TPGS1 (tubulin polyglutamylase complex subunit 1) - Rat Genome Database

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Gene: TPGS1 (tubulin polyglutamylase complex subunit 1) Homo sapiens
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Symbol: TPGS1
Name: tubulin polyglutamylase complex subunit 1
RGD ID: 1323455
HGNC Page HGNC:25058
Description: Predicted to enable microtubule binding activity and tubulin-glutamic acid ligase activity. Predicted to be involved in sperm axoneme assembly. Predicted to act upstream of or within several processes, including adult behavior; chemical synaptic transmission; and protein polyglutamylation. Located in centrosome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C19orf20; gene trap ROSA b-geo 22; GTRGEO22; PGs1; polyglutamylase subunit 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3819507,497 - 519,654 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl19507,497 - 519,654 (+)EnsemblGRCh38hg38GRCh38
GRCh3719507,497 - 519,654 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3619458,497 - 470,654 (+)NCBINCBI36Build 36hg18NCBI36
Celera19297,964 - 310,121 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef19277,653 - 289,928 (+)NCBIHuRef
CHM1_119507,000 - 518,651 (+)NCBICHM1_1
T2T-CHM13v2.019460,069 - 472,226 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11441184   PMID:12477932   PMID:12972506   PMID:14702039   PMID:15489334   PMID:16341674   PMID:21399614   PMID:21873635   PMID:23443559   PMID:25900982   PMID:26186194   PMID:26638075  
PMID:28514442   PMID:28611215   PMID:29395067   PMID:29467281   PMID:29540532   PMID:29568061   PMID:31462741   PMID:31871319   PMID:32877691   PMID:33961781   PMID:34079125   PMID:34709266  
PMID:34709727   PMID:35140242   PMID:35384245   PMID:36484700   PMID:36976175  


Genomics

Comparative Map Data
TPGS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3819507,497 - 519,654 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl19507,497 - 519,654 (+)EnsemblGRCh38hg38GRCh38
GRCh3719507,497 - 519,654 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3619458,497 - 470,654 (+)NCBINCBI36Build 36hg18NCBI36
Celera19297,964 - 310,121 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef19277,653 - 289,928 (+)NCBIHuRef
CHM1_119507,000 - 518,651 (+)NCBICHM1_1
T2T-CHM13v2.019460,069 - 472,226 (+)NCBIT2T-CHM13v2.0
Tpgs1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391079,505,273 - 79,511,961 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1079,505,203 - 79,511,961 (+)EnsemblGRCm39 Ensembl
GRCm381079,669,439 - 79,676,127 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1079,669,369 - 79,676,127 (+)EnsemblGRCm38mm10GRCm38
MGSCv371079,132,155 - 79,138,871 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361079,072,539 - 79,079,066 (+)NCBIMGSCv36mm8
Celera1080,683,145 - 80,689,861 (+)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.72NCBI
Tpgs1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8710,680,461 - 10,686,383 (-)NCBIGRCr8
mRatBN7.2710,029,842 - 10,035,764 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl710,029,854 - 10,035,764 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx712,910,831 - 12,916,733 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0714,788,910 - 14,794,812 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0712,648,201 - 12,654,116 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0712,912,251 - 12,918,173 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl712,912,263 - 12,918,173 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0713,080,966 - 13,086,888 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4711,546,760 - 11,552,682 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera78,203,089 - 8,209,005 (-)NCBICelera
Cytogenetic Map7q11NCBI
Tpgs1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554957,181,907 - 7,189,726 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554957,181,907 - 7,189,726 (-)NCBIChiLan1.0ChiLan1.0
TPGS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2204,836,574 - 4,847,852 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1194,075,184 - 4,087,405 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v019614,279 - 625,715 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
