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P11230

- ACHB_HUMAN

UniProt

P11230 - ACHB_HUMAN

Protein

Acetylcholine receptor subunit beta

Gene

CHRNB1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 169 (01 Oct 2014)
      Sequence version 3 (11 Jul 2002)
      Previous versions | rss
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    Functioni

    After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.

    GO - Molecular functioni

    1. acetylcholine-activated cation-selective channel activity Source: Ensembl
    2. acetylcholine binding Source: UniProtKB
    3. channel activity Source: UniProtKB
    4. ligand-gated ion channel activity Source: UniProtKB

    GO - Biological processi

    1. behavioral response to nicotine Source: UniProtKB
    2. cation transport Source: UniProtKB
    3. ion transmembrane transport Source: GOC
    4. muscle contraction Source: UniProtKB
    5. muscle fiber development Source: UniProtKB
    6. neurological system process Source: UniProtKB
    7. neuromuscular synaptic transmission Source: UniProtKB
    8. postsynaptic membrane organization Source: UniProtKB
    9. regulation of membrane potential Source: UniProtKB
    10. signal transduction Source: UniProtKB
    11. synaptic transmission, cholinergic Source: UniProtKB
    12. transmembrane transport Source: GOC

    Keywords - Molecular functioni

    Ion channel, Ligand-gated ion channel, Receptor

    Keywords - Biological processi

    Ion transport, Transport

    Protein family/group databases

    TCDBi1.A.9.1.1. the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Acetylcholine receptor subunit beta
    Gene namesi
    Name:CHRNB1
    Synonyms:ACHRB, CHRNB
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:1961. CHRNB1.

    Subcellular locationi

    GO - Cellular componenti

    1. acetylcholine-gated channel complex Source: UniProtKB
    2. cell junction Source: UniProtKB-KW
    3. integral component of plasma membrane Source: UniProtKB
    4. postsynaptic membrane Source: UniProtKB-SubCell
    5. synapse Source: UniProtKB

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Membrane, Postsynaptic cell membrane, Synapse

    Pathology & Biotechi

    Involvement in diseasei

    Myasthenic syndrome, congenital, slow-channel (SCCMS) [MIM:601462]: A common congenital myasthenic syndrome. Congenital myasthenic syndromes are characterized by muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. Congenital myasthenic syndrome slow-channel type is caused by kinetic abnormalities of the AChR, resulting in prolonged endplate currents and prolonged AChR channel opening episodes.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti285 – 2851L → M in SCCMS. 1 Publication
    VAR_000287
    Natural varianti289 – 2891V → M in SCCMS. 1 Publication
    VAR_000288
    Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]: A post-synaptic congenital myasthenic syndrome. Congenital myasthenic syndromes (CMS) are inherited disorders of neuromuscular transmission that stem from mutations in presynaptic, synaptic, or postsynaptic proteins.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti449 – 4513Missing in CMS-ACHRD; impairs AChR assembly by disrupting a specific interaction between beta and delta subunits. 1 Publication
    VAR_017494

    Keywords - Diseasei

    Congenital myasthenic syndrome, Disease mutation

    Organism-specific databases

    MIMi601462. phenotype.
    608931. phenotype.
    Orphaneti98913. Postsynaptic congenital myasthenic syndromes.
    PharmGKBiPA26494.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2323Add
    BLAST
    Chaini24 – 501478Acetylcholine receptor subunit betaPRO_0000000315Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi151 ↔ 165By similarity
    Glycosylationi164 – 1641N-linked (GlcNAc...)Sequence Analysis
    Modified residuei390 – 3901Phosphotyrosine; by Tyr-kinasesBy similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    PaxDbiP11230.
    PRIDEiP11230.

    PTM databases

    PhosphoSiteiP11230.

    Expressioni

    Gene expression databases

    ArrayExpressiP11230.
    BgeeiP11230.
    CleanExiHS_CHRNB1.
    GenevestigatoriP11230.

    Organism-specific databases

    HPAiCAB011200.
    HPA005822.

    Interactioni

    Subunit structurei

    Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains.

    Protein-protein interaction databases

    BioGridi107562. 1 interaction.
    IntActiP11230. 1 interaction.
    MINTiMINT-3007602.
    STRINGi9606.ENSP00000304290.

    Structurei

    3D structure databases

    ProteinModelPortaliP11230.
    SMRiP11230. Positions 24-341, 431-500.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini24 – 244221ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini333 – 469137CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei245 – 26925HelicalSequence AnalysisAdd
    BLAST
    Transmembranei277 – 29519HelicalSequence AnalysisAdd
    BLAST
    Transmembranei311 – 33222HelicalSequence AnalysisAdd
    BLAST
    Transmembranei470 – 48819HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG243276.
    HOGENOMiHOG000006757.
    HOVERGENiHBG003756.
    InParanoidiP11230.
    KOiK04812.
    OMAiFIDGPNR.
    OrthoDBiEOG70ZZN7.
    PhylomeDBiP11230.
    TreeFamiTF315605.

