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O75147

- OBSL1_HUMAN

UniProt

O75147 - OBSL1_HUMAN

Protein

Obscurin-like protein 1

Gene

OBSL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 119 (01 Oct 2014)
      Sequence version 4 (05 Apr 2011)
      Previous versions | rss
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    Functioni

    Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695, PubMed:24793696). Acts as a regulator of the Cul7-RING(FBXW8) ubiquitin-protein ligase, playing a critical role in the ubiquitin ligase pathway that regulates Golgi morphogenesis and dendrite patterning in brain. Required to localize CUL7 to the Golgi apparatus in neurons.3 Publications

    GO - Molecular functioni

    1. cytoskeletal adaptor activity Source: BHF-UCL
    2. protein binding Source: UniProtKB

    GO - Biological processi

    1. cardiac myofibril assembly Source: BHF-UCL
    2. cytoskeleton organization Source: BHF-UCL
    3. Golgi organization Source: UniProtKB
    4. microtubule cytoskeleton organization Source: UniProtKB
    5. positive regulation of dendrite morphogenesis Source: UniProtKB
    6. protein localization to Golgi apparatus Source: UniProtKB
    7. regulation of mitosis Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Obscurin-like protein 1
    Gene namesi
    Name:OBSL1
    Synonyms:KIAA0657
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:29092. OBSL1.

    Subcellular locationi

    Cytoplasm. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Cytoplasmperinuclear region. Golgi apparatus
    Note: Colocalizes with CUL7 at the Golgi apparatus in neurons.

    GO - Cellular componenti

    1. 3M complex Source: UniProtKB
    2. centrosome Source: UniProtKB
    3. cytoplasm Source: UniProtKB
    4. Golgi apparatus Source: UniProtKB
    5. intercalated disc Source: BHF-UCL
    6. M band Source: BHF-UCL
    7. perinuclear region of cytoplasm Source: UniProtKB
    8. Z disc Source: BHF-UCL

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton, Golgi apparatus

    Pathology & Biotechi

    Involvement in diseasei

    3M syndrome 2 (3M2) [MIM:612921]: An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi17 – 171F → R: Diminishes binding affinity for TTN. 1 Publication

    Keywords - Diseasei

    Dwarfism

    Organism-specific databases

    MIMi612921. phenotype.
    Orphaneti2616. 3M syndrome.
    PharmGKBiPA142671235.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 18961896Obscurin-like protein 1PRO_0000247959Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei10 – 101Phosphoserine1 Publication
    Disulfide bondi33 ↔ 84PROSITE-ProRule annotation
    Disulfide bondi149 ↔ 209PROSITE-ProRule annotation
    Disulfide bondi267 ↔ 319PROSITE-ProRule annotation
    Disulfide bondi362 ↔ 412PROSITE-ProRule annotation
    Disulfide bondi738 ↔ 788PROSITE-ProRule annotation
    Disulfide bondi829 ↔ 879PROSITE-ProRule annotation
    Disulfide bondi920 ↔ 970PROSITE-ProRule annotation
    Disulfide bondi1011 ↔ 1061PROSITE-ProRule annotation
    Disulfide bondi1103 ↔ 1153PROSITE-ProRule annotation
    Disulfide bondi1195 ↔ 1245PROSITE-ProRule annotation
    Disulfide bondi1381 ↔ 1522PROSITE-ProRule annotation
    Disulfide bondi1650 ↔ 1700PROSITE-ProRule annotation

    Keywords - PTMi

    Disulfide bond, Phosphoprotein

    Proteomic databases

    MaxQBiO75147.
    PaxDbiO75147.
    PRIDEiO75147.

    PTM databases

    PhosphoSiteiO75147.

    Expressioni

    Tissue specificityi

    Widely expressed, with predominant levels found in the heart.1 Publication

    Gene expression databases

    ArrayExpressiO75147.
    BgeeiO75147.
    CleanExiHS_OBSL1.
    GenevestigatoriO75147.

    Organism-specific databases

    HPAiHPA036404.
    HPA036405.

    Interactioni

    Subunit structurei

    Component of the 3M complex, composed of core components CUL7, CCDC8 and OBSL1. Interacts with CCDC8. Interacts with CUL7; the interaction is direct. Interacts with FBXW8. Interacts (via N-terminal Ig-like domain) with TTN/titin (via C-terminal Ig-like domain); the interaction is direct.5 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    TTNQ8WZ428EBI-1223896,EBI-681210

    Protein-protein interaction databases

    BioGridi116944. 14 interactions.
    DIPiDIP-38340N.
    IntActiO75147. 10 interactions.
    MINTiMINT-7979572.
    STRINGi9606.ENSP00000385636.

