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UniProtKB - Q9ULH7 (MRTFB_HUMAN)

Protein

Myocardin-related transcription factor B

Gene

MRTFB

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

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
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionActivator, Developmental protein
Biological processDifferentiation, Myogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

SIGNORiQ9ULH7

Names & Taxonomyi

Protein namesi
Recommended name:
Myocardin-related transcription factor BCurated
Short name:
MRTF-BCurated
Alternative name(s):
MKL/myocardin-like protein 2
Megakaryoblastic leukemia 21 Publication
Gene namesi
Name:MRTFBImported
Synonyms:KIAA1243, MKL21 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000186260.16
HGNCiHGNC:29819 MRTFB
MIMi609463 gene
neXtProtiNX_Q9ULH7

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

Keywords - Cellular componenti

Nucleus

Pathology & 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 keyPosition(s)DescriptionActionsGraphical viewLength
Sitei394Breakpoint for translocation to form C11orf95-MRTFB fusion protein1

Organism-specific databases

DisGeNETi57496
OpenTargetsiENSG00000186260
PharmGKBiPA134981329

Polymorphism and mutation databases

BioMutaiMKL2
DMDMi32363203

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001266281 – 1088Myocardin-related transcription factor BAdd BLAST1088

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei66PhosphoserineCombined sources1
Modified residuei367PhosphothreonineCombined sources1
Modified residuei370PhosphothreonineCombined sources1
Modified residuei541PhosphoserineCombined sources1
Modified residuei543PhosphoserineCombined sources1
Cross-linki628Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)Combined sources
Modified residuei921PhosphoserineCombined sources1
Isoform 4 (identifier: Q9ULH7-4)
Modified residuei22PhosphoserineCombined sources1
Isoform 5 (identifier: Q9ULH7-5)
Modified residuei22PhosphoserineCombined sources1

Post-translational modificationi

O-glycosylated.By similarity

Keywords - PTMi

Glycoprotein, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9ULH7
PaxDbiQ9ULH7
PeptideAtlasiQ9ULH7
PRIDEiQ9ULH7
ProteomicsDBi85028
85029 [Q9ULH7-2]
85030 [Q9ULH7-3]
85031 [Q9ULH7-4]

PTM databases

iPTMnetiQ9ULH7
PhosphoSitePlusiQ9ULH7

Miscellaneous databases

PMAP-CutDBiQ9ULH7

Expressioni

Gene expression databases

BgeeiENSG00000186260 Expressed in 230 organ(s), highest expression level in forebrain
CleanExiHS_MKL2
ExpressionAtlasiQ9ULH7 baseline and differential
GenevisibleiQ9ULH7 HS

Organism-specific databases

HPAiHPA011286

Interactioni

Subunit structurei

Interacts with MRTFA and SRF.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
SRFP118313EBI-493007,EBI-493034

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi121563, 14 interactors
ELMiQ9ULH7
IntActiQ9ULH7, 8 interactors
MINTiQ9ULH7
STRINGi9606.ENSP00000339086

Structurei

3D structure databases

ProteinModelPortaliQ9ULH7
SMRiQ9ULH7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati40 – 65RPEL 1Add BLAST26
Repeati84 – 109RPEL 2Add BLAST26
Repeati128 – 153RPEL 3Add BLAST26
Domaini389 – 423SAPPROSITE-ProRule annotationAdd BLAST35

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni563 – 591Required for interaction with itself and with MRTFAAdd BLAST29

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili545 – 601Sequence analysisAdd BLAST57

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi671 – 787Gln-richAdd BLAST117

Domaini

The N-terminal region is required for nuclear localization and the C-terminal region mediates transcriptional activity.By similarity

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiENOG410IFJX Eukaryota
ENOG41101AM LUCA
GeneTreeiENSGT00530000063195
HOGENOMiHOG000038001
HOVERGENiHBG036493
InParanoidiQ9ULH7
KOiK22525
OMAiFAASTPC
OrthoDBiEOG091G01ZY
PhylomeDBiQ9ULH7
TreeFamiTF326024

