UniProtKB - Q9ULH7 (MRTFB_HUMAN)
Protein
Myocardin-related transcription factor B
Gene
MRTFB
Organism
Homo sapiens (Human)
Status
Functioni
Acts as a transcriptional coactivator of serum response factor (SRF). Required for skeletal myogenic differentiation.1 Publication
GO - Molecular functioni
- cadherin binding Source: BHF-UCL
- transcription coactivator activity Source: UniProtKB
GO - Biological processi
- muscle organ development Source: UniProtKB-KW
- positive regulation of striated muscle tissue development Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- smooth muscle cell differentiation Source: GO_Central
Keywordsi
Molecular function | Activator, Developmental protein |
Biological process | Differentiation, Myogenesis, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q9ULH7 |
SIGNORi | Q9ULH7 |
Names & Taxonomyi
Protein namesi | Recommended name: Myocardin-related transcription factor BCuratedShort name: MRTF-BCurated Alternative name(s): MKL/myocardin-like protein 2 Megakaryoblastic leukemia 21 Publication |
Gene namesi | |
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
EuPathDBi | HostDB:ENSG00000186260.16 |
HGNCi | HGNC:29819, MRTFB |
MIMi | 609463, gene |
neXtProti | NX_Q9ULH7 |
Subcellular locationi
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
A chromosomal aberration involving C11orf95 is found in 3 chondroid lipomas. Translocation t(11;16)(q13;p13) with C11orf95 produces a C11orf95-MRTFB fusion protein (PubMed:20607705).1 Publication
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 394 | Breakpoint for translocation to form C11orf95-MRTFB fusion protein | 1 |
Organism-specific databases
DisGeNETi | 57496 |
OpenTargetsi | ENSG00000186260 |
PharmGKBi | PA134981329 |
Miscellaneous databases
Pharosi | Q9ULH7, Tbio |
Polymorphism and mutation databases
BioMutai | MKL2 |
DMDMi | 32363203 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000126628 | 1 – 1088 | Myocardin-related transcription factor BAdd BLAST | 1088 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Modified residuei | 66 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 367 | PhosphothreonineCombined sources | 1 | ||
Modified residuei | 370 | PhosphothreonineCombined sources | 1 | ||
Modified residuei | 541 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 543 | PhosphoserineCombined sources | 1 | ||
Cross-linki | 628 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)Combined sources | |||
Modified residuei | 921 | PhosphoserineCombined sources | 1 | ||
Isoform 4 (identifier: Q9ULH7-4) | |||||
Modified residuei | 22 | PhosphoserineCombined sources | 1 | ||
Isoform 5 (identifier: Q9ULH7-5) | |||||
Modified residuei | 22 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
O-glycosylated.By similarity
Keywords - PTMi
Glycoprotein, Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q9ULH7 |
jPOSTi | Q9ULH7 |
MassIVEi | Q9ULH7 |
PaxDbi | Q9ULH7 |
PeptideAtlasi | Q9ULH7 |
PRIDEi | Q9ULH7 |
ProteomicsDBi | 4158 85028 [Q9ULH7-1] 85029 [Q9ULH7-2] 85030 [Q9ULH7-3] 85031 [Q9ULH7-4] |
PTM databases
iPTMneti | Q9ULH7 |
MetOSitei | Q9ULH7 |
PhosphoSitePlusi | Q9ULH7 |
Expressioni
Gene expression databases
Bgeei | ENSG00000186260, Expressed in forebrain and 241 other tissues |
ExpressionAtlasi | Q9ULH7, baseline and differential |
Genevisiblei | Q9ULH7, HS |
Organism-specific databases
HPAi | ENSG00000186260, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with MRTFA and SRF.
