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Aliases for OBSL1 Gene

Aliases for OBSL1 Gene

  • Obscurin-Like 1 2 3 5
  • EC 1.1.1.26 63
  • EC 2.7.4.6 63
  • KIAA0657 4

External Ids for OBSL1 Gene

Previous GeneCards Identifiers for OBSL1 Gene

  • GC02M220242
  • GC02M220124
  • GC02M220415
  • GC02M212268

Summaries for OBSL1 Gene

Entrez Gene Summary for OBSL1 Gene

  • 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]

GeneCards Summary for OBSL1 Gene

OBSL1 (Obscurin-Like 1) is a Protein Coding gene. Diseases associated with OBSL1 include 3-m syndrome 2 and 3-m syndrome, obsl1-related. GO annotations related to this gene include cytoskeletal adaptor activity. An important paralog of this gene is MYBPC2.

UniProtKB/Swiss-Prot for OBSL1 Gene

  • 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:24793695, PubMed:24793696). Acts as a regulator of the Cul7-RING(FBXW8) ubiquitin-protein ligase, playing a critical role in the ubiquitin ligase pathway that regulates Golgi morphogenesis and dendrite patterning in brain. Required to localize CUL7 to the Golgi apparatus in neurons.

Gene Wiki entry for OBSL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OBSL1 Gene

Genomics for OBSL1 Gene

Regulatory Elements for OBSL1 Gene

Promoters for OBSL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around OBSL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for OBSL1 Gene

Chromosome:
2
Start:
219,549,403 bp from pter
End:
219,571,859 bp from pter
Size:
22,457 bases
Orientation:
Minus strand

Genomic View for OBSL1 Gene

Genes around OBSL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OBSL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OBSL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OBSL1 Gene

Proteins for OBSL1 Gene

  • Protein details for OBSL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75147-OBSL1_HUMAN
    Recommended name:
    Obscurin-like protein 1
    Protein Accession:
    O75147
    Secondary Accessions:
    • A4KVA4
    • A4KVA5
    • Q96IW3
    • S4R3M6

    Protein attributes for OBSL1 Gene

    Size:
    1896 amino acids
    Molecular mass:
    206947 Da
    Quaternary structure:
    • Component of the 3M complex, composed of core components CUL7, CCDC8 and OBSL1. 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.
    SequenceCaution:
    • Sequence=AAH07201.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for OBSL1 Gene

    Alternative splice isoforms for OBSL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OBSL1 Gene

Proteomics data for OBSL1 Gene at MOPED

Selected DME Specific Peptides for OBSL1 Gene

Post-translational modifications for OBSL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for OBSL1 Gene

Protein Domains for OBSL1 Gene

Suggested Antigen Peptide Sequences for OBSL1 Gene

Graphical View of Domain Structure for InterPro Entry

O75147

UniProtKB/Swiss-Prot:

OBSL1_HUMAN :
  • Contains 1 fibronectin type-III domain.
Domain:
  • Contains 1 fibronectin type-III domain.
  • Contains 14 Ig-like (immunoglobulin-like) domains.
genes like me logo Genes that share domains with OBSL1: view

Function for OBSL1 Gene

Molecular function for OBSL1 Gene

UniProtKB/Swiss-Prot 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:24793695, PubMed:24793696). Acts as a regulator of the Cul7-RING(FBXW8) ubiquitin-protein ligase, playing a critical role in the ubiquitin ligase pathway that regulates Golgi morphogenesis and dendrite patterning in brain. Required to localize CUL7 to the Golgi apparatus in neurons.

Enzyme Numbers (IUBMB) for OBSL1 Gene

Phenotypes for OBSL1 Gene

genes like me logo Genes that share phenotypes with OBSL1: view

Human Phenotype Ontology for OBSL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for OBSL1

miRNA for OBSL1 Gene

miRTarBase miRNAs that target OBSL1

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for OBSL1 Gene

Localization for OBSL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OBSL1 Gene

Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, perinuclear region. Golgi apparatus. Note=Colocalizes with CUL7 at the Golgi apparatus in neurons (PubMed:21572988).

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OBSL1 Gene COMPARTMENTS Subcellular localization image for OBSL1 gene
Compartment Confidence
cytoskeleton 5
golgi apparatus 5
nucleus 3
plasma membrane 2
cytosol 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for OBSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 24793695
GO:0005813 centrosome IDA 24793695
genes like me logo Genes that share ontologies with OBSL1: view

Pathways & Interactions for OBSL1 Gene

SuperPathways for OBSL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for OBSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IMP 24793695
GO:0007088 regulation of mitotic nuclear division IMP 24793695
GO:0034067 protein localization to Golgi apparatus IMP 21572988
genes like me logo Genes that share ontologies with OBSL1: view

No data available for Pathways by source and SIGNOR curated interactions for OBSL1 Gene

Drugs & Compounds for OBSL1 Gene

No Compound Related Data Available

Transcripts for OBSL1 Gene

Unigene Clusters for OBSL1 Gene

Obscurin-like 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for OBSL1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14a · 14b ^
SP1: - - - - -
SP2: - -
SP3:
SP4: - -
SP5:
SP6: - - - - -
SP7: - -
SP8:
SP9: - -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

ExUns: 15a · 15b ^ 16a · 16b · 16c ^ 17a · 17b · 17c · 17d · 17e ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b ^ 23 ^ 24
SP1: - - - -
SP2:
SP3: - -
SP4:
SP5: - - -
SP6:
SP7:
SP8: - -
SP9: - -
SP10: - - - - -
SP11:
SP12:
SP13: - -
SP14: - -
SP15: -
SP16:
SP17:

Relevant External Links for OBSL1 Gene

GeneLoc Exon Structure for
OBSL1
ECgene alternative splicing isoforms for
OBSL1

Expression for OBSL1 Gene

mRNA expression in normal human tissues for OBSL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for OBSL1 Gene

This gene is overexpressed in Ovary (x6.5).

