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Q8NDB2

- BANK1_HUMAN

UniProt

Q8NDB2 - BANK1_HUMAN

Protein

B-cell scaffold protein with ankyrin repeats

Gene

BANK1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 91 (01 Oct 2014)
      Sequence version 3 (05 Oct 2010)
      Previous versions | rss
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    Functioni

    Involved in B-cell receptor (BCR)-induced Ca2+ mobilization from intracellular stores. Promotes Lyn-mediated phosphorylation of IP3 receptors 1 and 2.1 Publication

    GO - Biological processi

    1. B cell activation Source: UniProtKB-KW

    Keywords - Biological processi

    B-cell activation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    B-cell scaffold protein with ankyrin repeats
    Gene namesi
    Name:BANK1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:18233. BANK1.

    Pathology & Biotechi

    Involvement in diseasei

    Systemic lupus erythematosus (SLE) [MIM:152700]: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti61 – 611R → H Influences susceptibility to SLE. 1 Publication
    Corresponds to variant rs10516487 [ dbSNP | Ensembl ].
    VAR_027729
    Natural varianti383 – 3831A → T Influences susceptibility to SLE. 2 Publications
    Corresponds to variant rs3733197 [ dbSNP | Ensembl ].
    VAR_027730

    Keywords - Diseasei

    Systemic lupus erythematosus

    Organism-specific databases

    MIMi152700. phenotype.
    Orphaneti536. Systemic lupus erythematosus.
    PharmGKBiPA128394677.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 785785B-cell scaffold protein with ankyrin repeatsPRO_0000251927Add
    BLAST

    Post-translational modificationi

    Phosphorylated on tyrosines upon BCR activation.1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ8NDB2.
    PaxDbiQ8NDB2.
    PRIDEiQ8NDB2.

    PTM databases

    PhosphoSiteiQ8NDB2.

    Expressioni

    Tissue specificityi

    Expressed in B-cell but not T-cell or myeloid cell lines. Highest expression in CD19+ B-cells, with very low expression in other cell populations.2 Publications

    Gene expression databases

    BgeeiQ8NDB2.
    CleanExiHS_BANK1.
    GenevestigatoriQ8NDB2.

    Organism-specific databases

    HPAiHPA037002.

    Interactioni

    Subunit structurei

    Interacts with LYN, ITPR1 and ITPR2.1 Publication

    Protein-protein interaction databases

    BioGridi120354. 3 interactions.
    IntActiQ8NDB2. 6 interactions.
    MINTiMINT-7899411.
    STRINGi9606.ENSP00000320509.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NDB2.
    SMRiQ8NDB2. Positions 341-400.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini200 – 327128DBBPROSITE-ProRule annotationAdd
    BLAST
    Repeati342 – 37130ANK 1Add
    BLAST
    Repeati378 – 40831ANK 2Add
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 154154Interaction with ITPR2Add
    BLAST

    Sequence similaritiesi

    Contains 2 ANK repeats.Curated
    Contains 1 DBB domain.PROSITE-ProRule annotation

    Keywords - Domaini

    ANK repeat, Repeat

    Phylogenomic databases

    eggNOGiNOG123833.
    HOVERGENiHBG080888.
    InParanoidiQ8NDB2.
    OMAiNVYCDGI.
    OrthoDBiEOG77DJ53.
    PhylomeDBiQ8NDB2.
    TreeFamiTF328570.

    Family and domain databases

    Gene3Di1.25.40.20. 1 hit.
    InterProiIPR020683. Ankyrin_rpt-contain_dom.
    IPR017893. DBB_domain.
    [Graphical view]
    PfamiPF14545. DBB. 1 hit.
    [Graphical view]
    SUPFAMiSSF48403. SSF48403. 1 hit.
    PROSITEiPS51376. DBB. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8NDB2-1) [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

    MLPAAPGKGL GSPDPAPCGP APPGNTKDII MIYEEDAEEW ALYLTEVFLH    50
    VVKREAILLY RLENFSFRHL ELLNLTSYKC KLLILSNSLL RDLTPKKCQF 100
    LEKILHSPKS VVTLLCGVKS SDQLYELLNI SQSRWEISTE QEPEDYISVI 150
    QSIIFKDSED YFEVNIPTDL RAKHSGEISE RKEIEELSEA SRNTIPLAVV 200
    LPTEIPCENP GEIFIILRDE VIGDTVEVEF TSSNKRIRTR PALWNKKVWC 250
    MKALEFPAGS VHVNVYCDGI VKATTKIKYY PTAKAKECLF RMADSGESLC 300
    QNSIEELDGV LTSIFKHEIP YYEFQSLQTE ICSQNKYTHF KELPTLLHCA 350
    AKFGLKNLAI HLLQCSGATW ASKMKNMEGS DPAHIAERHG HKELKKIFED 400
    FSIQEIDINN EQENDYEEDI ASFSTYIPST QNPAFHHESR KTYGQSADGA 450
    EANEMEGEGK QNGSGMETKH SPLEVGSESS EDQYDDLYVF IPGADPENNS 500
    QEPLMSSRPP LPPPRPVANA FQLERPHFTL PGTMVEGQME RSQNWGHPGV 550
    RQETGDEPKG EKEKKEEEKE QEEEEDPYTF AEIDDSEYDM ILANLSIKKK 600
    TGSRSFIINR PPAPTPRPTS IPPKEETTPY IAQVFQQKTA RRQSDDDKFC 650
    GLPKKQDRAR IESPAFSTLR GCLTDGQEEL ILLQEKVKNG KMSMDEALEK 700
    FKHWQMGKSG LEMIQQEKLR QLRDCIIGKR PEEENVYNKL TIVHHPGGKE 750
    TAHNENKFYN VHFSNKLPAR PQVEKEFGFC CKKDH 785
    Length:785
    Mass (Da):89,282
    Last modified:October 5, 2010 - v3
    Checksum:iA4A833E4A13FC6A6
    GO
    Isoform 2 (identifier: Q8NDB2-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-14: Missing.
         15-23: PAPCGPAPP → MVNCHLKI

