OBSL1 (obscurin like cytoskeletal adaptor 1)

Gene

• Entrez ID: 23363
• Gene name: Obscurin like cytoskeletal adaptor 1
• Gene symbol: OBSL1
• Synonyms: -
• Chromosome: 2
• Chromosome location: 2q35
• Summary: Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal i

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs79295927	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs121918215	G>T	Pathogenic	Stop gained, coding sequence variant
rs121918216	G>A,C,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant, missense variant
rs146306059	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs149009269	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs201893489	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant, missense variant
rs760929207	ACCTTTGACTG>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs762334954	->T	Pathogenic	Frameshift variant, coding sequence variant
rs775172922	C>G	Likely-pathogenic	Intron variant
rs775865076	G>A	Pathogenic	Coding sequence variant, stop gained
rs780389591	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant
rs886041519	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057518716	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057518717	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant, genic downstream transcript variant
rs1335171880	CACGGTGCGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1449351602	G>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, intron variant
rs1553537027	ATGAGTCTGTGCTGCAGACCCTTCTGCTCTATACGGTACCGCAGGGCCCCAGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559155800	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1559155954	->A	Likely-pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT045633	hsa-miR-149-5p	CLASH	23622248
MIRT1201708	hsa-miR-1	CLIP-seq
MIRT1201709	hsa-miR-105	CLIP-seq
MIRT1201710	hsa-miR-1207-5p	CLIP-seq
MIRT1201711	hsa-miR-1302	CLIP-seq
MIRT1201712	hsa-miR-1321	CLIP-seq
MIRT1201713	hsa-miR-154	CLIP-seq
MIRT1201714	hsa-miR-206	CLIP-seq
MIRT1201715	hsa-miR-296-5p	CLIP-seq
MIRT1201716	hsa-miR-299-3p	CLIP-seq
MIRT1201717	hsa-miR-299-5p	CLIP-seq
MIRT1201718	hsa-miR-3125	CLIP-seq
MIRT1201719	hsa-miR-3150a-3p	CLIP-seq
MIRT1201720	hsa-miR-3175	CLIP-seq
MIRT1201721	hsa-miR-365	CLIP-seq
MIRT1201722	hsa-miR-3675-5p	CLIP-seq
MIRT1201723	hsa-miR-3689d	CLIP-seq
MIRT1201724	hsa-miR-3908	CLIP-seq
MIRT1201725	hsa-miR-3916	CLIP-seq
MIRT1201726	hsa-miR-4265	CLIP-seq
MIRT1201727	hsa-miR-4270	CLIP-seq
MIRT1201728	hsa-miR-4274	CLIP-seq
MIRT1201729	hsa-miR-4296	CLIP-seq
MIRT1201730	hsa-miR-4298	CLIP-seq
MIRT1201731	hsa-miR-4321	CLIP-seq
MIRT1201732	hsa-miR-4322	CLIP-seq
MIRT1201733	hsa-miR-4417	CLIP-seq
MIRT1201734	hsa-miR-4441	CLIP-seq
MIRT1201735	hsa-miR-4488	CLIP-seq
MIRT1201736	hsa-miR-4640-5p	CLIP-seq
MIRT1201737	hsa-miR-4648	CLIP-seq
MIRT1201738	hsa-miR-4667-5p	CLIP-seq
MIRT1201739	hsa-miR-4697-5p	CLIP-seq
MIRT1201740	hsa-miR-4700-5p	CLIP-seq
MIRT1201741	hsa-miR-4726-5p	CLIP-seq
MIRT1201742	hsa-miR-4736	CLIP-seq
MIRT1201743	hsa-miR-4739	CLIP-seq
MIRT1201744	hsa-miR-4756-5p	CLIP-seq
MIRT1201745	hsa-miR-4763-3p	CLIP-seq
MIRT1201746	hsa-miR-486-3p	CLIP-seq
MIRT1201747	hsa-miR-613	CLIP-seq
MIRT1201748	hsa-miR-622	CLIP-seq
MIRT1201749	hsa-miR-637	CLIP-seq
MIRT1201750	hsa-miR-888	CLIP-seq
MIRT1201751	hsa-miR-939	CLIP-seq
MIRT1201752	hsa-miR-561	CLIP-seq
MIRT2058216	hsa-miR-103b	CLIP-seq
MIRT2058217	hsa-miR-2861	CLIP-seq
MIRT2058218	hsa-miR-3126-5p	CLIP-seq
MIRT2058219	hsa-miR-3651	CLIP-seq
MIRT2058220	hsa-miR-4419a	CLIP-seq
MIRT2058221	hsa-miR-4436a	CLIP-seq
MIRT2058222	hsa-miR-4510	CLIP-seq
MIRT2058223	hsa-miR-508-5p	CLIP-seq
MIRT2058224	hsa-miR-544b	CLIP-seq
MIRT2058225	hsa-miR-665	CLIP-seq
MIRT1201708	hsa-miR-1	CLIP-seq
MIRT1201710	hsa-miR-1207-5p	CLIP-seq
MIRT1201711	hsa-miR-1302	CLIP-seq
MIRT1201712	hsa-miR-1321	CLIP-seq
MIRT1201714	hsa-miR-206	CLIP-seq
MIRT1201718	hsa-miR-3125	CLIP-seq
MIRT1201723	hsa-miR-3689d	CLIP-seq
MIRT1201724	hsa-miR-3908	CLIP-seq
MIRT1201725	hsa-miR-3916	CLIP-seq
MIRT1201727	hsa-miR-4270	CLIP-seq
MIRT1201730	hsa-miR-4298	CLIP-seq
MIRT1201734	hsa-miR-4441	CLIP-seq
MIRT1201737	hsa-miR-4648	CLIP-seq
MIRT1201742	hsa-miR-4736	CLIP-seq
MIRT1201743	hsa-miR-4739	CLIP-seq
MIRT1201744	hsa-miR-4756-5p	CLIP-seq
MIRT1201745	hsa-miR-4763-3p	CLIP-seq
MIRT1201747	hsa-miR-613	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IMP	24793695
GO:0005515	Function	Protein binding	IPI	20133654, 20489725, 21572988
GO:0005737	Component	Cytoplasm	IDA	24793695
GO:0005794	Component	Golgi apparatus	IDA	21572988
GO:0005813	Component	Centrosome	IDA	24793695
GO:0005829	Component	Cytosol	TAS
GO:0007010	Process	Cytoskeleton organization	NAS	17289344
GO:0007030	Process	Golgi organization	IMP	21572988
GO:0007088	Process	Regulation of mitotic nuclear division	IMP	24793695
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IBA	21873635
GO:0007416	Process	Synapse assembly	IBA	21873635
GO:0008093	Function	Cytoskeletal anchor activity	NAS	17289344
GO:0010842	Process	Retina layer formation	IBA	21873635
GO:0014704	Component	Intercalated disc	TAS	17289344
GO:0030018	Component	Z disc	TAS	17289344
GO:0031430	Component	M band	TAS	17289344
GO:0034067	Process	Protein localization to Golgi apparatus	IMP	21572988
GO:0043687	Process	Post-translational protein modification	TAS
GO:0045202	Component	Synapse	IBA	21873635
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	21572988
GO:0048471	Component	Perinuclear region of cytoplasm	TAS	17289344
GO:0050775	Process	Positive regulation of dendrite morphogenesis	IMP	21572988
GO:0055003	Process	Cardiac myofibril assembly	NAS	17289344
GO:1990393	Component	3M complex	IDA	24793695

Other IDs

• MIM: 610991
• HGNC: 29092
• e!Ensembl: ENSG00000124006

Protein

• UniProt ID: O75147
• Protein name: Obscurin-like protein 1
• Protein function: 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:247936
• PDB: 2CPC, 2E6P, 2E6Q, 2LU7, 2LVC, 2WP3, 2WWK, 2WWM, 3KNB, 5FM5
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07679	I-set	12 → 101	Immunoglobulin I-set domain	Domain
  PF07679	I-set	128 → 226	Immunoglobulin I-set domain	Domain
  PF07679	I-set	248 → 336	Immunoglobulin I-set domain	Domain
  PF07679	I-set	341 → 426	Immunoglobulin I-set domain	Domain
  PF07679	I-set	720 → 795	Immunoglobulin I-set domain	Domain
  PF07679	I-set	813 → 893	Immunoglobulin I-set domain	Domain
  PF07679	I-set	908 → 984	Immunoglobulin I-set domain	Domain
  PF13927	Ig_3	1077 → 1157		Domain
  PF07679	I-set	1174 → 1262	Immunoglobulin I-set domain	Domain
  PF07679	I-set	1273 → 1348	Immunoglobulin I-set domain	Domain
  PF07679	I-set	1360 → 1445	Immunoglobulin I-set domain	Domain
  PF07679	I-set	1449 → 1529	Immunoglobulin I-set domain	Domain
  PF07679	I-set	1629 → 1715	Immunoglobulin I-set domain	Domain
  PF07679	I-set	1719 → 1796	Immunoglobulin I-set domain	Domain
  PF07679	I-set	1809 → 1892	Immunoglobulin I-set domain	Domain

• Sequence:

