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Protein

MARVEL domain-containing protein 3

Gene

MARVELD3

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

Functioni

As a component of tight junctions, plays a role in paracellular ion conductivity.1 Publication

GO - Molecular functioni

  • mitogen-activated protein kinase kinase kinase binding Source: MGI

GO - Biological processi

  • bicellular tight junction assembly Source: UniProtKB
  • cell-cell junction organization Source: MGI
  • negative regulation of epithelial cell migration Source: MGI
  • negative regulation of epithelial cell proliferation Source: MGI
  • negative regulation of JNK cascade Source: MGI
  • protein localization to cell junction Source: MGI
  • response to osmotic stress Source: MGI
Complete GO annotation...

Protein family/group databases

TCDBi1.A.64.6.1. the plasmolipin (plasmolipin) family.

Names & Taxonomyi

Protein namesi
Recommended name:
MARVEL domain-containing protein 3
Gene namesi
Name:MARVELD3
Synonyms:MRVLDC3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:30525. MARVELD3.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 226CytoplasmicSequence analysisAdd BLAST226
Transmembranei227 – 247HelicalSequence analysisAdd BLAST21
Topological domaini248 – 271ExtracellularSequence analysisAdd BLAST24
Transmembranei272 – 292HelicalSequence analysisAdd BLAST21
Topological domaini293 – 300CytoplasmicSequence analysis8
Transmembranei301 – 321HelicalSequence analysisAdd BLAST21
Topological domaini322 – 360ExtracellularSequence analysisAdd BLAST39
Transmembranei361 – 381HelicalSequence analysisAdd BLAST21
Topological domaini382 – 401CytoplasmicSequence analysisAdd BLAST20

GO - Cellular componenti

  • bicellular tight junction Source: BHF-UCL
  • cytoplasmic vesicle Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Membrane, Tight junction

Pathology & Biotechi

Organism-specific databases

DisGeNETi91862.
OpenTargetsiENSG00000140832.
PharmGKBiPA134986126.

Polymorphism and mutation databases

DMDMi209572737.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002715291 – 401MARVEL domain-containing protein 3Add BLAST401

Proteomic databases

EPDiQ96A59.
MaxQBiQ96A59.
PeptideAtlasiQ96A59.
PRIDEiQ96A59.

PTM databases

iPTMnetiQ96A59.
PhosphoSitePlusiQ96A59.

Expressioni

Gene expression databases

BgeeiENSG00000140832.
CleanExiHS_MARVELD3.
ExpressionAtlasiQ96A59. baseline and differential.
GenevisibleiQ96A59. HS.

Organism-specific databases

HPAiHPA043514.
HPA045471.

Interactioni

GO - Molecular functioni

  • mitogen-activated protein kinase kinase kinase binding Source: MGI

Structurei

3D structure databases

ProteinModelPortaliQ96A59.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini193 – 386MARVELPROSITE-ProRule annotationAdd BLAST194

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi8 – 120Arg-richAdd BLAST113
Compositional biasi129 – 170Pro-richAdd BLAST42

Sequence similaritiesi

Contains 1 MARVEL domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

GeneTreeiENSGT00390000006399.
HOGENOMiHOG000290685.
HOVERGENiHBG081950.
InParanoidiQ96A59.
OMAiGYCTGIG.
OrthoDBiEOG091G0FW7.
PhylomeDBiQ96A59.
TreeFamiTF332526.

Family and domain databases

InterProiIPR008253. Marvel.
[Graphical view]
PROSITEiPS51225. MARVEL. 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: Q96A59-1) [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
MEDPSGAREP RARPRERDPG RRPHPDQGRT HDRPRDRPGD PRRKRSSDGN
60 70 80 90 100
RRRDGDRDPE RDQERDGNRD RNRDRERERE RERDPDRGPR RDTHRDAGPR
110 120 130 140 150
AGEHGVWEKP RQSRTRDGAR GLTWDAAAPP GPAPWEAPEP PQPQRKGDPG
160 170 180 190 200
RRRPESEPPS ERYLPSTPRP GREEVEYYQS EAEGLLECHK CKYLCTGRAC
210 220 230 240 250
CQMLEVLLNL LILACSSVSY SSTGGYTGIT SLGGIYYYQF GGAYSGFDGA
260 270 280 290 300
DGEKAQQLDV QFYQLKLPMV TVAMACSGAL TALCCLFVAM GVLRVPWHCP
310 320 330 340 350
LLLVTEGLLD MLIAGGYIPA LYFYFHYLSA AYGSPVCKER QALYQSKGYS
360 370 380 390 400
GFGCSFHGAD IGAGIFAALG IVVFALGAVL AIKGYRKVRK LKEKPAEMFE

F
Length:401
Mass (Da):44,911
Last modified:October 14, 2008 - v3
Checksum:i2E90E20665A9EAD8
GO
Isoform 2 (identifier: Q96A59-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     199-401: ACCQMLEVLL...KEKPAEMFEF → GVVQIVEVVL...APEYLWSGTL

Note: No experimental confirmation available.Curated
Show »
Length:410
Mass (Da):45,972
Checksum:i010639810C3375B4
GO
Isoform 3 (identifier: Q96A59-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     102-148: GEHGVWEKPR...EPPQPQRKGD → VNPLRRDICP...TCALGEVWCR
     149-401: Missing.

