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Q8N1M1

- BEST3_HUMAN

UniProt

Q8N1M1 - BEST3_HUMAN

Protein

Bestrophin-3

Gene

BEST3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
    • BLAST
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    • History
      Entry version 111 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
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    Functioni

    Forms calcium-sensitive chloride channels. Permeable to bicarbonate.1 Publication

    GO - Molecular functioni

    1. chloride channel activity Source: UniProtKB-KW

    GO - Biological processi

    1. negative regulation of ion transport Source: Ensembl

    Keywords - Molecular functioni

    Chloride channel, Ion channel

    Keywords - Biological processi

    Ion transport, Transport

    Keywords - Ligandi

    Calcium, Chloride

    Enzyme and pathway databases

    ReactomeiREACT_160189. Stimuli-sensing channels.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Bestrophin-3
    Alternative name(s):
    Vitelliform macular dystrophy 2-like protein 3
    Gene namesi
    Name:BEST3
    Synonyms:VMD2L3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:17105. BEST3.

    Subcellular locationi

    GO - Cellular componenti

    1. chloride channel complex Source: UniProtKB-KW
    2. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162377503.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 668668Bestrophin-3PRO_0000143121Add
    BLAST

    Proteomic databases

    PaxDbiQ8N1M1.
    PRIDEiQ8N1M1.

    PTM databases

    PhosphoSiteiQ8N1M1.

    Expressioni

    Tissue specificityi

    Present in skeletal muscle and weakly in brain, spinal cord, bone marrow and retina.1 Publication

    Gene expression databases

    ArrayExpressiQ8N1M1.
    BgeeiQ8N1M1.
    CleanExiHS_BEST3.
    GenevestigatoriQ8N1M1.

    Organism-specific databases

    HPAiHPA054582.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N1M1.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2525CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini47 – 7024ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini92 – 17887CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini200 – 22829ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini250 – 27021ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini292 – 668377CytoplasmicSequence AnalysisAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei229 – 24921Sequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei26 – 4621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei71 – 9121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei179 – 19921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei271 – 29121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the bestrophin family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG315004.
    HOGENOMiHOG000115678.
    HOVERGENiHBG080894.
    InParanoidiQ8N1M1.
    KOiK13880.
    OMAiKRFLSAH.
    OrthoDBiEOG7N0C43.
    PhylomeDBiQ8N1M1.
    TreeFamiTF315803.

    Family and domain databases

    InterProiIPR000615. Bestrophin.
    IPR021134. Bestrophin/UPF0187.
    [Graphical view]
    PANTHERiPTHR10736. PTHR10736. 1 hit.
    PfamiPF01062. Bestrophin. 1 hit.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 2 (identifier: Q8N1M1-2) [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

    MTVTYSSKVA NATFFGFHRL LLKWRGSIYK LLYREFIVFA VLYTAISLVY    50
    RLLLTGVQKR YFEKLSIYCD RYAEQIPVTF VLGFYVTLVV NRWWNQFVNL 100
    PWPDRLMFLI SSSVHGSDEH GRLLRRTLMR YVNLTSLLIF RSVSTAVYKR 150
    FPTMDHVVEA GFMTTDERKL FNHLKSPHLK YWVPFIWFGN LATKARNEGR 200
    IRDSVDLQSL MTEMNRYRSW CSLLFGYDWV GIPLVYTQVV TLAVYTFFFA 250
    CLIGRQFLDP TKGYAGHDLD LYIPIFTLLQ FFFYAGWLKV AEQLINPFGE 300
    DDDDFETNWC IDRNLQVSLL AVDEMHMSLP KMKKDIYWDD SAARPPYTLA 350
    AADYCIPSFL GSTVQMGLSG SDFPDEEWLW DYEKHGHRHS MIRRVKRFLS 400
    AHEHPSSPRR RSYRRQTSDS SMFLPRDDLS PARDLLDVPS RNPPRASPTW 450
    KKSCFPEGSP TLHFSMGELS TIRETSQTST LQSLTPQSSV RTSPIKMPLV 500
    PEVLITAAEA PVPTSGGYHH DSATSILSSE FTGVQPSKTE QQQGPMGSIL 550
    SPSEKETPPG GPSPQTVSAS AEENIFNCEE DPGDTFLKRW SLPGFLGSSH 600
    TSLGNLSPDP MSSQPALLID TETSSEISGI NIVAGSRVSS DMLYLMENLD 650
    TKETDIIELN KETEESPK 668
    Length:668
    Mass (Da):76,107
    Last modified:October 1, 2002 - v1
    Checksum:iFDCBD7154C402EA2
    GO
    Isoform 1 (identifier: Q8N1M1-1) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         368-398: LSGSDFPDEEWLWDYEKHGHRHSMIRRVKRF → KQMPKNEWKMEDIKIPLPQPQFQCAKSDPGG
         399-668: Missing.

