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Protein

Polypyrimidine tract-binding protein 3

Gene

PTBP3

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

Functioni

RNA-binding protein that mediates pre-mRNA alternative splicing regulation. Plays a role in the regulation of cell proliferation, differentiation and migration. Positive regulator of EPO-dependent erythropoiesis. Participates in cell differentiation regulation by repressing tissue-specific exons. Promotes FAS exon 6 skipping. Binds RNA, preferentially to both poly(G) and poly(U).4 Publications

GO - Molecular functioni

GO - Biological processi

  • anatomical structure morphogenesis Source: ProtInc
  • erythrocyte maturation Source: UniProtKB-KW
  • mRNA processing Source: UniProtKB-KW
  • negative regulation of RNA splicing Source: UniProtKB
  • regulation of cell differentiation Source: InterPro
  • RNA splicing Source: UniProtKB-KW

Keywordsi

Molecular functionRepressor, RNA-binding
Biological processDifferentiation, Erythrocyte maturation, mRNA processing, mRNA splicing

Names & Taxonomyi

Protein namesi
Recommended name:
Polypyrimidine tract-binding protein 3
Alternative name(s):
Regulator of differentiation 1
Short name:
Rod1
Gene namesi
Name:PTBP3
Synonyms:ROD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000119314.15
HGNCiHGNC:10253 PTBP3
MIMi607527 gene
neXtProtiNX_O95758

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Organism-specific databases

DisGeNETi9991
OpenTargetsiENSG00000119314
PharmGKBiPA34625

Polymorphism and mutation databases

BioMutaiPTBP3

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000818731 – 552Polypyrimidine tract-binding protein 3Add BLAST552

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineBy similarity1
Modified residuei17PhosphoserineBy similarity1
Cross-linki65Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity
Modified residuei127PhosphotyrosineBy similarity1
Modified residuei138PhosphothreonineBy similarity1
Cross-linki216Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity
Modified residuei423N6-acetyllysineCombined sources1
Modified residuei454PhosphoserineCombined sources1
Isoform 1 (identifier: O95758-1)
Modified residuei1N-acetylmethionineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiO95758
PaxDbiO95758
PeptideAtlasiO95758
PRIDEiO95758
ProteomicsDBi51028
51029 [O95758-1]
51030 [O95758-2]
51031 [O95758-4]
51032 [O95758-5]
51033 [O95758-6]

PTM databases

iPTMnetiO95758
PhosphoSitePlusiO95758
SwissPalmiO95758

Expressioni

Tissue specificityi

Expressed in several hematopoietic cell lines examined.1 Publication

Gene expression databases

BgeeiENSG00000119314
CleanExiHS_ROD1
ExpressionAtlasiO95758 baseline and differential
GenevisibleiO95758 HS

Organism-specific databases

HPAiHPA048374

Interactioni

Subunit structurei

Interacts with THBS4 (via the acidic amphipathic C-terminus).1 Publication

Protein-protein interaction databases

BioGridi115312, 58 interactors
IntActiO95758, 283 interactors
MINTiO95758
STRINGi9606.ENSP00000334499

Structurei

3D structure databases

ProteinModelPortaliO95758
SMRiO95758
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini59 – 143RRM 1PROSITE-ProRule annotationAdd BLAST85
Domaini182 – 258RRM 2PROSITE-ProRule annotationAdd BLAST77
Domaini358 – 432RRM 3PROSITE-ProRule annotationAdd BLAST75
Domaini475 – 550RRM 4PROSITE-ProRule annotationAdd BLAST76

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG1190 Eukaryota
ENOG410XPMZ LUCA
GeneTreeiENSGT00550000074508
HOGENOMiHOG000231699
HOVERGENiHBG069548
InParanoidiO95758
KOiK17844
OMAiCVSERAQ
OrthoDBiEOG091G0Z5R
PhylomeDBiO95758
TreeFamiTF319824

Family and domain databases

CDDicd12779 RRM1_ROD1, 1 hit
cd12693 RRM2_PTBP1_like, 1 hit
cd12703 RRM4_ROD1, 1 hit
Gene3Di3.30.70.330, 4 hits
InterProiView protein in InterPro
IPR006536 HnRNP-L/PTB
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR034798 PTBP1/2/3_RRM2
IPR033110 PTBP3_RRM4
IPR035979 RBD_domain_sf
IPR034326 ROD1_RRM1
IPR000504 RRM_dom
PfamiView protein in Pfam
PF00076 RRM_1, 2 hits
SMARTiView protein in SMART
SM00360 RRM, 4 hits
SUPFAMiSSF54928 SSF54928, 4 hits
TIGRFAMsiTIGR01649 hnRNP-L_PTB, 1 hit
PROSITEiView protein in PROSITE
PS50102 RRM, 4 hits

Sequences (7)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 3 (identifier: O95758-3) [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
MDGVVTDLIT VGLKRGSDEL LSSGIINGPF TMNSSTPSTA NGNDSKKFKR
60 70 80 90 100
DRPPCSPSRV LHLRKIPCDV TEAEIISLGL PFGKVTNLLM LKGKSQAFLE
110 120 130 140 150
MASEEAAVTM VNYYTPITPH LRSQPVYIQY SNHRELKTDN LPNQARAQAA
160 170 180 190 200
LQAVSAVQSG SLALSGGPSN EGTVLPGQSP VLRIIIENLF YPVTLEVLHQ
210 220 230 240 250
IFSKFGTVLK IITFTKNNQF QALLQYADPV NAHYAKMALD GQNIYNACCT
260 270 280 290 300
LRIDFSKLTS LNVKYNNDKS RDFTRLDLPT GDGQPSLEPP MAAAFGAPGI
310 320 330 340 350
ISSPYAGAAG FAPAIGFPQA TGLSVPAVPG ALGPLTITSS AVTGRMAIPG
360 370 380 390 400
ASGIPGNSVL LVTNLNPDLI TPHGLFILFG VYGDVHRVKI MFNKKENALV
410 420 430 440 450
QMADANQAQL AMNHLSGQRL YGKVLRATLS KHQAVQLPRE GQEDQGLTKD
460 470 480 490 500
FSNSPLHRFK KPGSKNFQNI FPPSATLHLS NIPPSVTVDD LKNLFIEAGC
510 520 530 540 550
SVKAFKFFQK DRKMALIQLG SVEEAIQALI ELHNHDLGEN HHLRVSFSKS

TI
Length:552
Mass (Da):59,690
Last modified:December 16, 2008 - v2
Checksum:i6254928B781A436A
GO
Isoform 1 (identifier: O95758-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-31: Missing.

Show »
Length:521
Mass (Da):56,502
Checksum:iB73CC6F98200B704
GO
Isoform 2 (identifier: O95758-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-31: Missing.
     39-39: T → TGVY
     510-552: KDRKMALIQL...LRVSFSKSTI → GLANSWAQVI...VPTRYFWTKN

Show »
Length:547
Mass (Da):59,112
Checksum:iCA0668ECF9F04545
GO
Isoform 4 (identifier: O95758-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-14: MDGVVTDLITVGLK → MDASPSPFSLPKKLNELSAR

Show »
Length:558
Mass (Da):60,417
Checksum:iD20E5BA201A6CA84
GO
Isoform 5 (identifier: O95758-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     39-39: T → TGVY

Show »
Length:555
Mass (Da):60,009
Checksum:iBD53F9AB611E8C2A
GO
Isoform 6 (identifier: O95758-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-31: Missing.
     39-39: T → TGVY

Show »
Length:524
Mass (Da):56,821
Checksum:iA82C6B5E094AFED0
GO
Isoform 7 (identifier: O95758-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-96: MDGVVTDLIT...NLLMLKGKSQ → M

Note: No experimental confirmation available.
Show »
Length:457
Mass (Da):49,540
Checksum:iE3C98C4381901EDE
GO

Sequence cautioni

The sequence AAH39896 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAA75466 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BI463123 differs from that shown. Reason: Frameshift at position 92.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti259T → I in BAG50959 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0456081 – 96MDGVV…KGKSQ → M in isoform 7. 1 PublicationAdd BLAST96
Alternative sequenceiVSP_0359851 – 31Missing in isoform 1, isoform 2 and isoform 6. 2 PublicationsAdd BLAST31
Alternative sequenceiVSP_0359861 – 14MDGVV…TVGLK → MDASPSPFSLPKKLNELSAR in isoform 4. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_01086739T → TGVY in isoform 2, isoform 5 and isoform 6. 3 Publications1
Alternative sequenceiVSP_010868510 – 552KDRKM…SKSTI → GLANSWAQVILLLPPPHSAG ITGMSHHAWLSVLFSVSVPS VSSAYMFSILSCSFSSVPTR YFWTKN in isoform 2. 1 PublicationAdd BLAST43

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001685 mRNA Translation: BAG50959.1
AK302558 mRNA Translation: BAG63824.1
CR749471 mRNA Translation: CAH18301.1
AL158824 Genomic DNA No translation available.
AL359073 Genomic DNA No translation available.
CH471105 Genomic DNA Translation: EAW59100.1
BC039896 mRNA Translation: AAH39896.1 Different initiation.
BC044585 mRNA Translation: AAH44585.1
BI463123 mRNA No translation available.
AB023967 mRNA Translation: BAA75466.1 Different initiation.
CCDSiCCDS55332.1 [O95758-6]
CCDS55333.1 [O95758-5]
CCDS59140.1 [O95758-7]
CCDS59141.1 [O95758-4]
CCDS6784.1 [O95758-3]
RefSeqiNP_001157260.1, NM_001163788.2 [O95758-6]
NP_001157262.1, NM_001163790.2 [O95758-5]
NP_001231825.1, NM_001244896.1 [O95758-7]
NP_001231826.1, NM_001244897.1 [O95758-2]
NP_001231827.1, NM_001244898.1 [O95758-4]
NP_005147.3, NM_005156.6 [O95758-3]
XP_006717409.1, XM_006717346.1 [O95758-1]
UniGeneiHs.269988

Genome annotation databases

EnsembliENST00000334318; ENSP00000334499; ENSG00000119314 [O95758-5]
ENST00000343327; ENSP00000340705; ENSG00000119314 [O95758-7]
ENST00000374255; ENSP00000363373; ENSG00000119314 [O95758-3]
ENST00000374257; ENSP00000363375; ENSG00000119314 [O95758-6]
ENST00000458258; ENSP00000414921; ENSG00000119314 [O95758-4]
GeneIDi9991
KEGGihsa:9991
UCSCiuc004bfv.4 human [O95758-3]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiPTBP3_HUMAN
AccessioniPrimary (citable) accession number: O95758
Secondary accession number(s): B1ALY2
, B1ALY3, B1ALY5, B1ALY6, B3KME7, Q68DB9, Q86YB3, Q86YH9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: December 16, 2008
Last modified: June 20, 2018
This is version 153 of the entry and version 2 of the sequence. See 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 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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