    Structurei

    Secondary structure

    1
    1896
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi10 – 167
    Beta strandi21 – 244
    Beta strandi29 – 3911
    Beta strandi42 – 476
    Beta strandi56 – 594
    Beta strandi66 – 738
    Helixi76 – 783
    Beta strandi80 – 889
    Beta strandi91 – 10212
    Beta strandi618 – 6203
    Beta strandi625 – 6284
    Beta strandi632 – 64110
    Beta strandi646 – 6516
    Beta strandi669 – 6724
    Beta strandi678 – 6858
    Beta strandi692 – 6998
    Beta strandi702 – 71110
    Beta strandi724 – 7329
    Beta strandi748 – 7514
    Beta strandi762 – 7676
    Beta strandi770 – 7778
    Turni780 – 7823
    Beta strandi784 – 7896
    Beta strandi797 – 8026
    Beta strandi815 – 8184
    Beta strandi825 – 8306
    Beta strandi839 – 8424
    Beta strandi854 – 8585
    Beta strandi861 – 8688
    Helixi871 – 8733
    Beta strandi875 – 8806
    Beta strandi885 – 8917
    Beta strandi898 – 9025
    Beta strandi906 – 9116
    Beta strandi916 – 9238
    Beta strandi930 – 9334
    Beta strandi944 – 9485
    Beta strandi950 – 95910
    Turni962 – 9643
    Beta strandi966 – 9749
    Beta strandi976 – 9849
    Beta strandi1279 – 12813
    Beta strandi1287 – 12904
    Beta strandi1301 – 13044
    Beta strandi1313 – 13197
    Beta strandi1324 – 13307
    Beta strandi1337 – 13426
    Turni1344 – 13463
    Beta strandi1348 – 13547

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2CPCNMR-A893-992[»]
    2E6PNMR-A714-804[»]
    2E6QNMR-A615-713[»]
    2LU7NMR-A1277-1357[»]
    2LVCNMR-A805-892[»]
    2WP3X-ray1.48O1-106[»]
    2WWKX-ray1.70O1-106[»]
    2WWMX-ray2.30C/O1-106[»]
    3KNBX-ray1.40B1-105[»]
    ProteinModelPortaliO75147.
    SMRiO75147. Positions 8-103, 608-1074, 1277-1357.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiO75147.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini12 – 10089Ig-like 1Add
    BLAST
    Domaini128 – 22598Ig-like 2Add
    BLAST
    Domaini243 – 33088Ig-like 3Add
    BLAST
    Domaini339 – 42587Ig-like 4Add
    BLAST
    Domaini517 – 61599Fibronectin type-IIIPROSITE-ProRule annotationAdd
    BLAST
    Domaini714 – 80087Ig-like 5Add
    BLAST
    Domaini804 – 89390Ig-like 6Add
    BLAST
    Domaini902 – 98281Ig-like 7Add
    BLAST
    Domaini986 – 107590Ig-like 8Add
    BLAST
    Domaini1078 – 117295Ig-like 9Add
    BLAST
    Domaini1174 – 126188Ig-like 10Add
    BLAST
    Domaini1265 – 135793Ig-like 11Add
    BLAST
    Domaini1357 – 1534178Ig-like 12Add
    BLAST
    Domaini1628 – 172093Ig-like 13Add
    BLAST
    Domaini1794 – 1896103Ig-like 14Add
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni17 – 193Interaction with TTN
    Regioni85 – 9410Interaction with TTN

    Sequence similaritiesi

    Contains 1 fibronectin type-III domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Immunoglobulin domain, Repeat

    Phylogenomic databases

    eggNOGiNOG12793.
    HOGENOMiHOG000263472.
    HOVERGENiHBG082081.
    OMAiETSFIYR.
    OrthoDBiEOG744T84.
    PhylomeDBiO75147.