    Show »
    Length:398
    Mass (Da):46,570
    Checksum:i045DD62330EADD26
    GO
    Isoform 4 (identifier: Q8N1M1-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-106: Missing.
         161-178: GFMTTDERKLFNHLKSPH → ERTGMKPILPSSFEMQSF
         179-668: Missing.

    Show »
    Length:72
    Mass (Da):8,307
    Checksum:iEFC600A37012F005
    GO
    Isoform 5 (identifier: Q8N1M1-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-162: Missing.
         239-289: Missing.

    Note: Gene prediction based on EST data.

    Show »
    Length:455
    Mass (Da):51,028
    Checksum:iD52A54DC672B1961
    GO
    Isoform 6 (identifier: Q8N1M1-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-106: Missing.

    Show »
    Length:562
    Mass (Da):63,378
    Checksum:i946A5A0AB6840485
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti43 – 431Y → H.
    Corresponds to variant rs1025016 [ dbSNP | Ensembl ].
    VAR_048409
    Natural varianti622 – 6221E → G.
    Corresponds to variant rs17106884 [ dbSNP | Ensembl ].
    VAR_048410

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 162162Missing in isoform 5. CuratedVSP_046979Add
    BLAST
    Alternative sequencei1 – 106106Missing in isoform 4 and isoform 6. 1 PublicationVSP_008981Add
    BLAST
    Alternative sequencei161 – 17818GFMTT…LKSPH → ERTGMKPILPSSFEMQSF in isoform 4. 1 PublicationVSP_008982Add
    BLAST
    Alternative sequencei179 – 668490Missing in isoform 4. 1 PublicationVSP_008983Add
    BLAST
    Alternative sequencei239 – 28951Missing in isoform 5. CuratedVSP_046980Add
    BLAST
    Alternative sequencei368 – 39831LSGSD…RVKRF → KQMPKNEWKMEDIKIPLPQP QFQCAKSDPGG in isoform 1. 2 PublicationsVSP_008977Add
    BLAST
    Alternative sequencei399 – 668270Missing in isoform 1. 2 PublicationsVSP_008978Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF440758 mRNA. Translation: AAM76997.1.
    AY515706 mRNA. Translation: AAR99656.1.
    AK096459 mRNA. Translation: BAC04797.1.
    AC016153 Genomic DNA. No translation available.
    AC018921 Genomic DNA. No translation available.
    AC025263 Genomic DNA. No translation available.
    BC151138 mRNA. No translation available.
    BC006440 mRNA. Translation: AAH06440.1.
    CCDSiCCDS41810.1. [Q8N1M1-5]
    CCDS61193.1. [Q8N1M1-1]
    CCDS8992.2. [Q8N1M1-2]
    RefSeqiNP_001269543.1. NM_001282614.1. [Q8N1M1-1]
    NP_001269544.1. NM_001282615.1. [Q8N1M1-4]
    NP_001269545.1. NM_001282616.1. [Q8N1M1-4]
    NP_116124.2. NM_032735.2. [Q8N1M1-2]
    NP_689652.2. NM_152439.3. [Q8N1M1-5]
    UniGeneiHs.280782.

    Genome annotation databases

    EnsembliENST00000266661; ENSP00000266661; ENSG00000127325. [Q8N1M1-4]
    ENST00000330891; ENSP00000332413; ENSG00000127325. [Q8N1M1-2]
    ENST00000331471; ENSP00000329064; ENSG00000127325. [Q8N1M1-1]
    ENST00000488961; ENSP00000433213; ENSG00000127325. [Q8N1M1-5]
    ENST00000551160; ENSP00000449377; ENSG00000127325. [Q8N1M1-4]
    ENST00000553096; ENSP00000449548; ENSG00000127325. [Q8N1M1-6]
    GeneIDi144453.
    KEGGihsa:144453.
    UCSCiuc001svd.2. human. [Q8N1M1-1]
    uc001svg.3. human. [Q8N1M1-2]

    Polymorphism databases

    DMDMi38503351.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF440758 mRNA. Translation: AAM76997.1 .
    AY515706 mRNA. Translation: AAR99656.1 .
    AK096459 mRNA. Translation: BAC04797.1 .
    AC016153 Genomic DNA. No translation available.
    AC018921 Genomic DNA. No translation available.
    AC025263 Genomic DNA. No translation available.
    BC151138 mRNA. No translation available.
    BC006440 mRNA. Translation: AAH06440.1 .
    CCDSi CCDS41810.1. [Q8N1M1-5 ]
    CCDS61193.1. [Q8N1M1-1 ]
    CCDS8992.2. [Q8N1M1-2 ]
    RefSeqi NP_001269543.1. NM_001282614.1. [Q8N1M1-1 ]
    NP_001269544.1. NM_001282615.1. [Q8N1M1-4 ]
    NP_001269545.1. NM_001282616.1. [Q8N1M1-4 ]
    NP_116124.2. NM_032735.2. [Q8N1M1-2 ]
    NP_689652.2. NM_152439.3. [Q8N1M1-5 ]
    UniGenei Hs.280782.

    3D structure databases

    ProteinModelPortali Q8N1M1.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q8N1M1.

    Polymorphism databases

    DMDMi 38503351.

    Proteomic databases

    PaxDbi Q8N1M1.
    PRIDEi Q8N1M1.

    Protocols and materials databases

    DNASUi 144453.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000266661 ; ENSP00000266661 ; ENSG00000127325 . [Q8N1M1-4 ]
    ENST00000330891 ; ENSP00000332413 ; ENSG00000127325 . [Q8N1M1-2 ]
    ENST00000331471 ; ENSP00000329064 ; ENSG00000127325 . [Q8N1M1-1 ]
    ENST00000488961 ; ENSP00000433213 ; ENSG00000127325 . [Q8N1M1-5 ]
    ENST00000551160 ; ENSP00000449377 ; ENSG00000127325 . [Q8N1M1-4 ]
    ENST00000553096 ; ENSP00000449548 ; ENSG00000127325 . [Q8N1M1-6 ]
    GeneIDi 144453.
    KEGGi hsa:144453.
    UCSCi uc001svd.2. human. [Q8N1M1-1 ]
    uc001svg.3. human. [Q8N1M1-2 ]

    Organism-specific databases

    CTDi 144453.
    GeneCardsi GC12M070037.
    H-InvDB HIX0010809.
    HGNCi HGNC:17105. BEST3.
    HPAi HPA054582.
    MIMi 607337. gene.
    neXtProti NX_Q8N1M1.
    PharmGKBi PA162377503.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG315004.
    HOGENOMi HOG000115678.
    HOVERGENi HBG080894.
    InParanoidi Q8N1M1.
    KOi K13880.
    OMAi KRFLSAH.
    OrthoDBi EOG7N0C43.
    PhylomeDBi Q8N1M1.
    TreeFami TF315803.

    Enzyme and pathway databases

    Reactomei REACT_160189. Stimuli-sensing channels.

    Miscellaneous databases

    GenomeRNAii 144453.
    NextBioi 84929.
    PROi Q8N1M1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8N1M1.
    Bgeei Q8N1M1.
    CleanExi HS_BEST3.
    Genevestigatori Q8N1M1.

    Family and domain databases

    InterProi IPR000615. Bestrophin.
    IPR021134. Bestrophin/UPF0187.
    [Graphical view ]
    PANTHERi PTHR10736. PTHR10736. 1 hit.
    Pfami PF01062. Bestrophin. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family."
      Stoehr H., Marquardt A., Nanda I., Schmid M., Weber B.H.F.
      Eur. J. Hum. Genet. 10:281-284(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    2. "Structure-function analysis of the bestrophin family of anion channels."
      Tsunenari T., Sun H., Williams J., Cahill H., Smallwood P., Yau K.-W., Nathans J.
      J. Biol. Chem. 278:41114-41125(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION.
    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] (ISOFORM 2).
      Tissue: Tongue.
    4. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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] (ISOFORMS 4 AND 6).
      Tissue: Lymph.

    Entry informationi

    Entry nameiBEST3_HUMAN
    AccessioniPrimary (citable) accession number: Q8N1M1
    Secondary accession number(s): B5MDI8
    , F8VVZ2, Q53YQ7, Q8N356, Q8NFT9, Q9BR80
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 21, 2003
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 111 of the entry and version 1 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 12
      Human chromosome 12: 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