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Q8N4S9 (MALD2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 100. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
MARVEL domain-containing protein 2
Alternative name(s):
Tricellulin
Gene names
Name:MARVELD2
Synonyms:TRIC
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length558 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.2

Subcellular location

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

Involvement in disease

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. Ref.2

Sequence similarities

Contains 1 MARVEL domain.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8N4S9-1)

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.
Isoform 2 (identifier: Q8N4S9-2)

Also known as: TRICbeta;

The sequence of this isoform differs from the canonical sequence as follows:
     431-457: GHIPKPIVMPDYVAKYPVIQTDDERER → RPANFFVFLVEMGFHRVSQDDLDLLTS
     458-558: Missing.
Isoform 3 (identifier: Q8N4S9-3)

Also known as: A1;

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 558558MARVEL domain-containing protein 2
PRO_0000271526

Regions

Topological domain1 – 194194Cytoplasmic Potential
Transmembrane195 – 21521Helical; Potential
Topological domain216 – 2238Extracellular Potential
Transmembrane224 – 24421Helical; Potential
Topological domain245 – 25410Cytoplasmic Potential
Transmembrane255 – 27521Helical; Potential
Topological domain276 – 29116Extracellular Potential
Transmembrane292 – 31221Helical; Potential
Topological domain313 – 3197Cytoplasmic Potential
Transmembrane320 – 33718Helical; Potential
Topological domain338 – 3414Extracellular Potential
Transmembrane342 – 36221Helical; Potential
Topological domain363 – 558196Cytoplasmic Potential
Domain188 – 367180MARVEL
Coiled coil466 – 49025 Potential
Coiled coil524 – 54825 Potential
Compositional bias45 – 528Poly-Pro
Compositional bias514 – 5174Poly-Lys

Amino acid modifications

Modified residue1161Phosphoserine Ref.7 Ref.9
Modified residue1201Phosphoserine Ref.7 Ref.9

Natural variations

Alternative sequence383 – 39412Missing in isoform 3.
VSP_035760
Alternative sequence431 – 45727GHIPK…DERER → RPANFFVFLVEMGFHRVSQD DLDLLTS in isoform 2.
VSP_022320
Alternative sequence458 – 558101Missing in isoform 2.
VSP_022321
Natural variant331T → I. Ref.1 Ref.2 Ref.3 Ref.4 Ref.6
Corresponds to variant rs1185246 [ dbSNP | Ensembl ].
VAR_047436

Experimental info

Sequence conflict3561L → P in BAF85651. Ref.3
Sequence conflict4351K → R in BAF85651. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (A) (TRIC) [UniParc].

Last modified January 11, 2011. Version 2.
Checksum: 04F3FCB2CFDB162B

FASTA55864,168
        10         20         30         40         50         60 
MSNDGRSRNR DRRYDEVPSD LPYQDTTIRT HPTLHDSERA VSADPLPPPP LPLQPPFGPD 

        70         80         90        100        110        120 
FYSSDTEEPA IAPDLKPVRR FVPDSWKNFF RGKKKDPEWD KPVSDIRYIS DGVECSPPAS 

       130        140        150        160        170        180 
PARPNHRSPL NSCKDPYGGS EGTFSSRKEA DAVFPRDPYG SLDRHTQTVR TYSEKVEEYN 

       190        200        210        220        230        240 
LRYSYMKSWA GLLRILGVVE LLLGAGVFAC VTAYIHKDSE WYNLFGYSQP YGMGGVGGLG 

       250        260        270        280        290        300 
SMYGGYYYTG PKTPFVLVVA GLAWITTIII LVLGMSMYYR TILLDSNWWP LTEFGINVAL 

       310        320        330        340        350        360 
FILYMAAAIV YVNDTNRGGL CYYPLFNTPV NAVFCRVEGG QIAAMIFLFV TMIVYLISAL 

       370        380        390        400        410        420 
VCLKLWRHEA ARRHREYMEQ QEINEPSLSS KRKMCEMATS GDRQRDSEVN FKELRTAKMK 

       430        440        450        460        470        480 
PELLSGHIPP GHIPKPIVMP DYVAKYPVIQ TDDERERYKA VFQDQFSEYK ELSAEVQAVL 

       490        500        510        520        530        540 
RKFDELDAVM SRLPHHSESR QEHERISRIH EEFKKKKNDP TFLEKKERCD YLKNKLSHIK 

       550 
QRIQEYDKVM NWDVQGYS 

« Hide

Isoform 2 (TRICbeta) [UniParc].