Family and domain databases

Gene3Di1.10.720.30, 1 hit
InterProiView protein in InterPro
IPR004018 RPEL_repeat
IPR003034 SAP_dom
IPR036361 SAP_dom_sf
PfamiView protein in Pfam
PF02755 RPEL, 2 hits
PF02037 SAP, 1 hit
SMARTiView protein in SMART
SM00707 RPEL, 3 hits
SM00513 SAP, 1 hit
SUPFAMiSSF68906 SSF68906, 1 hit
PROSITEiView protein in PROSITE
PS51073 RPEL, 3 hits
PS50800 SAP, 1 hit

Sequences (5+)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

This 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 '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
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
Length:1,088
Mass (Da):118,127
Last modified:June 27, 2003 - v3
Checksum:i0CA4A52A115C0C83
GO
Isoform 2 (identifier: Q9ULH7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-41: MIDSSKKQQQGFPEILTAGDFEPLKEKECLEGSNQKSLKEV → M
     350-418: PLNDKNSNSG...SGTKPDLIER → AYHTVSEVHM...VSSIIPGINS
     419-1088: Missing.

Note: No experimental confirmation available.
Show »
Length:378
Mass (Da):42,496
Checksum:i265D363A09230333
GO
Isoform 3 (identifier: Q9ULH7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     350-461: PLNDKNSNSG...VALPVTTLHN → YGGAHAILNA...VSSIIPGINS
     462-1088: Missing.

Note: No experimental confirmation available.
Show »
Length:461
Mass (Da):51,902
Checksum:i94540BFA3F4213AB
GO
Isoform 4 (identifier: Q9ULH7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-40: MIDSSKKQQQ...EGSNQKSLKE → MDHTGAIDTE...NLPPLNERKN
     689-738: Missing.

Show »
Length:1,049
Mass (Da):114,119
Checksum:iE8DC053F48F8AA4F
GO
Isoform 5 (identifier: Q9ULH7-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-40: MIDSSKKQQQ...EGSNQKSLKE → MDHTGAIDTE...NLPPLNERKN

Show »
Length:1,099
Mass (Da):119,165
Checksum:i36FB8F1653F10868
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
I3L2S3I3L2S3_HUMAN
Phosphatase and actin regulator
MRTFB MKL2, hCG_1982625
369Annotation score:
I3L2A0I3L2A0_HUMAN
Myocardin-related transcription fac...
MRTFB
191Annotation score:
I3L0U1I3L0U1_HUMAN
Myocardin-related transcription fac...
MRTFB
70Annotation score:
I3L3Z7I3L3Z7_HUMAN
Myocardin-related transcription fac...
MRTFB
52Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti266K → R in BAC04200 (PubMed:14702039).Curated1
Sequence conflicti350P → A in AAQ82435 (PubMed:14565952).Curated1
Sequence conflicti592E → G in CAH18657 (PubMed:17974005).Curated1
Sequence conflicti598Q → R in AAQ82435 (PubMed:14565952).Curated1
Sequence conflicti629D → G in AAQ82435 (PubMed:14565952).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064732390D → G Found in a renal cell carcinoma sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0076531 – 41MIDSS…SLKEV → M in isoform 2. 1 PublicationAdd BLAST41
Alternative sequenceiVSP_0133551 – 40MIDSS…KSLKE → MDHTGAIDTEDEVGPLAHLA PSPQSEAVAHEFQELSLQSS QNLPPLNERKN in isoform 4 and isoform 5. 3 PublicationsAdd BLAST40
Alternative sequenceiVSP_007656350 – 461PLNDK…TTLHN → YGGAHAILNAGFSVVFMRNY KLPKVECCHLFVLSNDFHFF VIRAYHTVSEVHMVRVACIP FQFLSSKIGSEFLQVRNAFS QLFIQICLLLEHQNSTRCSE KSVSSIIPGINS in isoform 3. 1 PublicationAdd BLAST112
Alternative sequenceiVSP_007654350 – 418PLNDK…DLIER → AYHTVSEVHMVRVACIPFQF LSSKIGSEFLQVRNAFSQLF IQICLLLEHQNSTRCSEKSV SSIIPGINS in isoform 2. 1 PublicationAdd BLAST69
Alternative sequenceiVSP_007655419 – 1088Missing in isoform 2. 1 PublicationAdd BLAST670
Alternative sequenceiVSP_007657462 – 1088Missing in isoform 3. 1 PublicationAdd BLAST627
Alternative sequenceiVSP_013356689 – 738Missing in isoform 4. 1 PublicationAdd BLAST50