  MKASSGDQGSPPCFLRFPRPVRVVSGAEAELKCVVLGEPPPVVVWEKGGQQLAASERLSF
  PADGAEHGLLLTAALPTDAGVYVCRARNAAGEAYAAAAVTVLEPPASDPELQPAERPLPS
  PGSGEGAPVFLTGPRSQWVLRGAEVVLTCRAGGLPEPTLYWEKDGMALDEVWDSSHFALQ
  PGRAEDGPGASLALRILAARLPDSGVYVCHARNAHGHAQAGALLQVHQPPESPPADPDEA
  PAPVVEPLKCAPKTFWVNEGKHAKFRCYVMGKPEPEIEWHWEGRPLLPDRRRLMYRDRDG
  GFVLKVLYCQAKDRGLYVCAARNSAGQTLSAVQLHVKEPRLRFTRPLQDVEGREHGIAVL
  ECKVPNSRIPTAWFREDQRLLPCRKYEQIEEGTVRRLIIHRLKADDDGIYLCEMRGRVRT
  VANVTVKGPILKRLPRKLDVLEGENAVLLVETLEAGVEGRWSRDGEELPVICQSSSGHMH
  ALVLPGVTREDAGEVTFSLGNSRTTTLLRVKCVKHSPPGPPILAEMFKGHKNTVLLTWKP
  PEPAPETPFIYRLERQEVGSEDWIQCFSIEKAGAVEVPGDCVPSEGDYRFRICTVSGHGR
  SPHVVFHGSAHLVPTARLVAGLEDVQVYDGEDAVFSLDLSTIIQGTWFLNGEELKSNEPE
  GQVEPGALRYRIEQKGLQHRLILHAVKHQDSGALVGFSCPGVQDSAALTIQESPVHILSP
  QDRVSLTFTTSERVVLTCELSRVDFPATWYKDGQKVEESELLVVKMDGRKHRLILPEAKV
  QDSGEFECRTEGVSAFFGVTVQDPPVHIVDPREHVFVHAITSECVMLACEVDREDAPVRW
  YKDGQEVEESDFVVLENEGPHRRLVLPATQPSDGGEFQCVAGDECAYFTVTITDVSSWIV
  YPSGKVYVAAVRLERVVLTCELCRPWAEVRWTKDGEEVVESPALLLQKEDTVRRLVLPAV
  QLEDSGEYLCEIDDESASFTVTVTEPPVRIIYPRDEVTLIAVTLECVVLMCELSREDAPV
  RWYKDGLEVEESEALVLERDGPRCRLVLPAAQPEDGGEFVCDAGDDSAFFTVTVTAPPER
  IVHPAARSLDLHFGAPGRVELRCEVAPAGSQVRWYKDGLEVEASDALQLGAEGPTRTLTL
  PHAQPEDAGEYVCETRHEAITFNVILAEPPVQFLALETTPSPLCVAPGEPVVLSCELSRA
  GAPVVWSHNGRPVQEGEGLELHAEGPRRVLCIQAAGPAHAGLYTCQSGAAPGAPSLSFTV
  QVAEPPVRVVAPEAAQTRVRSTPGGDLELVVHLSGPGGPVRWYKDGERLASQGRVQLEQA
  GARQVLRVQGARSGDAGEYLCDAPQDSRIFLVSVEEPLLVKLVSELTPLTVHEGDDATFR
  CEVSPPDADVTWLRNGAVVTPGPQVEMAQNGSSRILTLRGCQLGDAGTVTLRAGSTATSA
  RLHVRETELLFLRRLQDVRAEEGQDVCLEVETGRVGAAGAVRWVRGGQPLPHDSRLSMAQ
  DGHIHRLFIHGVILADQGTYGCESHHDRTLARLSVRPRQLRVLRPLEDVTISEGGSATFQ
  LELSQEGVTGEWARGGVQLYPGPKCHIHSDGHRHRLVLNGLGLADSGCVSFTADSLRCAA
  RLIVREVPVTIVRGPHDLEVTEGDTATFECELSQALADVTWEKDGNALTPSPRLRLQALG
  TRRLLQLRRCGPSDAGTYSCAVGTARAGPVRLTVRERTVAVLSELRSVSAREGDGATFEC
  TVSEVETTGRWELGGRPLRPGARVRIRQEGKKHILVLSELRAEDAGEVRFQAGPAQSLAL
  LEVEALPLQMCRHPPREKTVLVGRRAVLEVTVSRSGGHVCWLREGAELCPGDKYEMRSHG
  PTHSLVIHDVRPEDQGTYCCQAGQDSTHTRLLVEGN

• Sequence length: 1896

Pathways

Reactome:

Neddylation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
3m syndrome	Miller-McKusick-Malvaux-Syndrome (3M Syndrome), Three M Syndrome 2, 3M syndrome	rs121918215, rs1335171880, rs121918216, rs121918228, rs121918229, rs730880261, rs730880262, rs730880263, rs752254407, rs1568590155, rs201406974, rs786205651, rs61752334, rs762334954, rs749509661, rs864309521, rs886042376, rs748555538, rs1057518716, rs1064792895, rs775865076, rs1554138553, rs746333044, rs1553538488, rs760910667, rs1561875767, rs1561892336, rs1561898352, rs760929207, rs1559155954, rs1561873941, rs1561881909, rs1559160379, rs1023630527, rs766471384, rs1581962986, rs1581930130, rs773698181	30980518, 19877176, 25923536, 19481195, 21737058
Macrocephaly	Relative macrocephaly	rs786204854, rs764333096, rs1557739557
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease name	Disease term	dbSNP ID	References
Camptodactyly of fingers	Clinodactyly of the 5th finger		30980518
Developmental dysplasia of the hip	Congenital Dysplasia Of The Hip
Dolichocephaly	Long narrow head		30980518
Dwarfism	Dwarfism
Frontal bossing	Frontal bossing		30980518
High palate	Byzanthine arch palate
Hypospadias	Hypospadias
Micromelia	Micromelia
Vertical talus	Vertical Talus