Checksum: AC283BB19827AFFE
Show »

FASTA45751,839
Isoform 3 (A1) [UniParc].

Checksum: F0BE767148439FCA
Show »

FASTA54662,796

References

« Hide 'large scale' references
[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]"Tricellulin is a tight-junction protein necessary for hearing."
Riazuddin S., Ahmed Z.M., Fanning A.S., Lagziel A., Kitajiri S., Ramzan K., Khan S.N., Chattaraj P., Friedman P.L., Anderson J.M., Belyantseva I.A., Forge A., Riazuddin S., Friedman T.B.
Am. J. Hum. Genet. 79:1040-1051(2006) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001033692.2. NM_001038603.2.
NP_001231663.1. NM_001244734.1.
XP_005248502.1. XM_005248445.2.
XP_005248503.1. XM_005248446.2.
XP_005248504.1. XM_005248447.2.
XP_005276814.1. XM_005276757.2.
XP_005276815.1. XM_005276758.1.
XP_005276817.1. XM_005276760.2.
UniGeneHs.657687.

3D structure databases

ProteinModelPortalQ8N4S9.
SMRQ8N4S9. Positions 441-548.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127502. 2 interactions.
IntActQ8N4S9. 1 interaction.
STRING9606.ENSP00000323264.

PTM databases

PhosphoSiteQ8N4S9.

Polymorphism databases

DMDM317373387.

Proteomic databases

PaxDbQ8N4S9.
PRIDEQ8N4S9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000325631; ENSP00000323264; ENSG00000152939. [Q8N4S9-1]
ENST00000454295; ENSP00000396244; ENSG00000152939. [Q8N4S9-3]
ENST00000573599; ENSP00000460291; ENSG00000263043.
ENST00000576933; ENSP00000461265; ENSG00000263043.
GeneID153562.
KEGGhsa:153562.
UCSCuc003jwq.3. human. [Q8N4S9-1]
uc010ixf.3. human. [Q8N4S9-3]

Organism-specific databases

CTD153562.
GeneCardsGC05P068746.
H-InvDBHIX0004923.
HGNCHGNC:26401. MARVELD2.
HPAHPA018119.
MIM610153. phenotype.
610572. gene.
neXtProtNX_Q8N4S9.
Orphanet90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
PharmGKBPA134954584.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG264085.
HOGENOMHOG000155323.
HOVERGENHBG079727.
InParanoidQ8N4S9.
KOK17291.
OMAIHKDNEW.
PhylomeDBQ8N4S9.
TreeFamTF326161.

Gene expression databases

ArrayExpressQ8N4S9.
BgeeQ8N4S9.
CleanExHS_MARVELD2.
GenevestigatorQ8N4S9.

Family and domain databases

InterProIPR008253. Marvel.
IPR010844. Occludin_RNApol2_elong_fac_ELL.
[Graphical view]
PfamPF01284. MARVEL. 1 hit.
PF07303. Occludin_ELL. 1 hit.
[Graphical view]
PROSITEPS51225. MARVEL. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSMARVELD2. human.
GeneWikiMARVELD2.
GenomeRNAi153562.
NextBio87132.
PROQ8N4S9.
SOURCESearch...

Entry information

Entry nameMALD2_HUMAN
AccessionPrimary (citable) accession number: Q8N4S9
Secondary accession number(s): A1BQX0 expand/collapse secondary AC list , A1BQX1, A8KA97, Q96NM9
Entry history
Integrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: January 11, 2011
Last modified: April 16, 2014
This is version 100 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM