AGTPBP1 (ATP/GTP binding carboxypeptidase 1) - Rat Genome Database

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Gene: AGTPBP1 (ATP/GTP binding carboxypeptidase 1) Homo sapiens
Analyze
Symbol: AGTPBP1
Name: ATP/GTP binding carboxypeptidase 1
RGD ID: 1314853
HGNC Page HGNC
Description: Predicted to have metallocarboxypeptidase activity and tubulin binding activity. Involved in protein deglutamylation. Localizes to cytoplasm and nucleolus.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: ATP/GTP binding protein 1; ATP/GTP-binding protein 1; carboxypeptidase-tubulin; CCP1; CONDCA; cytosolic carboxypeptidase 1; DKFZp686M20191; KIAA1035; nervous system nuclear protein induced by axotomy; nervous system nuclear protein induced by axotomy protein 1 homolog; NNA1; soluble carboxypeptidase; tubulinyl-Tyr carboxypeptidase; tyrosine carboxypeptidase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl985,546,539 - 85,742,029 (-)EnsemblGRCh38hg38GRCh38
GRCh38985,546,539 - 85,742,029 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37988,161,454 - 88,356,944 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36987,351,275 - 87,546,709 (-)NCBINCBI36hg18NCBI36
Build 34985,391,008 - 85,586,443NCBI
Celera958,731,693 - 58,927,167 (-)NCBI
Cytogenetic Map9q21.33NCBI
HuRef957,985,670 - 58,181,366 (-)NCBIHuRef
CHM1_1988,308,168 - 88,503,654 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


References

Additional References at PubMed
PMID:10470851   PMID:11083920   PMID:11884758   PMID:12477932   PMID:14702039   PMID:15146197   PMID:15302935   PMID:15385968   PMID:16344560   PMID:16713569   PMID:17043677   PMID:21873635  
PMID:23085998   PMID:23242554   PMID:23414517   PMID:25381060   PMID:25609649   PMID:25659891   PMID:25798074   PMID:26186194   PMID:26638075   PMID:26673895   PMID:27880917   PMID:28065597  
PMID:28190767   PMID:28514442   PMID:29348145   PMID:29511261   PMID:29576527   PMID:30021884   PMID:30420557   PMID:30976113   PMID:31343991   PMID:31753913  


Genomics

Comparative Map Data
AGTPBP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl985,546,539 - 85,742,029 (-)EnsemblGRCh38hg38GRCh38
GRCh38985,546,539 - 85,742,029 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37988,161,454 - 88,356,944 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36987,351,275 - 87,546,709 (-)NCBINCBI36hg18NCBI36
Build 34985,391,008 - 85,586,443NCBI
Celera958,731,693 - 58,927,167 (-)NCBI
Cytogenetic Map9q21.33NCBI
HuRef957,985,670 - 58,181,366 (-)NCBIHuRef
CHM1_1988,308,168 - 88,503,654 (-)NCBICHM1_1
Agtpbp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391359,597,348 - 59,705,184 (-)NCBIGRCm39mm39
GRCm39 Ensembl1359,593,556 - 59,733,041 (-)Ensembl
GRCm381359,449,534 - 59,557,370 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1359,445,742 - 59,585,227 (-)EnsemblGRCm38mm10GRCm38
MGSCv371359,550,896 - 59,658,680 (-)NCBIGRCm37mm9NCBIm37
MGSCv361359,459,518 - 59,566,909 (-)NCBImm8
Celera1360,505,890 - 60,600,548 (-)NCBICelera
Cytogenetic Map13B2NCBI
cM Map1331.87NCBI
Agtpbp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2175,120,540 - 5,238,874 (+)NCBI
Rnor_6.0 Ensembl175,511,385 - 5,614,435 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0175,510,009 - 5,614,416 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0177,722,385 - 7,837,764 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41711,040,339 - 11,155,923 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11711,063,063 - 11,155,645 (+)NCBI
Celera175,254,268 - 5,358,824 (+)NCBICelera
Cytogenetic Map17p14NCBI
Agtpbp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554321,628,913 - 1,818,454 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554321,628,966 - 1,816,373 (+)NCBIChiLan1.0ChiLan1.0
