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Q8N4S9

- MALD2_HUMAN

UniProt

Q8N4S9 - MALD2_HUMAN

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Protein

MARVEL domain-containing protein 2

Gene
MARVELD2, TRIC
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Plays a role in the formation of the epithelial barriers. The separation of the endolymphatic and perilymphatic spaces of the organ of Corti from one another by epithelial barriers is required for normal hearing.1 Publication

GO - Molecular functioni

  1. protein binding Source: UniProt

GO - Biological processi

  1. cell-cell junction organization Source: MGI
  2. establishment of endothelial barrier Source: UniProt
  3. sensory perception of sound Source: MGI
  4. tight junction assembly Source: UniProt
Complete GO annotation...

Keywords - Biological processi

Hearing

Names & Taxonomyi

Protein namesi
Recommended name:
MARVEL domain-containing protein 2
Alternative name(s):
Tricellulin
Gene namesi
Synonyms:TRIC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:26401. MARVELD2.

Subcellular locationi

Cell membrane; Multi-pass membrane protein. Cell junctiontight junction By similarity
Note: Found at tricellular contacts By similarity.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 194194Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei195 – 21521Helical; Reviewed predictionAdd
BLAST
Topological domaini216 – 2238Extracellular Reviewed prediction
Transmembranei224 – 24421Helical; Reviewed predictionAdd
BLAST
Topological domaini245 – 25410Cytoplasmic Reviewed prediction
Transmembranei255 – 27521Helical; Reviewed predictionAdd
BLAST
Topological domaini276 – 29116Extracellular Reviewed predictionAdd
BLAST
Transmembranei292 – 31221Helical; Reviewed predictionAdd
BLAST
Topological domaini313 – 3197Cytoplasmic Reviewed prediction
Transmembranei320 – 33718Helical; Reviewed predictionAdd
BLAST
Topological domaini338 – 3414Extracellular Reviewed prediction
Transmembranei342 – 36221Helical; Reviewed predictionAdd
BLAST
Topological domaini363 – 558196Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. apical plasma membrane Source: UniProt
  2. basolateral plasma membrane Source: UniProt
  3. cytoplasm Source: UniProt
  4. cytoplasmic vesicle Source: UniProt
  5. integral component of membrane Source: UniProtKB-KW
  6. paranodal junction Source: Ensembl
  7. Schmidt-Lanterman incisure Source: Ensembl
  8. tight junction Source: UniProt
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Tight junction

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 49 (DFNB49) [MIM:610153]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Keywords - Diseasei

Deafness, Non-syndromic deafness

Organism-specific databases

MIMi610153. phenotype.
Orphaneti90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
PharmGKBiPA134954584.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 558558MARVEL domain-containing protein 2PRO_0000271526Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei116 – 1161Phosphoserine2 Publications
Modified residuei120 – 1201Phosphoserine2 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ8N4S9.
PaxDbiQ8N4S9.
PRIDEiQ8N4S9.

PTM databases

PhosphoSiteiQ8N4S9.

Expressioni

Gene expression databases

ArrayExpressiQ8N4S9.
BgeeiQ8N4S9.
CleanExiHS_MARVELD2.
GenevestigatoriQ8N4S9.

Organism-specific databases

HPAiHPA018119.

Interactioni

Protein-protein interaction databases

BioGridi127502. 2 interactions.
IntActiQ8N4S9. 1 interaction.
STRINGi9606.ENSP00000323264.

Structurei

3D structure databases

ProteinModelPortaliQ8N4S9.
SMRiQ8N4S9. Positions 441-548.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini188 – 367180MARVELAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili466 – 49025 Reviewed predictionAdd
BLAST
Coiled coili524 – 54825 Reviewed predictionAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi45 – 528Poly-Pro
Compositional biasi514 – 5174Poly-Lys

Sequence similaritiesi

Contains 1 MARVEL domain.

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG264085.
HOGENOMiHOG000155323.
HOVERGENiHBG079727.
InParanoidiQ8N4S9.
KOiK17291.
OMAiIHKDNEW.
PhylomeDBiQ8N4S9.
TreeFamiTF326161.