    Family and domain databases

    Gene3Di1.20.120.370. 2 hits.
    2.70.170.10. 1 hit.
    InterProiIPR027361. Acetylcholine_rcpt_TM.
    IPR006202. Neur_chan_lig-bd.
    IPR006201. Neur_channel.
    IPR006029. Neurotrans-gated_channel_TM.
    IPR018000. Neurotransmitter_ion_chnl_CS.
    IPR002394. Nicotinic_acetylcholine_rcpt.
    [Graphical view]
    PANTHERiPTHR18945. PTHR18945. 1 hit.
    PfamiPF02931. Neur_chan_LBD. 1 hit.
    PF02932. Neur_chan_memb. 1 hit.
    [Graphical view]
    PRINTSiPR00254. NICOTINICR.
    PR00252. NRIONCHANNEL.
    SUPFAMiSSF63712. SSF63712. 1 hit.
    SSF90112. SSF90112. 1 hit.
    TIGRFAMsiTIGR00860. LIC. 1 hit.
    PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P11230-1) [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

    MTPGALLMLL GALGAPLAPG VRGSEAEGRL REKLFSGYDS SVRPAREVGD    50
    RVRVSVGLIL AQLISLNEKD EEMSTKVYLD LEWTDYRLSW DPAEHDGIDS 100
    LRITAESVWL PDVVLLNNND GNFDVALDIS VVVSSDGSVR WQPPGIYRSS 150
    CSIQVTYFPF DWQNCTMVFS SYSYDSSEVS LQTGLGPDGQ GHQEIHIHEG 200
    TFIENGQWEI IHKPSRLIQP PGDPRGGREG QRQEVIFYLI IRRKPLFYLV 250
    NVIAPCILIT LLAIFVFYLP PDAGEKMGLS IFALLTLTVF LLLLADKVPE 300
    TSLSVPIIIK YLMFTMVLVT FSVILSVVVL NLHHRSPHTH QMPLWVRQIF 350
    IHKLPLYLRL KRPKPERDLM PEPPHCSSPG SGWGRGTDEY FIRKPPSDFL 400
    FPKPNRFQPE LSAPDLRRFI DGPNRAVALL PELREVVSSI SYIARQLQEQ 450
    EDHDALKEDW QFVAMVVDRL FLWTFIIFTS VGTLVIFLDA TYHLPPPDPF 500
    P 501
    Length:501
    Mass (Da):56,698
    Last modified:July 11, 2002 - v3
    Checksum:i365CBFA795A51394
    GO
    Isoform 2 (identifier: P11230-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-72: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:429
    Mass (Da):49,083
    Checksum:iC0A42E7DC9C3A85B
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti15 – 151A → P in CAA32939. (PubMed:2740233)Curated
    Sequence conflicti210 – 2101I → N in CAA32939. (PubMed:2740233)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti32 – 321E → G.1 Publication
    Corresponds to variant rs17856697 [ dbSNP | Ensembl ].
    VAR_048169
    Natural varianti124 – 1241D → Y.1 Publication
    Corresponds to variant rs17856698 [ dbSNP | Ensembl ].
    VAR_070842
    Natural varianti285 – 2851L → M in SCCMS. 1 Publication
    VAR_000287
    Natural varianti289 – 2891V → M in SCCMS. 1 Publication
    VAR_000288
    Natural varianti449 – 4513Missing in CMS-ACHRD; impairs AChR assembly by disrupting a specific interaction between beta and delta subunits. 1 Publication
    VAR_017494

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 7272Missing in isoform 2. 1 PublicationVSP_056675Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X14830 mRNA. Translation: CAA32939.1.
    AK298938 mRNA. Translation: BAH12907.1.
    AC113189 Genomic DNA. No translation available.
    BC011371 mRNA. Translation: AAH11371.1.
    BC023553 mRNA. Translation: AAH23553.1.
    CCDSiCCDS11106.1.
    PIRiS04607.
    RefSeqiNP_000738.2. NM_000747.2.
    UniGeneiHs.330386.

    Genome annotation databases

    EnsembliENST00000306071; ENSP00000304290; ENSG00000170175.
    ENST00000536404; ENSP00000439209; ENSG00000170175.
    GeneIDi1140.
    KEGGihsa:1140.
    UCSCiuc002ghb.3. human.

    Polymorphism databases

    DMDMi21903373.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X14830 mRNA. Translation: CAA32939.1 .
    AK298938 mRNA. Translation: BAH12907.1 .
    AC113189 Genomic DNA. No translation available.
    BC011371 mRNA. Translation: AAH11371.1 .
    BC023553 mRNA. Translation: AAH23553.1 .
    CCDSi CCDS11106.1.
    PIRi S04607.
    RefSeqi NP_000738.2. NM_000747.2.
    UniGenei Hs.330386.

    3D structure databases

    ProteinModelPortali P11230.
    SMRi P11230. Positions 24-341, 431-500.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107562. 1 interaction.
    IntActi P11230. 1 interaction.
    MINTi MINT-3007602.
    STRINGi 9606.ENSP00000304290.

    Chemistry

    BindingDBi P11230.
    ChEMBLi CHEMBL2111384.
    DrugBanki DB00674. Galantamine.
    GuidetoPHARMACOLOGYi 471.

    Protein family/group databases

    TCDBi 1.A.9.1.1. the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.

    PTM databases

    PhosphoSitei P11230.

    Polymorphism databases

    DMDMi 21903373.

    Proteomic databases

    PaxDbi P11230.
    PRIDEi P11230.

    Protocols and materials databases

    DNASUi 1140.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000306071 ; ENSP00000304290 ; ENSG00000170175 .
    ENST00000536404 ; ENSP00000439209 ; ENSG00000170175 .
    GeneIDi 1140.
    KEGGi hsa:1140.
    UCSCi uc002ghb.3. human.

    Organism-specific databases

    CTDi 1140.
    GeneCardsi GC17P007348.
    GeneReviewsi CHRNB1.
    HGNCi HGNC:1961. CHRNB1.
    HPAi CAB011200.
    HPA005822.
    MIMi 100710. gene.
    601462. phenotype.
    608931. phenotype.
    neXtProti NX_P11230.
    Orphaneti 98913. Postsynaptic congenital myasthenic syndromes.
    PharmGKBi PA26494.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG243276.
    HOGENOMi HOG000006757.
    HOVERGENi HBG003756.
    InParanoidi P11230.
    KOi K04812.
    OMAi FIDGPNR.
    OrthoDBi EOG70ZZN7.
    PhylomeDBi P11230.
    TreeFami TF315605.

    Miscellaneous databases

    GeneWikii CHRNB1.
    GenomeRNAii 1140.
    NextBioi 4744.
    PROi P11230.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P11230.
    Bgeei P11230.
    CleanExi HS_CHRNB1.
    Genevestigatori P11230.

    Family and domain databases

    Gene3Di 1.20.120.370. 2 hits.
    2.70.170.10. 1 hit.
    InterProi IPR027361. Acetylcholine_rcpt_TM.
    IPR006202. Neur_chan_lig-bd.
    IPR006201. Neur_channel.
    IPR006029. Neurotrans-gated_channel_TM.
    IPR018000. Neurotransmitter_ion_chnl_CS.
    IPR002394. Nicotinic_acetylcholine_rcpt.
    [Graphical view ]
    PANTHERi PTHR18945. PTHR18945. 1 hit.
    Pfami PF02931. Neur_chan_LBD. 1 hit.
    PF02932. Neur_chan_memb. 1 hit.
    [Graphical view ]
    PRINTSi PR00254. NICOTINICR.
    PR00252. NRIONCHANNEL.
    SUPFAMi SSF63712. SSF63712. 1 hit.
    SSF90112. SSF90112. 1 hit.
    TIGRFAMsi TIGR00860. LIC. 1 hit.
    PROSITEi PS00236. NEUROTR_ION_CHANNEL. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Nucleotide sequence of human muscle acetylcholine receptor beta-subunit."
      Beeson D.M.W., Brydson M., Newsom-Davis J.
      Nucleic Acids Res. 17:4391-4391(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "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).
    3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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), VARIANTS GLY-32 AND TYR-124.
      Tissue: Eye and Muscle.
    5. "A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome."
      Gomez C.M., Maselli R., Gammack J., Lasalde J., Tamamizu S., Cornblath D.R., Lehar M., McNamee M., Kuncl R.W.
      Ann. Neurol. 39:712-723(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SCCMS MET-285.
    6. "New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome."
      Engel A.G., Ohno K., Milone M., Wang H.-L., Nakano S., Bouzat C., Pruitt J.N. II, Hutchinson D.O., Brengman J.M., Bren N., Sieb J.P., Sine S.M.
      Hum. Mol. Genet. 5:1217-1227(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SCCMS MET-289.
    7. "Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly."
      Quiram P.A., Ohno K., Milone M., Patterson M.C., Pruitt J.N. II, Brengman J.M., Sine S.M., Engel A.G.
      J. Clin. Invest. 104:1403-1410(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CMS-ACHRD 449-GLU--GLU-451 DEL, CHARACTERIZATION OF VARIANT CMS-ACHRD 449-GLU--GLU-451 DEL.

    Entry informationi

    Entry nameiACHB_HUMAN
    AccessioniPrimary (citable) accession number: P11230
    Secondary accession number(s): B7Z5H1, Q8IZ46, Q96FB8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 1, 1989
    Last sequence update: July 11, 2002
    Last modified: October 1, 2014
    This is version 169 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 17
      Human chromosome 17: 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