UniProtKB - Q9UHF7 (TRPS1_HUMAN)
Zinc finger transcription factor Trps1
TRPS1
Functioni
Transcriptional repressor. Binds specifically to GATA sequences and represses expression of GATA-regulated genes at selected sites and stages in vertebrate development. Regulates chondrocyte proliferation and differentiation. Executes multiple functions in proliferating chondrocytes, expanding the region of distal chondrocytes, activating proliferation in columnar cells and supporting the differentiation of columnar into hypertrophic chondrocytes.
2 PublicationsRegions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 222 – 247 | C2H2-type 1; atypicalPROSITE-ProRule annotationAdd BLAST | 26 | |
Zinc fingeri | 333 – 358 | C2H2-type 2; atypicalPROSITE-ProRule annotationAdd BLAST | 26 | |
Zinc fingeri | 614 – 637 | C2H2-type 3; atypicalPROSITE-ProRule annotationAdd BLAST | 24 | |
Zinc fingeri | 666 – 689 | C2H2-type 4PROSITE-ProRule annotationAdd BLAST | 24 | |
Zinc fingeri | 692 – 715 | C2H2-type 5PROSITE-ProRule annotationAdd BLAST | 24 | |
Zinc fingeri | 896 – 920 | GATA-typePROSITE-ProRule annotationAdd BLAST | 25 | |
Zinc fingeri | 1215 – 1237 | C2H2-type 6PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 1243 – 1267 | C2H2-type 7PROSITE-ProRule annotationAdd BLAST | 25 |
GO - Molecular functioni
- DNA-binding transcription factor activity Source: ProtInc
- DNA-binding transcription repressor activity, RNA polymerase II-specific Source: NTNU_SB
- protein domain specific binding Source: CAFA
- RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: NTNU_SB
- zinc ion binding Source: ProtInc
GO - Biological processi
- negative regulation of transcription by RNA polymerase II Source: UniProtKB
- regulation of chondrocyte differentiation Source: UniProtKB
- regulation of transcription by RNA polymerase II Source: GO_Central
- skeletal system development Source: UniProtKB
Keywordsi
Molecular function | DNA-binding, Repressor |
Biological process | Transcription, Transcription regulation |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q9UHF7 |
SignaLinki | Q9UHF7 |
SIGNORi | Q9UHF7 |
Names & Taxonomyi
Protein namesi | Recommended name: Zinc finger transcription factor Trps1Alternative name(s): Tricho-rhino-phalangeal syndrome type I protein Zinc finger protein GC79 |
Gene namesi | Name:TRPS1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:12340, TRPS1 |
MIMi | 604386, gene |
neXtProti | NX_Q9UHF7 |
VEuPathDBi | HostDB:ENSG00000104447 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- chromatin Source: BHF-UCL
- protein-containing complex Source: CAFA
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Tricho-rhino-phalangeal syndrome 1 (TRPS1)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_038198 | 952 | R → C in TRPS1; prevents the transport into the nucleus and thus reduces the nuclear TRPS1 concentration consistent with haploinsufficiency. 1 PublicationCorresponds to variant dbSNP:rs28939069Ensembl. | 1 | |
Natural variantiVAR_038199 | 952 | R → H in TRPS1; prevents the transport into the nucleus and thus reduces the nuclear TRPS1 concentration consistent with haploinsufficiency. 1 PublicationCorresponds to variant dbSNP:rs28939070Ensembl. | 1 |
Tricho-rhino-phalangeal syndrome 2 (TRPS2)
Tricho-rhino-phalangeal syndrome 3 (TRPS3)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_012807 | 894 | V → D in TRPS3; in heterozygous status has a milder effect causing TRPS1. 1 Publication | 1 | |
Natural variantiVAR_012808 | 901 | T → P in TRPS3; severe. 1 PublicationCorresponds to variant dbSNP:rs121908433Ensembl. | 1 | |
Natural variantiVAR_012809 | 908 | R → P in TRPS3; severe. 1 Publication | 1 | |
Natural variantiVAR_012810 | 908 | R → Q in TRPS3. 2 PublicationsCorresponds to variant dbSNP:rs121908435Ensembl. | 1 | |
Natural variantiVAR_012811 | 919 | A → T in TRPS3. 1 PublicationCorresponds to variant dbSNP:rs1057518972Ensembl. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 1192 | K → R: Very little change in sumoylation and 30% reduction in repression activity. Almost complete loss of sumoylation and 70% reduction in repression activity; when associated with R-1201. 1 Publication | 1 | |