    Family and domain databases

    Gene3Di2.60.40.10. 20 hits.
    InterProiIPR003961. Fibronectin_type3.
    IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR013098. Ig_I-set.
    IPR003599. Ig_sub.
    IPR003598. Ig_sub2.
    [Graphical view]
    PfamiPF07679. I-set. 15 hits.
    [Graphical view]
    SMARTiSM00060. FN3. 1 hit.
    SM00409. IG. 12 hits.
    SM00408. IGc2. 6 hits.
    [Graphical view]
    SUPFAMiSSF49265. SSF49265. 1 hit.
    PROSITEiPS50853. FN3. 1 hit.
    PS50835. IG_LIKE. 14 hits.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O75147-3) [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

    MKASSGDQGS PPCFLRFPRP VRVVSGAEAE LKCVVLGEPP PVVVWEKGGQ     50
    QLAASERLSF PADGAEHGLL LTAALPTDAG VYVCRARNAA GEAYAAAAVT 100
    VLEPPASDPE LQPAERPLPS PGSGEGAPVF LTGPRSQWVL RGAEVVLTCR 150
    AGGLPEPTLY WEKDGMALDE VWDSSHFALQ PGRAEDGPGA SLALRILAAR 200
    LPDSGVYVCH ARNAHGHAQA GALLQVHQPP ESPPADPDEA PAPVVEPLKC 250
    APKTFWVNEG KHAKFRCYVM GKPEPEIEWH WEGRPLLPDR RRLMYRDRDG 300
    GFVLKVLYCQ AKDRGLYVCA ARNSAGQTLS AVQLHVKEPR LRFTRPLQDV 350
    EGREHGIAVL ECKVPNSRIP TAWFREDQRL LPCRKYEQIE EGTVRRLIIH 400
    RLKADDDGIY LCEMRGRVRT VANVTVKGPI LKRLPRKLDV LEGENAVLLV 450
    ETLEAGVEGR WSRDGEELPV ICQSSSGHMH ALVLPGVTRE DAGEVTFSLG 500
    NSRTTTLLRV KCVKHSPPGP PILAEMFKGH KNTVLLTWKP PEPAPETPFI 550
    YRLERQEVGS EDWIQCFSIE KAGAVEVPGD CVPSEGDYRF RICTVSGHGR 600
    SPHVVFHGSA HLVPTARLVA GLEDVQVYDG EDAVFSLDLS TIIQGTWFLN 650
    GEELKSNEPE GQVEPGALRY RIEQKGLQHR LILHAVKHQD SGALVGFSCP 700
    GVQDSAALTI QESPVHILSP QDRVSLTFTT SERVVLTCEL SRVDFPATWY 750
    KDGQKVEESE LLVVKMDGRK HRLILPEAKV QDSGEFECRT EGVSAFFGVT 800
    VQDPPVHIVD PREHVFVHAI TSECVMLACE VDREDAPVRW YKDGQEVEES 850
    DFVVLENEGP HRRLVLPATQ PSDGGEFQCV AGDECAYFTV TITDVSSWIV 900
    YPSGKVYVAA VRLERVVLTC ELCRPWAEVR WTKDGEEVVE SPALLLQKED 950
    TVRRLVLPAV QLEDSGEYLC EIDDESASFT VTVTEPPVRI IYPRDEVTLI 1000
    AVTLECVVLM CELSREDAPV RWYKDGLEVE ESEALVLERD GPRCRLVLPA 1050
    AQPEDGGEFV CDAGDDSAFF TVTVTAPPER IVHPAARSLD LHFGAPGRVE 1100
    LRCEVAPAGS QVRWYKDGLE VEASDALQLG AEGPTRTLTL PHAQPEDAGE 1150
    YVCETRHEAI TFNVILAEPP VQFLALETTP SPLCVAPGEP VVLSCELSRA 1200
    GAPVVWSHNG RPVQEGEGLE LHAEGPRRVL CIQAAGPAHA GLYTCQSGAA 1250
    PGAPSLSFTV QVAEPPVRVV APEAAQTRVR STPGGDLELV VHLSGPGGPV 1300
    RWYKDGERLA SQGRVQLEQA GARQVLRVQG ARSGDAGEYL CDAPQDSRIF 1350
    LVSVEEPLLV KLVSELTPLT VHEGDDATFR CEVSPPDADV TWLRNGAVVT 1400
    PGPQVEMAQN GSSRILTLRG CQLGDAGTVT LRAGSTATSA RLHVRETELL 1450
    FLRRLQDVRA EEGQDVCLEV ETGRVGAAGA VRWVRGGQPL PHDSRLSMAQ 1500
    DGHIHRLFIH GVILADQGTY GCESHHDRTL ARLSVRPRQL RVLRPLEDVT 1550
    ISEGGSATFQ LELSQEGVTG EWARGGVQLY PGPKCHIHSD GHRHRLVLNG 1600
    LGLADSGCVS FTADSLRCAA RLIVREVPVT IVRGPHDLEV TEGDTATFEC 1650
    ELSQALADVT WEKDGNALTP SPRLRLQALG TRRLLQLRRC GPSDAGTYSC 1700
    AVGTARAGPV RLTVRERTVA VLSELRSVSA REGDGATFEC TVSEVETTGR 1750
    WELGGRPLRP GARVRIRQEG KKHILVLSEL RAEDAGEVRF QAGPAQSLAL 1800
    LEVEALPLQM CRHPPREKTV LVGRRAVLEV TVSRSGGHVC WLREGAELCP 1850
    GDKYEMRSHG PTHSLVIHDV RPEDQGTYCC QAGQDSTHTR LLVEGN 1896
    Length:1,896
    Mass (Da):206,947
    Last modified:April 5, 2011 - v4
    Checksum:i6D592AC3E30E9ACA
    GO
    Isoform 2 (identifier: O75147-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         986-1025: PPVRIIYPRD...EDAPVRWYKD → SYQSQDSSNN...PPWRRTAGTE
         1026-1896: Missing.

    Show »
    Length:1,025
    Mass (Da):113,273
    Checksum:iCAF2D3D8E1920335
    GO
    Isoform 3 (identifier: O75147-1) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1076-1167: Missing.
         1405-1493: VEMAQNGSSR...VRGGQPLPHD → RQSCCSYGGC...TTIAPWPGSA
         1494-1896: Missing.

    Show »
    Length:1,401
    Mass (Da):152,925
    Checksum:i3AE3886DF8C0B8A8
    GO
    Isoform 4 (identifier: O75147-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1537-1543: PRQLRVL → RECPVLS
         1544-1896: Missing.

    Show »
    Length:1,543
    Mass (Da):168,521
    Checksum:i8DAB399C567C8CDD
    GO

    Sequence cautioni

    The sequence AAH07201.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti165 – 1651G → R in BAA31632. (PubMed:9734811)Curated
    Sequence conflicti512 – 5121C → CG in ABO42327. (PubMed:17289344)Curated
    Sequence conflicti723 – 7231R → K in AAH07201. (PubMed:15489334)Curated
    Sequence conflicti723 – 7231R → K in BAA31632. (PubMed:9734811)Curated
    Sequence conflicti1365 – 13651E → D in BAA31632. (PubMed:9734811)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei986 – 102540PPVRI…RWYKD → SYQSQDSSNNNPELCVLLKK PKTRRLWSRFPPWRRTAGTE in isoform 2. 1 PublicationVSP_040784Add
    BLAST
    Alternative sequencei1026 – 1896871Missing in isoform 2. 1 PublicationVSP_040785Add
    BLAST
    Alternative sequencei1076 – 116792Missing in isoform 3. 1 PublicationVSP_040786Add
    BLAST
    Alternative sequencei1405 – 149389VEMAQ…PLPHD → RQSCCSYGGCRMCGQRKART CVSKWRQAEWVQRGPCAGCE VGSPCPTTLACPWPRMGTST ASSSMVSYWPTRAPTAARAT TIAPWPGSA in isoform 3. 1 PublicationVSP_040787Add
    BLAST
    Alternative sequencei1494 – 1896403Missing in isoform 3. 1 PublicationVSP_040788Add
    BLAST
    Alternative sequencei1537 – 15437PRQLRVL → RECPVLS in isoform 4. 1 PublicationVSP_054755
    Alternative sequencei1544 – 1896353Missing in isoform 4. 1 PublicationVSP_054756Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    EF063637 mRNA. Translation: ABO42327.1.
    EF063638 mRNA. Translation: ABO42328.1.
    AC009955 Genomic DNA. No translation available.
    BC007201 mRNA. Translation: AAH07201.1. Different initiation.
    AB014557 mRNA. Translation: BAA31632.2.
    CCDSiCCDS46520.1. [O75147-3]
    CCDS54433.1. [O75147-2]
    CCDS63134.1. [O75147-4]
    RefSeqiNP_001166879.1. NM_001173408.1. [O75147-2]
    NP_001166902.1. NM_001173431.1. [O75147-4]
    NP_056126.1. NM_015311.2. [O75147-3]
    UniGeneiHs.526594.

    Genome annotation databases

    EnsembliENST00000373873; ENSP00000362980; ENSG00000124006. [O75147-2]
    ENST00000404537; ENSP00000385636; ENSG00000124006. [O75147-3]
    ENST00000603926; ENSP00000474519; ENSG00000124006. [O75147-4]
    GeneIDi23363.
    KEGGihsa:23363.
    UCSCiuc002vmi.3. human. [O75147-2]
    uc010fwk.3. human. [O75147-3]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    EF063637 mRNA. Translation: ABO42327.1 .
    EF063638 mRNA. Translation: ABO42328.1 .
    AC009955 Genomic DNA. No translation available.
    BC007201 mRNA. Translation: AAH07201.1 . Different initiation.
    AB014557 mRNA. Translation: BAA31632.2 .
    CCDSi CCDS46520.1. [O75147-3 ]
    CCDS54433.1. [O75147-2 ]
    CCDS63134.1. [O75147-4 ]
    RefSeqi NP_001166879.1. NM_001173408.1. [O75147-2 ]
    NP_001166902.1. NM_001173431.1. [O75147-4 ]
    NP_056126.1. NM_015311.2. [O75147-3 ]
    UniGenei Hs.526594.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2CPC NMR - A 893-992 [» ]
    2E6P NMR - A 714-804 [» ]
    2E6Q NMR - A 615-713 [» ]
    2LU7 NMR - A 1277-1357 [» ]
    2LVC NMR - A 805-892 [» ]
    2WP3 X-ray 1.48 O 1-106 [» ]
    2WWK X-ray 1.70 O 1-106 [» ]
    2WWM X-ray 2.30 C/O 1-106 [» ]
    3KNB X-ray 1.40 B 1-105 [» ]
    ProteinModelPortali O75147.
    SMRi O75147. Positions 8-103, 608-1074, 1277-1357.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116944. 14 interactions.
    DIPi DIP-38340N.
    IntActi O75147. 10 interactions.
    MINTi MINT-7979572.
    STRINGi 9606.ENSP00000385636.

    PTM databases

    PhosphoSitei O75147.

    Proteomic databases

    MaxQBi O75147.
    PaxDbi O75147.
    PRIDEi O75147.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000373873 ; ENSP00000362980 ; ENSG00000124006 . [O75147-2 ]
    ENST00000404537 ; ENSP00000385636 ; ENSG00000124006 . [O75147-3 ]
    ENST00000603926 ; ENSP00000474519 ; ENSG00000124006 . [O75147-4 ]
    GeneIDi 23363.
    KEGGi hsa:23363.
    UCSCi uc002vmi.3. human. [O75147-2 ]
    uc010fwk.3. human. [O75147-3 ]

    Organism-specific databases

    CTDi 23363.
    GeneCardsi GC02M220415.
    GeneReviewsi OBSL1.
    H-InvDB HIX0002869.
    HIX0161860.
    HGNCi HGNC:29092. OBSL1.
    HPAi HPA036404.
    HPA036405.
    MIMi 610991. gene.
    612921. phenotype.
    neXtProti NX_O75147.
    Orphaneti 2616. 3M syndrome.
    PharmGKBi PA142671235.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG12793.
    HOGENOMi HOG000263472.
    HOVERGENi HBG082081.
    OMAi ETSFIYR.
    OrthoDBi EOG744T84.
    PhylomeDBi O75147.

    Miscellaneous databases

    EvolutionaryTracei O75147.
    GeneWikii OBSL1.
    GenomeRNAii 23363.
    NextBioi 45409.
    PROi O75147.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O75147.
    Bgeei O75147.
    CleanExi HS_OBSL1.
    Genevestigatori O75147.

    Family and domain databases

    Gene3Di 2.60.40.10. 20 hits.
    InterProi IPR003961. Fibronectin_type3.
    IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR013098. Ig_I-set.
    IPR003599. Ig_sub.
    IPR003598. Ig_sub2.
    [Graphical view ]
    Pfami PF07679. I-set. 15 hits.
    [Graphical view ]
    SMARTi SM00060. FN3. 1 hit.
    SM00409. IG. 12 hits.
    SM00408. IGc2. 6 hits.
    [Graphical view ]
    SUPFAMi SSF49265. SSF49265. 1 hit.
    PROSITEi PS50853. FN3. 1 hit.
    PS50835. IG_LIKE. 14 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Obscurin-like 1, OBSL1, is a novel cytoskeletal protein related to obscurin."
      Geisler S.B., Robinson D., Hauringa M., Raeker M.O., Borisov A.B., Westfall M.V., Russell M.W.
      Genomics 89:521-531(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4), TISSUE SPECIFICITY.
      Tissue: Heart.
    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. "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 2).
      Tissue: Muscle.
    4. "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
      Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 5:169-176(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 165-1896 (ISOFORM 3).
      Tissue: Brain.
    5. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
      Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
      DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SEQUENCE REVISION.
    6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-10, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. "The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1."
      Hanson D., Murray P.G., Sud A., Temtamy S.A., Aglan M., Superti-Furga A., Holder S.E., Urquhart J., Hilton E., Manson F.D.C., Scambler P., Black G.C.M., Clayton P.E.
      Am. J. Hum. Genet. 84:801-806(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN 3M2.
    8. "Exome sequencing identifies CCDC8 mutations in 3-M syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth."
      Hanson D., Murray P.G., O'Sullivan J., Urquhart J., Daly S., Bhaskar S.S., Biesecker L.G., Skae M., Smith C., Cole T., Kirk J., Chandler K., Kingston H., Donnai D., Clayton P.E., Black G.C.
      Am. J. Hum. Genet. 89:148-153(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CCDC8 AND CUL7.
    9. "An OBSL1-Cul7Fbxw8 ubiquitin ligase signaling mechanism regulates Golgi morphology and dendrite patterning."
      Litterman N., Ikeuchi Y., Gallardo G., O'Connell B.C., Sowa M.E., Gygi S.P., Harper J.W., Bonni A.
      PLoS Biol. 9:E1001060-E1001060(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH FBXW8 AND CUL7, SUBCELLULAR LOCATION.
    10. Cited for: FUNCTION, IDENTIFICATION IN THE 3M COMPLEX, SUBCELLULAR LOCATION.
    11. "CUL9 mediates the functions of the 3M complex and ubiquitylates survivin to maintain genome integrity."
      Li Z., Pei X.H., Yan J., Yan F., Cappell K.M., Whitehurst A.W., Xiong Y.
      Mol. Cell 54:0-0(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    12. Cited for: INVOLVEMENT IN 3M2.
    13. "Solution structure of Ig-like domains from human obscurin-like protein 1."
      RIKEN structural genomics initiative (RSGI)
      Submitted (NOV-2005) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 615-992.
    14. "Molecular basis of the head-to-tail assembly of giant muscle proteins obscurin-like 1 and titin."
      Sauer F., Vahokoski J., Song Y.H., Wilmanns M.
      EMBO Rep. 11:534-540(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.4 ANGSTROMS) OF 1-105 IN COMPLEX WITH THE C-TERMINAL IG-LIKE DOMAIN OF TTN, INTERACTION WITH TTN.
    15. "Structural insight into M-band assembly and mechanics from the titin-obscurin-like-1 complex."
      Pernigo S., Fukuzawa A., Bertz M., Holt M., Rief M., Steiner R.A., Gautel M.
      Proc. Natl. Acad. Sci. U.S.A. 107:2908-2913(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.48 ANGSTROMS) OF 1-106 OF WILD-TYPE AND MUTANT ARG-17 IN COMPLEX WITH THE C-TERMINAL IG-LIKE DOMAIN OF TTN, INTERACTION WITH TTN, MUTAGENESIS OF PHE-17.
    16. "Solution NMR structure of Ig like domain (805-892) of obscurin-like protein 1 from Homo sapiens, Northeast Structural Genomics Consortium (NESG) Target HR8578K (CASP Target)."
      Northeast structural genomics consortium (NESG)
      Submitted (JUN-2012) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 805-892.
    17. "Solution NMR Structure of Ig like domain (1277-1357) of Obscurin-like protein 1 from Homo sapiens, Northeast Structural Genomics Consortium (NESG) Target HR8578D (CASP Target)."
      Northeast structural genomics consortium (NESG)
      Submitted (JUN-2012) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 1277-1357.

    Entry informationi

    Entry nameiOBSL1_HUMAN
    AccessioniPrimary (citable) accession number: O75147
    Secondary accession number(s): A4KVA4
    , A4KVA5, Q96IW3, S4R3M6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 22, 2006
    Last sequence update: April 5, 2011
    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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3