSeq Acc Id: ENST00000465025
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,147,424 - 228,148,947 (+)Ensembl
RefSeq Acc Id: ENST00000469973
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,140,279 - 228,141,833 (+)Ensembl
RefSeq Acc Id: ENST00000470040
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,144,897 - 228,148,946 (+)Ensembl
RefSeq Acc Id: ENST00000471270
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,148,091 - 228,148,955 (+)Ensembl
RefSeq Acc Id: ENST00000472939
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,141,249 - 228,147,445 (+)Ensembl
RefSeq Acc Id: ENST00000477206
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,147,466 - 228,148,933 (+)Ensembl
RefSeq Acc Id: ENST00000478725
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,145,510 - 228,147,559 (+)Ensembl
RefSeq Acc Id: ENST00000480056
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,148,118 - 228,148,955 (+)Ensembl
RefSeq Acc Id: ENST00000481341
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,146,826 - 228,147,699 (+)Ensembl
RefSeq Acc Id: ENST00000484953
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,141,196 - 228,146,066 (+)Ensembl
RefSeq Acc Id: ENST00000485083
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,140,282 - 228,146,908 (+)Ensembl
RefSeq Acc Id: ENST00000485168
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,145,510 - 228,147,487 (+)Ensembl
RefSeq Acc Id: ENST00000485733
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,141,123 - 228,146,883 (+)Ensembl
RefSeq Acc Id: ENST00000485838
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,140,266 - 228,148,882 (+)Ensembl
RefSeq Acc Id: ENST00000485859
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,145,510 - 228,146,235 (+)Ensembl
RefSeq Acc Id: ENST00000486668
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,145,561 - 228,148,950 (+)Ensembl
RefSeq Acc Id: ENST00000491613
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,141,123 - 228,145,762 (+)Ensembl
RefSeq Acc Id: ENST00000492871
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,140,290 - 228,148,946 (+)Ensembl
RefSeq Acc Id: ENST00000493138
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,140,307 - 228,148,877 (+)Ensembl
RefSeq Acc Id: ENST00000493209
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,140,265 - 228,146,952 (+)Ensembl
RefSeq Acc Id: ENST00000495999
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,145,515 - 228,148,439 (+)Ensembl
RefSeq Acc Id: ENST00000498092
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,140,318 - 228,147,657 (+)Ensembl
RefSeq Acc Id: ENST00000498115
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1228,146,840 - 228,148,773 (+)Ensembl
RefSeq Acc Id: NM_000858   ⟹   NP_000849
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,140,279 - 228,148,951 (+)NCBI
GRCh371228,327,668 - 228,336,656 (+)NCBI
Build 361226,394,605 - 226,403,275 (+)NCBI Archive
HuRef1198,842,817 - 198,851,685 (+)ENTREZGENE
CHM1_11229,600,258 - 229,608,980 (+)NCBI
T2T-CHM13v2.01227,329,279 - 227,337,948 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001159390   ⟹   NP_001152862
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,140,279 - 228,148,951 (+)NCBI
GRCh371228,327,668 - 228,336,656 (+)NCBI
HuRef1198,842,817 - 198,851,685 (+)ENTREZGENE
CHM1_11229,600,258 - 229,608,980 (+)NCBI
T2T-CHM13v2.01227,329,279 - 227,337,948 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001159391   ⟹   NP_001152863
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,144,696 - 228,148,951 (+)NCBI
GRCh371228,327,668 - 228,336,656 (+)NCBI
HuRef1198,842,817 - 198,851,685 (+)ENTREZGENE
CHM1_11229,604,730 - 229,608,980 (+)NCBI
T2T-CHM13v2.01227,333,693 - 227,337,948 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001242839   ⟹   NP_001229768
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,140,084 - 228,148,955 (+)NCBI
GRCh371228,327,668 - 228,336,656 (+)NCBI
HuRef1198,842,817 - 198,851,685 (+)ENTREZGENE
CHM1_11229,600,114 - 229,608,980 (+)NCBI
T2T-CHM13v2.01227,329,084 - 227,337,952 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001242840   ⟹   NP_001229769
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,140,279 - 228,148,951 (+)NCBI
GRCh371228,327,668 - 228,336,656 (+)NCBI
HuRef1198,842,817 - 198,851,685 (+)ENTREZGENE
CHM1_11229,600,258 - 229,608,980 (+)NCBI
T2T-CHM13v2.01227,329,279 - 227,337,948 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005273104   ⟹   XP_005273161
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,140,279 - 228,148,955 (+)NCBI
GRCh371228,327,668 - 228,336,656 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047418686   ⟹   XP_047274642
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,140,279 - 228,148,955 (+)NCBI
RefSeq Acc Id: XM_047418687   ⟹   XP_047274643
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,140,279 - 228,148,955 (+)NCBI
RefSeq Acc Id: XM_047418688   ⟹   XP_047274644
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,140,279 - 228,148,955 (+)NCBI
RefSeq Acc Id: XM_047418690   ⟹   XP_047274646
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,140,279 - 228,148,955 (+)NCBI
RefSeq Acc Id: XM_047418691   ⟹   XP_047274647
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,140,279 - 228,148,955 (+)NCBI
RefSeq Acc Id: XM_047418693   ⟹   XP_047274649
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,140,279 - 228,148,955 (+)NCBI
RefSeq Acc Id: XM_047418694   ⟹   XP_047274650
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,144,696 - 228,148,955 (+)NCBI
RefSeq Acc Id: XM_047418696   ⟹   XP_047274652
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,140,279 - 228,148,955 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000849 (Get FASTA)   NCBI Sequence Viewer  
  NP_001152862 (Get FASTA)   NCBI Sequence Viewer  
  NP_001152863 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229768 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229769 (Get FASTA)   NCBI Sequence Viewer  
  XP_005273161 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274642 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274643 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274644 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274646 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274647 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274649 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274650 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274652 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC37598 (Get FASTA)   NCBI Sequence Viewer  
  AAC50659 (Get FASTA)   NCBI Sequence Viewer  
  AAH06249 (Get FASTA)   NCBI Sequence Viewer  
  AAH07369 (Get FASTA)   NCBI Sequence Viewer  
  AAH09914 (Get FASTA)   NCBI Sequence Viewer  
  AAH91480 (Get FASTA)   NCBI Sequence Viewer  
  BAG64788 (Get FASTA)   NCBI Sequence Viewer  
  CAG33117 (Get FASTA)   NCBI Sequence Viewer  
  CAG46803 (Get FASTA)   NCBI Sequence Viewer  
  CAH56207 (Get FASTA)   NCBI Sequence Viewer  
  EAW69851 (Get FASTA)   NCBI Sequence Viewer  
  EAW69852 (Get FASTA)   NCBI Sequence Viewer  
  EAW69853 (Get FASTA)   NCBI Sequence Viewer  
  EAW69854 (Get FASTA)   NCBI Sequence Viewer  
  EAW69855 (Get FASTA)   NCBI Sequence Viewer  
  EAW69856 (Get FASTA)   NCBI Sequence Viewer  
  EAW69857 (Get FASTA)   NCBI Sequence Viewer  
  EAW69858 (Get FASTA)   NCBI Sequence Viewer  
  EAW69859 (Get FASTA)   NCBI Sequence Viewer  
  Q16774 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001229768   ⟸   NM_001242839
- Peptide Label: isoform b
- UniProtKB: B1ANH1 (UniProtKB/Swiss-Prot),   Q16774 (UniProtKB/Swiss-Prot),   Q6IBG8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000849   ⟸   NM_000858
- Peptide Label: isoform b
- UniProtKB: B1ANH1 (UniProtKB/Swiss-Prot),   Q16774 (UniProtKB/Swiss-Prot),   Q6IBG8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001152862   ⟸   NM_001159390
- Peptide Label: isoform a
- UniProtKB: Q16774 (UniProtKB/Swiss-Prot),   Q6IBG8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001229769   ⟸   NM_001242840
- Peptide Label: isoform c
- UniProtKB: Q16774 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001152863   ⟸   NM_001159391
- Peptide Label: isoform b
- UniProtKB: B1ANH1 (UniProtKB/Swiss-Prot),   Q16774 (UniProtKB/Swiss-Prot),   Q6IBG8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005273161   ⟸   XM_005273104
- Peptide Label: isoform X2
- UniProtKB: A0A024R3U5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000407604   ⟸   ENST00000412265
RefSeq Acc Id: ENSP00000401832   ⟸   ENST00000453943
RefSeq Acc Id: ENSP00000317659   ⟸   ENST00000312726
RefSeq Acc Id: ENSP00000355691   ⟸   ENST00000366730
RefSeq Acc Id: ENSP00000355689   ⟸   ENST00000366728
RefSeq Acc Id: ENSP00000355687   ⟸   ENST00000366726
RefSeq Acc Id: ENSP00000355682   ⟸   ENST00000366721
RefSeq Acc Id: ENSP00000355683   ⟸   ENST00000366722
RefSeq Acc Id: ENSP00000355684   ⟸   ENST00000366723
RefSeq Acc Id: ENSP00000355679   ⟸   ENST00000366718
RefSeq Acc Id: ENSP00000355677   ⟸   ENST00000366716
RefSeq Acc Id: ENSP00000375738   ⟸   ENST00000391865
RefSeq Acc Id: ENSP00000403664   ⟸   ENST00000435153
RefSeq Acc Id: XP_047274642   ⟸   XM_047418686
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047274644   ⟸   XM_047418688
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047274652   ⟸   XM_047418696
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047274646   ⟸   XM_047418690
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047274643   ⟸   XM_047418687
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047274647   ⟸   XM_047418691
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047274649   ⟸   XM_047418693
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047274650   ⟸   XM_047418694
- Peptide Label: isoform X4
Protein Domains
Guanylate kinase-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q16774-F1-model_v2 AlphaFold Q16774 1-197 view protein structure

Promoters
RGD ID:6785048
Promoter ID:HG_KWN:7685
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000366721,   ENST00000366722,   ENST00000366723,   ENST00000366726,   ENST00000366727,   ENST00000366728,   ENST00000366729,   ENST00000366730,   NM_000858,   NM_001159390,   OTTHUMT00000095316,   OTTHUMT00000095317,   OTTHUMT00000095318,   OTTHUMT00000095319,   OTTHUMT00000095322,   OTTHUMT00000095935,   OTTHUMT00000095942,   OTTHUMT00000095947,   OTTHUMT00000095948,   UC001HSJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361226,394,136 - 226,394,687 (+)MPROMDB
RGD ID:6853038
Promoter ID:EP74340
Type:initiation region
Name:HS_GUK1
Description:Guanylate kinase 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361226,394,612 - 226,394,672EPD
RGD ID:6785690
Promoter ID:HG_KWN:7686
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000366719,   ENST00000366720,   OTTHUMT00000095936,   OTTHUMT00000095937,   OTTHUMT00000095938,   OTTHUMT00000095939,   OTTHUMT00000095940,   OTTHUMT00000095941
Position:
Human AssemblyChrPosition (strand)Source
Build 361226,394,691 - 226,395,962 (+)MPROMDB
RGD ID:6785689
Promoter ID:HG_KWN:7687
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000366716,   ENST00000366718,   OTTHUMT00000095313,   OTTHUMT00000095949,   OTTHUMT00000095951,   OTTHUMT00000095952,   OTTHUMT00000095954,   OTTHUMT00000095955,   OTTHUMT00000095956,   OTTHUMT00000095957,   OTTHUMT00000095958,   OTTHUMT00000095959,   OTTHUMT00000095960,   OTTHUMT00000095961,   OTTHUMT00000095962,   OTTHUMT00000095963,   OTTHUMT00000095964
Position:
Human AssemblyChrPosition (strand)Source
Build 361226,398,451 - 226,402,692 (+)MPROMDB
RGD ID:6859186
Promoter ID:EPDNEW_H2758
Type:initiation region
Name:GUK1_1
Description:guanylate kinase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2757  EPDNEW_H2759  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,140,279 - 228,140,339EPDNEW
RGD ID:6859188
Promoter ID:EPDNEW_H2759
Type:initiation region
Name:GUK1_3
Description:guanylate kinase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2757  EPDNEW_H2758  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,145,440 - 228,145,500EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41-42.13(chr1:221519280-228862141)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|See cases [RCV000053955] Chr1:221519280..228862141 [GRCh38]
Chr1:221692622..228997888 [GRCh37]
Chr1:219759245..227064511 [NCBI36]
Chr1:1q41-42.13
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q42.13(chr1:227613596-229249335)x4 copy number gain See cases [RCV000134940] Chr1:227613596..229249335 [GRCh38]
Chr1:227801297..229385082 [GRCh37]
Chr1:225867920..227451705 [NCBI36]
Chr1:1q42.13
likely pathogenic|uncertain significance
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1 copy number loss See cases [RCV000135796] Chr1:226185124..232872488 [GRCh38]
Chr1:226372825..233008234 [GRCh37]
Chr1:224439448..231074857 [NCBI36]
Chr1:1q42.12-42.2
pathogenic
GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1 copy number loss See cases [RCV000136636] Chr1:223347693..228556332 [GRCh38]
Chr1:223521035..228744033 [GRCh37]
Chr1:221587658..226810656 [NCBI36]
Chr1:1q41-42.13
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44
pathogenic
GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1 copy number loss See cases [RCV000143223] Chr1:225382172..230418801 [GRCh38]
Chr1:225569874..230554547 [GRCh37]
Chr1:223636497..228621170 [NCBI36]
Chr1:1q42.12-42.13
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13
pathogenic
GRCh38/hg38 1q42.13(chr1:228148416-228372055)x1 copy number loss Ductal breast carcinoma [RCV000207146] Chr1:228148416..228372055 [GRCh38]
Chr1:228336115..228559754 [GRCh37]
Chr1:1q42.13
uncertain significance
GRCh37/hg19 1q42.12-42.13(chr1:226871745-229906954)x1 copy number loss See cases [RCV000240001] Chr1:226871745..229906954 [GRCh37]
Chr1:1q42.12-42.13
uncertain significance
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44
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 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44
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 1q42.13(chr1:227774916-228335196)x3 copy number gain See cases [RCV000511279] Chr1:227774916..228335196 [GRCh37]
Chr1:1q42.13
uncertain significance
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q42.13(chr1:227696109-229152386)x3 copy number gain not provided [RCV000684706] Chr1:227696109..229152386 [GRCh37]
Chr1:1q42.13
likely 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 1q42.13(chr1:228260287-228617063)x1 copy number loss not provided [RCV000736887] Chr1:228260287..228617063 [GRCh37]
Chr1:1q42.13
benign
GRCh37/hg19 1q42.13(chr1:228336130-228402121)x3 copy number gain not provided [RCV000736888] Chr1:228336130..228402121 [GRCh37]
Chr1:1q42.13
benign
GRCh37/hg19 1q42.13(chr1:228336130-228404818)x3 copy number gain not provided [RCV000736889] Chr1:228336130..228404818 [GRCh37]
Chr1:1q42.13
benign
GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1 copy number loss not provided [RCV001005180] Chr1:223653722..234591807 [GRCh37]
Chr1:1q41-42.2
pathogenic
GRCh37/hg19 1q42.13(chr1:228297613-228703236) copy number gain Aortic valve disease 1 [RCV000770940] Chr1:228297613..228703236 [GRCh37]
Chr1:1q42.13
uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
GRCh37/hg19 1q42.13(chr1:228235107-228983659)x3 copy number gain not provided [RCV000848102] Chr1:228235107..228983659 [GRCh37]
Chr1:1q42.13
uncertain significance
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 copy number gain not provided [RCV001005175] Chr1:219916966..239004378 [GRCh37]
Chr1:1q41-43
pathogenic
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44
pathogenic
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
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 1q42.13-42.2(chr1:228214912-231483538) copy number loss not specified [RCV002052889] Chr1:228214912..231483538 [GRCh37]
Chr1:1q42.13-42.2
pathogenic
GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227) copy number loss not specified [RCV002052878] Chr1:226131690..231908227 [GRCh37]
Chr1:1q42.12-42.2
likely pathogenic
NC_000001.10:g.(?_228194830)_(228566496_?)dup duplication Multiple mitochondrial dysfunctions syndrome 3 [RCV001943243]|not provided [RCV001919147] Chr1:228194830..228566496 [GRCh37]
Chr1:1q42.13
uncertain significance
GRCh37/hg19 1q42.13(chr1:227782268-229506509)x1 copy number loss not provided [RCV001795846] Chr1:227782268..229506509 [GRCh37]
Chr1:1q42.13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4693 AgrOrtholog
COSMIC GUK1 COSMIC
Ensembl Genes ENSG00000143774 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000317659 ENTREZGENE
  ENSP00000317659.4 UniProtKB/Swiss-Prot
  ENSP00000355677.1 UniProtKB/Swiss-Prot
  ENSP00000355679 ENTREZGENE
  ENSP00000355679.1 UniProtKB/Swiss-Prot
  ENSP00000355682.1 UniProtKB/TrEMBL
  ENSP00000355683.1 UniProtKB/TrEMBL
  ENSP00000355684.2 UniProtKB/TrEMBL
  ENSP00000355687.1 UniProtKB/Swiss-Prot
  ENSP00000355689 ENTREZGENE
  ENSP00000355689.2 UniProtKB/Swiss-Prot
  ENSP00000355691 ENTREZGENE
  ENSP00000355691.1 UniProtKB/Swiss-Prot
  ENSP00000375738 ENTREZGENE
  ENSP00000375738.3 UniProtKB/Swiss-Prot
  ENSP00000401832.1 UniProtKB/TrEMBL
  ENSP00000403664 ENTREZGENE
  ENSP00000403664.1 UniProtKB/TrEMBL
  ENSP00000407604 ENTREZGENE
  ENSP00000407604.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000312726 ENTREZGENE
  ENST00000312726.9 UniProtKB/Swiss-Prot
  ENST00000366716.1 UniProtKB/Swiss-Prot
  ENST00000366718 ENTREZGENE
  ENST00000366718.5 UniProtKB/Swiss-Prot
  ENST00000366721.5 UniProtKB/TrEMBL
  ENST00000366722.5 UniProtKB/TrEMBL
  ENST00000366723.5 UniProtKB/TrEMBL
  ENST00000366726.5 UniProtKB/Swiss-Prot
  ENST00000366728 ENTREZGENE
  ENST00000366728.6 UniProtKB/Swiss-Prot
  ENST00000366730 ENTREZGENE
  ENST00000366730.5 UniProtKB/Swiss-Prot
  ENST00000391865 ENTREZGENE
  ENST00000391865.7 UniProtKB/Swiss-Prot
  ENST00000412265 ENTREZGENE
  ENST00000412265.5 UniProtKB/TrEMBL
  ENST00000435153 ENTREZGENE
  ENST00000435153.5 UniProtKB/TrEMBL
  ENST00000453943.5 UniProtKB/TrEMBL
  ENST00000486668 ENTREZGENE
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000143774 GTEx
HGNC ID HGNC:4693 ENTREZGENE
Human Proteome Map GUK1 Human Proteome Map
InterPro GK/Ca_channel_bsu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Guanylate_kin-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Guanylate_kinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Guanylate_kinase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2987 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2987 ENTREZGENE
OMIM 139270 OMIM
Pfam Guanylate_kin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29072 PharmGKB
PROSITE GUANYLATE_KINASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GUANYLATE_KINASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART GuKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs guanyl_kin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R3U5 ENTREZGENE, UniProtKB/TrEMBL
  B1ANG9_HUMAN UniProtKB/TrEMBL
  B1ANH0_HUMAN UniProtKB/TrEMBL
  B1ANH1 ENTREZGENE
  B1ANH2_HUMAN UniProtKB/TrEMBL
  B1ANH3_HUMAN UniProtKB/TrEMBL
  B1ANH5_HUMAN UniProtKB/TrEMBL
  B1ANH6_HUMAN UniProtKB/TrEMBL
  KGUA_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6IBG8 ENTREZGENE, UniProtKB/TrEMBL
  Q96IN2_HUMAN UniProtKB/TrEMBL
UniProt Secondary A0A024R3S8 UniProtKB/TrEMBL
  B1ANH1 UniProtKB/Swiss-Prot