• Gene id: 23363

Gene Summary

• Gene Symbol: OBSL1   Gene   UCSC   Ensembl
• Gene name: obscurin like cytoskeletal adaptor 1
• Alternate names: obscurin-like protein 1, obscurin like 1,
• Gene location: 2q35 (219571572: 219549407)     Exons: 23     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 610991

Protein Summary

• Protein general information: O75147  
  • Name: Obscurin like protein 1
  • Length: 1896  
  • Mass: 206947
  • Tissue specificity: Widely expressed, with predominant levels found in the heart. {ECO
• Sequence:

  MKASSGDQGSPPCFLRFPRPVRVVSGAEAELKCVVLGEPPPVVVWEKGGQQLAASERLSFPADGAEHGLLLTAAL
  PTDAGVYVCRARNAAGEAYAAAAVTVLEPPASDPELQPAERPLPSPGSGEGAPVFLTGPRSQWVLRGAEVVLTCR
  AGGLPEPTLYWEKDGMALDEVWDSSHFALQPGRAEDGPGASLALRILAARLPDSGVYVCHARNAHGHAQAGALLQ
  VHQPPESPPADPDEAPAPVVEPLKCAPKTFWVNEGKHAKFRCYVMGKPEPEIEWHWEGRPLLPDRRRLMYRDRDG
  GFVLKVLYCQAKDRGLYVCAARNSAGQTLSAVQLHVKEPRLRFTRPLQDVEGREHGIAVLECKVPNSRIPTAWFR
  EDQRLLPCRKYEQIEEGTVRRLIIHRLKADDDGIYLCEMRGRVRTVANVTVKGPILKRLPRKLDVLEGENAVLLV
  ETLEAGVEGRWSRDGEELPVICQSSSGHMHALVLPGVTREDAGEVTFSLGNSRTTTLLRVKCVKHSPPGPPILAE
  MFKGHKNTVLLTWKPPEPAPETPFIYRLERQEVGSEDWIQCFSIEKAGAVEVPGDCVPSEGDYRFRICTVSGHGR
  SPHVVFHGSAHLVPTARLVAGLEDVQVYDGEDAVFSLDLSTIIQGTWFLNGEELKSNEPEGQVEPGALRYRIEQK
  GLQHRLILHAVKHQDSGALVGFSCPGVQDSAALTIQESPVHILSPQDRVSLTFTTSERVVLTCELSRVDFPATWY
  KDGQKVEESELLVVKMDGRKHRLILPEAKVQDSGEFECRTEGVSAFFGVTVQDPPVHIVDPREHVFVHAITSECV
  MLACEVDREDAPVRWYKDGQEVEESDFVVLENEGPHRRLVLPATQPSDGGEFQCVAGDECAYFTVTITDVSSWIV
  YPSGKVYVAAVRLERVVLTCELCRPWAEVRWTKDGEEVVESPALLLQKEDTVRRLVLPAVQLEDSGEYLCEIDDE
  SASFTVTVTEPPVRIIYPRDEVTLIAVTLECVVLMCELSREDAPVRWYKDGLEVEESEALVLERDGPRCRLVLPA
  AQPEDGGEFVCDAGDDSAFFTVTVTAPPERIVHPAARSLDLHFGAPGRVELRCEVAPAGSQVRWYKDGLEVEASD
  ALQLGAEGPTRTLTLPHAQPEDAGEYVCETRHEAITFNVILAEPPVQFLALETTPSPLCVAPGEPVVLSCELSRA
  GAPVVWSHNGRPVQEGEGLELHAEGPRRVLCIQAAGPAHAGLYTCQSGAAPGAPSLSFTVQVAEPPVRVVAPEAA
  QTRVRSTPGGDLELVVHLSGPGGPVRWYKDGERLASQGRVQLEQAGARQVLRVQGARSGDAGEYLCDAPQDSRIF
  LVSVEEPLLVKLVSELTPLTVHEGDDATFRCEVSPPDADVTWLRNGAVVTPGPQVEMAQNGSSRILTLRGCQLGD
  AGTVTLRAGSTATSARLHVRETELLFLRRLQDVRAEEGQDVCLEVETGRVGAAGAVRWVRGGQPLPHDSRLSMAQ
  DGHIHRLFIHGVILADQGTYGCESHHDRTLARLSVRPRQLRVLRPLEDVTISEGGSATFQLELSQEGVTGEWARG
  GVQLYPGPKCHIHSDGHRHRLVLNGLGLADSGCVSFTADSLRCAARLIVREVPVTIVRGPHDLEVTEGDTATFEC
  ELSQALADVTWEKDGNALTPSPRLRLQALGTRRLLQLRRCGPSDAGTYSCAVGTARAGPVRLTVRERTVAVLSEL
  RSVSAREGDGATFECTVSEVETTGRWELGGRPLRPGARVRIRQEGKKHILVLSELRAEDAGEVRFQAGPAQSLAL
  LEVEALPLQMCRHPPREKTVLVGRRAVLEVTVSRSGGHVCWLREGAELCPGDKYEMRSHGPTHSLVIHDVRPEDQ
  GTYCCQAGQDSTHTRLLVEGN

• Structural information:
  • Protein Domains: (12..10-)
    (/note="Ig-like-1)
    (128..22-)
    (/note="Ig-like-2)
    (243..33-)
    (/note="Ig-like-3)
    (339..42-)
    (/note="Ig-like-4)
    (517..61-)
    (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316-)
    (71-)
  • Interpro: IPR003961  IPR036116  IPR007110  IPR036179  IPR013783   IPR013098  IPR003599  IPR003598  
  • Prosite: PS50853 PS50835
  • CDD: cd00063
  • PDB: 2CPC 2E6P 2E6Q 2LU7 2LVC 2WP3 2WWK 2WWM 3KNB 5FM5
  • PDBsum: 2CPC 2E6P 2E6Q 2LU7 2LVC 2WP3 2WWK 2WWM 3KNB 5FM5
  • DIP: 38340
  • STRING: ENSP00000385636
• Other Databases: GeneCards:  OBSL1  Malacards:  OBSL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005813	centrosome	IDA	cellular component
GO:1990393	3M complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0000226	microtubule cytoskeleton organization	IMP	biological process
GO:0007088	regulation of mitotic nuclear division	IMP	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050775	positive regulation of dendrite morphogenesis	IEA	biological process
GO:0007030	Golgi organization	IEA	biological process
GO:0008093	cytoskeletal anchor activity	NAS	molecular function
GO:0007010	cytoskeleton organization	NAS	biological process
GO:0014704	intercalated disc	TAS	cellular component
GO:0048471	perinuclear region of cytoplasm	TAS	cellular component
GO:0055003	cardiac myofibril assembly	NAS	biological process
GO:0030018	Z disc	TAS	cellular component
GO:0031430	M band	TAS	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0050775	positive regulation of dendrite morphogenesis	IMP	biological process
GO:0034067	protein localization to Golgi apparatus	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0007030	Golgi organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
3M syndrome	KEGG:H00509
3M syndrome	KEGG:H00509
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq