O75147 (OBSL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Obscurin-like protein 1

Gene names

Name:	OBSL1
Synonyms:	KIAA0657

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1896 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Regulates CUL7-FBXW8-containing ubiquitin ligase complex, playing a critical role in the ubiquitin ligase pathway that regulates Golgi morphogenesis and dendrite patterning in brain. Localizes CUL7 to the Golgi apparatus in neurons. Ref.9
Subunit structure	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. Ref.8 Ref.9 Ref.11 Ref.12
Subcellular location	Cytoplasm. Cytoplasm › perinuclear region. Golgi apparatus. Note: Co-localizes with CUL7 at the Golgi apparatus in neurons. Ref.9
Tissue specificity	Widely expressed, with predominant levels found in the heart. Ref.1
Involvement in disease	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. Ref.7
Sequence similarities	Contains 1 fibronectin type-III domain. Contains 14 Ig-like (immunoglobulin-like) domains.
Sequence caution	The sequence AAH07201.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Cellular component	Cytoplasm Golgi apparatus
Coding sequence diversity	Alternative splicing
Disease	Dwarfism
Domain	Immunoglobulin domain Repeat
PTM	Disulfide bond Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cardiac myofibril assembly Inferred from expression pattern Ref.1. Source: BHF-UCL
Cellular_component	M band Traceable author statement Ref.1. Source: BHF-UCL Z disc Traceable author statement Ref.1. Source: BHF-UCL intercalated disc Traceable author statement Ref.1. Source: BHF-UCL perinuclear region of cytoplasm Traceable author statement Ref.1. Source: BHF-UCL
Molecular_function	cytoskeletal adaptor activity Non-traceable author statement Ref.1. Source: BHF-UCL
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O75147-3)

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.

Isoform 2 (identifier: O75147-2)

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

Isoform 3 (identifier: O75147-1)

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

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 1896

1896

Obscurin-like protein 1

PRO_0000247959

Regions

Domain

12 – 100

89

Ig-like 1

Domain

128 – 225

98

Ig-like 2

Domain

243 – 330

88

Ig-like 3

Domain

339 – 425

87

Ig-like 4

Domain

517 – 610

94

Fibronectin type-III

Domain

714 – 800

87

Ig-like 5

Domain

804 – 893

90

Ig-like 6

Domain

902 – 982

81

Ig-like 7

Domain

986 – 1075

90

Ig-like 8

Domain

1078 – 1172

95

Ig-like 9

Domain

1174 – 1261

88

Ig-like 10

Domain

1265 – 1357

93

Ig-like 11

Domain

1357 – 1534

178

Ig-like 12

Domain

1628 – 1720

93

Ig-like 13

Domain

1794 – 1896

103

Ig-like 14

Region

17 – 19

3

Interaction with TTN

Region

85 – 94

10

Interaction with TTN

Amino acid modifications

Modified residue

10

1

Phosphoserine Ref.6

Disulfide bond

33 ↔ 84

By similarity

Disulfide bond

149 ↔ 209

By similarity

Disulfide bond

267 ↔ 319

By similarity

Disulfide bond

362 ↔ 412

By similarity

Disulfide bond

738 ↔ 788

By similarity

Disulfide bond

829 ↔ 879

By similarity

Disulfide bond

920 ↔ 970

By similarity

Disulfide bond

1011 ↔ 1061

By similarity

Disulfide bond

1103 ↔ 1153

By similarity

Disulfide bond

1195 ↔ 1245

By similarity

Disulfide bond

1381 ↔ 1522

By similarity

Disulfide bond

1650 ↔ 1700

By similarity

Natural variations

Alternative sequence

986 – 1025

40

PPVRI…RWYKD → SYQSQDSSNNNPELCVLLKK PKTRRLWSRFPPWRRTAGTE in isoform 2.

VSP_040784

Alternative sequence

1026 – 1896

871

Missing in isoform 2.

VSP_040785

Alternative sequence

1076 – 1167

92

Missing in isoform 3.

VSP_040786

Alternative sequence

1405 – 1493

89

VEMAQ…PLPHD → RQSCCSYGGCRMCGQRKART CVSKWRQAEWVQRGPCAGCE VGSPCPTTLACPWPRMGTST ASSSMVSYWPTRAPTAARAT TIAPWPGSA in isoform 3.

VSP_040787

Alternative sequence

1494 – 1896

403

Missing in isoform 3.

VSP_040788

Experimental info

Mutagenesis

17

1

F → R: Diminishes binding affinity for TTN. Ref.12

Sequence conflict

165

1

G → R in BAA31632. Ref.4

Sequence conflict

723

1

R → K in AAH07201. Ref.3

Sequence conflict

723

1

R → K in BAA31632. Ref.4

Sequence conflict

1365

1

E → D in BAA31632. Ref.4

Secondary structure

1

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1896

Helix Strand Turn

Details...

Beta strand

10 – 16

7

Beta strand

21 – 24

4

Beta strand

29 – 39

11

Beta strand

42 – 47

6

Beta strand

56 – 59

4

Beta strand

66 – 73

8

Helix

76 – 78

3

Beta strand

80 – 88

9

Beta strand

91 – 102

12

Beta strand

618 – 620

3

Beta strand

625 – 628

4

Beta strand

632 – 641

10

Beta strand

646 – 651

6

Beta strand

669 – 672

4

Beta strand

678 – 685

8

Beta strand

692 – 699

8

Beta strand

702 – 711

10

Beta strand

724 – 732

9

Beta strand

748 – 751

4

Beta strand

762 – 767

6

Beta strand

770 – 777

8

Turn

780 – 782

3

Beta strand

784 – 789

6

Beta strand

797 – 802

6

Beta strand

815 – 818

4

Beta strand

825 – 830

6

Beta strand

839 – 842

4

Beta strand

854 – 858

5

Beta strand

861 – 868

8

Helix

871 – 873

3

Beta strand

875 – 880

6

Beta strand

885 – 891

7

Beta strand

898 – 902

5

Beta strand

906 – 911

6

Beta strand

916 – 923

8

Beta strand

930 – 933

4

Beta strand

944 – 948

5

Beta strand

950 – 959

10

Turn

962 – 964

3

Beta strand

966 – 974

9

Beta strand

976 – 984

9

Beta strand

1279 – 1281

3

Beta strand

1287 – 1290

4

Beta strand

1301 – 1304

4

Beta strand

1313 – 1319

7

Beta strand

1324 – 1330

7

Beta strand

1337 – 1342

6

Turn

1344 – 1346

3

Beta strand

1348 – 1354

7

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 5, 2011. Version 4. Checksum: 6D592AC3E30E9ACA	FASTA	1,896	206,947
	10 20 30 40 50 60 MKASSGDQGS PPCFLRFPRP VRVVSGAEAE LKCVVLGEPP PVVVWEKGGQ QLAASERLSF 70 80 90 100 110 120 PADGAEHGLL LTAALPTDAG VYVCRARNAA GEAYAAAAVT VLEPPASDPE LQPAERPLPS 130 140 150 160 170 180 PGSGEGAPVF LTGPRSQWVL RGAEVVLTCR AGGLPEPTLY WEKDGMALDE VWDSSHFALQ 190 200 210 220 230 240 PGRAEDGPGA SLALRILAAR LPDSGVYVCH ARNAHGHAQA GALLQVHQPP ESPPADPDEA 250 260 270 280 290 300 PAPVVEPLKC APKTFWVNEG KHAKFRCYVM GKPEPEIEWH WEGRPLLPDR RRLMYRDRDG 310 320 330 340 350 360 GFVLKVLYCQ AKDRGLYVCA ARNSAGQTLS AVQLHVKEPR LRFTRPLQDV EGREHGIAVL 370 380 390 400 410 420 ECKVPNSRIP TAWFREDQRL LPCRKYEQIE EGTVRRLIIH RLKADDDGIY LCEMRGRVRT 430 440 450 460 470 480 VANVTVKGPI LKRLPRKLDV LEGENAVLLV ETLEAGVEGR WSRDGEELPV ICQSSSGHMH 490 500 510 520 530 540 ALVLPGVTRE DAGEVTFSLG NSRTTTLLRV KCVKHSPPGP PILAEMFKGH KNTVLLTWKP 550 560 570 580 590 600 PEPAPETPFI YRLERQEVGS EDWIQCFSIE KAGAVEVPGD CVPSEGDYRF RICTVSGHGR 610 620 630 640 650 660 SPHVVFHGSA HLVPTARLVA GLEDVQVYDG EDAVFSLDLS TIIQGTWFLN GEELKSNEPE 670 680 690 700 710 720 GQVEPGALRY