1 PublicationBinary interactionsi
Q9ULH7
With | #Exp. | IntAct |
---|---|---|
SRF [P11831] | 3 | EBI-493007,EBI-493034 |
GO - Molecular functioni
- cadherin binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 121563, 25 interactors |
ELMi | Q9ULH7 |
IntActi | Q9ULH7, 14 interactors |
MINTi | Q9ULH7 |
STRINGi | 9606.ENSP00000339086 |
Miscellaneous databases
RNActi | Q9ULH7, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 40 – 65 | RPEL 1Add BLAST | 26 | |
Repeati | 84 – 109 | RPEL 2Add BLAST | 26 | |
Repeati | 128 – 153 | RPEL 3Add BLAST | 26 | |
Domaini | 389 – 423 | SAPPROSITE-ProRule annotationAdd BLAST | 35 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 563 – 591 | Required for interaction with itself and with MRTFAAdd BLAST | 29 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 545 – 601 | Sequence analysisAdd BLAST | 57 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 671 – 787 | Gln-richAdd BLAST | 117 |
Domaini
The N-terminal region is required for nuclear localization and the C-terminal region mediates transcriptional activity.By similarity
Keywords - Domaini
Coiled coil, RepeatPhylogenomic databases
eggNOGi | ENOG502QU1Z, Eukaryota |
GeneTreei | ENSGT00950000182979 |
HOGENOMi | CLU_007042_0_0_1 |
InParanoidi | Q9ULH7 |
OMAi | MEQQPYS |
OrthoDBi | 190145at2759 |
PhylomeDBi | Q9ULH7 |
TreeFami | TF326024 |
Family and domain databases
Gene3Di | 1.10.720.30, 1 hit |
InterProi | View protein in InterPro IPR043451, Myocardin-like IPR004018, RPEL_repeat IPR003034, SAP_dom IPR036361, SAP_dom_sf |
PANTHERi | PTHR22793, PTHR22793, 1 hit |
Pfami | View protein in Pfam PF02755, RPEL, 2 hits PF02037, SAP, 1 hit |
SMARTi | View protein in SMART SM00707, RPEL, 3 hits SM00513, SAP, 1 hit |
SUPFAMi | SSF68906, SSF68906, 1 hit |
PROSITEi | View protein in PROSITE PS51073, RPEL, 3 hits PS50800, SAP, 1 hit |
s (5+)i Sequence
Sequence statusi: Complete.
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 5 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9ULH7-1) [UniParc]FASTAAdd to basket
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
MIDSSKKQQQ GFPEILTAGD FEPLKEKECL EGSNQKSLKE VLQLRLQQRR
60 70 80 90 100
TREQLVDQGI MPPLKSPAAF HEQIKSLERA RTENFLKHKI RSRPDRSELV
110 120 130 140 150
RMHILEETFA EPSLQATQMK LKRARLADDL NEKIAQRPGP MELVEKNILP
160 170 180 190 200
VDSSVKEAII GVGKEDYPHT QGDFSFDEDS SDALSPDQPA SQESQGSAAS
210 220 230 240 250
PSEPKVSESP SPVTTNTPAQ FASVSPTVPE FLKTPPTADQ PPPRPAAPVL
260 270 280 290 300
PTNTVSSAKP GPALVKQSHP KNPNDKHRSK KCKDPKPRVK KLKYHQYIPP
310 320 330 340 350
DQKGEKNEPQ MDSNYARLLQ QQQLFLQLQI LSQQKQHYNY QTILPAPFKP
360 370 380 390 400
LNDKNSNSGN SALNNATPNT PRQNTSTPVR KPGPLPSSLD DLKVSELKTE
410 420 430 440 450
LKLRGLPVSG TKPDLIERLK PYQEVNSSGL AAGGIVAVSS SAIVTSNPEV
460 470 480 490 500
TVALPVTTLH NTVTSSVSTL KAELPPTGTS NATRVENVHS PLPISPSPSE
510 520 530 540 550
QSSLSTDDTN MADTFTEIMT MMSPSQFLSS SPLRMTNNED SLSPTSSTLS
560 570 580 590 600
NLELDAAEKD RKLQEKEKQI EELKRKLEQE QKLVEVLKMQ LEVEKRGQQQ
610 620 630 640 650
RPLEAQPSAP GHSVKSDQKH GSLGSSIKDE ASLPDCSSSR QPIPVASHAV
660 670 680 690 700