TPGS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12057,971,465 - 57,977,525 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2057,971,704 - 57,977,486 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2057,774,240 - 57,780,320 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02058,715,047 - 58,721,138 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2058,712,782 - 58,721,073 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12057,768,615 - 57,774,692 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02058,248,466 - 58,254,560 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02058,451,731 - 58,457,810 (-)NCBIUU_Cfam_GSD_1.0
Tpgs1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118217,679,298 - 217,684,505 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936588150,486 - 156,519 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936588150,465 - 155,485 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TPGS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl277,776,277 - 77,783,416 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1277,776,269 - 77,783,434 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TPGS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.16236,753 - 248,531 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl6237,462 - 248,526 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660818,843,203 - 8,888,590 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tpgs1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248287,946,301 - 7,953,653 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248287,946,158 - 7,953,633 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TPGS1
39 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.3(chr19:259395-819679)x3 copy number gain See cases [RCV000051144] Chr19:259395..819679 [GRCh38]
Chr19:259395..819679 [GRCh37]
Chr19:210395..770679 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2555149)x3 copy number gain See cases [RCV000051044] Chr19:259395..2555149 [GRCh38]
Chr19:259395..2555147 [GRCh37]
Chr19:210395..2506147 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3(chr19:259395-1952650)x3 copy number gain See cases [RCV000052875] Chr19:259395..1952650 [GRCh38]
Chr19:259395..1952649 [GRCh37]
Chr19:210395..1903649 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 copy number gain See cases [RCV000052575] Chr19:233565..4699472 [GRCh38]
Chr19:233565..4699484 [GRCh37]
Chr19:184565..4650484 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:259195-1351363)x1 copy number loss See cases [RCV000053910] Chr19:259195..1351363 [GRCh38]
Chr19:259195..1351362 [GRCh37]
Chr19:210195..1302362 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:266117-1076399)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]|See cases [RCV000053911] Chr19:266117..1076399 [GRCh38]
Chr19:266117..1076398 [GRCh37]
Chr19:217117..1027398 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:421537-2897921)x3 copy number gain See cases [RCV000134894] Chr19:421537..2897921 [GRCh38]
Chr19:421537..2897919 [GRCh37]
Chr19:372537..2848919 [NCBI36]
Chr19:19p13.3
likely pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2068507)x3 copy number gain See cases [RCV000135433] Chr19:259395..2068507 [GRCh38]
Chr19:259395..2068506 [GRCh37]
Chr19:210395..2019506 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:275925-1892276)x3 copy number gain See cases [RCV000141358] Chr19:275925..1892276 [GRCh38]
Chr19:275925..1892275 [GRCh37]
Chr19:226925..1843275 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:260912-1163934)x3 copy number gain See cases [RCV000239425] Chr19:260912..1163934 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:277373-2555164)x3 copy number gain See cases [RCV000240507] Chr19:277373..2555164 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:467701-519619)x3 copy number gain See cases [RCV000449445] Chr19:467701..519619 [GRCh37]
Chr19:19p13.3
likely benign
GRCh37/hg19 19p13.3(chr19:474645-509267)x3 copy number gain See cases [RCV000447611] Chr19:474645..509267 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:474645-519619)x3 copy number gain See cases [RCV000448123] Chr19:474645..519619 [GRCh37]
