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O75147

- OBSL1_HUMAN

UniProt

O75147 - OBSL1_HUMAN

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Protein
Obscurin-like protein 1
Gene
OBSL1, KIAA0657
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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 (1 Publication, 1 Publication). 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.

GO - Molecular functioni

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

GO - Biological processi

  1. Golgi organization Source: UniProtKB
  2. cardiac myofibril assembly Source: BHF-UCL
  3. cytoskeleton organization Source: BHF-UCL
  4. positive regulation of dendrite morphogenesis Source: UniProtKB
  5. protein localization to Golgi apparatus Source: UniProtKB
Complete GO annotation...

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. Golgi apparatus Source: UniProtKB
  2. M band Source: BHF-UCL
  3. Z disc Source: BHF-UCL
  4. intercalated disc Source: BHF-UCL
  5. perinuclear region of cytoplasm Source: UniProtKB
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

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 1
PRO_0000247959Add
BLAST

Amino acid modifications

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

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.

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

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.

Miscellaneous databases

EvolutionaryTraceiO75147.

Family & Domainsi

Domains and Repeats

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

Region

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

Sequence similaritiesi

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.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei986 – 102540PPVRI…RWYKD → SYQSQDSSNNNPELCVLLKK PKTRRLWSRFPPWRRTAGTE in isoform 2.
VSP_040784Add
BLAST
Alternative sequencei1026 – 1896871Missing in isoform 2.
VSP_040785Add
BLAST
Alternative sequencei1076 – 116792Missing in isoform 3.
VSP_040786Add
BLAST
Alternative sequencei1405 – 149389VEMAQ…PLPHD → RQSCCSYGGCRMCGQRKART CVSKWRQAEWVQRGPCAGCE VGSPCPTTLACPWPRMGTST ASSSMVSYWPTRAPTAARAT TIAPWPGSA in isoform 3.
VSP_040787Add
BLAST
Alternative sequencei1494 – 1896403Missing in isoform 3.
VSP_040788Add
BLAST
Alternative sequencei1537 – 15437PRQLRVL → RECPVLS in isoform 4.
VSP_054755
Alternative sequencei1544 – 1896353Missing in isoform 4.
VSP_054756Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti165 – 1651G → R in BAA31632. 1 Publication
Sequence conflicti512 – 5121C → CG in ABO42327. 1 Publication
Sequence conflicti723 – 7231R → K in AAH07201. 1 Publication
Sequence conflicti723 – 7231R → K in BAA31632. 1 Publication
Sequence conflicti1365 – 13651E → D in BAA31632. 1 Publication

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.
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...

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 .
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 118 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

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