    Note: No experimental confirmation available.

    Show »
    Length:770
    Mass (Da):88,141
    Checksum:i4A4B533F885A3C34
    GO
    Isoform 3 (identifier: Q8NDB2-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-30: Missing.

    Show »
    Length:755
    Mass (Da):86,460
    Checksum:i08ACB3617BC22FF0
    GO
    Isoform 4 (identifier: Q8NDB2-4) [UniParc]FASTAAdd to Basket

    Also known as: delta2

    The sequence of this isoform differs from the canonical sequence as follows:
         24-156: Missing.

    Show »
    Length:652
    Mass (Da):73,674
    Checksum:i5751DEA277FF9DCA
    GO

    Sequence cautioni

    The sequence BAA91337.1 differs from that shown. Reason: Frameshift at positions 571 and 681.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti143 – 1431P → L in BAA91337. (PubMed:14702039)Curated
    Sequence conflicti209 – 2091N → D in BAC03685. (PubMed:14702039)Curated
    Sequence conflicti303 – 3031S → R in BAF84822. (PubMed:14702039)Curated
    Sequence conflicti436 – 4361H → R in BAB79255. (PubMed:11782428)Curated
    Sequence conflicti557 – 5571E → D in BAA91337. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti61 – 611R → H Influences susceptibility to SLE. 1 Publication
    Corresponds to variant rs10516487 [ dbSNP | Ensembl ].
    VAR_027729
    Natural varianti383 – 3831A → T Influences susceptibility to SLE. 2 Publications
    Corresponds to variant rs3733197 [ dbSNP | Ensembl ].
    VAR_027730
    Natural varianti650 – 6501C → R.5 Publications
    Corresponds to variant rs3113676 [ dbSNP | Ensembl ].
    VAR_027731

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 3030Missing in isoform 3. 2 PublicationsVSP_020803Add
    BLAST
    Alternative sequencei1 – 1414Missing in isoform 2. 1 PublicationVSP_020804Add
    BLAST
    Alternative sequencei15 – 239PAPCGPAPP → MVNCHLKI in isoform 2. 1 PublicationVSP_020805
    Alternative sequencei24 – 156133Missing in isoform 4. 1 PublicationVSP_034214Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB063170 mRNA. Translation: BAB79255.1.
    EU051376 mRNA. Translation: ABW74340.1.
    AK000713 mRNA. Translation: BAA91337.1. Frameshift.
    AK091523 mRNA. Translation: BAC03685.1.
    AK292133 mRNA. Translation: BAF84822.1.
    AL834291 mRNA. Translation: CAD38965.2.
    AC093694 Genomic DNA. No translation available.
    AC095062 Genomic DNA. No translation available.
    AC109928 Genomic DNA. No translation available.
    AP002075 Genomic DNA. No translation available.
    BC032241 mRNA. Translation: AAH32241.2.
    CCDSiCCDS34038.1. [Q8NDB2-1]
    CCDS47115.1. [Q8NDB2-4]
    CCDS47116.1. [Q8NDB2-3]
    RefSeqiNP_001077376.2. NM_001083907.2.
    NP_001120979.2. NM_001127507.2.
    NP_060405.4. NM_017935.4.
    UniGeneiHs.480400.

    Genome annotation databases

    EnsembliENST00000322953; ENSP00000320509; ENSG00000153064. [Q8NDB2-1]
    ENST00000428908; ENSP00000412748; ENSG00000153064. [Q8NDB2-4]
    ENST00000444316; ENSP00000388817; ENSG00000153064. [Q8NDB2-3]
    ENST00000504592; ENSP00000421443; ENSG00000153064. [Q8NDB2-2]
    ENST00000508653; ENSP00000422314; ENSG00000153064. [Q8NDB2-4]
    GeneIDi55024.
    KEGGihsa:55024.
    UCSCiuc003hvx.4. human. [Q8NDB2-2]
    uc003hvy.4. human. [Q8NDB2-1]
    uc010ill.3. human. [Q8NDB2-4]

    Polymorphism databases

    DMDMi308153627.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB063170 mRNA. Translation: BAB79255.1 .
    EU051376 mRNA. Translation: ABW74340.1 .
    AK000713 mRNA. Translation: BAA91337.1 . Frameshift.
    AK091523 mRNA. Translation: BAC03685.1 .
    AK292133 mRNA. Translation: BAF84822.1 .
    AL834291 mRNA. Translation: CAD38965.2 .
    AC093694 Genomic DNA. No translation available.
    AC095062 Genomic DNA. No translation available.
    AC109928 Genomic DNA. No translation available.
    AP002075 Genomic DNA. No translation available.
    BC032241 mRNA. Translation: AAH32241.2 .
    CCDSi CCDS34038.1. [Q8NDB2-1 ]
    CCDS47115.1. [Q8NDB2-4 ]
    CCDS47116.1. [Q8NDB2-3 ]
    RefSeqi NP_001077376.2. NM_001083907.2.
    NP_001120979.2. NM_001127507.2.
    NP_060405.4. NM_017935.4.
    UniGenei Hs.480400.

    3D structure databases

    ProteinModelPortali Q8NDB2.
    SMRi Q8NDB2. Positions 341-400.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120354. 3 interactions.
    IntActi Q8NDB2. 6 interactions.
    MINTi MINT-7899411.
    STRINGi 9606.ENSP00000320509.

    PTM databases

    PhosphoSitei Q8NDB2.

    Polymorphism databases

    DMDMi 308153627.

    Proteomic databases

    MaxQBi Q8NDB2.
    PaxDbi Q8NDB2.
    PRIDEi Q8NDB2.

    Protocols and materials databases

    DNASUi 55024.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000322953 ; ENSP00000320509 ; ENSG00000153064 . [Q8NDB2-1 ]
    ENST00000428908 ; ENSP00000412748 ; ENSG00000153064 . [Q8NDB2-4 ]
    ENST00000444316 ; ENSP00000388817 ; ENSG00000153064 . [Q8NDB2-3 ]
    ENST00000504592 ; ENSP00000421443 ; ENSG00000153064 . [Q8NDB2-2 ]
    ENST00000508653 ; ENSP00000422314 ; ENSG00000153064 . [Q8NDB2-4 ]
    GeneIDi 55024.
    KEGGi hsa:55024.
    UCSCi uc003hvx.4. human. [Q8NDB2-2 ]
    uc003hvy.4. human. [Q8NDB2-1 ]
    uc010ill.3. human. [Q8NDB2-4 ]

    Organism-specific databases

    CTDi 55024.
    GeneCardsi GC04P102332.
    HGNCi HGNC:18233. BANK1.
    HPAi HPA037002.
    MIMi 152700. phenotype.
    610292. gene.
    neXtProti NX_Q8NDB2.
    Orphaneti 536. Systemic lupus erythematosus.
    PharmGKBi PA128394677.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG123833.
    HOVERGENi HBG080888.
    InParanoidi Q8NDB2.
    OMAi NVYCDGI.
    OrthoDBi EOG77DJ53.
    PhylomeDBi Q8NDB2.
    TreeFami TF328570.

    Miscellaneous databases

    ChiTaRSi BANK1. human.
    GenomeRNAii 55024.
    NextBioi 58410.
    PROi Q8NDB2.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8NDB2.
    CleanExi HS_BANK1.
    Genevestigatori Q8NDB2.

    Family and domain databases

    Gene3Di 1.25.40.20. 1 hit.
    InterProi IPR020683. Ankyrin_rpt-contain_dom.
    IPR017893. DBB_domain.
    [Graphical view ]
    Pfami PF14545. DBB. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48403. SSF48403. 1 hit.
    PROSITEi PS51376. DBB. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "BANK regulates BCR-induced calcium mobilization by promoting tyrosine phosphorylation of IP3 receptor."
      Yokoyama K., Su I., Tezuka T., Yasuda T., Mikoshiba K., Tarakhovsky A., Yamamoto T.
      EMBO J. 21:83-92(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY, PHOSPHORYLATION, INTERACTION WITH LYN; ITPR1 AND ITPR2, FUNCTION, VARIANT ARG-650.
      Tissue: B-cell.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), TISSUE SPECIFICITY, VARIANTS HIS-61; THR-383 AND ARG-650.
    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; 2 AND 3), VARIANTS THR-383 AND ARG-650.
      Tissue: Brain, Ileal mucosa and Synovium.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ARG-650.
      Tissue: Lymph node.
    5. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      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 ARG-650.
      Tissue: Blood.

    Entry informationi

    Entry nameiBANK1_HUMAN
    AccessioniPrimary (citable) accession number: Q8NDB2
    Secondary accession number(s): A8K7W8
    , B0F3S2, Q8N5K8, Q8NB56, Q8WYN5, Q9NWP2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 3, 2006
    Last sequence update: October 5, 2010
    Last modified: October 1, 2014
    This is version 91 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 4
      Human chromosome 4: 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