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Q8WXR4

- MYO3B_HUMAN

UniProt

Q8WXR4 - MYO3B_HUMAN

Protein

Myosin-IIIb

Gene

MYO3B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 119 (01 Oct 2014)
      Sequence version 4 (18 May 2010)
      Previous versions | rss
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    Functioni

    Probable actin-based motor with a protein kinase activity.

    Catalytic activityi

    ATP + a protein = ADP + a phosphoprotein.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei56 – 561ATPPROSITE-ProRule annotation
    Active sitei156 – 1561Proton acceptorPROSITE-ProRule annotation

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi33 – 419ATPPROSITE-ProRule annotation

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. microfilament motor activity Source: Ensembl
    3. protein serine/threonine kinase activity Source: UniProtKB-KW

    GO - Biological processi

    1. peptidyl-serine phosphorylation Source: Ensembl
    2. peptidyl-threonine phosphorylation Source: Ensembl
    3. positive regulation of filopodium assembly Source: Ensembl
    4. protein autophosphorylation Source: Ensembl
    5. response to stimulus Source: UniProtKB-KW
    6. visual perception Source: UniProtKB-KW

    Keywords - Molecular functioni

    Kinase, Motor protein, Myosin, Serine/threonine-protein kinase, Transferase

    Keywords - Biological processi

    Sensory transduction, Vision

    Keywords - Ligandi

    Actin-binding, ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    SignaLinkiQ8WXR4.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Myosin-IIIb (EC:2.7.11.1)
    Gene namesi
    Name:MYO3B
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:15576. MYO3B.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-KW
    2. filopodium tip Source: Ensembl
    3. myosin complex Source: UniProtKB-KW
    4. photoreceptor inner segment Source: Ensembl
    5. photoreceptor outer segment Source: Ensembl
    6. stereocilium bundle tip Source: Ensembl

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA31406.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 13411341Myosin-IIIbPRO_0000086415Add
    BLAST

    Proteomic databases

    PaxDbiQ8WXR4.
    PRIDEiQ8WXR4.

    PTM databases

    PhosphoSiteiQ8WXR4.

    Expressioni

    Tissue specificityi

    Expressed in retina, kidney and testis.

    Gene expression databases

    ArrayExpressiQ8WXR4.
    BgeeiQ8WXR4.
    GenevestigatoriQ8WXR4.

    Interactioni

    Protein-protein interaction databases

    BioGridi126621. 4 interactions.
    IntActiQ8WXR4. 4 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8WXR4.
    SMRiQ8WXR4. Positions 15-327, 347-1046, 1073-1129.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini27 – 293267Protein kinasePROSITE-ProRule annotationAdd
    BLAST
    Domaini343 – 1058716Myosin motorAdd
    BLAST
    Domaini1060 – 108930IQ 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini1087 – 111630IQ 2PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    In the C-terminal section; belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.Curated
    In the N-terminal section; belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family.Curated
    Contains 2 IQ domains.PROSITE-ProRule annotation
    Contains 1 myosin motor domain.Curated
    Contains 1 protein kinase domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiCOG0515.
    HOVERGENiHBG052555.
    InParanoidiQ8WXR4.
    KOiK08834.
    OMAiHWVLGKT.
    OrthoDBiEOG7SJD3P.
    PhylomeDBiQ8WXR4.
    TreeFamiTF326512.

    Family and domain databases

    InterProiIPR000048. IQ_motif_EF-hand-BS.
    IPR011009. Kinase-like_dom.
    IPR001609. Myosin_head_motor_dom.
    IPR027417. P-loop_NTPase.
    IPR000719. Prot_kinase_dom.
    IPR017441. Protein_kinase_ATP_BS.
    IPR002290. Ser/Thr_dual-sp_kinase_dom.
    IPR008271. Ser/Thr_kinase_AS.
    [Graphical view]
    PfamiPF00612. IQ. 1 hit.
    PF00063. Myosin_head. 1 hit.
    PF00069. Pkinase. 1 hit.
    [Graphical view]
    PRINTSiPR00193. MYOSINHEAVY.
    SMARTiSM00015. IQ. 2 hits.
    SM00242. MYSc. 1 hit.
    SM00220. S_TKc. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 2 hits.
    SSF56112. SSF56112. 1 hit.
    PROSITEiPS50096. IQ. 2 hits.
    PS51456. MYOSIN_MOTOR. 1 hit.
    PS00107. PROTEIN_KINASE_ATP. 1 hit.
    PS50011. PROTEIN_KINASE_DOM. 1 hit.
    PS00108. PROTEIN_KINASE_ST. 1 hit.
    [Graphical view]

    Sequences (7)i

    Sequence statusi: Complete.

    This entry describes 7 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8WXR4-1) [UniParc]FASTAAdd to Basket

    Also known as: MYO3B.2

    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

    MKHLYGLFHY NPMMLGLESL PDPTDTWEII ETIGKGTYGK VYKVTNKRDG     50
    SLAAVKILDP VSDMDEEIEA EYNILQFLPN HPNVVKFYGM FYKADHCVGG 100
    QLWLVLELCN GGSVTELVKG LLRCGQRLDE AMISYILYGA LLGLQHLHNN 150
    RIIHRDVKGN NILLTTEGGV KLVDFGVSAQ LTSTRLRRNT SVGTPFWMAP 200
    EVIACEQQYD SSYDARCDVW SLGITAIELG DGDPPLFDMH PVKTLFKIPR 250
    NPPPTLLHPE KWCEEFNHFI SQCLIKDFER RPSVTHLLDH PFIKGVHGKV 300
    LFLQKQLAKV LQDQKHQNPV AKTRHERMHT RRPYHVEDAE KYCLEDDLVN 350
    LEVLDEDTII HQLQKRYADL LIYTYVGDIL IALNPFQNLS IYSPQFSRLY 400
    HGVKRASNPP HIFASADAAY QCMVTLSKDQ CIVISGESGS GKTESAHLIV 450
    QHLTFLGKAN NQTLREKILQ VNSLVEAFGN SCTAINDNSS RFGKYLEMMF 500
    TPTGVVMGAR ISEYLLEKSR VIKQAAREKN FHIFYYIYAG LHHQKKLSDF 550
    RLPEEKPPRY IADETGRVMH DITSKESYRR QFEAIQHCFR IIGFTDKEVH 600
    SVYRILAGIL NIGNIEFAAI SSQHQTDKSE VPNAEALQNA ASVLCISPEE 650
    LQEALTSHCV VTRGETIIRA NTVDRAADVR DAMSKALYGR LFSWIVNRIN 700
    TLLQPDENIC SAGGGMNVGI LDIFGFENFQ RNSFEQLCIN IANEQIQYYF 750
    NQHVFALEQM EYQNEGIDAV PVEYEDNRPL LDMFLQKPLG LLALLDEESR 800
    FPQATDQTLV DKFEDNLRCK YFWRPKGVEL CFGIQHYAGK VLYDASGVLE 850
    KNRDTLPADV VVVLRTSENK LLQQLFSIPL TKTGNLAQTR ARITVASSSL 900
    PPHFSAGKAK VDTLEVIRHP EETTNMKRQT VASYFRYSLM DLLSKMVVGQ 950
    PHFVRCIKPN DDREALQFSR ERVLAQLRST GILETVSIRR QGYSHRILFE 1000
    EFVKRYYYLA FTAHQTPLAS KESCVAILEK SRLDHWVLGK TKVFLKYYHV 1050
    EQLNLLLREV IGRVVVLQAY TKGWLGARRY KRVREKREKG AIAIQSAWRG 1100
    YDARRKFKKI SNRRNESAAH NQAGDTSNQS SGPHSPVAAG TRGSAEVQDC 1150
    SEPGDHKVLR GSVHRRSHSQ AESNNGRTQT SSNSPAVTEK NGHSQAQSSP 1200
    KGCDIFAGHA NKHSVSGTDL LSSRICHPAP DQQGLSLWGA PQKPGSENGL 1250
    AQKHRTPRRR CQQPKMLSSP EDTMYYNQLN GTLEYQGSKR KPRKLGQIKV 1300
    LDGEDEYYKS LSPVDCIPEE NNSAHPSFFS SSSKGDSFAQ H 1341
    Length:1,341
    Mass (Da):151,829
    Last modified:May 18, 2010 - v4
    Checksum:i76F84C571DAA269D
    GO
    Isoform 2 (identifier: Q8WXR4-2) [UniParc]FASTAAdd to Basket

    Also known as: MYO3B.0

    The sequence of this isoform differs from the canonical sequence as follows:
         1245-1341: GSENGLAQKH...SSKGDSFAQH → AFPHYGCNFYGFRKWSCTEASNTSPTMSAAQNAE

    Show »
    Length:1,278
    Mass (Da):144,595
    Checksum:i08890776C830E4A2
    GO
    Isoform 3 (identifier: Q8WXR4-3) [UniParc]FASTAAdd to Basket

    Also known as: MYO3B.1

    The sequence of this isoform differs from the canonical sequence as follows:
         1097-1123: Missing.
         1245-1341: GSENGLAQKH...SSKGDSFAQH → AFPHYGCNFYGFRKWSCTEASNTSPTMSAAQNAE

    Show »
    Length:1,251
    Mass (Da):141,381
    Checksum:i361E5B30B7EC31A9
    GO
    Isoform 4 (identifier: Q8WXR4-4) [UniParc]FASTAAdd to Basket

    Also known as: MYO3B.3

    The sequence of this isoform differs from the canonical sequence as follows:
         1097-1123: Missing.