Chr19:19p13.3
likely benign
GRCh37/hg19 19p13.3(chr19:474645-508220)x3 copy number gain See cases [RCV000448825] Chr19:474645..508220 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:260911-1965786)x3 copy number gain See cases [RCV000511452] Chr19:260911..1965786 [GRCh37]
Chr19:19p13.3
likely pathogenic
GRCh37/hg19 19p13.3(chr19:415092-715725)x3 copy number gain See cases [RCV000511102] Chr19:415092..715725 [GRCh37]
Chr19:19p13.3
likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_033513.3(TPGS1):c.667G>T (p.Asp223Tyr) single nucleotide variant not specified [RCV004331077] Chr19:519217 [GRCh38]
Chr19:519217 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_033513.3(TPGS1):c.417C>G (p.Asp139Glu) single nucleotide variant not specified [RCV004282203] Chr19:518967 [GRCh38]
Chr19:518967 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:266117-1094614)x3 copy number gain not provided [RCV000513059] Chr19:266117..1094614 [GRCh37]
Chr19:19p13.3
likely pathogenic
GRCh37/hg19 19p13.3(chr19:259395-3152419) copy number gain Global developmental delay [RCV000626520] Chr19:259395..3152419 [GRCh37]
Chr19:19p13.3
likely pathogenic
GRCh37/hg19 19p13.3(chr19:260911-3200875)x3 copy number gain not provided [RCV000684094] Chr19:260911..3200875 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:517284-541260)x1 copy number loss not provided [RCV000739930] Chr19:517284..541260 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:517336-525739)x1 copy number loss not provided [RCV000739931] Chr19:517336..525739 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:517336-540727)x1 copy number loss not provided [RCV000739932] Chr19:517336..540727 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:517392-529004)x1 copy number loss not provided [RCV000739933] Chr19:517392..529004 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:517392-540727)x1 copy number loss not provided [RCV000739934] Chr19:517392..540727 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:517392-541260)x1 copy number loss not provided [RCV000739935] Chr19:517392..541260 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3(chr19:423160-1429367)x3 copy number gain not provided [RCV000752449] Chr19:423160..1429367 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:454430-617466)x3 copy number gain not provided [RCV000752450] Chr19:454430..617466 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:460883-512568)x3 copy number gain not provided [RCV000752451] Chr19:460883..512568 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:473932-517284)x3 copy number gain not provided [RCV000752452] Chr19:473932..517284 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:474588-518841)x3 copy number gain not provided [RCV000752454] Chr19:474588..518841 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:474588-525739)x3 copy number gain not provided [RCV000752455] Chr19:474588..525739 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:474588-541685)x3 copy number gain not provided [RCV000752456] Chr19:474588..541685 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:478060-508626)x3 copy number gain not provided [RCV000752457] Chr19:478060..508626 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:483115-549496)x3 copy number gain not provided [RCV000752458] Chr19:483115..549496 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:495722-525739)x3 copy number gain not provided [RCV000752459] Chr19:495722..525739 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:496724-529004)x1 copy number loss not provided [RCV000752461] Chr19:496724..529004 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:499978-529004)x1 copy number loss not provided [RCV000752462] Chr19:499978..529004 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:509569-518897)x1 copy number loss not provided [RCV000752463] Chr19:509569..518897 [GRCh37]
Chr19:19p13.3
benign
NM_033513.3(TPGS1):c.786G>A (p.Gly262=) single nucleotide variant not provided [RCV000949031] Chr19:519336 [GRCh38]
Chr19:519336 [GRCh37]
Chr19:19p13.3
benign
NM_033513.3(TPGS1):c.791G>T (p.Arg264Leu) single nucleotide variant not provided [RCV000895749] Chr19:519341 [GRCh38]
Chr19:519341 [GRCh37]
Chr19:19p13.3
likely benign
GRCh37/hg19 19p13.3(chr19:260911-2256387)x3 copy number gain See cases [RCV002285065] Chr19:260911..2256387 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:260911-3501271)x3 copy number gain not provided [RCV001007025] Chr19:260911..3501271 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:352288-515126)x3 copy number gain not provided [RCV000849283] Chr19:352288..515126 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 copy number gain not provided [RCV000846988] Chr19:260911..4788357 [GRCh37]
Chr19:19p13.3
pathogenic
NM_033513.3(TPGS1):c.782G>C (p.Gly261Ala) single nucleotide variant not specified [RCV004282231] Chr19:519332 [GRCh38]
Chr19:519332 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_033513.3(TPGS1):c.135G>A (p.Thr45=) single nucleotide variant not provided [RCV000909350] Chr19:507641 [GRCh38]
Chr19:507641 [GRCh37]
Chr19:19p13.3
likely benign
NM_033513.3(TPGS1):c.774C>T (p.Arg258=) single nucleotide variant not provided [RCV000959511] Chr19:519324 [GRCh38]
Chr19:519324 [GRCh37]
Chr19:19p13.3
likely benign
NM_033513.3(TPGS1):c.432C>T (p.Ser144=) single nucleotide variant not provided [RCV000903811] Chr19:518982 [GRCh38]
Chr19:518982 [GRCh37]
Chr19:19p13.3
benign
NM_033513.3(TPGS1):c.39G>A (p.Pro13=) single nucleotide variant not provided [RCV000972936] Chr19:507545 [GRCh38]
Chr19:507545 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3 copy number gain See cases [RCV001007443] Chr19:260912..4384674 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:352288-633755)x3 copy number gain not provided [RCV001259375] Chr19:352288..633755 [GRCh37]
Chr19:19p13.3
likely benign
GRCh37/hg19 19p13.3(chr19:414714-713630)x3 copy number gain not provided [RCV001259376] Chr19:414714..713630 [GRCh37]
Chr19:19p13.3
likely benign
GRCh37/hg19 19p13.3(chr19:260911-1319319) copy number loss Peutz-Jeghers syndrome [RCV002280635] Chr19:260911..1319319 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:352289-548433)x1 copy number loss not provided [RCV001833039] Chr19:352289..548433 [GRCh37]
Chr19:19p13.3
likely benign
NM_033513.3(TPGS1):c.145C>T (p.Arg49Cys) single nucleotide variant not specified [RCV004323844] Chr19:507651 [GRCh38]
Chr19:507651 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:260912-508202)x1 copy number loss not provided [RCV002472713] Chr19:260912..508202 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:260912-538303)x3 copy number gain not provided [RCV002474861] Chr19:260912..538303 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_033513.3(TPGS1):c.7G>A (p.Ala3Thr) single nucleotide variant not specified [RCV004120264] Chr19:507513 [GRCh38]
Chr19:507513 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_033513.3(TPGS1):c.790C>G (p.Arg264Gly) single nucleotide variant not specified [RCV004210677] Chr19:519340 [GRCh38]
Chr19:519340 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_033513.3(TPGS1):c.514G>C (p.Asp172His) single nucleotide variant not specified [RCV004196160] Chr19:519064 [GRCh38]
Chr19:519064 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_033513.3(TPGS1):c.734C>G (p.Ser245Trp) single nucleotide variant not specified [RCV004206267] Chr19:519284 [GRCh38]
Chr19:519284 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_033513.3(TPGS1):c.694A>T (p.Ser232Cys) single nucleotide variant not specified [RCV004114644] Chr19:519244 [GRCh38]
Chr19:519244 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_033513.3(TPGS1):c.395G>C (p.Arg132Pro) single nucleotide variant not specified [RCV004200084] Chr19:518945 [GRCh38]
Chr19:518945 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_033513.3(TPGS1):c.548C>T (p.Ala183Val) single nucleotide variant not specified [RCV004172301] Chr19:519098 [GRCh38]
Chr19:519098 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_033513.3(TPGS1):c.350A>G (p.Asn117Ser) single nucleotide variant not specified [RCV004204547] Chr19:518900 [GRCh38]
Chr19:518900 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_033513.3(TPGS1):c.371A>G (p.Tyr124Cys) single nucleotide variant not specified [RCV004236176] Chr19:518921 [GRCh38]
Chr19:518921 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_033513.3(TPGS1):c.260C>T (p.Pro87Leu) single nucleotide variant not specified [RCV004137527] Chr19:507766 [GRCh38]
Chr19:507766 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_033513.3(TPGS1):c.364G>T (p.Val122Leu) single nucleotide variant not specified [RCV004165200] Chr19:518914 [GRCh38]
Chr19:518914 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_033513.3(TPGS1):c.105G>C (p.Glu35Asp) single nucleotide variant not specified [RCV004202352] Chr19:507611 [GRCh38]
Chr19:507611 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_033513.3(TPGS1):c.91G>A (p.Ala31Thr) single nucleotide variant not specified [RCV004190083] Chr19:507597 [GRCh38]
Chr19:507597 [GRCh37]
Chr19:19p13.3
likely benign
NM_033513.3(TPGS1):c.799G>A (p.Ala267Thr) single nucleotide variant not specified [RCV004173123] Chr19:519349 [GRCh38]
Chr19:519349 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_033513.3(TPGS1):c.769G>A (p.Asp257Asn) single nucleotide variant not specified [RCV004191101] Chr19:519319 [GRCh38]
Chr19:519319 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:260912-713630)x1 copy number loss not provided [RCV003483344] Chr19:260912..713630 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3 copy number gain not provided [RCV003485190] Chr19:260912..7246777 [GRCh37]
Chr19:19p13.3-13.2
pathogenic
GRCh37/hg19 19p13.3(chr19:260912-548433)x1 copy number loss not provided [RCV003483345] Chr19:260912..548433 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-1210337)x1 copy number loss not specified [RCV003986113] Chr19:260911..1210337 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:352288-1186507)x3 copy number gain not specified [RCV003986107] Chr19:352288..1186507 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:416230-548433)x1 copy number loss not specified [RCV003986125] Chr19:416230..548433 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_033513.3(TPGS1):c.119G>A (p.Arg40Gln) single nucleotide variant not specified [RCV004470871] Chr19:507625 [GRCh38]
Chr19:507625 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_033513.3(TPGS1):c.445C>A (p.Arg149Ser) single nucleotide variant not specified [RCV004470874] Chr19:518995 [GRCh38]
Chr19:518995 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_033513.3(TPGS1):c.199C>G (p.Leu67Val) single nucleotide variant not specified [RCV004470872] Chr19:507705 [GRCh38]
Chr19:507705 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_033513.3(TPGS1):c.667G>A (p.Asp223Asn) single nucleotide variant not specified [RCV004470876] Chr19:519217 [GRCh38]
Chr19:519217 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_033513.3(TPGS1):c.281A>G (p.Gln94Arg) single nucleotide variant not specified [RCV004470873] Chr19:507787 [GRCh38]
Chr19:507787 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_033513.3(TPGS1):c.644G>T (p.Arg215Leu) single nucleotide variant not specified [RCV004470875] Chr19:519194 [GRCh38]
Chr19:519194 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_033513.3(TPGS1):c.553A>G (p.Thr185Ala) single nucleotide variant not specified [RCV004677291] Chr19:519103 [GRCh38]
Chr19:519103 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_033513.3(TPGS1):c.44C>A (p.Ala15Asp) single nucleotide variant not specified [RCV004677292] Chr19:507550 [GRCh38]
Chr19:507550 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_033513.3(TPGS1):c.665T>C (p.Leu222Pro) single nucleotide variant not specified [RCV004677293] Chr19:519215 [GRCh38]
Chr19:519215 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:496500-590577)x3 copy number gain not provided [RCV003885485] Chr19:496500..590577 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_033513.3(TPGS1):c.343G>A (p.Ala115Thr) single nucleotide variant not specified [RCV004342308] Chr19:518893 [GRCh38]
Chr19:518893 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_033513.3(TPGS1):c.149C>T (p.Ala50Val) single nucleotide variant not specified [RCV004353229] Chr19:507655 [GRCh38]
Chr19:507655 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_033513.3(TPGS1):c.346T>A (p.Phe116Ile) single nucleotide variant not specified [RCV004340092] Chr19:518896 [GRCh38]
