UniProtKB - Q8N3F0 (MTURN_HUMAN)
Protein
Maturin
Gene
MTURN
Organism
Homo sapiens (Human)
Status
Functioni
Promotes megakaryocyte differentiation by enhancing ERK and JNK signaling as well as up-regulating RUNX1 and FLI1 expression (PubMed:24681962). Represses NF-kappa-B transcriptional activity by inhibiting phosphorylation of RELA at 'Ser-536' (PubMed:24681962). May be involved in early neuronal development (By similarity).By similarity1 Publication
GO - Biological processi
- multicellular organism development Source: UniProtKB-KW
- negative regulation of NF-kappaB transcription factor activity Source: UniProtKB
- positive regulation of ERK1 and ERK2 cascade Source: UniProtKB
- positive regulation of JNK cascade Source: UniProtKB
- positive regulation of megakaryocyte differentiation Source: UniProtKB
Keywordsi
Molecular function | Developmental protein |
Enzyme and pathway databases
PathwayCommonsi | Q8N3F0 |
Names & Taxonomyi
Protein namesi | Recommended name: MaturinAlternative name(s): Maturin neural progenitor differentiation regulator protein homolog Protein Ells1 |
Gene namesi | Name:MTURN Synonyms:C7orf41 |
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:25457, MTURN |
neXtProti | NX_Q8N3F0 |
VEuPathDBi | HostDB:ENSG00000180354.15 |
Subcellular locationi
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 34 | Y → F: Loss of abiity to promote megakaryocyte differentiation, enhance ERK and JNK signaling and up-regulate the expression of FLI1. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 222166 |
OpenTargetsi | ENSG00000180354 |
PharmGKBi | PA147358571 |
Miscellaneous databases
Pharosi | Q8N3F0, Tdark |
Genetic variation databases
BioMutai | MTURN |
DMDMi | 74714835 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000294233 | 1 – 131 | MaturinAdd BLAST | 131 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 34 | Phosphotyrosine1 Publication | 1 |
Post-translational modificationi
Phosphorylation at Tyr-34 is essential for its ability to promote megakaryocyte differentiation.1 Publication
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q8N3F0 |
MassIVEi | Q8N3F0 |
MaxQBi | Q8N3F0 |
PaxDbi | Q8N3F0 |
PeptideAtlasi | Q8N3F0 |
PRIDEi | Q8N3F0 |
ProteomicsDBi | 71795 [Q8N3F0-1] 71796 [Q8N3F0-2] 71797 [Q8N3F0-3] 7456 |
PTM databases
iPTMneti | Q8N3F0 |
PhosphoSitePlusi | Q8N3F0 |
Expressioni
Inductioni
Up-regulated by NF-kappa-B RELA/p65 (PubMed:24681962). Up-regulated during 12-O-tetradecanoyl phorbol-acetate (TPA)-induced megakaryocytic differentiation of K562 and HEL cells (PubMed:24681962).1 Publication
Gene expression databases
Bgeei | ENSG00000180354, Expressed in brain and 214 other tissues |
ExpressionAtlasi | Q8N3F0, baseline and differential |
Genevisiblei | Q8N3F0, HS |
Organism-specific databases
HPAi | ENSG00000180354, Tissue enriched (brain) |
Interactioni
Binary interactionsi
Hide detailsQ8N3F0
Protein-protein interaction databases
BioGRIDi | 128785, 24 interactors |
IntActi | Q8N3F0, 22 interactors |
STRINGi | 9606.ENSP00000324204 |
Miscellaneous databases
RNActi | Q8N3F0, protein |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 115 – 120 | Poly-Glu | 6 |
Sequence similaritiesi
Belongs to the MTURN family.Curated
Phylogenomic databases
eggNOGi | ENOG502RXQA, Eukaryota |
GeneTreei | ENSGT00500000045044 |
HOGENOMi | CLU_163056_0_0_1 |
InParanoidi | Q8N3F0 |
OMAi | EPGISFY |
OrthoDBi | 1571561at2759 |
PhylomeDBi | Q8N3F0 |
TreeFami | TF332814 |
Family and domain databases
InterProi | View protein in InterPro IPR027892, Maturin |
PANTHERi | PTHR32008, PTHR32008, 1 hit |
Pfami | View protein in Pfam PF15167, DUF4581, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q8N3F0-1) [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
MDFQQLADVA EKWCSNTPFE LIATEETERR MDFYADPGVS FYVLCPDNGC
60 70 80 90 100
GDNFHVWSES EDCLPFLQLA QDYISSCGKK TLHEVLEKVF KSFRPLLGLP
110 120 130
DADDDAFEEY SADVEEEEPE ADHPQMGVSQ Q
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketC9JBT1 | C9JBT1_HUMAN | Maturin | MTURN | 76 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 82 | L → P in BAC04811 (PubMed:14702039).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_026608 | 1 – 54 | MDFQQ…CGDNF → MATHCPLYCVGADLMMNRAG E in isoform 3. 1 PublicationAdd BLAST | 54 | |
Alternative sequenceiVSP_053525 | 55 – 95 | Missing in isoform 4. CuratedAdd BLAST | 41 | |
Alternative sequenceiVSP_026609 | 95 – 131 | PLLGL…GVSQQ → GLISAVHALPVETWLFFVLW QTGALEVVYV in isoform 2. 1 PublicationAdd BLAST | 37 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY054121 mRNA Translation: AAL14866.1 AK096533 mRNA Translation: BAC04811.1 AK098769 mRNA Translation: BAC05408.1 AL834391 mRNA Translation: CAD39053.2 AC007036 Genomic DNA No translation available. |
CCDSi | CCDS5425.2 [Q8N3F0-1] |
RefSeqi | NP_690006.2, NM_152793.2 [Q8N3F0-1] XP_005249709.1, XM_005249652.3 [Q8N3F0-1] |
Genome annotation databases
Ensembli | ENST00000324453; ENSP00000324204; ENSG00000180354 [Q8N3F0-1] ENST00000324489; ENSP00000324755; ENSG00000180354 [Q8N3F0-3] ENST00000409688; ENSP00000386490; ENSG00000180354 [Q8N3F0-4] |
GeneIDi | 222166 |
KEGGi | hsa:222166 |
UCSCi | uc003tar.2, human [Q8N3F0-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY054121 mRNA Translation: AAL14866.1 AK096533 mRNA Translation: BAC04811.1 AK098769 mRNA Translation: BAC05408.1 AL834391 mRNA Translation: CAD39053.2 AC007036 Genomic DNA No translation available. |
CCDSi | CCDS5425.2 [Q8N3F0-1] |
RefSeqi | NP_690006.2, NM_152793.2 [Q8N3F0-1] XP_005249709.1, XM_005249652.3 [Q8N3F0-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 128785, 24 interactors |
IntActi | Q8N3F0, 22 interactors |
STRINGi | 9606.ENSP00000324204 |
PTM databases
iPTMneti | Q8N3F0 |
PhosphoSitePlusi | Q8N3F0 |
Genetic variation databases
BioMutai | MTURN |
DMDMi | 74714835 |
Proteomic databases
EPDi | Q8N3F0 |
MassIVEi | Q8N3F0 |
MaxQBi | Q8N3F0 |
PaxDbi | Q8N3F0 |
PeptideAtlasi | Q8N3F0 |
PRIDEi | Q8N3F0 |
ProteomicsDBi | 71795 [Q8N3F0-1] 71796 [Q8N3F0-2] 71797 [Q8N3F0-3] 7456 |
Protocols and materials databases
Antibodypediai | 35235, 8 antibodies |
DNASUi | 222166 |
Genome annotation databases
Ensembli | ENST00000324453; ENSP00000324204; ENSG00000180354 [Q8N3F0-1] ENST00000324489; ENSP00000324755; ENSG00000180354 [Q8N3F0-3] ENST00000409688; ENSP00000386490; ENSG00000180354 [Q8N3F0-4] |
GeneIDi | 222166 |
KEGGi | hsa:222166 |
UCSCi | uc003tar.2, human [Q8N3F0-1] |
Organism-specific databases
CTDi | 222166 |
DisGeNETi | 222166 |
GeneCardsi | MTURN |
HGNCi | HGNC:25457, MTURN |
HPAi | ENSG00000180354, Tissue enriched (brain) |
neXtProti | NX_Q8N3F0 |
OpenTargetsi | ENSG00000180354 |
PharmGKBi | PA147358571 |
VEuPathDBi | HostDB:ENSG00000180354.15 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502RXQA, Eukaryota |
GeneTreei | ENSGT00500000045044 |
HOGENOMi | CLU_163056_0_0_1 |
InParanoidi | Q8N3F0 |
OMAi | EPGISFY |
OrthoDBi | 1571561at2759 |
PhylomeDBi | Q8N3F0 |
TreeFami | TF332814 |
Enzyme and pathway databases
PathwayCommonsi | Q8N3F0 |
Miscellaneous databases
BioGRID-ORCSi | 222166, 4 hits in 871 CRISPR screens |
ChiTaRSi | MTURN, human |
GenomeRNAii | 222166 |
Pharosi | Q8N3F0, Tdark |
PROi | PR:Q8N3F0 |
RNActi | Q8N3F0, protein |
Gene expression databases
Bgeei | ENSG00000180354, Expressed in brain and 214 other tissues |
ExpressionAtlasi | Q8N3F0, baseline and differential |
Genevisiblei | Q8N3F0, HS |
Family and domain databases
InterProi | View protein in InterPro IPR027892, Maturin |
PANTHERi | PTHR32008, PTHR32008, 1 hit |
Pfami | View protein in Pfam PF15167, DUF4581, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MTURN_HUMAN | |
Accessioni | Q8N3F0Primary (citable) accession number: Q8N3F0 Secondary accession number(s): B8ZZW9 Q8NEX2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 10, 2007 |
Last sequence update: | September 13, 2004 | |
Last modified: | February 10, 2021 | |
This is version 115 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 7
Human chromosome 7: entries, gene names and cross-references to MIM - SIMILARITY comments
Index of protein domains and families