    Show »
    Length:1,314
    Mass (Da):148,615
    Checksum:iF3A4479775B9C11B
    GO
    Isoform 5 (identifier: Q8WXR4-5) [UniParc]FASTAAdd to Basket

    Also known as: MYO3B.4

    The sequence of this isoform differs from the canonical sequence as follows:
         1193-1341: HSQAQSSPKG...SSKGDSFAQH → WSFTLLLRLE...YAILLQISKD

    Show »
    Length:1,275
    Mass (Da):144,329
    Checksum:i5FA002DEC199A3B1
    GO
    Isoform 6 (identifier: Q8WXR4-6) [UniParc]FASTAAdd to Basket

    Also known as: MYO3B.5

    The sequence of this isoform differs from the canonical sequence as follows:
         1193-1341: Missing.

    Show »
    Length:1,192
    Mass (Da):135,407
    Checksum:i28488BBC7CD00706
    GO
    Isoform 7 (identifier: Q8WXR4-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MLQSALLSTR

    Note: No experimental confirmation available.

    Show »
    Length:1,350
    Mass (Da):152,799
    Checksum:i4DFD8DBA81A82CBE
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti261 – 2611K → R in BAB71011. (PubMed:14702039)Curated
    Sequence conflicti573 – 5731T → A in BAB71011. (PubMed:14702039)Curated
    Sequence conflicti870 – 8701K → M in AAL57233. (PubMed:11991710)Curated
    Sequence conflicti870 – 8701K → M in AAO13799. (PubMed:11991710)Curated
    Sequence conflicti870 – 8701K → M in AAO13800. (PubMed:11991710)Curated
    Sequence conflicti870 – 8701K → M in AAO13801. (PubMed:11991710)Curated
    Sequence conflicti870 – 8701K → M in AAO13802. (PubMed:11991710)Curated
    Sequence conflicti870 – 8701K → M in AAO13803. (PubMed:11991710)Curated
    Sequence conflicti1081 – 10811K → N in BAB71011. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti21 – 211P → S.1 Publication
    Corresponds to variant rs35391761 [ dbSNP | Ensembl ].
    VAR_040886
    Natural varianti185 – 1851R → H.1 Publication
    Corresponds to variant rs55911154 [ dbSNP | Ensembl ].
    VAR_040887
    Natural varianti267 – 2671N → S.1 Publication
    Corresponds to variant rs34509373 [ dbSNP | Ensembl ].
    VAR_040888
    Natural varianti275 – 2751I → V.1 Publication
    Corresponds to variant rs10209102 [ dbSNP | Ensembl ].
    VAR_030605
    Natural varianti309 – 3091K → E.2 Publications
    Corresponds to variant rs4668246 [ dbSNP | Ensembl ].
    VAR_030606
    Natural varianti316 – 3161H → L.1 Publication
    Corresponds to variant rs55633190 [ dbSNP | Ensembl ].
    VAR_040889
    Natural varianti352 – 3521E → Q.1 Publication
    Corresponds to variant rs56179904 [ dbSNP | Ensembl ].
    VAR_040890
    Natural varianti388 – 3881N → S.1 Publication
    Corresponds to variant rs34273653 [ dbSNP | Ensembl ].
    VAR_040891
    Natural varianti406 – 4061A → T.1 Publication
    Corresponds to variant rs10168181 [ dbSNP | Ensembl ].
    VAR_030607
    Natural varianti638 – 6381Q → P.1 Publication
    Corresponds to variant rs55911627 [ dbSNP | Ensembl ].
    VAR_040892
    Natural varianti770 – 7701V → I.2 Publications
    Corresponds to variant rs6736609 [ dbSNP | Ensembl ].
    VAR_030608
    Natural varianti773 – 7731E → G.2 Publications
    Corresponds to variant rs33962844 [ dbSNP | Ensembl ].
    VAR_040893
    Natural varianti798 – 7981E → K.
    Corresponds to variant rs11892763 [ dbSNP | Ensembl ].
    VAR_030609
    Natural varianti918 – 9181R → Q.1 Publication
    Corresponds to variant rs55769829 [ dbSNP | Ensembl ].
    VAR_040894
    Natural varianti969 – 9691S → C.1 Publication
    Corresponds to variant rs35857918 [ dbSNP | Ensembl ].
    VAR_040895
    Natural varianti990 – 9901R → C.1 Publication
    Corresponds to variant rs34236931 [ dbSNP | Ensembl ].
    VAR_040896
    Natural varianti1082 – 10821R → K.2 Publications
    Corresponds to variant rs10185178 [ dbSNP | Ensembl ].
    VAR_030610
    Natural varianti1092 – 10921I → V.1 Publication
    Corresponds to variant rs34219776 [ dbSNP | Ensembl ].
    VAR_040897
    Natural varianti1137 – 11371V → I.1 Publication
    Corresponds to variant rs34546065 [ dbSNP | Ensembl ].
    VAR_040898
    Natural varianti1165 – 11651R → C.1 Publication
    Corresponds to variant rs56052422 [ dbSNP | Ensembl ].
    VAR_040899

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MLQSALLSTR in isoform 7. 1 PublicationVSP_023111
    Alternative sequencei1097 – 112327Missing in isoform 3 and isoform 4. 1 PublicationVSP_010162Add
    BLAST
    Alternative sequencei1193 – 1341149HSQAQ…SFAQH → WSFTLLLRLECNSMISADCN LRPLGSSDSPASASRVAGIT GIHKPRVLQKGAISSQDMQT STRFLGLICCLLGYAILLQI SKD in isoform 5. 1 PublicationVSP_010164Add
    BLAST
    Alternative sequencei1193 – 1341149Missing in isoform 6. 1 PublicationVSP_010165Add
    BLAST
    Alternative sequencei1245 – 134197GSENG…SFAQH → AFPHYGCNFYGFRKWSCTEA SNTSPTMSAAQNAE in isoform 2 and isoform 3. 1 PublicationVSP_010163Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF369908 mRNA. Translation: AAL57233.1.
    AF391554 mRNA. Translation: AAO13799.1.
    AF391555 mRNA. Translation: AAO13800.1.
    AF391556 mRNA. Translation: AAO13801.1.
    AF391557 mRNA. Translation: AAO13802.1.
    AF391558 mRNA. Translation: AAO13803.1.
    AC007277 Genomic DNA. No translation available.
    AC012594 Genomic DNA. Translation: AAY24324.1.
    AC068280 Genomic DNA. No translation available.
    AC093402 Genomic DNA. No translation available.
    AC114794 Genomic DNA. Translation: AAY24159.1.
    AK055778 mRNA. Translation: BAB71011.1.
    CCDSiCCDS42773.1. [Q8WXR4-1]
    CCDS46446.1. [Q8WXR4-4]
    RefSeqiNP_001077084.2. NM_001083615.3. [Q8WXR4-4]
    NP_620482.3. NM_138995.4. [Q8WXR4-1]
    XP_006712362.1. XM_006712299.1. [Q8WXR4-7]
    UniGeneiHs.671900.

    Genome annotation databases

    EnsembliENST00000317935; ENSP00000314650; ENSG00000071909. [Q8WXR4-3]
    ENST00000408978; ENSP00000386213; ENSG00000071909. [Q8WXR4-1]
    ENST00000409044; ENSP00000386497; ENSG00000071909. [Q8WXR4-4]
    GeneIDi140469.
    KEGGihsa:140469.
    UCSCiuc002ufv.4. human. [Q8WXR4-1]
    uc002ufz.3. human. [Q8WXR4-4]

    Polymorphism databases

    DMDMi296439486.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF369908 mRNA. Translation: AAL57233.1 .
    AF391554 mRNA. Translation: AAO13799.1 .
    AF391555 mRNA. Translation: AAO13800.1 .
    AF391556 mRNA. Translation: AAO13801.1 .
    AF391557 mRNA. Translation: AAO13802.1 .
    AF391558 mRNA. Translation: AAO13803.1 .
    AC007277 Genomic DNA. No translation available.
    AC012594 Genomic DNA. Translation: AAY24324.1 .
    AC068280 Genomic DNA. No translation available.
    AC093402 Genomic DNA. No translation available.
    AC114794 Genomic DNA. Translation: AAY24159.1 .
    AK055778 mRNA. Translation: BAB71011.1 .
    CCDSi CCDS42773.1. [Q8WXR4-1 ]
    CCDS46446.1. [Q8WXR4-4 ]
    RefSeqi NP_001077084.2. NM_001083615.3. [Q8WXR4-4 ]
    NP_620482.3. NM_138995.4. [Q8WXR4-1 ]
    XP_006712362.1. XM_006712299.1. [Q8WXR4-7 ]
    UniGenei Hs.671900.