GQPVSTGGQT LVAKKAVVIK QEVPVGQAEQ QSVVSQFYVS SQGQPPPAVV
710 720 730 740 750
AQPQALLTTQ TAQLLLPVSI QGSSVTSVQL PVGSLKLQTS PQAGMQTQPQ
760 770 780 790 800
IATAAQIPTA ALASGLAPTV PQTQDTFPQH VLSQPQQVRK VFTNSASSNT
810 820 830 840 850
VLPYQRHPAP AVQQPFINKA SNSVLQSRNA PLPSLQNGPN TPNKPSSPPP
860 870 880 890 900
PQQFVVQHSL FGSPVAKTKD PPRYEEAIKQ TRSTQAPLPE ISNAHSQQMD
910 920 930 940 950
DLFDILIKSG EISLPIKEEP SPISKMRPVT ASITTMPVNT VVSRPPPQVQ
960 970 980 990 1000
MAPPVSLEPM GSLSASLENQ LEAFLDGTLP SANEIPPLQS SSEDREPFSL
1010 1020 1030 1040 1050
IEDLQNDLLS HSGMLDHSHS PMETSETQFA AGTPCLSLDL SDSNLDNMEW
1060 1070 1080
LDITMPNSSS GLTPLSTTAP SMFSADFLDP QDLPLPWD
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketI3L2S3 | I3L2S3_HUMAN | Phosphatase and actin regulator | MRTFB MKL2, hCG_1982625 | 369 | Annotation score: | ||
I3L3Z7 | I3L3Z7_HUMAN | Myocardin-related transcription fac... | MRTFB | 52 | Annotation score: | ||
I3L0U1 | I3L0U1_HUMAN | Myocardin-related transcription fac... | MRTFB | 70 | Annotation score: | ||
I3L2A0 | I3L2A0_HUMAN | Myocardin-related transcription fac... | MRTFB | 191 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 266 | K → R in BAC04200 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 350 | P → A in AAQ82435 (PubMed:14565952).Curated | 1 | |
Sequence conflicti | 592 | E → G in CAH18657 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 598 | Q → R in AAQ82435 (PubMed:14565952).Curated | 1 | |
Sequence conflicti | 629 | D → G in AAQ82435 (PubMed:14565952).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_064732 | 390 | D → G Found in a renal cell carcinoma sample; somatic mutation. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_007653 | 1 – 41 | MIDSS…SLKEV → M in isoform 2. 1 PublicationAdd BLAST | 41 | |
Alternative sequenceiVSP_013355 | 1 – 40 | MIDSS…KSLKE → MDHTGAIDTEDEVGPLAHLA PSPQSEAVAHEFQELSLQSS QNLPPLNERKN in isoform 4 and isoform 5. 3 PublicationsAdd BLAST | 40 | |
Alternative sequenceiVSP_007656 | 350 – 461 | PLNDK…TTLHN → YGGAHAILNAGFSVVFMRNY KLPKVECCHLFVLSNDFHFF VIRAYHTVSEVHMVRVACIP FQFLSSKIGSEFLQVRNAFS QLFIQICLLLEHQNSTRCSE KSVSSIIPGINS in isoform 3. 1 PublicationAdd BLAST | 112 | |
Alternative sequenceiVSP_007654 | 350 – 418 | PLNDK…DLIER → AYHTVSEVHMVRVACIPFQF LSSKIGSEFLQVRNAFSQLF IQICLLLEHQNSTRCSEKSV SSIIPGINS in isoform 2. 1 PublicationAdd BLAST | 69 | |
Alternative sequenceiVSP_007655 | 419 – 1088 | Missing in isoform 2. 1 PublicationAdd BLAST | 670 | |
Alternative sequenceiVSP_007657 | 462 – 1088 | Missing in isoform 3. 1 PublicationAdd BLAST | 627 | |
Alternative sequenceiVSP_013356 | 689 – 738 | Missing in isoform 4. 1 PublicationAdd BLAST | 50 |
Sequence databases
Genome annotation databases
Ensembli | ENST00000318282; ENSP00000339086; ENSG00000186260 [Q9ULH7-4] ENST00000571589; ENSP00000459626; ENSG00000186260 [Q9ULH7-5] ENST00000573051; ENSP00000460589; ENSG00000186260 [Q9ULH7-2] ENST00000574045; ENSP00000459205; ENSG00000186260 [Q9ULH7-4] |
GeneIDi | 57496 |
KEGGi | hsa:57496 |
UCSCi | uc002dcg.4, human [Q9ULH7-1] |
Keywords - Coding sequence diversityi