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY374297 mRNA Translation: AAQ82435.1
AK093577 mRNA Translation: BAC04200.1
AK294765 mRNA Translation: BAG57899.1
AC012626 Genomic DNA No translation available.
AC040173 Genomic DNA No translation available.
AC130650 Genomic DNA No translation available.
CH471112 Genomic DNA Translation: EAW85112.1
BC047761 mRNA Translation: AAH47761.1
BC136260 mRNA Translation: AAI36261.1
BC171750 mRNA Translation: AAI71750.1
AB033069 mRNA Translation: BAA86557.2
CR749797 mRNA Translation: CAH18657.1
CCDSiCCDS32391.1 [Q9ULH7-4]
CCDS76823.1 [Q9ULH7-5]
RefSeqiNP_001295071.1, NM_001308142.1 [Q9ULH7-5]
NP_054767.3, NM_014048.4 [Q9ULH7-4]
XP_005255509.1, XM_005255452.3 [Q9ULH7-5]
XP_005255510.1, XM_005255453.4 [Q9ULH7-5]
XP_005255512.1, XM_005255455.3 [Q9ULH7-1]
XP_006720971.1, XM_006720908.3 [Q9ULH7-5]
XP_006720972.1, XM_006720909.3 [Q9ULH7-5]
XP_006720977.1, XM_006720914.2 [Q9ULH7-4]
XP_011520870.1, XM_011522568.2 [Q9ULH7-5]
XP_016878990.1, XM_017023501.1 [Q9ULH7-5]
XP_016878991.1, XM_017023502.1 [Q9ULH7-5]
UniGeneiHs.49143
Hs.683854

Genome annotation databases

EnsembliENST00000318282; ENSP00000339086; ENSG00000186260 [Q9ULH7-4]
ENST00000571589; ENSP00000459626; ENSG00000186260 [Q9ULH7-5]
ENST00000573051; ENSP00000460589; ENSG00000186260 [Q9ULH7-2]
ENST00000574045; ENSP00000459205; ENSG00000186260 [Q9ULH7-4]
GeneIDi57496
KEGGihsa:57496
UCSCiuc002dcg.4 human [Q9ULH7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY374297 mRNA Translation: AAQ82435.1
AK093577 mRNA Translation: BAC04200.1
AK294765 mRNA Translation: BAG57899.1
AC012626 Genomic DNA No translation available.
AC040173 Genomic DNA No translation available.
AC130650 Genomic DNA No translation available.
CH471112 Genomic DNA Translation: EAW85112.1
BC047761 mRNA Translation: AAH47761.1
BC136260 mRNA Translation: AAI36261.1
BC171750 mRNA Translation: AAI71750.1
AB033069 mRNA Translation: BAA86557.2
CR749797 mRNA Translation: CAH18657.1
CCDSiCCDS32391.1 [Q9ULH7-4]
CCDS76823.1 [Q9ULH7-5]
RefSeqiNP_001295071.1, NM_001308142.1 [Q9ULH7-5]
NP_054767.3, NM_014048.4 [Q9ULH7-4]
XP_005255509.1, XM_005255452.3 [Q9ULH7-5]
XP_005255510.1, XM_005255453.4 [Q9ULH7-5]
XP_005255512.1, XM_005255455.3 [Q9ULH7-1]
XP_006720971.1, XM_006720908.3 [Q9ULH7-5]
XP_006720972.1, XM_006720909.3 [Q9ULH7-5]
XP_006720977.1, XM_006720914.2 [Q9ULH7-4]
XP_011520870.1, XM_011522568.2 [Q9ULH7-5]
XP_016878990.1, XM_017023501.1 [Q9ULH7-5]
XP_016878991.1, XM_017023502.1 [Q9ULH7-5]
UniGeneiHs.49143
Hs.683854

3D structure databases

ProteinModelPortaliQ9ULH7
SMRiQ9ULH7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121563, 14 interactors
ELMiQ9ULH7
IntActiQ9ULH7, 8 interactors
MINTiQ9ULH7
STRINGi9606.ENSP00000339086

PTM databases

iPTMnetiQ9ULH7
PhosphoSitePlusiQ9ULH7

Polymorphism and mutation databases

BioMutaiMKL2
DMDMi32363203

Proteomic databases

EPDiQ9ULH7
PaxDbiQ9ULH7
PeptideAtlasiQ9ULH7
PRIDEiQ9ULH7
ProteomicsDBi85028
85029 [Q9ULH7-2]
85030 [Q9ULH7-3]
85031 [Q9ULH7-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000318282; ENSP00000339086; ENSG00000186260 [Q9ULH7-4]
ENST00000571589; ENSP00000459626; ENSG00000186260 [Q9ULH7-5]
ENST00000573051; ENSP00000460589; ENSG00000186260 [Q9ULH7-2]
ENST00000574045; ENSP00000459205; ENSG00000186260 [Q9ULH7-4]
GeneIDi57496
KEGGihsa:57496
UCSCiuc002dcg.4 human [Q9ULH7-1]

Organism-specific databases

CTDi57496
DisGeNETi57496
EuPathDBiHostDB:ENSG00000186260.16
GeneCardsiMKL2
H-InvDBiHIX0012829
HGNCiHGNC:29819 MRTFB
HPAiHPA011286
MIMi609463 gene
neXtProtiNX_Q9ULH7
OpenTargetsiENSG00000186260
PharmGKBiPA134981329
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFJX Eukaryota
ENOG41101AM LUCA
GeneTreeiENSGT00530000063195
HOGENOMiHOG000038001
HOVERGENiHBG036493
InParanoidiQ9ULH7
KOiK22525
OMAiFAASTPC
OrthoDBiEOG091G01ZY
PhylomeDBiQ9ULH7
TreeFamiTF326024

Enzyme and pathway databases

SIGNORiQ9ULH7

Miscellaneous databases

ChiTaRSiMKL2 human
GeneWikiiMKL2
GenomeRNAii57496
PMAP-CutDBiQ9ULH7
PROiPR:Q9ULH7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000186260 Expressed in 230 organ(s), highest expression level in forebrain
CleanExiHS_MKL2
ExpressionAtlasiQ9ULH7 baseline and differential
GenevisibleiQ9ULH7 HS

Family and domain databases

Gene3Di1.10.720.30, 1 hit
InterProiView protein in InterPro
IPR004018 RPEL_repeat
IPR003034 SAP_dom
IPR036361 SAP_dom_sf
PfamiView protein in Pfam
PF02755 RPEL, 2 hits
PF02037 SAP, 1 hit
SMARTiView protein in SMART
SM00707 RPEL, 3 hits
SM00513 SAP, 1 hit
SUPFAMiSSF68906 SSF68906, 1 hit
PROSITEiView protein in PROSITE
PS51073 RPEL, 3 hits
PS50800 SAP, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMRTFB_HUMAN
AccessioniPrimary (citable) accession number: Q9ULH7
Secondary accession number(s): A6ND53
, B4DGT8, Q68CT1, Q6UB16, Q86WW2, Q8N226
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 27, 2003
Last sequence update: June 27, 2003
Last modified: November 7, 2018
This is version 155 of the entry and version 3 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 16
    Human chromosome 16: 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
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