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Q8N4S9

- MALD2_HUMAN

UniProt

Q8N4S9 - MALD2_HUMAN

Protein

MARVEL domain-containing protein 2

Gene

MARVELD2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 104 (01 Oct 2014)
      Sequence version 2 (11 Jan 2011)
      Previous versions | rss
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    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

    Keywords - Biological processi

    Hearing

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    MARVEL domain-containing protein 2
    Alternative name(s):
    Tricellulin
    Gene namesi
    Name:MARVELD2
    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

    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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 194194CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini216 – 2238ExtracellularSequence Analysis
    Topological domaini245 – 25410CytoplasmicSequence Analysis
    Topological domaini276 – 29116ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini313 – 3197CytoplasmicSequence Analysis
    Topological domaini338 – 3414ExtracellularSequence Analysis
    Topological domaini363 – 558196CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei195 – 21521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei224 – 24421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei255 – 27521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei292 – 31221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei320 – 33718HelicalSequence AnalysisAdd
    BLAST
    Transmembranei342 – 36221HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini188 – 367180MARVELPROSITE-ProRule annotationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili466 – 49025Sequence AnalysisAdd
    BLAST
    Coiled coili524 – 54825Sequence AnalysisAdd
    BLAST

    Compositional bias

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

    Sequence similaritiesi

    Contains 1 MARVEL domain.PROSITE-ProRule annotation

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti356 – 3561L → P in BAF85651. (PubMed:14702039)Curated
    Sequence conflicti435 – 4351K → R in BAF85651. (PubMed:14702039)Curated

    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. 1 PublicationVSP_035760Add
    BLAST
    Alternative sequencei431 – 45727GHIPK…DERER → RPANFFVFLVEMGFHRVSQD DLDLLTS in isoform 2. 2 PublicationsVSP_022320Add
    BLAST
    Alternative sequencei458 – 558101Missing in isoform 2. 2 PublicationsVSP_022321Add
    BLAST

    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]
    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 ]
    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

    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: October 1, 2014
    This is version 104 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