Mutagenesisi | 1201 | K → R: Great loss of sumoylation and 30% reduction in repression activity. Almost complete loss of sumoylation and 70% reduction in repression activity; when associated with R-1192. 1 Publication | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 7227 |
GeneReviewsi | TRPS1 |
MalaCardsi | TRPS1 |
MIMi | 150230, phenotype 190350, phenotype 190351, phenotype |
OpenTargetsi | ENSG00000104447 |
Orphaneti | 77258, Trichorhinophalangeal syndrome type 1 and 3 502, Trichorhinophalangeal syndrome type 2 |
PharmGKBi | PA37013 |
Miscellaneous databases
Pharosi | Q9UHF7, Tbio |
Genetic variation databases
BioMutai | TRPS1 |
DMDMi | 20140909 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000083508 | 1 – 1281 | Zinc finger transcription factor Trps1Add BLAST | 1281 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Cross-linki | 29 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 76 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 90 | PhosphoserineCombined sources | 1 | |
Modified residuei | 127 | PhosphoserineCombined sources | 1 | |
Modified residuei | 178 | PhosphoserineCombined sources | 1 | |
Modified residuei | 216 | PhosphoserineBy similarity | 1 | |
Cross-linki | 263 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 418 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 457 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 474 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 488 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 645 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 737 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 751 | PhosphothreonineCombined sources | 1 | |
Cross-linki | 755 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 766 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources | ||
Cross-linki | 766 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources | ||
Cross-linki | 825 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 850 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 877 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 879 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 925 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 937 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 965 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 978 | PhosphoserineCombined sources | 1 | |
Cross-linki | 1003 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 1012 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 1030 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 1040 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 1041 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1066 | PhosphoserineCombined sources | 1 | |
Cross-linki | 1070 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 1085 | PhosphoserineCombined sources | 1 | |
Cross-linki | 1192 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO); alternate1 Publication | ||
Cross-linki | 1192 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources | ||
Cross-linki | 1201 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO); alternate | ||
Cross-linki | 1201 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources | ||
Cross-linki | 1201 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources |
Post-translational modificationi
Keywords - PTMi
Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q9UHF7 |
jPOSTi | Q9UHF7 |
MassIVEi | Q9UHF7 |
MaxQBi | Q9UHF7 |
PaxDbi | Q9UHF7 |
PeptideAtlasi | Q9UHF7 |
PRIDEi | Q9UHF7 |
ProteomicsDBi | 84344 [Q9UHF7-1] 84345 [Q9UHF7-2] 84346 [Q9UHF7-3] |
PTM databases
iPTMneti | Q9UHF7 |
PhosphoSitePlusi | Q9UHF7 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000104447, Expressed in thoracic mammary gland and 238 other tissues |
ExpressionAtlasi | Q9UHF7, baseline and differential |
Genevisiblei | Q9UHF7, HS |
Organism-specific databases
HPAi | ENSG00000104447, Tissue enhanced (brain, breast) |
Interactioni
Subunit structurei
Interacts with RNF4; regulates TRPS1 repressor activity.
Interacts specifically with the activator form of GLI3 (GLI3A) but not with the repressor form (GLI3R).
2 PublicationsBinary interactionsi
Q9UHF7
With | #Exp. | IntAct |
---|---|---|
RNF4 [P78317] | 2 | EBI-2556151,EBI-2340927 |
ORF [Q9Q2G4] from Human immunodeficiency virus 1. | 3 | EBI-2556151,EBI-6248094 |
GO - Molecular functioni
- protein domain specific binding Source: CAFA
Protein-protein interaction databases
BioGRIDi | 113078, 66 interactors |
ELMi | Q9UHF7 |
IntActi | Q9UHF7, 31 interactors |
MINTi | Q9UHF7 |
STRINGi | 9606.ENSP00000379065 |
Miscellaneous databases
RNActi | Q9UHF7, protein |
Structurei
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 198 | DisorderedSequence analysisAdd BLAST | 198 | |
Regioni | 365 – 394 | DisorderedSequence analysisAdd BLAST | 30 | |
Regioni | 483 – 512 | DisorderedSequence analysisAdd BLAST | 30 | |
Regioni | 635 – 819 | Mediates interaction with GLI31 PublicationAdd BLAST | 185 | |
Regioni | 856 – 887 | DisorderedSequence analysisAdd BLAST | 32 | |
Regioni | 961 – 1000 | DisorderedSequence analysisAdd BLAST | 40 | |
Regioni | 985 – 1184 | Mediates interaction with RNF4By similarityAdd BLAST | 200 | |
Regioni | 1039 – 1080 | DisorderedSequence analysisAdd BLAST | 42 | |
Regioni | 1163 – 1281 | Transcriptional repressor domainBy similarityAdd BLAST | 119 | |
Regioni | 1168 – 1196 | DisorderedSequence analysisAdd BLAST | 29 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 31 – 49 | Polar residuesSequence analysisAdd BLAST | 19 | |
Compositional biasi | 50 – 70 | Basic and acidic residuesSequence analysisAdd BLAST | 21 | |
Compositional biasi | 160 – 195 | Polar residuesSequence analysisAdd BLAST | 36 | |
Compositional biasi | 371 – 394 | Polar residuesSequence analysisAdd BLAST | 24 | |
Compositional biasi | 492 – 512 | Basic and acidic residuesSequence analysisAdd BLAST | 21 | |
Compositional biasi | 961 – 977 | Polar residuesSequence analysisAdd BLAST | 17 | |
Compositional biasi | 978 – 993 | Basic and acidic residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 1039 – 1061 | Polar residuesSequence analysisAdd BLAST | 23 |
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 222 – 247 | C2H2-type 1; atypicalPROSITE-ProRule annotationAdd BLAST | 26 | |
Zinc fingeri | 333 – 358 | C2H2-type 2; atypicalPROSITE-ProRule annotationAdd BLAST | 26 | |
Zinc fingeri | 614 – 637 | C2H2-type 3; atypicalPROSITE-ProRule annotationAdd BLAST | 24 | |
Zinc fingeri | 666 – 689 | C2H2-type 4PROSITE-ProRule annotationAdd BLAST | 24 | |
Zinc fingeri | 692 – 715 | C2H2-type 5PROSITE-ProRule annotationAdd BLAST | 24 | |
Zinc fingeri | 896 – 920 | GATA-typePROSITE-ProRule annotationAdd BLAST | 25 | |
Zinc fingeri | 1215 – 1237 | C2H2-type 6PROSITE-ProRule annotationAdd BLAST | 23 | |
Zinc fingeri | 1243 – 1267 | C2H2-type 7PROSITE-ProRule annotationAdd BLAST | 25 |
Keywords - Domaini
Repeat, Zinc-fingerPhylogenomic databases
eggNOGi | KOG1601, Eukaryota |
GeneTreei | ENSGT00940000157893 |
InParanoidi | Q9UHF7 |
OMAi | SCHTLIN |
OrthoDBi | 120630at2759 |
PhylomeDBi | Q9UHF7 |
TreeFami | TF350812 |
Family and domain databases
CDDi | cd00202, ZnF_GATA, 1 hit |
Gene3Di | 3.30.50.10, 1 hit |
InterProi | View protein in InterPro IPR028440, TRPS1 IPR036236, Znf_C2H2_sf IPR013087, Znf_C2H2_type IPR000679, Znf_GATA IPR013088, Znf_NHR/GATA |
PANTHERi | PTHR47034, PTHR47034, 1 hit |
Pfami | View protein in Pfam PF00320, GATA, 1 hit |