Note: No experimental confirmation available.
Show »
Length:148
Mass (Da):17,704
Checksum:i9DC0FDC8F31C2D68
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 2 (identifier: Q96A59-2)
Sequence conflicti388Y → H in BAB71294 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02989360E → K.2 PublicationsCorresponds to variant rs4788821dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_047541102 – 148GEHGV…QRKGD → VNPLRRDICPRPPGLDERRW NITSQRRKDSWNATNANTCA LGEVWCR in isoform 3. 1 PublicationAdd BLAST47
Alternative sequenceiVSP_047542149 – 401Missing in isoform 3. 1 PublicationAdd BLAST253
Alternative sequenceiVSP_022322199 – 401ACCQM…EMFEF → GVVQIVEVVLNGMVLICIVA SYFVLAGFSASFSSGGGFGN NYYSPFEGTELEQVRQLDQQ YTILRSPLIYGGVAVSLGLG VLTMGVLLQGAKSRTMLSGK WLLTEAAFSLLAAVGYCTGI GVYLHVALQINSTDTCKTRE RLYARKGLTWMDCQLAGTDG AAATFACLLVIMYGASVVLA LRSYREQKRYKGSREQPGSY SDAPEYLWSGTL in isoform 2. 1 PublicationAdd BLAST203

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056842 mRNA. Translation: BAB71294.1.
AK292185 mRNA. Translation: BAF84874.1.
AK307585 mRNA. No translation available.
AC009097 Genomic DNA. No translation available.
BC011893 mRNA. Translation: AAH11893.1.
BC013376 mRNA. Translation: AAH13376.1.
CCDSiCCDS10904.1. [Q96A59-1]
CCDS32478.1. [Q96A59-2]
CCDS59270.1. [Q96A59-3]
RefSeqiNP_001017967.2. NM_001017967.3. [Q96A59-2]
NP_001258258.1. NM_001271329.1. [Q96A59-3]
NP_443090.4. NM_052858.5. [Q96A59-1]
UniGeneiHs.513706.

Genome annotation databases

EnsembliENST00000268485; ENSP00000268485; ENSG00000140832. [Q96A59-1]
ENST00000299952; ENSP00000299952; ENSG00000140832. [Q96A59-2]
ENST00000565261; ENSP00000455845; ENSG00000140832. [Q96A59-3]
GeneIDi91862.
KEGGihsa:91862.
UCSCiuc002fat.5. human. [Q96A59-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056842 mRNA. Translation: BAB71294.1.
AK292185 mRNA. Translation: BAF84874.1.
AK307585 mRNA. No translation available.
AC009097 Genomic DNA. No translation available.
BC011893 mRNA. Translation: AAH11893.1.
BC013376 mRNA. Translation: AAH13376.1.
CCDSiCCDS10904.1. [Q96A59-1]
CCDS32478.1. [Q96A59-2]
CCDS59270.1. [Q96A59-3]
RefSeqiNP_001017967.2. NM_001017967.3. [Q96A59-2]
NP_001258258.1. NM_001271329.1. [Q96A59-3]
NP_443090.4. NM_052858.5. [Q96A59-1]
UniGeneiHs.513706.

3D structure databases

ProteinModelPortaliQ96A59.
ModBaseiSearch...
MobiDBiSearch...

Protein family/group databases

TCDBi1.A.64.6.1. the plasmolipin (plasmolipin) family.

PTM databases

iPTMnetiQ96A59.
PhosphoSitePlusiQ96A59.

Polymorphism and mutation databases

DMDMi209572737.

Proteomic databases

EPDiQ96A59.
MaxQBiQ96A59.
PeptideAtlasiQ96A59.
PRIDEiQ96A59.

Protocols and materials databases

DNASUi91862.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000268485; ENSP00000268485; ENSG00000140832. [Q96A59-1]
ENST00000299952; ENSP00000299952; ENSG00000140832. [Q96A59-2]
ENST00000565261; ENSP00000455845; ENSG00000140832. [Q96A59-3]
GeneIDi91862.
KEGGihsa:91862.
UCSCiuc002fat.5. human. [Q96A59-1]

Organism-specific databases

CTDi91862.
DisGeNETi91862.
GeneCardsiMARVELD3.
HGNCiHGNC:30525. MARVELD3.
HPAiHPA043514.
HPA045471.
MIMi614094. gene.
neXtProtiNX_Q96A59.
OpenTargetsiENSG00000140832.
PharmGKBiPA134986126.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00390000006399.
HOGENOMiHOG000290685.
HOVERGENiHBG081950.
InParanoidiQ96A59.
OMAiGYCTGIG.
OrthoDBiEOG091G0FW7.
PhylomeDBiQ96A59.
TreeFamiTF332526.

Miscellaneous databases

GenomeRNAii91862.
PROiQ96A59.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000140832.
CleanExiHS_MARVELD3.
ExpressionAtlasiQ96A59. baseline and differential.
GenevisibleiQ96A59. HS.

Family and domain databases

InterProiIPR008253. Marvel.
[Graphical view]
PROSITEiPS51225. MARVEL. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMALD3_HUMAN
AccessioniPrimary (citable) accession number: Q96A59
Secondary accession number(s): A8K820, H3BQM5, Q96MJ4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: October 14, 2008
Last modified: November 2, 2016
This is version 106 of the entry and version 3 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 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
  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.