Protein differential expression in normal tissues from HIPED for OBSL1 Gene

This gene is overexpressed in Fetal heart (9.2) and Liver (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for OBSL1 Gene



SOURCE GeneReport for Unigene cluster for OBSL1 Gene Hs.526594

mRNA Expression by UniProt/SwissProt for OBSL1 Gene

O75147-OBSL1_HUMAN
Tissue specificity: Widely expressed, with predominant levels found in the heart.
genes like me logo Genes that share expression patterns with OBSL1: view

Protein tissue co-expression partners for OBSL1 Gene

Primer Products

In Situ Assay Products

Orthologs for OBSL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for OBSL1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia OBSL1 35
  • 88.57 (n)
  • 90.77 (a)
OBSL1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OBSL1 35
  • 89.01 (n)
  • 90.56 (a)
OBSL1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia OBSL1 35
  • 99.07 (n)
  • 98.73 (a)
OBSL1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Obsl1 35
  • 86.11 (n)
  • 88.61 (a)
oppossum
(Monodelphis domestica)
Mammalia OBSL1 36
  • 61 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Obsl1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OBSL1 36
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves OBSL1 35
  • 53.86 (n)
  • 40.16 (a)
OBSL1 36
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OBSL1 36
  • 45 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii obsl1a 35
  • 47.45 (n)
  • 38.21 (a)
obsl1a 36
  • 35 (a)
OneToMany
obsl1b 36
  • 22 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Unc-89 36
  • 9 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F21C10.7 36
  • 10 (a)
OneToMany
F54E2.4 36
  • 21 (a)
OneToMany
ketn-1 36
  • 8 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 5 (a)
OneToOne
Species with no ortholog for OBSL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for OBSL1 Gene

ENSEMBL:
Gene Tree for OBSL1 (if available)
TreeFam:
Gene Tree for OBSL1 (if available)

Paralogs for OBSL1 Gene

Paralogs for OBSL1 Gene

genes like me logo Genes that share paralogs with OBSL1: view

Variants for OBSL1 Gene

Sequence variations from dbSNP and Humsavar for OBSL1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs186209 -- 219,553,002(+) GCGGG(A/C)TAGGC reference, missense, stop-lost
rs188544 -- 219,553,651(+) CTCTA(G/T)GTCGT intron-variant, reference, missense
rs190986 -- 219,563,045(-) TCTCA(G/T)GCACT intron-variant
rs192760 -- 219,553,502(+) tatta(G/T)ctgtt intron-variant
rs1056908 -- 219,555,831(-) TAGAA(A/G)TCCAT intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for OBSL1 Gene

Variant ID Type Subtype PubMed ID
nsv520958 CNV Loss 19592680
dgv4438n71 CNV Loss 21882294
nsv875875 CNV Loss 21882294
nsv875876 CNV Loss 21882294
nsv834545 CNV Loss 17160897
nsv508887 CNV Insertion 20534489
esv2662450 CNV Deletion 23128226

Variation tolerance for OBSL1 Gene

Residual Variation Intolerance Score: 96.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.57; 95.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for OBSL1 Gene

HapMap Linkage Disequilibrium report
OBSL1
Human Gene Mutation Database (HGMD)
OBSL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OBSL1 Gene

Disorders for OBSL1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for OBSL1 Gene - From: OMIM, ClinVar, GeneTests, and DISEASES

Disorder Aliases PubMed IDs
3-m syndrome 2
  • 3m2
3-m syndrome, obsl1-related
  • 3-m syndrome 2
3-m syndrome 1
  • 3-m syndrome
dubowitz syndrome
  • dubowitz's syndrome
hydrocele
  • testicular hydrocele
- elite association - COSMIC cancer census association via MalaCards
Search OBSL1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

OBSL1_HUMAN
  • 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. {ECO:0000269 PubMed:19481195, ECO:0000269 PubMed:23018678}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for OBSL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OBSL1
genes like me logo Genes that share disorders with OBSL1: view

No data available for Genatlas for OBSL1 Gene

Publications for OBSL1 Gene

  1. 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. (PMID: 9734811) Ishikawa K. … Ohara O. (DNA Res. 1998) 2 3 4 67
  2. Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathies. (PMID: 18477606) Fukuzawa A. … Gautel M. (J. Cell. Sci. 2008) 3 23
  3. Obscurin-like 1, OBSL1, is a novel cytoskeletal protein related to obscurin. (PMID: 17289344) Geisler S.B. … Russell M.W. (Genomics 2007) 3 23
  4. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for OBSL1 Gene

Sources for OBSL1 Gene

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