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OBSL1 obscurin like 1 [ Homo sapiens (human) ]

Gene ID: 23363, updated on 9-Dec-2018

Summary

Official Symbol
OBSL1provided by HGNC
Official Full Name
obscurin like 1provided by HGNC
Primary source
HGNC:HGNC:29092
See related
Ensembl:ENSG00000124006 MIM:610991
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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 immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010]
Expression
Broad expression in ovary (RPKM 37.4), testis (RPKM 15.3) and 19 other tissues See more
Orthologs

Genomic context

See OBSL1 in Genome Data Viewer
Location:
2q35
Exon count:
23
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (219549408..219571573, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (220415450..220436357, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene chondroitin polymerizing factor Neighboring gene transmembrane protein 198 Neighboring gene microRNA 3132 Neighboring gene inhibin subunit alpha Neighboring gene RNA, 7SK small nuclear pseudogene 213

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0657, MGC71026

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeletal adaptor activity NAS
Non-traceable Author Statement
more info
PubMed 
muscle alpha-actinin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of muscle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
Golgi organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac muscle fiber development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cardiac muscle tissue morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cardiac myofibril assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cardiac myofibril assembly NAS
Non-traceable Author Statement
more info
PubMed 
cytoskeleton organization NAS
Non-traceable Author Statement
more info
PubMed 
microtubule cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of dendrite morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein localization to Golgi apparatus IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of mitotic nuclear division IMP
Inferred from Mutant Phenotype
more info
PubMed 
sarcomere organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
skeletal muscle myosin thick filament assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
skeletal muscle thin filament assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
striated muscle myosin thick filament assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
3M complex IDA
Inferred from Direct Assay
more info
PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
M band IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
M band TAS
Traceable Author Statement
more info
PubMed 
Z disc IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Z disc TAS
Traceable Author Statement
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
intercalated disc TAS
Traceable Author Statement
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm TAS
Traceable Author Statement
more info
PubMed 
sarcomere IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
striated muscle thin filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
obscurin-like protein 1
NP_001166879.1
NP_001166902.1
NP_056126.1
XP_011509159.1
XP_011509165.1
XP_011509166.1
XP_011509167.1
XP_011509168.1
XP_016859185.1
XP_016859186.1
XP_016859187.1
XP_016859188.1
XP_016859189.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016977.1 RefSeqGene

    Range
    5001..25819
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001173408.1NP_001166879.1  obscurin-like protein 1 isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks multiple 3' exons but has an alternate 3' exon, as compared to variant 1. The resulting isoform (3, also known as isoform B) is much shorter and has a different C-terminus, as compared to isoform 1.
    Source sequence(s)
    AF035292, CK904385, DB475523, EF063638
    Consensus CDS
    CCDS54433.1
    UniProtKB/Swiss-Prot
    O75147
    Related
    ENSP00000362980.4, ENST00000373873.8
    Conserved Domains (6) summary
    cd00096
    Location:916984
    Ig; Immunoglobulin domain
    smart00408
    Location:142216
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:134226
    IG_like; Immunoglobulin like
    cd00063
    Location:518602
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:342426
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:252336
    Ig; Immunoglobulin domain
  2. NM_001173431.1NP_001166902.1  obscurin-like protein 1 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks multiple 3' exons but has an alternate 3' sequence, as compared to variant 1. The resulting isoform (2, also known as isoform C) is shorter and has a different C-terminus, as compared to isoform 1.
    Source sequence(s)
    AK023854, CK904385, DB475523, EF063637
    Consensus CDS
    CCDS63134.1
    UniProtKB/Swiss-Prot
    O75147
    UniProtKB/TrEMBL
    Q9H8B3
    Related
    ENSP00000474519.1, ENST00000603926.5
    Conserved Domains (9) summary
    cd00096
    Location:916984
    Ig; Immunoglobulin domain
    cd04979
    Location:11781267
    Ig_Semaphorin_C; Immunoglobulin (Ig)-like domain of semaphorin
    smart00408
    Location:142216
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:14561535
    IG; Immunoglobulin
    smart00410
    Location:134226
    IG_like; Immunoglobulin like
    cd00063
    Location:518602
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:13611444
    I-set; Immunoglobulin I-set domain
    pfam00047
    Location:13641430
    ig; Immunoglobulin domain
    cl11960
    Location:252336
    Ig; Immunoglobulin domain
  3. NM_015311.3NP_056126.1  obscurin-like protein 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_056126.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longest transcript and encodes the longest isoform (1, also known as isoform A).
    Source sequence(s)
    CK904385, DB475523, EF063638, F30329
    Consensus CDS
    CCDS46520.1
    UniProtKB/Swiss-Prot
    O75147
    Related
    ENSP00000385636.1, ENST00000404537.5
    Conserved Domains (9) summary
    cd00096
    Location:916984
    Ig; Immunoglobulin domain
    cd04979
    Location:11781267
    Ig_Semaphorin_C; Immunoglobulin (Ig)-like domain of semaphorin
    smart00408
    Location:142216
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:134226
    IG; Immunoglobulin
    smart00410
    Location:18151893
    IG_like; Immunoglobulin like
    cd00063
    Location:518602
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:13611444
    I-set; Immunoglobulin I-set domain
    pfam00047
    Location:13641430
    ig; Immunoglobulin domain
    cl11960
    Location:252336
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    219549408..219571573 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510857.2XP_011509159.1  obscurin-like protein 1 isoform X1