RIEQKGLQHR LILHAVKHQD SGALVGFSCP GVQDSAALTI QESPVHILSP 730 740 750 760 770 780 QDRVSLTFTT SERVVLTCEL SRVDFPATWY KDGQKVEESE LLVVKMDGRK HRLILPEAKV 790 800 810 820 830 840 QDSGEFECRT EGVSAFFGVT VQDPPVHIVD PREHVFVHAI TSECVMLACE VDREDAPVRW 850 860 870 880 890 900 YKDGQEVEES DFVVLENEGP HRRLVLPATQ PSDGGEFQCV AGDECAYFTV TITDVSSWIV 910 920 930 940 950 960 YPSGKVYVAA VRLERVVLTC ELCRPWAEVR WTKDGEEVVE SPALLLQKED TVRRLVLPAV 970 980 990 1000 1010 1020 QLEDSGEYLC EIDDESASFT VTVTEPPVRI IYPRDEVTLI AVTLECVVLM CELSREDAPV 1030 1040 1050 1060 1070 1080 RWYKDGLEVE ESEALVLERD GPRCRLVLPA AQPEDGGEFV CDAGDDSAFF TVTVTAPPER 1090 1100 1110 1120 1130 1140 IVHPAARSLD LHFGAPGRVE LRCEVAPAGS QVRWYKDGLE VEASDALQLG AEGPTRTLTL 1150 1160 1170 1180 1190 1200 PHAQPEDAGE YVCETRHEAI TFNVILAEPP VQFLALETTP SPLCVAPGEP VVLSCELSRA 1210 1220 1230 1240 1250 1260 GAPVVWSHNG RPVQEGEGLE LHAEGPRRVL CIQAAGPAHA GLYTCQSGAA PGAPSLSFTV 1270 1280 1290 1300 1310 1320 QVAEPPVRVV APEAAQTRVR STPGGDLELV VHLSGPGGPV RWYKDGERLA SQGRVQLEQA 1330 1340 1350 1360 1370 1380 GARQVLRVQG ARSGDAGEYL CDAPQDSRIF LVSVEEPLLV KLVSELTPLT VHEGDDATFR 1390 1400 1410 1420 1430 1440 CEVSPPDADV TWLRNGAVVT PGPQVEMAQN GSSRILTLRG CQLGDAGTVT LRAGSTATSA 1450 1460 1470 1480 1490 1500 RLHVRETELL FLRRLQDVRA EEGQDVCLEV ETGRVGAAGA VRWVRGGQPL PHDSRLSMAQ 1510 1520 1530 1540 1550 1560 DGHIHRLFIH GVILADQGTY GCESHHDRTL ARLSVRPRQL RVLRPLEDVT ISEGGSATFQ 1570 1580 1590 1600 1610 1620 LELSQEGVTG EWARGGVQLY PGPKCHIHSD GHRHRLVLNG LGLADSGCVS FTADSLRCAA 1630 1640 1650 1660 1670 1680 RLIVREVPVT IVRGPHDLEV TEGDTATFEC ELSQALADVT WEKDGNALTP SPRLRLQALG 1690 1700 1710 1720 1730 1740 TRRLLQLRRC GPSDAGTYSC AVGTARAGPV RLTVRERTVA VLSELRSVSA REGDGATFEC 1750 1760 1770 1780 1790 1800 TVSEVETTGR WELGGRPLRP GARVRIRQEG KKHILVLSEL RAEDAGEVRF QAGPAQSLAL 1810 1820 1830 1840 1850 1860 LEVEALPLQM CRHPPREKTV LVGRRAVLEV TVSRSGGHVC WLREGAELCP GDKYEMRSHG 1870 1880 1890 PTHSLVIHDV RPEDQGTYCC QAGQDSTHTR LLVEGN
	Isoform 2 [UniParc]. Checksum: CAF2D3D8E1920335	FASTA	1,025	113,273
	10 20 30 40 50 60 MKASSGDQGS PPCFLRFPRP VRVVSGAEAE LKCVVLGEPP PVVVWEKGGQ QLAASERLSF 70 80 90 100 110 120 PADGAEHGLL LTAALPTDAG VYVCRARNAA GEAYAAAAVT VLEPPASDPE LQPAERPLPS 130 140 150 160 170 180 PGSGEGAPVF LTGPRSQWVL RGAEVVLTCR AGGLPEPTLY WEKDGMALDE VWDSSHFALQ 190 200 210 220 230 240 PGRAEDGPGA SLALRILAAR LPDSGVYVCH ARNAHGHAQA GALLQVHQPP ESPPADPDEA 250 260 270 280 290 300 PAPVVEPLKC APKTFWVNEG KHAKFRCYVM GKPEPEIEWH WEGRPLLPDR RRLMYRDRDG 310 320 330 340 350 360 GFVLKVLYCQ AKDRGLYVCA ARNSAGQTLS AVQLHVKEPR LRFTRPLQDV EGREHGIAVL 370 380 390 400 410 420 ECKVPNSRIP TAWFREDQRL LPCRKYEQIE EGTVRRLIIH RLKADDDGIY LCEMRGRVRT 430 440 450 460 470 480 VANVTVKGPI LKRLPRKLDV LEGENAVLLV ETLEAGVEGR WSRDGEELPV ICQSSSGHMH 490 500 510 520 530 540 ALVLPGVTRE DAGEVTFSLG NSRTTTLLRV KCVKHSPPGP PILAEMFKGH KNTVLLTWKP 550 560 570 580 590 600 PEPAPETPFI YRLERQEVGS EDWIQCFSIE KAGAVEVPGD CVPSEGDYRF RICTVSGHGR 610 620 630 640 650 660 SPHVVFHGSA HLVPTARLVA GLEDVQVYDG EDAVFSLDLS TIIQGTWFLN GEELKSNEPE 670 680 690 700 710 720 GQVEPGALRY RIEQKGLQHR LILHAVKHQD SGALVGFSCP GVQDSAALTI QESPVHILSP 730 740 750 760 770 780 QDRVSLTFTT SERVVLTCEL SRVDFPATWY KDGQKVEESE LLVVKMDGRK HRLILPEAKV 790 800 810 820 830 840 QDSGEFECRT EGVSAFFGVT VQDPPVHIVD PREHVFVHAI TSECVMLACE VDREDAPVRW 850 860 870 880 890 900 YKDGQEVEES DFVVLENEGP HRRLVLPATQ PSDGGEFQCV AGDECAYFTV TITDVSSWIV 910 920 930 940 950 960 YPSGKVYVAA VRLERVVLTC ELCRPWAEVR WTKDGEEVVE SPALLLQKED TVRRLVLPAV 970 980 990 1000 1010 1020 QLEDSGEYLC EIDDESASFT VTVTESYQSQ DSSNNNPELC VLLKKPKTRR LWSRFPPWRR TAGTE
	Isoform 3 [UniParc]. Checksum: 3AE3886DF8C0B8A8	FASTA	1,401	152,925
	10 20 30 40 50 60 MKASSGDQGS PPCFLRFPRP VRVVSGAEAE LKCVVLGEPP PVVVWEKGGQ QLAASERLSF 70 80 90 100 110 120 PADGAEHGLL LTAALPTDAG VYVCRARNAA GEAYAAAAVT VLEPPASDPE LQPAERPLPS 130 140 150 160 170 180 PGSGEGAPVF LTGPRSQWVL RGAEVVLTCR AGGLPEPTLY WEKDGMALDE VWDSSHFALQ 190 200 210 220 230 240 PGRAEDGPGA SLALRILAAR LPDSGVYVCH ARNAHGHAQA GALLQVHQPP ESPPADPDEA 250 260 270 280 290 300 PAPVVEPLKC APKTFWVNEG KHAKFRCYVM GKPEPEIEWH WEGRPLLPDR RRLMYRDRDG 310 320 330 340 350 360 GFVLKVLYCQ AKDRGLYVCA ARNSAGQTLS AVQLHVKEPR LRFTRPLQDV EGREHGIAVL 370 380 390 400 410 420 ECKVPNSRIP TAWFREDQRL LPCRKYEQIE EGTVRRLIIH RLKADDDGIY LCEMRGRVRT 430 440 450 460 470 480 VANVTVKGPI LKRLPRKLDV LEGENAVLLV ETLEAGVEGR WSRDGEELPV ICQSSSGHMH 490 500 510 520 530 540 ALVLPGVTRE DAGEVTFSLG NSRTTTLLRV KCVKHSPPGP PILAEMFKGH KNTVLLTWKP 550 560 570 580 590 600 PEPAPETPFI YRLERQEVGS EDWIQCFSIE KAGAVEVPGD CVPSEGDYRF RICTVSGHGR 610 620 630 640 650 660 SPHVVFHGSA HLVPTARLVA GLEDVQVYDG EDAVFSLDLS TIIQGTWFLN GEELKSNEPE 670 680 690 700 710 720 GQVEPGALRY RIEQKGLQHR LILHAVKHQD SGALVGFSCP GVQDSAALTI QESPVHILSP 730 740 750 760 770 780 QDRVSLTFTT SERVVLTCEL SRVDFPATWY KDGQKVEESE LLVVKMDGRK HRLILPEAKV 790 800 810 820 830 840 QDSGEFECRT EGVSAFFGVT VQDPPVHIVD PREHVFVHAI TSECVMLACE VDREDAPVRW 850 860 870 880 890 900 YKDGQEVEES DFVVLENEGP HRRLVLPATQ PSDGGEFQCV AGDECAYFTV TITDVSSWIV 910 920 930 940 950 960 YPSGKVYVAA VRLERVVLTC ELCRPWAEVR WTKDGEEVVE SPALLLQKED TVRRLVLPAV 970 980 990 1000 1010 1020 QLEDSGEYLC EIDDESASFT VTVTEPPVRI IYPRDEVTLI AVTLECVVLM CELSREDAPV 1030 1040 1050 1060 1070 1080 RWYKDGLEVE ESEALVLERD GPRCRLVLPA AQPEDGGEFV CDAGDDSAFF TVTVTEPPVQ 1090 1100 1110 1120 1130 1140 FLALETTPSP LCVAPGEPVV LSCELSRAGA PVVWSHNGRP VQEGEGLELH AEGPRRVLCI 1150 1160 1170 1180 1190 1200 QAAGPAHAGL YTCQSGAAPG APSLSFTVQV AEPPVRVVAP EAAQTRVRST PGGDLELVVH 1210 1220 1230 1240 1250 1260 LSGPGGPVRW YKDGERLASQ GRVQLEQAGA RQVLRVQGAR SGDAGEYLCD APQDSRIFLV 1270 1280 1290 1300 1310 1320 SVEEPLLVKL VSELTPLTVH EGDDATFRCE VSPPDADVTW LRNGAVVTPG PQRQSCCSYG 1330 1340 1350 1360 1370 1380 GCRMCGQRKA RTCVSKWRQA EWVQRGPCAG CEVGSPCPTT LACPWPRMGT STASSSMVSY 1390 1400 WPTRAPTAAR ATTIAPWPGS A

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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] (ISOFORM 1), 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]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-10, MASS SPECTROMETRY. 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]	"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.
[11]	"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.
[12]	"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.
[13]	"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.
[14]	"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.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

EF063638 mRNA. Translation: ABO42328.1.
AC009955 Genomic DNA. No translation available.
BC007201 mRNA. Translation: AAH07201.1. Different initiation.
AB014557 mRNA. Translation: BAA31632.2.

IPI

IPI00306305.
IPI00883737.
IPI00893234.

RefSeq

NP_001166879.1. NM_001173408.1.
NP_056126.1. NM_015311.2.

UniGene

Hs.526594.

3D structure databases

PDBe
RCSB PDB
PDBj

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	[»]

ProteinModelPortal

O75147.

SMR

O75147. Positions 8-103, 608-1074, 1277-1357.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-38340N.

IntAct

O75147. 6 interactions.

STRING

9606.ENSP00000385636.

PTM databases

PhosphoSite

O75147.

Proteomic databases

PaxDb

O75147.

PRIDE

O75147.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000373873; ENSP00000362980; ENSG00000124006.
ENST00000404537; ENSP00000385636; ENSG00000124006.

GeneID

23363.

KEGG

hsa:23363.

UCSC

uc002vmi.3. human.
uc010fwk.3. human.

Organism-specific databases

CTD

23363.

GeneCards

GC02M220415.

H-InvDB

HIX0002869.
HIX0161860.

HGNC

HGNC:29092. OBSL1.

HPA

HPA036404.

MIM

610991. gene.
612921. phenotype.

neXtProt

NX_O75147.

Orphanet

2616. 3M syndrome.

PharmGKB

PA142671235.

HUGE

Search...

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG12793.

HOGENOM

HOG000263472.

HOVERGEN

HBG082081.

OMA

ETSFIYR.

Gene expression databases

ArrayExpress

O75147.

Bgee

O75147.

CleanEx

HS_OBSL1.

Genevestigator

O75147.

GermOnline

ENSG00000124006. Homo sapiens.

Family and domain databases

Gene3D

2.60.40.10. 20 hits.

InterPro

IPR003961. Fibronectin_type3.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view]

Pfam

PF07679. I-set. 15 hits.
[Graphical view]

SMART

SM00060. FN3. 1 hit.
SM00409. IG. 12 hits.
SM00408. IGc2. 6 hits.
[Graphical view]

SUPFAM

SSF49265. FN_III-like. 1 hit.

PROSITE

PS50853. FN3. 1 hit.
PS50835. IG_LIKE. 14 hits.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

O75147.

GenomeRNAi

23363.

NextBio

45409.

SOURCE

Search...

Entry information

Entry name

OBSL1_HUMAN

Accession

Primary (citable) accession number: O75147
Secondary accession number(s): A4KVA5, Q96IW3

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 22, 2006
Last sequence update:	April 5, 2011
Last modified:	May 1, 2013
This is version 104 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.