Family and domain databases

InterProiIPR008253. Marvel.
IPR010844. Occludin_RNApol2_elong_fac_ELL.
[Graphical view]
PfamiPF01284. MARVEL. 1 hit.
PF07303. Occludin_ELL. 1 hit.
[Graphical view]
PROSITEiPS51225. MARVEL. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8N4S9-1) [UniParc]FASTAAdd to Basket

Also known as: A, TRIC

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

MSNDGRSRNR DRRYDEVPSD LPYQDTTIRT HPTLHDSERA VSADPLPPPP    50
LPLQPPFGPD FYSSDTEEPA IAPDLKPVRR FVPDSWKNFF RGKKKDPEWD 100
KPVSDIRYIS DGVECSPPAS PARPNHRSPL NSCKDPYGGS EGTFSSRKEA 150
DAVFPRDPYG SLDRHTQTVR TYSEKVEEYN LRYSYMKSWA GLLRILGVVE 200
LLLGAGVFAC VTAYIHKDSE WYNLFGYSQP YGMGGVGGLG SMYGGYYYTG 250
PKTPFVLVVA GLAWITTIII LVLGMSMYYR TILLDSNWWP LTEFGINVAL 300
FILYMAAAIV YVNDTNRGGL CYYPLFNTPV NAVFCRVEGG QIAAMIFLFV 350
TMIVYLISAL VCLKLWRHEA ARRHREYMEQ QEINEPSLSS KRKMCEMATS 400
GDRQRDSEVN FKELRTAKMK PELLSGHIPP GHIPKPIVMP DYVAKYPVIQ 450
TDDERERYKA VFQDQFSEYK ELSAEVQAVL RKFDELDAVM SRLPHHSESR 500
QEHERISRIH EEFKKKKNDP TFLEKKERCD YLKNKLSHIK QRIQEYDKVM 550
NWDVQGYS 558
Length:558
Mass (Da):64,168
Last modified:January 11, 2011 - v2
Checksum:i04F3FCB2CFDB162B
GO
Isoform 2 (identifier: Q8N4S9-2) [UniParc]FASTAAdd to Basket

Also known as: TRICbeta

The sequence of this isoform differs from the canonical sequence as follows:
     431-457: GHIPKPIVMPDYVAKYPVIQTDDERER → RPANFFVFLVEMGFHRVSQDDLDLLTS
     458-558: Missing.

Show »
Length:457
Mass (Da):51,839
Checksum:iAC283BB19827AFFE
GO
Isoform 3 (identifier: Q8N4S9-3) [UniParc]FASTAAdd to Basket

Also known as: A1

The sequence of this isoform differs from the canonical sequence as follows:
     383-394: Missing.

Show »
Length:546
Mass (Da):62,796
Checksum:iF0BE767148439FCA
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti33 – 331T → I.5 Publications
Corresponds to variant rs1185246 [ dbSNP | Ensembl ].
VAR_047436

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei383 – 39412Missing in isoform 3. VSP_035760Add
BLAST
Alternative sequencei431 – 45727GHIPK…DERER → RPANFFVFLVEMGFHRVSQD DLDLLTS in isoform 2. VSP_022320Add
BLAST
Alternative sequencei458 – 558101Missing in isoform 2. VSP_022321Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti356 – 3561L → P in BAF85651. 1 Publication
Sequence conflicti435 – 4351K → R in BAF85651. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB219936 mRNA. Translation: BAE54513.1.
AB219937 mRNA. Translation: BAE54514.1.
DQ682656 mRNA. Translation: ABG89104.1.
DQ682657 mRNA. Translation: ABG89105.1.
AK055094 mRNA. Translation: BAB70853.1.
AK292962 mRNA. Translation: BAF85651.1.
AC145146 Genomic DNA. No translation available.
CH471137 Genomic DNA. Translation: EAW51277.1.
BC033689 mRNA. Translation: AAH33689.1.
CCDSiCCDS34175.1. [Q8N4S9-1]
CCDS58956.1. [Q8N4S9-3]
RefSeqiNP_001033692.2. NM_001038603.2. [Q8N4S9-1]
NP_001231663.1. NM_001244734.1. [Q8N4S9-3]
XP_005248502.1. XM_005248445.2. [Q8N4S9-1]
XP_005248503.1. XM_005248446.2. [Q8N4S9-1]
XP_005248504.1. XM_005248447.2. [Q8N4S9-3]
XP_005276814.1. XM_005276757.2.
XP_005276815.1. XM_005276758.1.
XP_005276817.1. XM_005276760.2.
UniGeneiHs.657687.

Genome annotation databases

EnsembliENST00000325631; ENSP00000323264; ENSG00000152939. [Q8N4S9-1]
ENST00000454295; ENSP00000396244; ENSG00000152939. [Q8N4S9-3]
ENST00000573599; ENSP00000460291; ENSG00000263043.
ENST00000576933; ENSP00000461265; ENSG00000263043.
GeneIDi153562.
KEGGihsa:153562.
UCSCiuc003jwq.3. human. [Q8N4S9-1]
uc010ixf.3. human. [Q8N4S9-3]

Polymorphism databases

DMDMi317373387.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB219936 mRNA. Translation: BAE54513.1 .
AB219937 mRNA. Translation: BAE54514.1 .
DQ682656 mRNA. Translation: ABG89104.1 .
DQ682657 mRNA. Translation: ABG89105.1 .
AK055094 mRNA. Translation: BAB70853.1 .
AK292962 mRNA. Translation: BAF85651.1 .
AC145146 Genomic DNA. No translation available.
CH471137 Genomic DNA. Translation: EAW51277.1 .
BC033689 mRNA. Translation: AAH33689.1 .
CCDSi CCDS34175.1. [Q8N4S9-1 ]
CCDS58956.1. [Q8N4S9-3 ]
RefSeqi NP_001033692.2. NM_001038603.2. [Q8N4S9-1 ]
NP_001231663.1. NM_001244734.1. [Q8N4S9-3 ]
XP_005248502.1. XM_005248445.2. [Q8N4S9-1 ]
XP_005248503.1. XM_005248446.2. [Q8N4S9-1 ]
XP_005248504.1. XM_005248447.2. [Q8N4S9-3 ]
XP_005276814.1. XM_005276757.2.
XP_005276815.1. XM_005276758.1.
XP_005276817.1. XM_005276760.2.
UniGenei Hs.657687.

3D structure databases

ProteinModelPortali Q8N4S9.
SMRi Q8N4S9. Positions 441-548.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 127502. 2 interactions.
IntActi Q8N4S9. 1 interaction.
STRINGi 9606.ENSP00000323264.

PTM databases

PhosphoSitei Q8N4S9.

Polymorphism databases

DMDMi 317373387.

Proteomic databases

MaxQBi Q8N4S9.
PaxDbi Q8N4S9.
PRIDEi Q8N4S9.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000325631 ; ENSP00000323264 ; ENSG00000152939 . [Q8N4S9-1 ]
ENST00000454295 ; ENSP00000396244 ; ENSG00000152939 . [Q8N4S9-3 ]
ENST00000573599 ; ENSP00000460291 ; ENSG00000263043 .
ENST00000576933 ; ENSP00000461265 ; ENSG00000263043 .
GeneIDi 153562.
KEGGi hsa:153562.
UCSCi uc003jwq.3. human. [Q8N4S9-1 ]
uc010ixf.3. human. [Q8N4S9-3 ]

Organism-specific databases

CTDi 153562.
GeneCardsi GC05P068746.
GeneReviewsi MARVELD2.
H-InvDB HIX0004923.
HGNCi HGNC:26401. MARVELD2.
HPAi HPA018119.
MIMi 610153. phenotype.
610572. gene.
neXtProti NX_Q8N4S9.
Orphaneti 90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
PharmGKBi PA134954584.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG264085.
HOGENOMi HOG000155323.
HOVERGENi HBG079727.
InParanoidi Q8N4S9.
KOi K17291.
OMAi IHKDNEW.
PhylomeDBi Q8N4S9.
TreeFami TF326161.

Miscellaneous databases

ChiTaRSi MARVELD2. human.
GeneWikii MARVELD2.
GenomeRNAii 153562.
NextBioi 87132.
PROi Q8N4S9.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8N4S9.
Bgeei Q8N4S9.
CleanExi HS_MARVELD2.
Genevestigatori Q8N4S9.

Family and domain databases

InterProi IPR008253. Marvel.
IPR010844. Occludin_RNApol2_elong_fac_ELL.
[Graphical view ]
Pfami PF01284. MARVEL. 1 hit.
PF07303. Occludin_ELL. 1 hit.
[Graphical view ]
PROSITEi PS51225. MARVEL. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Tricellulin constitutes a novel barrier at tricellular contacts of epithelial cells."
    Ikenouchi J., Furuse M., Furuse K., Sasaki H., Tsukita S., Tsukita S.
    J. Cell Biol. 171:939-945(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANT ILE-33.
  2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), INVOLVEMENT IN DFNB49, FUNCTION, VARIANT ILE-33.
    Tissue: Lung.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT ILE-33.
    Tissue: Brain and Trachea.
  4. "The DNA sequence and comparative analysis of human chromosome 5."
    Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
    , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
    Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ILE-33.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ILE-33.
    Tissue: Lung.
  7. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-116 AND SER-120, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-116 AND SER-120, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

Entry informationi

Entry nameiMALD2_HUMAN
AccessioniPrimary (citable) accession number: Q8N4S9
Secondary accession number(s): A1BQX0
, A1BQX1, A8KA97, Q96NM9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: January 11, 2011
Last modified: July 9, 2014
This is version 103 of the entry and version 2 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 5
    Human chromosome 5: 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

External Data

Dasty 3

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