Chr19:518896 [GRCh37]
Chr19:19p13.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:732
Count of miRNA genes:513
Interacting mature miRNAs:572
Transcripts:ENST00000359315, ENST00000588278
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298499UAE1_HUrinary albumin excretion QTL 1 (human)2.730.0009Urinary albumin excretionurine albumin:creatinine ratio (ACR)19116075902Human
1643451SLIPL6_HSerum lipid level QTL 6 (human)2.190.0008Lipid level19116075902Human
1581534BP76_HBlood pressure QTL 76 (human)20.001Blood pressurepulse pressure19116075902Human
1581535BP65_HBlood pressure QTL 65 (human)3.10.001Blood pressurepulse pressure19116075902Human
597400172GWAS1496246_Hmean reticulocyte volume QTL GWAS1496246 (human)1e-11reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)19516730516731Human
2314591INSUL4_HInsulin level QTL 4 (human)3.80.000038Insulin levelfasting19116075902Human
597505489GWAS1601563_Hglycocholenate sulfate measurement QTL GWAS1601563 (human)1e-08glycocholenate sulfate measurement19513697513698Human
1298476BP3_HBlood pressure QTL 3 (human)2.4Blood pressuresystolic19116075902Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2350 6 624 1931 465 2269 7283 6450 53 3734 1 851 1744 1616 174 1

Sequence


Ensembl Acc Id: ENST00000359315   ⟹   ENSP00000352265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19507,497 - 519,654 (+)Ensembl
Ensembl Acc Id: ENST00000588278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19507,500 - 510,372 (+)Ensembl
RefSeq Acc Id: NM_033513   ⟹   NP_277048
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819507,497 - 519,654 (+)NCBI
GRCh3719507,497 - 519,654 (+)RGD
Build 3619458,497 - 470,654 (+)NCBI Archive
Celera19297,964 - 310,121 (-)RGD
HuRef19277,653 - 289,928 (+)RGD
CHM1_119507,000 - 518,651 (+)NCBI
T2T-CHM13v2.019460,069 - 472,226 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_277048 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH09520 (Get FASTA)   NCBI Sequence Viewer  
  BAC86469 (Get FASTA)   NCBI Sequence Viewer  
  EAW61192 (Get FASTA)   NCBI Sequence Viewer  
  EAW61193 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000352265
  ENSP00000352265.4
GenBank Protein Q6ZTW0 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_277048   ⟸   NM_033513
- UniProtKB: Q96GE2 (UniProtKB/Swiss-Prot),   Q6ZTW0 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000352265   ⟸   ENST00000359315

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6ZTW0-F1-model_v2 AlphaFold Q6ZTW0 1-290 view protein structure

Promoters
RGD ID:6795457
Promoter ID:HG_KWN:28316
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000388800,   NM_033513
Position:
Human AssemblyChrPosition (strand)Source
Build 3619457,751 - 458,742 (+)MPROMDB
RGD ID:7237691
Promoter ID:EPDNEW_H24591
Type:multiple initiation site
Name:TPGS1_1
Description:tubulin polyglutamylase complex subunit 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
GRCh3819507,497 - 507,557EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25058 AgrOrtholog
COSMIC TPGS1 COSMIC
Ensembl Genes ENSG00000141933 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000359315 ENTREZGENE
  ENST00000359315.6 UniProtKB/Swiss-Prot
Gene3D-CATH cAMP-dependent protein kinase regulatory subunit, dimerization-anchoring domain UniProtKB/Swiss-Prot
GTEx ENSG00000141933 GTEx
HGNC ID HGNC:25058 ENTREZGENE
Human Proteome Map TPGS1 Human Proteome Map
InterPro DD_TPGS1 UniProtKB/Swiss-Prot
  TPGS1 UniProtKB/Swiss-Prot
KEGG Report hsa:91978 UniProtKB/Swiss-Prot
NCBI Gene 91978 ENTREZGENE
OMIM 620709 OMIM
PANTHER PTHR31932 UniProtKB/Swiss-Prot
  TUBULIN POLYGLUTAMYLASE COMPLEX SUBUNIT 1 UniProtKB/Swiss-Prot
PharmGKB PA134901246 PharmGKB
Superfamily-SCOP Dimerization-anchoring domain of cAMP-dependent PK regulatory subunit UniProtKB/Swiss-Prot
UniProt Q6ZTW0 ENTREZGENE
  Q96GE2 ENTREZGENE
  TPGS1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q96GE2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-11-29 TPGS1  tubulin polyglutamylase complex subunit 1  C19orf20  chromosome 19 open reading frame 20  Symbol and/or name change 5135510 APPROVED