PRINTSi | PR00619, GATAZNFINGER |
SMARTi | View protein in SMART SM00355, ZnF_C2H2, 9 hits SM00401, ZnF_GATA, 1 hit |
SUPFAMi | SSF57667, SSF57667, 1 hit |
PROSITEi | View protein in PROSITE PS00344, GATA_ZN_FINGER_1, 1 hit PS50114, GATA_ZN_FINGER_2, 1 hit PS00028, ZINC_FINGER_C2H2_1, 2 hits PS50157, ZINC_FINGER_C2H2_2, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MVRKKNPPLR NVASEGEGQI LEPIGTESKV SGKNKEFSAD QMSENTDQSD
60 70 80 90 100
AAELNHKEEH SLHVQDPSSS SKKDLKSAVL SEKAGFNYES PSKGGNFPSF
110 120 130 140 150
PHDEVTDRNM LAFSSPAAGG VCEPLKSPQR AEADDPQDMA CTPSGDSLET
160 170 180 190 200
KEDQKMSPKA TEETGQAQSG QANCQGLSPV SVASKNPQVP SDGGVRLNKS
210 220 230 240 250
KTDLLVNDNP DPAPLSPELQ DFKCNICGYG YYGNDPTDLI KHFRKYHLGL
260 270 280 290 300
HNRTRQDAEL DSKILALHNM VQFSHSKDFQ KVNRSVFSGV LQDINSSRPV
310 320 330 340 350
LLNGTYDVQV TSGGTFIGIG RKTPDCQGNT KYFRCKFCNF TYMGNSSTEL
360 370 380 390 400
EQHFLQTHPN KIKASLPSSE VAKPSEKNSN KSIPALQSSD SGDLGKWQDK
410 420 430 440 450
ITVKAGDDTP VGYSVPIKPL DSSRQNGTEA TSYYWCKFCS FSCESSSSLK
460 470 480 490 500
LLEHYGKQHG AVQSGGLNPE LNDKLSRGSV INQNDLAKSS EGETMTKTDK
510 520 530 540 550
SSSGAKKKDF SSKGAEDNMV TSYNCQFCDF RYSKSHGPDV IVVGPLLRHY
560 570 580 590 600
QQLHNIHKCT IKHCPFCPRG LCSPEKHLGE ITYPFACRKS NCSHCALLLL
610 620 630 640 650
HLSPGAAGSS RVKHQCHQCS FTTPDVDVLL FHYESVHESQ ASDVKQEANH
660 670 680 690 700
LQGSDGQQSV KESKEHSCTK CDFITQVEEE ISRHYRRAHS CYKCRQCSFT
710 720 730 740 750
AADTQSLLEH FNTVHCQEQD ITTANGEEDG HAISTIKEEP KIDFRVYNLL
760 770 780 790 800
TPDSKMGEPV SESVVKREKL EEKDGLKEKV WTESSSDDLR NVTWRGADIL
810 820 830 840 850
RGSPSYTQAS LGLLTPVSGT QEQTKTLRDS PNVEAAHLAR PIYGLAVETK
860 870 880 890 900
GFLQGAPAGG EKSGALPQQY PASGENKSKD ESQSLLRRRR GSGVFCANCL
910 920 930 940 950
TTKTSLWRKN ANGGYVCNAC GLYQKLHSTP RPLNIIKQNN GEQIIRRRTR
960 970 980 990 1000
KRLNPEALQA EQLNKQQRGS NEEQVNGSPL ERRSEDHLTE SHQREIPLPS
1010 1020 1030 1040 1050
LSKYEAQGSL TKSHSAQQPV LVSQTLDIHK RMQPLHIQIK SPQESTGDPG
1060 1070 1080 1090 1100
NSSSVSEGKG SSERGSPIEK YMRPAKHPNY SPPGSPIEKY QYPLFGLPFV
1110 1120 1130 1140 1150
HNDFQSEADW LRFWSKYKLS VPGNPHYLSH VPGLPNPCQN YVPYPTFNLP
1160 1170 1180 1190 1200
PHFSAVGSDN DIPLDLAIKH SRPGPTANGA SKEKTKAPPN VKNEGPLNVV
1210 1220 1230 1240 1250
KTEKVDRSTQ DELSTKCVHC GIVFLDEVMY ALHMSCHGDS GPFQCSICQH
1260 1270 1280
LCTDKYDFTT HIQRGLHRNN AQVEKNGKPK E
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE5RFF3 | E5RFF3_HUMAN | Zinc finger transcription factor Tr... | TRPS1 | 1,035 | Annotation score: | ||
H0YAV4 | H0YAV4_HUMAN | Zinc finger transcription factor Tr... | TRPS1 | 271 | Annotation score: | ||
H0YC29 | H0YC29_HUMAN | Zinc finger transcription factor Tr... | TRPS1 | 691 | Annotation score: | ||
C9J6L7 | C9J6L7_HUMAN | Zinc finger transcription factor Tr... | TRPS1 | 61 | Annotation score: | ||
E5RJ97 | E5RJ97_HUMAN | Zinc finger transcription factor Tr... | TRPS1 | 902 | Annotation score: | ||
F8W8T0 | F8W8T0_HUMAN | Zinc finger transcription factor Tr... | TRPS1 | 117 | Annotation score: | ||
E7EVN4 | E7EVN4_HUMAN | Zinc finger transcription factor Tr... | TRPS1 | 108 | Annotation score: | ||
A0A1D5RMP4 | A0A1D5RMP4_HUMAN | Zinc finger transcription factor Tr... | TRPS1 | 9 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 115 | S → F in AAF23614 (PubMed:10615131).Curated | 1 | |
Sequence conflicti | 582 | T → A in BAG64957 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_038197 | 654 | S → L. Corresponds to variant dbSNP:rs7002384Ensembl. | 1 | |
Natural variantiVAR_012807 | 894 | V → D in TRPS3; in heterozygous status has a milder effect causing TRPS1. 1 Publication | 1 | |
Natural variantiVAR_012808 | 901 | T → P in TRPS3; severe. 1 PublicationCorresponds to variant dbSNP:rs121908433Ensembl. | 1 | |
Natural variantiVAR_012809 | 908 | R → P in TRPS3; severe. 1 Publication | 1 | |
Natural variantiVAR_012810 | 908 | R → Q in TRPS3. 2 PublicationsCorresponds to variant dbSNP:rs121908435Ensembl. | 1 | |
Natural variantiVAR_012811 | 919 | A → T in TRPS3. 1 PublicationCorresponds to variant dbSNP:rs1057518972Ensembl. | 1 | |
Natural variantiVAR_038198 | 952 | R → C in TRPS1; prevents the transport into the nucleus and thus reduces the nuclear TRPS1 concentration consistent with haploinsufficiency. 1 PublicationCorresponds to variant dbSNP:rs28939069Ensembl. | 1 | |
Natural variantiVAR_038199 | 952 | R → H in TRPS1; prevents the transport into the nucleus and thus reduces the nuclear TRPS1 concentration consistent with haploinsufficiency. 1 PublicationCorresponds to variant dbSNP:rs28939070Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_037549 | 1 | M → MPYEVNAGYDFTNM in isoform 2. 1 Publication | 1 | |
Alternative sequenceiVSP_037550 | 1 | M → MQSNM in isoform 3. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF183810 mRNA Translation: AAF23614.1 AF264784 mRNA Translation: AAG21134.1 AK000948 mRNA Translation: BAA91441.1 Frameshift. AK304046 mRNA Translation: BAG64957.1 AF178030 Genomic DNA No translation available. BC125020 mRNA Translation: AAI25021.1 Sequence problems. |
CCDSi | CCDS6318.2 [Q9UHF7-2] CCDS64957.1 [Q9UHF7-3] CCDS83316.1 [Q9UHF7-1] |
RefSeqi | NP_001269831.1, NM_001282902.2 [Q9UHF7-3] NP_001269832.1, NM_001282903.2 NP_001317528.1, NM_001330599.1 [Q9UHF7-1] NP_054831.2, NM_014112.4 [Q9UHF7-2] XP_006716688.1, XM_006716625.1 XP_011515566.1, XM_011517264.1 XP_011515568.1, XM_011517266.2 XP_011515570.1, XM_011517268.1 |
Genome annotation databases
Ensembli | ENST00000220888; ENSP00000220888; ENSG00000104447 ENST00000395715; ENSP00000379065; ENSG00000104447 [Q9UHF7-2] ENST00000520276; ENSP00000428680; ENSG00000104447 [Q9UHF7-3] ENST00000640765; ENSP00000492037; ENSG00000104447 |
GeneIDi | 7227 |
KEGGi | hsa:7227 |
MANE-Selecti | ENST00000395715.8; ENSP00000379065.3; NM_014112.5; NP_054831.2 [Q9UHF7-2] |
UCSCi | uc003yny.5, human [Q9UHF7-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF183810 mRNA Translation: AAF23614.1 AF264784 mRNA Translation: AAG21134.1 AK000948 mRNA Translation: BAA91441.1 Frameshift. AK304046 mRNA Translation: BAG64957.1 AF178030 Genomic DNA No translation available. BC125020 mRNA Translation: AAI25021.1 Sequence problems. |
CCDSi | CCDS6318.2 [Q9UHF7-2] CCDS64957.1 [Q9UHF7-3] CCDS83316.1 [Q9UHF7-1] |
RefSeqi | NP_001269831.1, NM_001282902.2 [Q9UHF7-3] NP_001269832.1, NM_001282903.2 NP_001317528.1, NM_001330599.1 [Q9UHF7-1] NP_054831.2, NM_014112.4 [Q9UHF7-2] XP_006716688.1, XM_006716625.1 XP_011515566.1, XM_011517264.1 XP_011515568.1, XM_011517266.2 XP_011515570.1, XM_011517268.1 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 113078, 66 interactors |
ELMi | Q9UHF7 |
IntActi | Q9UHF7, 31 interactors |
MINTi | Q9UHF7 |
STRINGi | 9606.ENSP00000379065 |
PTM databases
iPTMneti | Q9UHF7 |
PhosphoSitePlusi | Q9UHF7 |
Genetic variation databases
BioMutai | TRPS1 |
DMDMi | 20140909 |
Proteomic databases
EPDi | Q9UHF7 |
jPOSTi | Q9UHF7 |
MassIVEi | Q9UHF7 |
MaxQBi | Q9UHF7 |
PaxDbi | Q9UHF7 |
PeptideAtlasi | Q9UHF7 |
PRIDEi | Q9UHF7 |
ProteomicsDBi | 84344 [Q9UHF7-1] 84345 [Q9UHF7-2] 84346 [Q9UHF7-3] |
Protocols and materials databases
Antibodypediai | 42950, 131 antibodies from 26 providers |
DNASUi | 7227 |
Genome annotation databases
Ensembli | ENST00000220888; ENSP00000220888; ENSG00000104447 ENST00000395715; ENSP00000379065; ENSG00000104447 [Q9UHF7-2] ENST00000520276; ENSP00000428680; ENSG00000104447 [Q9UHF7-3] ENST00000640765; ENSP00000492037; ENSG00000104447 |
GeneIDi | 7227 |
KEGGi | hsa:7227 |
MANE-Selecti | ENST00000395715.8; ENSP00000379065.3; NM_014112.5; NP_054831.2 [Q9UHF7-2] |
UCSCi | uc003yny.5, human [Q9UHF7-1] |
Organism-specific databases
CTDi | 7227 |
DisGeNETi | 7227 |
GeneCardsi | TRPS1 |
GeneReviewsi | TRPS1 |
HGNCi | HGNC:12340, TRPS1 |
HPAi | ENSG00000104447, Tissue enhanced (brain, breast) |
MalaCardsi | TRPS1 |
MIMi | 150230, phenotype 190350, phenotype 190351, phenotype 604386, gene |
neXtProti | NX_Q9UHF7 |
OpenTargetsi | ENSG00000104447 |
Orphaneti | 77258, Trichorhinophalangeal syndrome type 1 and 3 502, Trichorhinophalangeal syndrome type 2 |
PharmGKBi | PA37013 |
VEuPathDBi | HostDB:ENSG00000104447 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1601, Eukaryota |
GeneTreei | ENSGT00940000157893 |
InParanoidi | Q9UHF7 |
OMAi | SCHTLIN |
OrthoDBi | 120630at2759 |
PhylomeDBi | Q9UHF7 |
TreeFami | TF350812 |
Enzyme and pathway databases
PathwayCommonsi | Q9UHF7 |
SignaLinki | Q9UHF7 |
SIGNORi | Q9UHF7 |
Miscellaneous databases
BioGRID-ORCSi | 7227, 26 hits in 1069 CRISPR screens |
ChiTaRSi | TRPS1, human |
GeneWikii | Tricho-rhino-phalangeal_syndrome_Type_1 |
GenomeRNAii | 7227 |
Pharosi | Q9UHF7, Tbio |
PROi | PR:Q9UHF7 |
RNActi | Q9UHF7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000104447, Expressed in thoracic mammary gland and 238 other tissues |
ExpressionAtlasi | Q9UHF7, baseline and differential |
Genevisiblei | Q9UHF7, HS |
Family and domain databases
CDDi | cd00202, ZnF_GATA, 1 hit |
Gene3Di | 3.30.50.10, 1 hit |
InterProi | View protein in InterPro IPR028440, TRPS1 IPR036236, Znf_C2H2_sf IPR013087, Znf_C2H2_type IPR000679, Znf_GATA IPR013088, Znf_NHR/GATA |
PANTHERi | PTHR47034, PTHR47034, 1 hit |
Pfami | View protein in Pfam PF00320, GATA, 1 hit |
PRINTSi | PR00619, GATAZNFINGER |
SMARTi | View protein in SMART SM00355, ZnF_C2H2, 9 hits SM00401, ZnF_GATA, 1 hit |
SUPFAMi | SSF57667, SSF57667, 1 hit |
PROSITEi | View protein in PROSITE PS00344, GATA_ZN_FINGER_1, 1 hit PS50114, GATA_ZN_FINGER_2, 1 hit PS00028, ZINC_FINGER_C2H2_1, 2 hits PS50157, ZINC_FINGER_C2H2_2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | TRPS1_HUMAN | |
Accessioni | Q9UHF7Primary (citable) accession number: Q9UHF7 Secondary accession number(s): B4E1Z5 Q9UHH6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 27, 2002 |
Last sequence update: | March 27, 2002 | |
Last modified: | February 23, 2022 | |
This is version 189 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot