Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23363
Gene name	Obscurin like cytoskeletal adaptor 1
Gene symbol	OBSL1
Synonyms (NCBI Gene)	-
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

Show/Hide all (19)

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

Show/Hide all (74)

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

Show/Hide all (26)

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:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA	21572988
GO:0005794	Component	Golgi apparatus	IEA
GO:0005813	Component	Centrosome	IDA	24793695
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0007010	Process	Cytoskeleton organization	NAS	17289344
GO:0007030	Process	Golgi organization	IEA
GO:0007030	Process	Golgi organization	IMP	21572988
GO:0007088	Process	Regulation of mitotic nuclear division	IMP	24793695
GO:0008093	Function	Cytoskeletal anchor activity	NAS	17289344
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:0048471	Component	Perinuclear region of cytoplasm	IDA	21572988
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	TAS	17289344
GO:0050775	Process	Positive regulation of dendrite morphogenesis	IEA
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

MIM	HGNC	e!Ensembl
610991	29092	ENSG00000124006

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

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with predominant levels found in the heart. {ECO:0000269|PubMed:17289344}.

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

Interactions

View interactions

	Reactome
			Neddylation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
3M syndrome 1	Likely pathogenic; Pathogenic	rs760929207, rs1559155954	RCV000778117 RCV000778119	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
3M syndrome 2	Pathogenic; Likely pathogenic	rs1696816233, rs2106028466, rs767237510, rs1396471922, rs121918215, rs1335171880, rs121918216, rs2106102918, rs1292663596, rs2546295090, rs2469091008, rs762334954, rs2546180341, rs776873731, rs2469065805 View all (9 more)	RCV001619767 RCV001782545 RCV001807905 RCV005017016 RCV000001101 View all (19 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
OBSL1-related disorder	Pathogenic; Likely pathogenic	rs767237510, rs2546247239, rs2469105576, rs2469101147	RCV003426198 RCV003394496 RCV003414324 RCV003408472	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short stature	Likely pathogenic	rs1553538488	RCV000626927	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
3-M syndrome	Benign; Uncertain significance; Likely benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MILLER-MCKUSICK-MALVAUX-SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic short stature	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THREE M SYNDROME 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THREE M SYNDROME 2	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THREE M SYNDROME 3	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (33)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
3M syndrome	3M Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	CLINVAR_DG	30980518		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	23457316, 27796265		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	37780995	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	CLINVAR_DG	30980518		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	21737058, 24711643, 24793695, 27796265, 33107243, 37780995	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	37780995	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	37780995	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipodystrophy Congenital Generalized	Lipodystrophy	Pubtator	32349771	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	CLINVAR_DG	30980518		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Miller-McKusick-Malvaux-Syndrome (3M Syndrome)	3M Syndrome	BEFREE	19481195, 19877176, 21166787, 21396581, 21548126, 21737058, 23457316, 25923536, 26488604, 27796265		★★★★★ ★☆☆☆☆ Found in Text Mining only
Miller-McKusick-Malvaux-Syndrome (3M Syndrome)	3M Syndrome	CLINVAR_DG	30980518		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	LHGDN	18477606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	LHGDN	18477606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	20133654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Relative macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	25411237		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	23517720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Three M Syndrome 2	3M Syndrome	CLINVAR_DG	19481195, 19877176, 25923536		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Three M Syndrome 2	3M Syndrome	GENOMICS_ENGLAND_DG	19481195, 21737058		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Three M Syndrome 2	3M Syndrome	BEFREE	25923536		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Three M Syndrome 2	3m syndrome	Pubtator	37780995	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Three M Syndrome 2	3M Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vertical Talus	Vertical Talus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

OBSL1 (obscurin like cytoskeletal adaptor 1)