Alternative splicing, Chromosomal rearrangement, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
3D structure databases
SMRi | Q9ULH7 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 121563, 25 interactors |
ELMi | Q9ULH7 |
IntActi | Q9ULH7, 14 interactors |
MINTi | Q9ULH7 |
STRINGi | 9606.ENSP00000339086 |
PTM databases
iPTMneti | Q9ULH7 |
MetOSitei | Q9ULH7 |
PhosphoSitePlusi | Q9ULH7 |
Polymorphism and mutation databases
BioMutai | MKL2 |
DMDMi | 32363203 |
Proteomic databases
EPDi | Q9ULH7 |
jPOSTi | Q9ULH7 |
MassIVEi | Q9ULH7 |
PaxDbi | Q9ULH7 |
PeptideAtlasi | Q9ULH7 |
PRIDEi | Q9ULH7 |
ProteomicsDBi | 4158 85028 [Q9ULH7-1] 85029 [Q9ULH7-2] 85030 [Q9ULH7-3] 85031 [Q9ULH7-4] |
Protocols and materials databases
Antibodypediai | 1832, 110 antibodies |
Genome annotation databases
Ensembli | ENST00000318282; ENSP00000339086; ENSG00000186260 [Q9ULH7-4] ENST00000571589; ENSP00000459626; ENSG00000186260 [Q9ULH7-5] ENST00000573051; ENSP00000460589; ENSG00000186260 [Q9ULH7-2] ENST00000574045; ENSP00000459205; ENSG00000186260 [Q9ULH7-4] |
GeneIDi | 57496 |
KEGGi | hsa:57496 |
UCSCi | uc002dcg.4, human [Q9ULH7-1] |
Organism-specific databases
CTDi | 57496 |
DisGeNETi | 57496 |
EuPathDBi | HostDB:ENSG00000186260.16 |
GeneCardsi | MRTFB |
HGNCi | HGNC:29819, MRTFB |
HPAi | ENSG00000186260, Low tissue specificity |
MIMi | 609463, gene |
neXtProti | NX_Q9ULH7 |
OpenTargetsi | ENSG00000186260 |
PharmGKBi | PA134981329 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QU1Z, Eukaryota |
GeneTreei | ENSGT00950000182979 |
HOGENOMi | CLU_007042_0_0_1 |
InParanoidi | Q9ULH7 |
OMAi | MEQQPYS |
OrthoDBi | 190145at2759 |
PhylomeDBi | Q9ULH7 |
TreeFami | TF326024 |
Enzyme and pathway databases
PathwayCommonsi | Q9ULH7 |
SIGNORi | Q9ULH7 |
Miscellaneous databases
BioGRID-ORCSi | 57496, 1 hit in 849 CRISPR screens |
ChiTaRSi | MKL2, human |
GeneWikii | MKL2 |
GenomeRNAii | 57496 |
Pharosi | Q9ULH7, Tbio |
PROi | PR:Q9ULH7 |
RNActi | Q9ULH7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000186260, Expressed in forebrain and 241 other tissues |
ExpressionAtlasi | Q9ULH7, baseline and differential |
Genevisiblei | Q9ULH7, HS |
Family and domain databases
Gene3Di | 1.10.720.30, 1 hit |
InterProi | View protein in InterPro IPR043451, Myocardin-like IPR004018, RPEL_repeat IPR003034, SAP_dom IPR036361, SAP_dom_sf |
PANTHERi | PTHR22793, PTHR22793, 1 hit |
Pfami | View protein in Pfam PF02755, RPEL, 2 hits PF02037, SAP, 1 hit |
SMARTi | View protein in SMART SM00707, RPEL, 3 hits SM00513, SAP, 1 hit |
SUPFAMi | SSF68906, SSF68906, 1 hit |
PROSITEi | View protein in PROSITE PS51073, RPEL, 3 hits PS50800, SAP, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MRTFB_HUMAN | |
Accessioni | Q9ULH7Primary (citable) accession number: Q9ULH7 Secondary accession number(s): A6ND53 Q8N226 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 27, 2003 |
Last sequence update: | June 27, 2003 | |
Last modified: | December 2, 2020 | |
This is version 170 of the entry and version 3 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 polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations