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Protein

Zinc finger transcription factor Trps1

Gene

TRPS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri222 – 247C2H2-type 1; atypicalPROSITE-ProRule annotationAdd BLAST26
Zinc fingeri333 – 358C2H2-type 2; atypicalPROSITE-ProRule annotationAdd BLAST26
Zinc fingeri614 – 637C2H2-type 3; atypicalPROSITE-ProRule annotationAdd BLAST24
Zinc fingeri666 – 689C2H2-type 4PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri692 – 715C2H2-type 5PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri896 – 920GATA-typePROSITE-ProRule annotationAdd BLAST25
Zinc fingeri1215 – 1237C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1243 – 1267C2H2-type 7PROSITE-ProRule annotationAdd BLAST25

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000104447-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger transcription factor Trps1
Alternative name(s):
Tricho-rhino-phalangeal syndrome type I protein
Zinc finger protein GC79
Gene namesi
Name:TRPS1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:12340. TRPS1.

Subcellular locationi

GO - Cellular componenti

  • nuclear chromatin Source: BHF-UCL
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
  • transcription factor complex Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Tricho-rhino-phalangeal syndrome 1 (TRPS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal dominant disorder characterized by craniofacial and skeletal abnormalities. It is allelic with tricho-rhino-phalangeal type 3. Typical features include sparse scalp hair, a bulbous tip of the nose, protruding ears, a long flat philtrum and a thin upper vermilion border. Skeletal defects include cone-shaped epiphyses at the phalanges, hip malformations and short stature.
See also OMIM:190350
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_012807894V → D in TRPS3; in heterozygous status has a milder effect causing TRPS1. 1 Publication1
Natural variantiVAR_038198952R → C in TRPS1; prevents the transport into the nucleus and thus reduces the nuclear TRPS1 concentration consistent with haploinsufficiency. 1 PublicationCorresponds to variant rs28939069dbSNPEnsembl.1
Natural variantiVAR_038199952R → H in TRPS1; prevents the transport into the nucleus and thus reduces the nuclear TRPS1 concentration consistent with haploinsufficiency. 1 PublicationCorresponds to variant rs28939070dbSNPEnsembl.1
Tricho-rhino-phalangeal syndrome 2 (TRPS2)
The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration resulting in the loss of functional copies of TRPS1 and EXT1 has been found in TRPS2 patients.
Disease descriptionA syndrome that combines the clinical features of tricho-rhino-phalangeal syndrome type 1 and multiple exostoses type 1. Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and mental retardation.
See also OMIM:150230
Tricho-rhino-phalangeal syndrome 3 (TRPS3)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal dominant disorder characterized by craniofacial and skeletal abnormalities. It is allelic with tricho-rhino-phalangeal type 1. In TRPS3 a more severe brachydactyly and growth retardation are observed.
See also OMIM:190351
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_012807894V → D in TRPS3; in heterozygous status has a milder effect causing TRPS1. 1 Publication1
Natural variantiVAR_012808901T → P in TRPS3; severe. 1 PublicationCorresponds to variant rs121908433dbSNPEnsembl.1
Natural variantiVAR_012809908R → P in TRPS3; severe. 1 Publication1
Natural variantiVAR_012810908R → Q in TRPS3. 2 PublicationsCorresponds to variant rs121908435dbSNPEnsembl.1
Natural variantiVAR_012811919A → T in TRPS3. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi1192K → 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 Publication1
Mutagenesisi1201K → 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 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi7227.
MalaCardsiTRPS1.
MIMi150230. phenotype.
190350. phenotype.
190351. phenotype.
OpenTargetsiENSG00000104447.
Orphaneti502. Langer-Giedion syndrome.
77258. Trichorhinophalangeal syndrome type 1 and 3.
PharmGKBiPA37013.