    Conserved Domains (9) summary
    cd00096
    Location:916984
    Ig; Immunoglobulin domain
    cd04979
    Location:11781267
    Ig_Semaphorin_C; Immunoglobulin (Ig)-like domain of semaphorin
    smart00408
    Location:142216
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:134226
    IG; Immunoglobulin
    smart00410
    Location:18151893
    IG_like; Immunoglobulin like
    cd00063
    Location:518602
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:13611444
    I-set; Immunoglobulin I-set domain
    pfam00047
    Location:13641430
    ig; Immunoglobulin domain
    cl11960
    Location:252336
    Ig; Immunoglobulin domain
  2. XM_017003699.1XP_016859188.1  obscurin-like protein 1 isoform X5

  3. XM_017003698.1XP_016859187.1  obscurin-like protein 1 isoform X4

  4. XM_017003700.1XP_016859189.1  obscurin-like protein 1 isoform X6

  5. XM_017003697.2XP_016859186.1  obscurin-like protein 1 isoform X3

  6. XM_017003696.2XP_016859185.1  obscurin-like protein 1 isoform X2

  7. XM_011510863.3XP_011509165.1  obscurin-like protein 1 isoform X7

    Conserved Domains (9) summary
    cd00096
    Location:916984
    Ig; Immunoglobulin domain
    cd04979
    Location:11781267
    Ig_Semaphorin_C; Immunoglobulin (Ig)-like domain of semaphorin
    smart00408
    Location:142216
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:14561535
    IG; Immunoglobulin
    smart00410
    Location:134226
    IG_like; Immunoglobulin like
    cd00063
    Location:518602
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:13611444
    I-set; Immunoglobulin I-set domain
    pfam00047
    Location:13641430
    ig; Immunoglobulin domain
    cl11960
    Location:252336
    Ig; Immunoglobulin domain
  8. XM_011510865.2XP_011509167.1  obscurin-like protein 1 isoform X8

    See identical proteins and their annotated locations for XP_011509167.1

    Conserved Domains (8) summary
    cd00096
    Location:263333
    Ig; Immunoglobulin domain
    cd04979
    Location:11781267
    Ig_Semaphorin_C; Immunoglobulin (Ig)-like domain of semaphorin
    smart00408
    Location:142216
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:10051074
    IG; Immunoglobulin
    smart00410
    Location:134226
    IG_like; Immunoglobulin like
    cd00063
    Location:518602
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:342426
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:13641404
    Ig; Immunoglobulin domain
  9. XM_011510864.2XP_011509166.1  obscurin-like protein 1 isoform X8

    See identical proteins and their annotated locations for XP_011509166.1

    Conserved Domains (8) summary
    cd00096
    Location:263333
    Ig; Immunoglobulin domain
    cd04979
    Location:11781267
    Ig_Semaphorin_C; Immunoglobulin (Ig)-like domain of semaphorin
    smart00408
    Location:142216
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:10051074
    IG; Immunoglobulin
    smart00410
    Location:134226
    IG_like; Immunoglobulin like
    cd00063
    Location:518602
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:342426
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:13641404
    Ig; Immunoglobulin domain
  10. XM_011510866.2XP_011509168.1  obscurin-like protein 1 isoform X9

    Conserved Domains (8) summary
    cd00096
    Location:263333
    Ig; Immunoglobulin domain
    cd04979
    Location:10861175
    Ig_Semaphorin_C; Immunoglobulin (Ig)-like domain of semaphorin
    smart00408
    Location:142216
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:11901251
    IG; Immunoglobulin
    smart00410
    Location:134226
    IG_like; Immunoglobulin like
    cd00063
    Location:518602
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:342426
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:12721312
    Ig; Immunoglobulin domain
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