AGTPBP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1984,871,571 - 85,049,056 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl984,871,450 - 85,037,897 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0939,161,182 - 39,357,043 (+)NCBIMhudiblu_PPA_v0panPan3
AGTPBP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1173,853,491 - 74,030,075 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl173,887,934 - 74,107,312 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha174,616,116 - 74,795,461 (+)NCBI
ROS_Cfam_1.0174,158,469 - 74,338,565 (+)NCBI
UMICH_Zoey_3.1173,967,595 - 74,147,352 (+)NCBI
UNSW_CanFamBas_1.0173,736,759 - 73,916,152 (+)NCBI
UU_Cfam_GSD_1.0174,439,370 - 74,619,422 (+)NCBI
Agtpbp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947120,497,104 - 120,673,188 (+)NCBI
SpeTri2.0NW_0049366801,065,375 - 1,240,909 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AGTPBP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1029,440,145 - 29,590,454 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11029,440,150 - 29,590,457 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21033,515,965 - 33,666,698 (+)NCBISscrofa10.2Sscrofa10.2susScr3
AGTPBP1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11296,342,193 - 96,534,981 (-)NCBI
ChlSab1.1 Ensembl1296,342,759 - 96,534,800 (-)Ensembl
Agtpbp1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248099,119,412 - 9,321,226 (-)NCBI

Position Markers
D9S1865  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37988,254,199 - 88,254,348UniSTSGRCh37
Build 36987,444,019 - 87,444,168RGDNCBI36
Celera958,824,418 - 58,824,569RGD
Cytogenetic Map9q21.33UniSTS
HuRef958,078,492 - 58,078,643UniSTS
Marshfield Genetic Map987.29RGD
Marshfield Genetic Map987.29UniSTS
Genethon Genetic Map986.6UniSTS
Whitehead-YAC Contig Map9 UniSTS
RH65354  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37988,226,182 - 88,226,357UniSTSGRCh37
Build 36987,416,002 - 87,416,177RGDNCBI36
Celera958,796,407 - 58,796,582RGD
Cytogenetic Map9q21.33UniSTS
HuRef958,050,483 - 58,050,658UniSTS
GeneMap99-GB4 RH Map9276.53UniSTS
NCBI RH Map9748.3UniSTS
RH11900  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37988,161,881 - 88,162,036UniSTSGRCh37
Build 36987,351,701 - 87,351,856RGDNCBI36
Celera958,732,120 - 58,732,275RGD
Cytogenetic Map9q21.33UniSTS
HuRef957,986,097 - 57,986,252UniSTS
GeneMap99-GB4 RH Map9276.42UniSTS
RH99172  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37988,161,513 - 88,161,667UniSTSGRCh37
Build 36987,351,333 - 87,351,487RGDNCBI36
Celera958,731,752 - 58,731,906RGD
Cytogenetic Map9q21.33UniSTS
HuRef957,985,729 - 57,985,883UniSTS
GeneMap99-GB4 RH Map9276.53UniSTS
D9S1067E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37988,168,327 - 88,168,429UniSTSGRCh37
Build 36987,358,147 - 87,358,249RGDNCBI36
Celera958,738,566 - 58,738,668RGD
Cytogenetic Map9q21.33UniSTS
HuRef957,992,543 - 57,992,645UniSTS
G20277  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37988,166,676 - 88,166,783UniSTSGRCh37
Build 36987,356,496 - 87,356,603RGDNCBI36
Celera958,736,915 - 58,737,022RGD
Cytogenetic Map9q21.33UniSTS
HuRef957,990,892 - 57,990,999UniSTS
A005K03  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37988,166,676 - 88,166,783UniSTSGRCh37
Build 36987,356,496 - 87,356,603RGDNCBI36
Celera958,736,915 - 58,737,022RGD
Cytogenetic Map9q21.33UniSTS
HuRef957,990,892 - 57,990,999UniSTS
GeneMap99-GB4 RH Map9276.53UniSTS
NCBI RH Map9748.3UniSTS
D9S1981  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37988,166,602 - 88,166,886UniSTSGRCh37
Build 36987,356,422 - 87,356,706RGDNCBI36
Celera958,736,841 - 58,737,125RGD
Cytogenetic Map9q21.33UniSTS
HuRef957,990,818 - 57,991,102UniSTS
GeneMap99-GB4 RH Map9276.53UniSTS
Whitehead-RH Map9318.3UniSTS
Whitehead-YAC Contig Map9 UniSTS
NCBI RH Map9748.3UniSTS
D9S954  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37988,161,438 - 88,161,545UniSTSGRCh37
Build 36987,351,258 - 87,351,365RGDNCBI36
Celera958,731,677 - 58,731,784RGD
Cytogenetic Map9q21.33UniSTS
HuRef957,985,654 - 57,985,761UniSTS
Whitehead-YAC Contig Map9 UniSTS
A006N11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37988,168,507 - 88,168,613UniSTSGRCh37
Build 36987,358,327 - 87,358,433RGDNCBI36
Celera958,738,746 - 58,738,852RGD
Cytogenetic Map9q21.33UniSTS
HuRef957,992,723 - 57,992,829UniSTS
GeneMap99-GB4 RH Map9276.53UniSTS
NCBI RH Map9748.3UniSTS
AGTPBP1__4266  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37988,161,410 - 88,162,165UniSTSGRCh37
Build 36987,351,230 - 87,351,985RGDNCBI36
Celera958,731,649 - 58,732,404RGD
HuRef957,985,626 - 57,986,381UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2118
Count of miRNA genes:896
Interacting mature miRNAs:1035
Transcripts:ENST00000337006, ENST00000357081, ENST00000376080, ENST00000376081, ENST00000376083, ENST00000376109, ENST00000432218, ENST00000489265, ENST00000491784
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 360 1975 412 56 1718 50 2565 499 2550 143 735 1081 18 1 929 1593 3
Low 2079 1014 1313 567 233 414 1792 1696 1184 276 725 532 156 275 1195 3 2
Below cutoff 2 1 1 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001286715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB028958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ420433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ437018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL451131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC060815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA449535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN354118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN354120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA326833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB078109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC334722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000337006   ⟹   ENSP00000338512
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl985,546,540 - 85,742,029 (-)Ensembl
RefSeq Acc Id: ENST00000357081   ⟹   ENSP00000349592
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl985,546,542 - 85,741,886 (-)Ensembl
RefSeq Acc Id: ENST00000376080
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl985,657,454 - 85,692,780 (-)Ensembl
RefSeq Acc Id: ENST00000376081
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl985,655,216 - 85,741,888 (-)Ensembl
RefSeq Acc Id: ENST00000376083   ⟹   ENSP00000365251
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl985,546,539 - 85,741,818 (-)Ensembl
RefSeq Acc Id: ENST00000489265
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl985,553,873 - 85,579,025 (-)Ensembl
RefSeq Acc Id: ENST00000491784
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl985,657,438 - 85,692,792 (-)Ensembl
RefSeq Acc Id: ENST00000628899   ⟹   ENSP00000487074
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl985,546,671 - 85,742,029 (-)Ensembl
RefSeq Acc Id: NM_001286715   ⟹   NP_001273644
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,742,029 (-)NCBI
HuRef957,985,670 - 58,181,366 (-)NCBI
CHM1_1988,308,168 - 88,503,654 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001286717   ⟹   NP_001273646
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,742,029 (-)NCBI
HuRef957,985,670 - 58,181,366 (-)NCBI
CHM1_1988,308,168 - 88,503,654 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330701   ⟹   NP_001317630
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,741,954 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015239   ⟹   NP_056054
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,741,954 (-)NCBI
GRCh37988,161,454 - 88,356,944 (-)RGD
Build 36987,351,275 - 87,546,709 (-)NCBI Archive
Celera958,731,693 - 58,927,167 (-)RGD
HuRef957,985,670 - 58,181,366 (-)RGD
CHM1_1988,308,168 - 88,503,654 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005251848   ⟹   XP_005251905
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,741,651 (-)NCBI
GRCh37988,161,454 - 88,356,944 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005251849   ⟹   XP_005251906
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,741,963 (-)NCBI
GRCh37988,161,454 - 88,356,944 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518418   ⟹   XP_011516720
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,551,683 - 85,741,975 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518420   ⟹   XP_011516722
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,654,575 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518421   ⟹   XP_011516723
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,621,202 - 85,741,975 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014545   ⟹   XP_016870034
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,551,695 - 85,741,975 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014546   ⟹   XP_016870035
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,741,926 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014547   ⟹   XP_016870036
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,551,695 - 85,741,963 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014548   ⟹   XP_016870037
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,741,884 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014549   ⟹   XP_016870038
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,551,695 - 85,741,963 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014550   ⟹   XP_016870039
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,621,700 - 85,741,975 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447472   ⟹   XP_024303240
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,539 - 85,741,897 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001746261
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,546,852 - 85,741,975 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001273644 (Get FASTA)   NCBI Sequence Viewer  
  NP_001273646 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317630 (Get FASTA)   NCBI Sequence Viewer  
  NP_056054 (Get FASTA)   NCBI Sequence Viewer  
  XP_005251905 (Get FASTA)   NCBI Sequence Viewer  
  XP_005251906 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516720 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516722 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516723 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870034 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870035 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870036 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870037 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870038 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870039 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303240 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH60815 (Get FASTA)   NCBI Sequence Viewer  
  BAA82987 (Get FASTA)   NCBI Sequence Viewer  
  BAA91749 (Get FASTA)   NCBI Sequence Viewer  
  BAB14100 (Get FASTA)   NCBI Sequence Viewer  
  BAB14505 (Get FASTA)   NCBI Sequence Viewer  
  BAG58284 (Get FASTA)   NCBI Sequence Viewer  
  BAG58598 (Get FASTA)   NCBI Sequence Viewer  
  BAG61460 (Get FASTA)   NCBI Sequence Viewer  
  CAD24587 (Get FASTA)   NCBI Sequence Viewer  
  CAH56158 (Get FASTA)   NCBI Sequence Viewer  
  CAH56222 (Get FASTA)   NCBI Sequence Viewer  
  EAW62694 (Get FASTA)   NCBI Sequence Viewer  
  EAW62695 (Get FASTA)   NCBI Sequence Viewer  
  EAW62696 (Get FASTA)   NCBI Sequence Viewer  
  EAW62697 (Get FASTA)   NCBI Sequence Viewer  
  EAW62698 (Get FASTA)   NCBI Sequence Viewer  
  EAW62699 (Get FASTA)   NCBI Sequence Viewer  
  Q9UPW5 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_056054   ⟸   NM_015239
- Peptide Label: isoform b
- UniProtKB: Q9UPW5 (UniProtKB/Swiss-Prot),   A0A024R288 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005251906   ⟸   XM_005251849
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_005251905   ⟸   XM_005251848
- Peptide Label: isoform X1
- UniProtKB: Q9UPW5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001273646   ⟸   NM_001286717
- Peptide Label: isoform c
- UniProtKB: Q9UPW5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001273644   ⟸   NM_001286715
- Peptide Label: isoform a
- UniProtKB: Q9UPW5 (UniProtKB/Swiss-Prot),   J3KNS1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011516722   ⟸   XM_011518420
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011516720   ⟸   XM_011518418
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011516723   ⟸   XM_011518421
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016870035   ⟸   XM_017014546
- Peptide Label: isoform X5
- UniProtKB: Q9UPW5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016870037   ⟸   XM_017014548
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016870034   ⟸   XM_017014545
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016870038   ⟸   XM_017014549
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016870036   ⟸   XM_017014547
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016870039   ⟸   XM_017014550
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: NP_001317630   ⟸   NM_001330701
- Peptide Label: isoform d
- UniProtKB: Q9UPW5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024303240   ⟸   XM_024447472
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: ENSP00000365251   ⟸   ENST00000376083
RefSeq Acc Id: ENSP00000338512   ⟸   ENST00000337006
RefSeq Acc Id: ENSP00000487074   ⟸   ENST00000628899
RefSeq Acc Id: ENSP00000349592   ⟸   ENST00000357081
Protein Domains
Pepdidase_M14_N   Peptidase_M14

Promoters
RGD ID:7215363
Promoter ID:EPDNEW_H13428
Type:initiation region
Name:AGTPBP1_1
Description:ATP/GTP binding protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38985,742,270 - 85,742,330EPDNEW
RGD ID:6807533
Promoter ID:HG_KWN:63867
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:ENST00000337006,   ENST00000357081,   ENST00000376081,   ENST00000376082,   ENST00000376109,   ENST00000395847,   NM_015239
Position:
Human AssemblyChrPosition (strand)Source
Build 36987,546,446 - 87,547,417 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_015239.2(AGTPBP1):c.2308C>T (p.His770Tyr) single nucleotide variant Malignant melanoma [RCV000068726] Chr9:85592700 [GRCh38]
Chr9:88207615 [GRCh37]
Chr9:87397435 [NCBI36]
Chr9:9q21.33
not provided
NM_015239.2(AGTPBP1):c.2862C>T (p.Tyr954=) single nucleotide variant Malignant melanoma [RCV000061966] Chr9:85586882 [GRCh38]
Chr9:88201797 [GRCh37]
Chr9:87391617 [NCBI36]
Chr9:9q21.33
not provided
NM_001286715.1(AGTPBP1):c.3660-10980A>G single nucleotide variant Lung cancer [RCV000108455] Chr9:85558266 [GRCh38]
Chr9:88173181 [GRCh37]
Chr9:9q21.33
uncertain significance
NM_001286715.1(AGTPBP1):c.2171+4479G>A single nucleotide variant Lung cancer [RCV000108456] Chr9:85628183 [GRCh38]
Chr9:88243098 [GRCh37]
Chr9:9q21.33
uncertain significance
NM_001286715.1(AGTPBP1):c.1244-687G>A single nucleotide variant Lung cancer [RCV000108457] Chr9:85647105 [GRCh38]
Chr9:88262020 [GRCh37]
Chr9:9q21.33
uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2
pathogenic
GRCh38/hg38 9q21.33(chr9:84837661-85740938)x3 copy number gain See cases [RCV000137177] Chr9:84837661..85740938 [GRCh38]
Chr9:87452576..88355853 [GRCh37]
Chr9:86642396..87545673 [NCBI36]
Chr9:9q21.33
uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh38/hg38 9q21.33(chr9:84861055-86784049)x1 copy number loss See cases [RCV000139131] Chr9:84861055..86784049 [GRCh38]
Chr9:87475970..89398964 [GRCh37]
Chr9:86665790..88588784 [NCBI36]
Chr9:9q21.33
uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9q21.33(chr9:84837563-85740812)x3 copy number gain See cases [RCV000139509] Chr9:84837563..85740812 [GRCh38]
Chr9:87452478..88355727 [GRCh37]
Chr9:86642298..87545547 [NCBI36]
Chr9:9q21.33
uncertain significance
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3
pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q21.33(chr9:85169032-85669572)x3 copy number gain See cases [RCV000143147] Chr9:85169032..85669572 [GRCh38]
Chr9:87783947..88284487 [GRCh37]
Chr9:86973767..87474307 [NCBI36]
Chr9:9q21.33
uncertain significance
GRCh38/hg38 9q21.33(chr9:84797249-85664850)x3 copy number gain See cases [RCV000143535] Chr9:84797249..85664850 [GRCh38]
Chr9:87412164..88279765 [GRCh37]
Chr9:86601984..87469585 [NCBI36]
Chr9:9q21.33
uncertain significance|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_001286715.1(AGTPBP1):c.2492-1G>T single nucleotide variant AGTPBP1-related condition [RCV000625986]|Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV000735994] Chr9:85596450 [GRCh38]
Chr9:88211365 [GRCh37]
Chr9:9q21.33
pathogenic
NM_015239.2(AGTPBP1):c.2632C>T (p.Arg878Trp) single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV000736000] Chr9:85588449 [GRCh38]
Chr9:88203364 [GRCh37]
Chr9:9q21.33
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_001286715.1(AGTPBP1):c.566C>A (p.Ser189Tyr) single nucleotide variant not provided [RCV000509215] Chr9:85677462 [GRCh38]
Chr9:88292377 [GRCh37]
Chr9:9q21.33
not provided
NM_001286715.1(AGTPBP1):c.2892del (p.Tyr964Terfs) deletion AGTPBP1-related condition [RCV000625987]|Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV000735995] Chr9:85588465 [GRCh38]
Chr9:88203380 [GRCh37]
Chr9:9q21.33
pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3
likely pathogenic
GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4 copy number gain See cases [RCV000512280] Chr9:70966262..90761254 [GRCh37]
Chr9:9q21.11-22.1
pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_015239.2(AGTPBP1):c.2446C>T (p.Gln816Ter) single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV000735996] Chr9:85592562 [GRCh38]
Chr9:88207477 [GRCh37]
Chr9:9q21.33
pathogenic
NM_001330701.1(AGTPBP1):c.2552C>T (p.Thr851Met) single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV000735997] Chr9:85592576 [GRCh38]
Chr9:88207491 [GRCh37]
Chr9:9q21.33
pathogenic
NM_015239.2(AGTPBP1):c.2242C>T (p.Gln748Ter) single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV000735999]|Neurodevelopmental disorder with cerebellar atrophy and with or without seizures [RCV001254700] Chr9:85596423 [GRCh38]
Chr9:88211338 [GRCh37]
Chr9:9q21.33
pathogenic|likely pathogenic
NM_015239.2(AGTPBP1):c.2849A>T (p.His950Leu) single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV000735998] Chr9:85586895 [GRCh38]
Chr9:88201810 [GRCh37]
Chr9:9q21.33
pathogenic
NM_015239.2(AGTPBP1):c.1960T>G (p.Tyr654Asp) single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV000736001] Chr9:85621221 [GRCh38]
Chr9:88236136 [GRCh37]
Chr9:9q21.33
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q21.33(chr9:88277116-88460986)x3 copy number gain not provided [RCV000748502] Chr9:88277116..88460986 [GRCh37]
Chr9:9q21.33
benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_001286715.1(AGTPBP1):c.2351A>G (p.Tyr784Cys) single nucleotide variant Global developmental delay [RCV000767881] Chr9:85619123 [GRCh38]
Chr9:88234038 [GRCh37]
Chr9:9q21.33
likely pathogenic
GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274) copy number gain not provided [RCV000767645] Chr9:79520825..97201274 [GRCh37]
Chr9:9q21.2-22.32
pathogenic
NM_015239.2(AGTPBP1):c.2066+2T>G single nucleotide variant Global developmental delay [RCV000767880] Chr9:85619213 [GRCh38]
Chr9:88234128 [GRCh37]
Chr9:9q21.33
likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_001286715.1(AGTPBP1):c.2998C>T (p.Arg1000Ter) single nucleotide variant Global developmental delay [RCV000786855] Chr9:85588359 [GRCh38]
Chr9:88203274 [GRCh37]
Chr9:9q21.33
pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3
pathogenic
GRCh37/hg19 9q21.33(chr9:88272435-88377423)x3 copy number gain not provided [RCV000846855] Chr9:88272435..88377423 [GRCh37]
Chr9:9q21.33
uncertain significance
GRCh37/hg19 9q21.32-21.33(chr9:86434567-88413614)x3 copy number gain not provided [RCV000846141] Chr9:86434567..88413614 [GRCh37]
Chr9:9q21.32-21.33
uncertain significance
NM_001330701.2(AGTPBP1):c.2395C>T (p.Arg799Cys) single nucleotide variant Neurodevelopmental disorder with cerebellar atrophy and with or without seizures [RCV001254701] Chr9:85596390 [GRCh38]
Chr9:88211305 [GRCh37]
Chr9:9q21.33
uncertain significance
NM_001330701.2(AGTPBP1):c.820_821del (p.Gln274fs) deletion Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV001265647] Chr9:85657523..85657524 [GRCh38]
Chr9:88272438..88272439 [GRCh37]
Chr9:9q21.33
pathogenic
NM_001330701.2(AGTPBP1):c.1240C>T (p.Arg414Ter) single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV001263149] Chr9:85642889 [GRCh38]
Chr9:88257804 [GRCh37]
Chr9:9q21.33
pathogenic
NM_001330701.2(AGTPBP1):c.2396G>T (p.Arg799Leu) single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV001263150] Chr9:85596389 [GRCh38]
Chr9:88211304 [GRCh37]
Chr9:9q21.33
likely pathogenic
GRCh37/hg19 9q21.33(chr9:88201316-88224515)x1 copy number loss See cases [RCV001263057] Chr9:88201316..88224515 [GRCh37]
Chr9:9q21.33
pathogenic
NM_001330701.2(AGTPBP1):c.437-3C>A single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV001330543] Chr9:85672684 [GRCh38]
Chr9:88287599 [GRCh37]
Chr9:9q21.33
uncertain significance
NM_001330701.2(AGTPBP1):c.1606C>T (p.Arg536Ter) single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV001330541] Chr9:85633071 [GRCh38]
Chr9:88247986 [GRCh37]
Chr9:9q21.33
likely pathogenic
NM_001286715.1(AGTPBP1):c.11_26dup (p.Ser9fs) duplication not provided [RCV001280746] Chr9:85741936..85741937 [GRCh38]
Chr9:88356851..88356852 [GRCh37]
Chr9:9q21.33
uncertain significance
NM_001330701.2(AGTPBP1):c.2843G>A (p.Arg948Gln) single nucleotide variant Neurodegeneration, childhood-onset, with cerebellar atrophy [RCV001330542] Chr9:85588358 [GRCh38]
Chr9:88203273 [GRCh37]
Chr9:9q21.33
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17258 AgrOrtholog
COSMIC AGTPBP1 COSMIC
Ensembl Genes ENSG00000135049 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000338512 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000349592 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000365251 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000487074 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000337006 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000357081 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000376083 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000628899 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000135049 GTEx
HGNC ID HGNC:17258 ENTREZGENE
Human Proteome Map AGTPBP1 Human Proteome Map
InterPro ARM-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CBPC1/4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pepdidase_M14_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23287 UniProtKB/Swiss-Prot
NCBI Gene 23287 ENTREZGENE
OMIM 606830 OMIM
  618276 OMIM
Pfam Pepdidase_M14_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24630 PharmGKB
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R288 ENTREZGENE, UniProtKB/TrEMBL
  CBPC1_HUMAN UniProtKB/Swiss-Prot
  J3KNS1 ENTREZGENE, UniProtKB/TrEMBL
  Q9UPW5 ENTREZGENE
UniProt Secondary B4DIT6 UniProtKB/Swiss-Prot
  B4DRZ8 UniProtKB/Swiss-Prot
  Q5VV80 UniProtKB/Swiss-Prot
  Q63HM7 UniProtKB/Swiss-Prot
  Q658P5 UniProtKB/Swiss-Prot
  Q6P9D6 UniProtKB/Swiss-Prot
  Q9H8U6 UniProtKB/Swiss-Prot
  Q9H9W8 UniProtKB/Swiss-Prot
  Q9NVK1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-02-08 AGTPBP1  ATP/GTP binding carboxypeptidase 1  AGTPBP1  ATP/GTP binding protein 1  Symbol and/or name change 19259463 PROVISIONAL