Polymorphism and mutation databases

DMDMi20140909.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000835081 – 1281Zinc finger transcription factor Trps1Add BLAST1281

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei90PhosphoserineCombined sources1
Modified residuei127PhosphoserineCombined sources1
Modified residuei178PhosphoserineCombined sources1
Modified residuei216PhosphoserineBy similarity1
Modified residuei751PhosphothreonineCombined sources1
Cross-linki766Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)Combined sources
Cross-linki766Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki850Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei978PhosphoserineCombined sources1
Cross-linki1003Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1041PhosphoserineCombined sources1
Modified residuei1066PhosphoserineCombined sources1
Modified residuei1085PhosphoserineCombined sources1
Cross-linki1192Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication
Cross-linki1201Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO); alternate
Cross-linki1201Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki1201Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources

Post-translational modificationi

Sumoylated. Sumoylation in the repressor domain inhibits the transcription repression activity. Sumoylation on Lys-1201 is the major site. Appears to be sumoylated on multiple sites.1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9UHF7.
PaxDbiQ9UHF7.
PeptideAtlasiQ9UHF7.
PRIDEiQ9UHF7.

PTM databases

iPTMnetiQ9UHF7.
PhosphoSitePlusiQ9UHF7.

Expressioni

Tissue specificityi

Ubiquitously expressed in the adult. Found in fetal brain, lung, kidney, liver, spleen and thymus. More highly expressed in androgen-dependent than in androgen-independent prostate cancer cells.

Gene expression databases

BgeeiENSG00000104447.
CleanExiHS_TRPS1.
ExpressionAtlasiQ9UHF7. baseline and differential.
GenevisibleiQ9UHF7. HS.

Organism-specific databases

HPAiHPA059359.
HPA060380.

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 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ORFQ9Q2G43EBI-2556151,EBI-6248094From a different organism.
RNF4P783172EBI-2556151,EBI-2340927

GO - Molecular functioni

Protein-protein interaction databases

BioGridi113078. 28 interactors.
IntActiQ9UHF7. 21 interactors.
MINTiMINT-271027.
STRINGi9606.ENSP00000379065.

Structurei

3D structure databases

ProteinModelPortaliQ9UHF7.
SMRiQ9UHF7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni635 – 819Mediates interaction with GLI31 PublicationAdd BLAST185
Regioni985 – 1184Mediates interaction with RNF4By similarityAdd BLAST200
Regioni1163 – 1281Transcriptional repressor domainBy similarityAdd BLAST119

Sequence similaritiesi

Contains 7 C2H2-type zinc fingers.PROSITE-ProRule annotation
Contains 1 GATA-type zinc finger.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri222 – 247C2H2-type 1; atypicalPROSITE-ProRule annotationAdd BLAST26
Zinc fingeri333 – 358C2H2-type 2; atypicalPROSITE-ProRule annotationAdd BLAST26
Zinc fingeri614 – 637C2H2-type 3; atypicalPROSITE-ProRule annotationAdd BLAST24
Zinc fingeri666 – 689C2H2-type 4PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri692 – 715C2H2-type 5PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri896 – 920GATA-typePROSITE-ProRule annotationAdd BLAST25
Zinc fingeri1215 – 1237C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1243 – 1267C2H2-type 7PROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1601. Eukaryota.
COG5641. LUCA.
GeneTreeiENSGT00760000119221.
HOGENOMiHOG000146438.
HOVERGENiHBG067120.
InParanoidiQ9UHF7.
OMAiENKEHSC.
OrthoDBiEOG091G00VI.
PhylomeDBiQ9UHF7.
TreeFamiTF350812.

Family and domain databases

Gene3Di3.30.50.10. 1 hit.
InterProiIPR028440. TRPS1/Elt-7.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR000679. Znf_GATA.
IPR013088. Znf_NHR/GATA.
[Graphical view]
PANTHERiPTHR10071:SF176. PTHR10071:SF176. 2 hits.
PfamiPF00320. GATA. 1 hit.
[Graphical view]
PRINTSiPR00619. GATAZNFINGER.
SMARTiSM00355. ZnF_C2H2. 9 hits.
SM00401. ZnF_GATA. 1 hit.
[Graphical view]
PROSITEiPS00344. 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.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UHF7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:1,281
Mass (Da):141,521
Last modified:March 27, 2002 - v2
Checksum:i2157B04F5BEB71CC
GO
Isoform 2 (identifier: Q9UHF7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MPYEVNAGYDFTNM

Show »
Length:1,294
Mass (Da):143,023
Checksum:i0801087C5B0E5196
GO
Isoform 3 (identifier: Q9UHF7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MQSNM

Show »
Length:1,285
Mass (Da):141,981
Checksum:iACA951C56206BA8F
GO

Sequence cautioni

The sequence AAI25021 differs from that shown. Reason: Erroneous termination at position 854. Translated as Gln.Curated
The sequence BAA91441 differs from that shown. Reason: Frameshift at position 1276.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti115S → F in AAF23614 (PubMed:10615131).Curated1
Sequence conflicti582T → A in BAG64957 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038197654S → L.Corresponds to variant rs7002384dbSNPEnsembl.1
Natural variantiVAR_012807894V → D in TRPS3; in heterozygous status has a milder effect causing TRPS1. 1 Publication1
Natural variantiVAR_012808901T → P in TRPS3; severe. 1 PublicationCorresponds to variant rs121908433dbSNPEnsembl.1
Natural variantiVAR_012809908R → P in TRPS3; severe. 1 Publication1
Natural variantiVAR_012810908R → Q in TRPS3. 2 PublicationsCorresponds to variant rs121908435dbSNPEnsembl.1
Natural variantiVAR_012811919A → T in TRPS3. 1 Publication1
Natural variantiVAR_038198952R → C in TRPS1; prevents the transport into the nucleus and thus reduces the nuclear TRPS1 concentration consistent with haploinsufficiency. 1 PublicationCorresponds to variant rs28939069dbSNPEnsembl.1
Natural variantiVAR_038199952R → H in TRPS1; prevents the transport into the nucleus and thus reduces the nuclear TRPS1 concentration consistent with haploinsufficiency. 1 PublicationCorresponds to variant rs28939070dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0375491M → MPYEVNAGYDFTNM in isoform 2. 1 Publication1
Alternative sequenceiVSP_0375501M → MQSNM in isoform 3. 1 Publication1

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.
CCDSiCCDS6318.2. [Q9UHF7-2]
CCDS64957.1. [Q9UHF7-3]
CCDS83316.1. [Q9UHF7-1]
RefSeqiNP_001269831.1. NM_001282902.2. [Q9UHF7-3]
NP_001269832.1. NM_001282903.2.
NP_001317528.1. NM_001330599.1.
NP_054831.2. NM_014112.4. [Q9UHF7-2]
XP_006716688.1. XM_006716625.1. [Q9UHF7-2]
XP_011515566.1. XM_011517264.1. [Q9UHF7-2]
XP_011515568.1. XM_011517266.2. [Q9UHF7-2]
XP_011515570.1. XM_011517268.1. [Q9UHF7-1]
UniGeneiHs.657018.

Genome annotation databases

EnsembliENST00000220888; ENSP00000220888; ENSG00000104447. [Q9UHF7-1]
ENST00000395715; ENSP00000379065; ENSG00000104447. [Q9UHF7-2]
ENST00000520276; ENSP00000428680; ENSG00000104447. [Q9UHF7-3]
GeneIDi7227.
KEGGihsa:7227.
UCSCiuc003yny.5. human. [Q9UHF7-1]

Keywords - Coding sequence diversityi

Alternative splicing

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.
CCDSiCCDS6318.2. [Q9UHF7-2]
CCDS64957.1. [Q9UHF7-3]
CCDS83316.1. [Q9UHF7-1]
RefSeqiNP_001269831.1. NM_001282902.2. [Q9UHF7-3]
NP_001269832.1. NM_001282903.2.
NP_001317528.1. NM_001330599.1.
NP_054831.2. NM_014112.4. [Q9UHF7-2]
XP_006716688.1. XM_006716625.1. [Q9UHF7-2]
XP_011515566.1. XM_011517264.1. [Q9UHF7-2]
XP_011515568.1. XM_011517266.2. [Q9UHF7-2]
XP_011515570.1. XM_011517268.1. [Q9UHF7-1]
UniGeneiHs.657018.

3D structure databases

ProteinModelPortaliQ9UHF7.
SMRiQ9UHF7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113078. 28 interactors.
IntActiQ9UHF7. 21 interactors.
MINTiMINT-271027.
STRINGi9606.ENSP00000379065.

PTM databases

iPTMnetiQ9UHF7.
PhosphoSitePlusiQ9UHF7.

Polymorphism and mutation databases

DMDMi20140909.

Proteomic databases

EPDiQ9UHF7.
PaxDbiQ9UHF7.
PeptideAtlasiQ9UHF7.
PRIDEiQ9UHF7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000220888; ENSP00000220888; ENSG00000104447. [Q9UHF7-1]
ENST00000395715; ENSP00000379065; ENSG00000104447. [Q9UHF7-2]
ENST00000520276; ENSP00000428680; ENSG00000104447. [Q9UHF7-3]
GeneIDi7227.
KEGGihsa:7227.
UCSCiuc003yny.5. human. [Q9UHF7-1]

Organism-specific databases

CTDi7227.
DisGeNETi7227.
GeneCardsiTRPS1.
HGNCiHGNC:12340. TRPS1.
HPAiHPA059359.
HPA060380.
MalaCardsiTRPS1.
MIMi150230. phenotype.
190350. phenotype.
190351. phenotype.
604386. gene.
neXtProtiNX_Q9UHF7.
OpenTargetsiENSG00000104447.
Orphaneti502. Langer-Giedion syndrome.
77258. Trichorhinophalangeal syndrome type 1 and 3.
PharmGKBiPA37013.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1601. Eukaryota.
COG5641. LUCA.
GeneTreeiENSGT00760000119221.
HOGENOMiHOG000146438.
HOVERGENiHBG067120.
InParanoidiQ9UHF7.
OMAiENKEHSC.
OrthoDBiEOG091G00VI.
PhylomeDBiQ9UHF7.
TreeFamiTF350812.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000104447-MONOMER.

Miscellaneous databases

ChiTaRSiTRPS1. human.
GeneWikiiTricho-rhino-phalangeal_syndrome_Type_1.
GenomeRNAii7227.
PROiQ9UHF7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104447.
CleanExiHS_TRPS1.
ExpressionAtlasiQ9UHF7. baseline and differential.
GenevisibleiQ9UHF7. HS.

Family and domain databases

Gene3Di3.30.50.10. 1 hit.
InterProiIPR028440. TRPS1/Elt-7.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR000679. Znf_GATA.
IPR013088. Znf_NHR/GATA.
[Graphical view]
PANTHERiPTHR10071:SF176. PTHR10071:SF176. 2 hits.
PfamiPF00320. GATA. 1 hit.
[Graphical view]
PRINTSiPR00619. GATAZNFINGER.
SMARTiSM00355. ZnF_C2H2. 9 hits.
SM00401. ZnF_GATA. 1 hit.
[Graphical view]
PROSITEiPS00344. 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.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTRPS1_HUMAN
AccessioniPrimary (citable) accession number: Q9UHF7
Secondary accession number(s): B4E1Z5
, Q08AU2, Q9NWE1, Q9UHH6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 27, 2002
Last sequence update: March 27, 2002
Last modified: November 30, 2016
This is version 152 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.