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Aliases for OBSL1 Gene

Aliases for OBSL1 Gene

  • Obscurin Like 1 2 3 5
  • Obscurin-Like Protein 1 3
  • 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 Three M Syndrome 2 and Three M Syndrome 1. Gene Ontology (GO) annotations related to this gene include cytoskeletal adaptor activity. An important paralog of this gene is OBSCN.

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

Additional gene information for OBSL1 Gene

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

Genomics for OBSL1 Gene

GeneHancer (GH) Regulatory Elements for OBSL1 Gene

Promoters and enhancers for OBSL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J219569 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 659.7 +0.3 328 4 PKNOX1 CLOCK FOXA2 ARNT ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 INHA OBSL1 ZNF142 NHEJ1 SLC23A3 RNF25 STK36 STK11IP GLB1L CNPPD1
GH02J219541 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 17.8 +27.7 27670 5.1 MLX DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 CHPF TMEM198 ASIC4 OBSL1 INHA ENSG00000268896
GH02J219397 Enhancer 1.3 Ensembl ENCODE dbSUPER 22.9 +172.8 172831 3.7 PKNOX1 ATF1 FOXA2 FEZF1 YY1 ATF7 FOS RXRA REST ZNF592 DNPEP OBSL1 ENSG00000269068 ENSG00000268896 ENSG00000227432 ASIC4 ENSG00000268603 SPEG GMPPA TMEM198
GH02J219277 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.4 +292.2 292226 4.5 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF143 SP3 NFYC DNAJB2 TUBA4A PIR48822 GC02P219281 NHEJ1 USP37 PTPRN DNPEP CNPPD1 OBSL1
GH02J218908 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 14.4 +662.3 662261 2.4 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B CNOT9 STK36 ZNF142 USP37 AAMP OBSL1 NHEJ1 CDK5R2 ENSG00000235024 ENSG00000269068
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OBSL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the OBSL1 gene promoter:
  • p53
  • GATA-1
  • GATA-6
  • Pax-5
  • E47
  • GATA-2
  • GR
  • GR-alpha
  • GR-beta

Genomic Locations for OBSL1 Gene

Genomic Locations for OBSL1 Gene
chr2:219,549,403-219,571,859
(GRCh38/hg38)
Size:
22,457 bases
Orientation:
Minus strand
chr2:220,415,450-220,436,581
(GRCh37/hg19)
Size:
21,132 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

Post-translational modifications for OBSL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for OBSL1 Gene

Domains & Families for OBSL1 Gene

Gene Families for OBSL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for OBSL1 Gene

Suggested Antigen Peptide Sequences for OBSL1 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for OBSL1 Gene

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.

Phenotypes From GWAS Catalog for OBSL1 Gene

Gene Ontology (GO) - Molecular Function for OBSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 20133654
GO:0008093 cytoskeletal adaptor activity NAS 17289344
GO:0008307 structural constituent of muscle IBA --
GO:0051015 actin filament binding IBA --
GO:0051371 muscle alpha-actinin binding IBA --
genes like me logo Genes that share ontologies with OBSL1: view
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

CRISPR Products

miRNA for OBSL1 Gene

miRTarBase miRNAs that target OBSL1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OBSL1

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OBSL1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
golgi apparatus 5
nucleus 3
plasma membrane 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for OBSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 24793695
GO:0005794 Golgi apparatus IDA,IEA 21572988
GO:0005813 centrosome IDA 24793695
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol TAS --
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:0006941 striated muscle contraction IBA --
GO:0007010 cytoskeleton organization NAS 17289344
GO:0007015 actin filament organization IBA --
GO:0007030 Golgi organization 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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OBSL1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for OBSL1 Gene



Protein tissue co-expression partners for OBSL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of OBSL1 Gene:

OBSL1

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.

Evidence on tissue expression from TISSUES for OBSL1 Gene

  • Heart(5)
  • Nervous system(4.8)
  • Muscle(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for OBSL1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
  • penis
  • testicle
  • urethra
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with OBSL1: view

Orthologs for OBSL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for OBSL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OBSL1 34 33
  • 99.07 (n)
OneToOne
dog
(Canis familiaris)
Mammalia OBSL1 34 33
  • 89.01 (n)
OneToOne
cow
(Bos Taurus)
Mammalia OBSL1 34 33
  • 88.57 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Obsl1 34
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Obsl1 33
  • 86.11 (n)
oppossum
(Monodelphis domestica)
Mammalia OBSL1 34
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OBSL1 34
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves OBSL1 34 33
  • 53.86 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OBSL1 34
  • 45 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii obsl1a 34 33
  • 47.45 (n)
OneToMany
obsl1b 34
  • 22 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Unc-89 34
  • 9 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F54E2.4 34
  • 21 (a)
OneToMany
F21C10.7 34
  • 10 (a)
OneToMany
ketn-1 34
  • 8 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 5 (a)
OneToOne
Species where no ortholog for OBSL1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for OBSL1: view image

Paralogs for OBSL1 Gene

Paralogs for OBSL1 Gene

(2) SIMAP similar genes for OBSL1 Gene using alignment to 10 proteins:

  • OBSL1_HUMAN
  • A4KVA4_HUMAN
  • A6NN50_HUMAN
  • A8MSZ8_HUMAN
  • E7ER99_HUMAN
  • H0Y684_HUMAN
  • J3KN49_HUMAN
  • Q6P710_HUMAN
  • S4R3M6_HUMAN
  • S4R463_HUMAN
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 Variation AA Info Type
rs10180675 benign, not specified, Three M syndrome 219,570,312(-) A/G coding_sequence_variant, synonymous_variant
rs1039898 benign, Three M syndrome 219,565,481(-) C/T coding_sequence_variant, missense_variant
rs1043537 benign, Three M syndrome 219,566,909(-) G/A/C/T coding_sequence_variant, synonymous_variant
rs1057518716 pathogenic, Three M syndrome 2 219,563,561(-) A/ coding_sequence_variant, frameshift
rs1057518717 pathogenic, Three M syndrome 2 219,557,454(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, stop_gained

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

Variant ID Type Subtype PubMed ID
esv2662450 CNV deletion 23128226
nsv508887 CNV insertion 20534489
nsv520958 CNV loss 19592680
nsv584502 CNV gain 21841781
nsv834545 CNV loss 17160897

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)

Additional Variant Information for OBSL1 Gene

Human Gene Mutation Database (HGMD)
OBSL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OBSL1

SNP Genotyping and Copy Number Assay Products

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

Disorders for OBSL1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for OBSL1 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
three m syndrome 2
  • 3m2
three m syndrome 1
  • 3m1
dubowitz syndrome
  • dubowitz's syndrome
- 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.

Additional Disease Information for 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. Structural insight into M-band assembly and mechanics from the titin-obscurin-like-1 complex. (PMID: 20133654) Pernigo S … Gautel M (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4 22 58
  2. Obscurin-like 1, OBSL1, is a novel cytoskeletal protein related to obscurin. (PMID: 17289344) Geisler SB … Russell MW (Genomics 2007) 3 4 22 58
  3. 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 research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 58
  4. The 3M complex maintains microtubule and genome integrity. (PMID: 24793695) Yan J … Xiong Y (Molecular cell 2014) 3 4 58
  5. Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling. (PMID: 23018678) Hanson D … Clayton PE (Journal of molecular endocrinology 2012) 3 4 58

Products for OBSL1 Gene

Sources for OBSL1 Gene

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