    3D structure databases

    ProteinModelPortali Q8WXR4.
    SMRi Q8WXR4. Positions 15-327, 347-1046, 1073-1129.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 126621. 4 interactions.
    IntActi Q8WXR4. 4 interactions.

    Chemistry

    ChEMBLi CHEMBL5654.
    GuidetoPHARMACOLOGYi 2113.

    PTM databases

    PhosphoSitei Q8WXR4.

    Polymorphism databases

    DMDMi 296439486.

    Proteomic databases

    PaxDbi Q8WXR4.
    PRIDEi Q8WXR4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000317935 ; ENSP00000314650 ; ENSG00000071909 . [Q8WXR4-3 ]
    ENST00000408978 ; ENSP00000386213 ; ENSG00000071909 . [Q8WXR4-1 ]
    ENST00000409044 ; ENSP00000386497 ; ENSG00000071909 . [Q8WXR4-4 ]
    GeneIDi 140469.
    KEGGi hsa:140469.
    UCSCi uc002ufv.4. human. [Q8WXR4-1 ]
    uc002ufz.3. human. [Q8WXR4-4 ]

    Organism-specific databases

    CTDi 140469.
    GeneCardsi GC02P170998.
    H-InvDB HIX0002580.
    HGNCi HGNC:15576. MYO3B.
    MIMi 610040. gene.
    neXtProti NX_Q8WXR4.
    PharmGKBi PA31406.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0515.
    HOVERGENi HBG052555.
    InParanoidi Q8WXR4.
    KOi K08834.
    OMAi HWVLGKT.
    OrthoDBi EOG7SJD3P.
    PhylomeDBi Q8WXR4.
    TreeFami TF326512.

    Enzyme and pathway databases

    SignaLinki Q8WXR4.

    Miscellaneous databases

    GenomeRNAii 140469.
    NextBioi 84146.
    PROi Q8WXR4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8WXR4.
    Bgeei Q8WXR4.
    Genevestigatori Q8WXR4.

    Family and domain databases

    InterProi IPR000048. IQ_motif_EF-hand-BS.
    IPR011009. Kinase-like_dom.
    IPR001609. Myosin_head_motor_dom.
    IPR027417. P-loop_NTPase.
    IPR000719. Prot_kinase_dom.
    IPR017441. Protein_kinase_ATP_BS.
    IPR002290. Ser/Thr_dual-sp_kinase_dom.
    IPR008271. Ser/Thr_kinase_AS.
    [Graphical view ]
    Pfami PF00612. IQ. 1 hit.
    PF00063. Myosin_head. 1 hit.
    PF00069. Pkinase. 1 hit.
    [Graphical view ]
    PRINTSi PR00193. MYOSINHEAVY.
    SMARTi SM00015. IQ. 2 hits.
    SM00242. MYSc. 1 hit.
    SM00220. S_TKc. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 2 hits.
    SSF56112. SSF56112. 1 hit.
    PROSITEi PS50096. IQ. 2 hits.
    PS51456. MYOSIN_MOTOR. 1 hit.
    PS00107. PROTEIN_KINASE_ATP. 1 hit.
    PS50011. PROTEIN_KINASE_DOM. 1 hit.
    PS00108. PROTEIN_KINASE_ST. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A class III myosin expressed in the retina is a potential candidate for Bardet-Biedl syndrome."
      Dose A.C., Burnside B.
      Genomics 79:621-624(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4; 5 AND 6), ALTERNATIVE SPLICING, VARIANT LYS-1082.
    2. "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].
    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] OF 1-1104 (ISOFORM 7), VARIANTS GLU-309; ILE-770; GLY-773 AND LYS-1082.
      Tissue: Kidney.
    4. "Patterns of somatic mutation in human cancer genomes."
      Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G.
      , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
      Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS [LARGE SCALE ANALYSIS] SER-21; HIS-185; SER-267; VAL-275; GLU-309; LEU-316; GLN-352; SER-388; THR-406; PRO-638; ILE-770; GLY-773; GLN-918; CYS-969; CYS-990; VAL-1092; ILE-1137 AND CYS-1165.

    Entry informationi

    Entry nameiMYO3B_HUMAN
    AccessioniPrimary (citable) accession number: Q8WXR4
    Secondary accession number(s): B8ZZR2
    , Q53QE1, Q53T08, Q8IX64, Q8IX65, Q8IX66, Q8IX67, Q8IX68, Q96N94
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 26, 2004
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 119 of the entry and version 4 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 2
      Human chromosome 2: 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. Human and mouse protein kinases
      Human and mouse protein kinases: classification and index
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3