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Entry version 157 (13 Feb 2019)
Sequence version 4 (05 Apr 2011)
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Protein

Obscurin-like protein 1

Gene

OBSL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-8951664 Neddylation

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Obscurin-like protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:OBSL1
Synonyms:KIAA0657
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000124006.14

Human Gene Nomenclature Database

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HGNCi
HGNC:29092 OBSL1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
610991 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O75147

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Golgi apparatus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

3M syndrome 2 (3M2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:612921

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi17F → R: Diminishes binding affinity for TTN. 1 Publication1

Keywords - Diseasei

Dwarfism

Organism-specific databases

DisGeNET

More...
DisGeNETi
23363

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
OBSL1

MalaCards human disease database

More...
MalaCardsi
OBSL1
MIMi612921 phenotype

Open Targets

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OpenTargetsi
ENSG00000124006

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
2616 3M syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA142671235

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
OBSL1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002479591 – 1896Obscurin-like protein 1Add BLAST1896

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei10PhosphoserineCombined sources1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi33 ↔ 84PROSITE-ProRule annotation
Disulfide bondi149 ↔ 209PROSITE-ProRule annotation
Disulfide bondi267 ↔ 319PROSITE-ProRule annotation
Disulfide bondi362 ↔ 412PROSITE-ProRule annotation
Disulfide bondi738 ↔ 788PROSITE-ProRule annotation
Disulfide bondi829 ↔ 879PROSITE-ProRule annotation
Disulfide bondi920 ↔ 970PROSITE-ProRule annotation
Disulfide bondi1011 ↔ 1061PROSITE-ProRule annotation
Disulfide bondi1103 ↔ 1153PROSITE-ProRule annotation
Disulfide bondi1195 ↔ 1245PROSITE-ProRule annotation
Disulfide bondi1381 ↔ 1522PROSITE-ProRule annotation
Disulfide bondi1650 ↔ 1700PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O75147

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O75147

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
O75147

PeptideAtlas

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PeptideAtlasi
O75147

PRoteomics IDEntifications database

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PRIDEi
O75147

ProteomicsDB human proteome resource

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ProteomicsDBi
49811
49812 [O75147-1]
49813 [O75147-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O75147

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
O75147

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed, with predominant levels found in the heart.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000124006 Expressed in 223 organ(s), highest expression level in right ovary

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O75147 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O75147 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA036404
HPA036405

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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.5 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
116944, 646 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O75147

Database of interacting proteins

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DIPi
DIP-38340N

Protein interaction database and analysis system

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IntActi
O75147, 20 interactors

Molecular INTeraction database

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MINTi
O75147

STRING: functional protein association networks

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STRINGi
9606.ENSP00000385636

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11896
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CPCNMR-A893-992[»]
2E6PNMR-A714-804[»]
2E6QNMR-A615-713[»]
2LU7NMR-A1277-1357[»]
2LVCNMR-A805-892[»]
2WP3X-ray1.48O1-106[»]
2WWKX-ray1.70O1-106[»]
2WWMX-ray2.30C/O1-106[»]
3KNBX-ray1.40B1-105[»]
5FM5X-ray3.10O/P251-339[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O75147

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O75147

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
O75147

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini12 – 100Ig-like 1Add BLAST89
Domaini128 – 225Ig-like 2Add BLAST98
Domaini243 – 330Ig-like 3Add BLAST88
Domaini339 – 425Ig-like 4Add BLAST87
Domaini517 – 615Fibronectin type-IIIPROSITE-ProRule annotationAdd BLAST99
Domaini714 – 800Ig-like 5Add BLAST87
Domaini804 – 893Ig-like 6Add BLAST90
Domaini902 – 982Ig-like 7Add BLAST81
Domaini986 – 1075Ig-like 8Add BLAST90
Domaini1078 – 1172Ig-like 9Add BLAST95
Domaini1174 – 1261Ig-like 10Add BLAST88
Domaini1265 – 1357Ig-like 11Add BLAST93
Domaini1357 – 1534Ig-like 12Add BLAST178
Domaini1628 – 1720Ig-like 13Add BLAST93
Domaini1794 – 1896Ig-like 14Add BLAST103

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni17 – 19Interaction with TTN3
Regioni85 – 94Interaction with TTN10

Keywords - Domaini

Immunoglobulin domain, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0613 Eukaryota
ENOG410XQFD LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156702

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000263472

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG082081

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O75147

KEGG Orthology (KO)

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KOi
K19574

Identification of Orthologs from Complete Genome Data

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OMAi
RYRMEQK

Database of Orthologous Groups

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OrthoDBi
15947at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O75147

Family and domain databases

Conserved Domains Database

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CDDi
cd00063 FN3, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.40.10, 20 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013098 Ig_I-set
IPR003599 Ig_sub
IPR003598 Ig_sub2

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07679 I-set, 13 hits

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00409 IG, 19 hits
SM00408 IGc2, 14 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48726 SSF48726, 18 hits
SSF49265 SSF49265, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50853 FN3, 1 hit
PS50835 IG_LIKE, 14 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O75147-3) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MKASSGDQGS PPCFLRFPRP VRVVSGAEAE LKCVVLGEPP PVVVWEKGGQ
60 70 80 90 100
QLAASERLSF PADGAEHGLL LTAALPTDAG VYVCRARNAA GEAYAAAAVT
110 120 130 140 150
VLEPPASDPE LQPAERPLPS PGSGEGAPVF LTGPRSQWVL RGAEVVLTCR
160 170 180 190 200
AGGLPEPTLY WEKDGMALDE VWDSSHFALQ PGRAEDGPGA SLALRILAAR
210 220 230 240 250
LPDSGVYVCH ARNAHGHAQA GALLQVHQPP ESPPADPDEA PAPVVEPLKC
260 270 280 290 300
APKTFWVNEG KHAKFRCYVM GKPEPEIEWH WEGRPLLPDR RRLMYRDRDG
310 320 330 340 350
GFVLKVLYCQ AKDRGLYVCA ARNSAGQTLS AVQLHVKEPR LRFTRPLQDV
360 370 380 390 400
EGREHGIAVL ECKVPNSRIP TAWFREDQRL LPCRKYEQIE EGTVRRLIIH
410 420 430 440 450
RLKADDDGIY LCEMRGRVRT VANVTVKGPI LKRLPRKLDV LEGENAVLLV
460 470 480 490 500
ETLEAGVEGR WSRDGEELPV ICQSSSGHMH ALVLPGVTRE DAGEVTFSLG
510 520 530 540 550
NSRTTTLLRV KCVKHSPPGP PILAEMFKGH KNTVLLTWKP PEPAPETPFI
560 570 580 590 600
YRLERQEVGS EDWIQCFSIE KAGAVEVPGD CVPSEGDYRF RICTVSGHGR
610 620 630 640 650
SPHVVFHGSA HLVPTARLVA GLEDVQVYDG EDAVFSLDLS TIIQGTWFLN
660 670 680 690 700
GEELKSNEPE GQVEPGALRY RIEQKGLQHR LILHAVKHQD SGALVGFSCP
710 720 730 740 750
GVQDSAALTI QESPVHILSP QDRVSLTFTT SERVVLTCEL SRVDFPATWY
760 770 780 790 800
KDGQKVEESE LLVVKMDGRK HRLILPEAKV QDSGEFECRT EGVSAFFGVT
810 820 830 840 850
VQDPPVHIVD PREHVFVHAI TSECVMLACE VDREDAPVRW YKDGQEVEES
860 870 880 890 900
DFVVLENEGP HRRLVLPATQ PSDGGEFQCV AGDECAYFTV TITDVSSWIV
910 920 930 940 950
YPSGKVYVAA VRLERVVLTC ELCRPWAEVR WTKDGEEVVE SPALLLQKED
960 970 980 990 1000
TVRRLVLPAV QLEDSGEYLC EIDDESASFT VTVTEPPVRI IYPRDEVTLI
1010 1020 1030 1040 1050
AVTLECVVLM CELSREDAPV RWYKDGLEVE ESEALVLERD GPRCRLVLPA
1060 1070 1080 1090 1100
AQPEDGGEFV CDAGDDSAFF TVTVTAPPER IVHPAARSLD LHFGAPGRVE
1110 1120 1130 1140 1150
LRCEVAPAGS QVRWYKDGLE VEASDALQLG AEGPTRTLTL PHAQPEDAGE
1160 1170 1180 1190 1200
YVCETRHEAI TFNVILAEPP VQFLALETTP SPLCVAPGEP VVLSCELSRA
1210 1220 1230 1240 1250
GAPVVWSHNG RPVQEGEGLE LHAEGPRRVL CIQAAGPAHA GLYTCQSGAA
1260 1270 1280 1290 1300
PGAPSLSFTV QVAEPPVRVV APEAAQTRVR STPGGDLELV VHLSGPGGPV
1310 1320 1330 1340 1350
RWYKDGERLA SQGRVQLEQA GARQVLRVQG ARSGDAGEYL CDAPQDSRIF
1360 1370 1380 1390 1400
LVSVEEPLLV KLVSELTPLT VHEGDDATFR CEVSPPDADV TWLRNGAVVT
1410 1420 1430 1440 1450
PGPQVEMAQN GSSRILTLRG CQLGDAGTVT LRAGSTATSA RLHVRETELL
1460 1470 1480 1490 1500
FLRRLQDVRA EEGQDVCLEV ETGRVGAAGA VRWVRGGQPL PHDSRLSMAQ
1510 1520 1530 1540 1550
DGHIHRLFIH GVILADQGTY GCESHHDRTL ARLSVRPRQL RVLRPLEDVT
1560 1570 1580 1590 1600
ISEGGSATFQ LELSQEGVTG EWARGGVQLY PGPKCHIHSD GHRHRLVLNG
1610 1620 1630 1640 1650
LGLADSGCVS FTADSLRCAA RLIVREVPVT IVRGPHDLEV TEGDTATFEC
1660 1670 1680 1690 1700
ELSQALADVT WEKDGNALTP SPRLRLQALG TRRLLQLRRC GPSDAGTYSC
1710 1720 1730 1740 1750
AVGTARAGPV RLTVRERTVA VLSELRSVSA REGDGATFEC TVSEVETTGR
1760 1770 1780 1790 1800
WELGGRPLRP GARVRIRQEG KKHILVLSEL RAEDAGEVRF QAGPAQSLAL
1810 1820 1830 1840 1850
LEVEALPLQM CRHPPREKTV LVGRRAVLEV TVSRSGGHVC WLREGAELCP
1860 1870 1880 1890
GDKYEMRSHG PTHSLVIHDV RPEDQGTYCC QAGQDSTHTR LLVEGN
Length:1,896
Mass (Da):206,947
Last modified:April 5, 2011 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i6D592AC3E30E9ACA
GO
Isoform 2 (identifier: O75147-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     986-1025: PPVRIIYPRD...EDAPVRWYKD → SYQSQDSSNN...PPWRRTAGTE
     1026-1896: Missing.

Show »
Length:1,025
Mass (Da):113,273
Checksum:iCAF2D3D8E1920335
GO
Isoform 3 (identifier: O75147-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1076-1167: Missing.
     1405-1493: VEMAQNGSSR...VRGGQPLPHD → RQSCCSYGGC...TTIAPWPGSA
     1494-1896: Missing.

Show »
Length:1,401
Mass (Da):152,925
Checksum:i3AE3886DF8C0B8A8
GO
Isoform 4 (identifier: O75147-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1537-1543: PRQLRVL → RECPVLS
     1544-1896: Missing.

Show »
Length:1,543
Mass (Da):168,521
Checksum:i8DAB399C567C8CDD
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A8MSZ8A8MSZ8_HUMAN
Obscurin-like protein 1
OBSL1
612Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A6NN50A6NN50_HUMAN
Obscurin-like protein 1
OBSL1
1,804Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y684H0Y684_HUMAN
Obscurin-like protein 1
OBSL1
445Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
S4R463S4R463_HUMAN
Obscurin-like protein 1
OBSL1
412Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH07201 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti165G → R in BAA31632 (PubMed:9734811).Curated1
Sequence conflicti512C → CG in ABO42327 (PubMed:17289344).Curated1
Sequence conflicti723R → K in AAH07201 (PubMed:15489334).Curated1
Sequence conflicti723R → K in BAA31632 (PubMed:9734811).Curated1
Sequence conflicti1365E → D in BAA31632 (PubMed:9734811).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_040784986 – 1025PPVRI…RWYKD → SYQSQDSSNNNPELCVLLKK PKTRRLWSRFPPWRRTAGTE in isoform 2. 1 PublicationAdd BLAST40
Alternative sequenceiVSP_0407851026 – 1896Missing in isoform 2. 1 PublicationAdd BLAST871
Alternative sequenceiVSP_0407861076 – 1167Missing in isoform 3. 1 PublicationAdd BLAST92
Alternative sequenceiVSP_0407871405 – 1493VEMAQ…PLPHD → RQSCCSYGGCRMCGQRKART CVSKWRQAEWVQRGPCAGCE VGSPCPTTLACPWPRMGTST ASSSMVSYWPTRAPTAARAT TIAPWPGSA in isoform 3. 1 PublicationAdd BLAST89
Alternative sequenceiVSP_0407881494 – 1896Missing in isoform 3. 1 PublicationAdd BLAST403
Alternative sequenceiVSP_0547551537 – 1543PRQLRVL → RECPVLS in isoform 4. 1 Publication7
Alternative sequenceiVSP_0547561544 – 1896Missing in isoform 4. 1 PublicationAdd BLAST353

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
EF063637 mRNA Translation: ABO42327.1
EF063638 mRNA Translation: ABO42328.1
AC009955 Genomic DNA No translation available.
BC007201 mRNA Translation: AAH07201.1 Different initiation.
AB014557 mRNA Translation: BAA31632.2

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS46520.1 [O75147-3]
CCDS54433.1 [O75147-2]
CCDS63134.1 [O75147-4]

NCBI Reference Sequences

More...
RefSeqi
NP_001166879.1, NM_001173408.1 [O75147-2]
NP_001166902.1, NM_001173431.1 [O75147-4]
NP_056126.1, NM_015311.2 [O75147-3]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.526594

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000373873; ENSP00000362980; ENSG00000124006 [O75147-2]
ENST00000404537; ENSP00000385636; ENSG00000124006 [O75147-3]
ENST00000603926; ENSP00000474519; ENSG00000124006 [O75147-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
23363

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:23363

UCSC genome browser

More...
UCSCi
uc002vmi.4 human [O75147-3]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
EF063637 mRNA Translation: ABO42327.1
EF063638 mRNA Translation: ABO42328.1
AC009955 Genomic DNA No translation available.
BC007201 mRNA Translation: AAH07201.1 Different initiation.
AB014557 mRNA Translation: BAA31632.2
CCDSiCCDS46520.1 [O75147-3]
CCDS54433.1 [O75147-2]
CCDS63134.1 [O75147-4]
RefSeqiNP_001166879.1, NM_001173408.1 [O75147-2]
NP_001166902.1, NM_001173431.1 [O75147-4]
NP_056126.1, NM_015311.2 [O75147-3]
UniGeneiHs.526594

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CPCNMR-A893-992[»]
2E6PNMR-A714-804[»]
2E6QNMR-A615-713[»]
2LU7NMR-A1277-1357[»]
2LVCNMR-A805-892[»]
2WP3X-ray1.48O1-106[»]
2WWKX-ray1.70O1-106[»]
2WWMX-ray2.30C/O1-106[»]
3KNBX-ray1.40B1-105[»]
5FM5X-ray3.10O/P251-339[»]
ProteinModelPortaliO75147
SMRiO75147
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116944, 646 interactors
CORUMiO75147
DIPiDIP-38340N
IntActiO75147, 20 interactors
MINTiO75147
STRINGi9606.ENSP00000385636

PTM databases

iPTMnetiO75147
PhosphoSitePlusiO75147

Polymorphism and mutation databases

BioMutaiOBSL1

Proteomic databases

EPDiO75147
jPOSTiO75147
PaxDbiO75147
PeptideAtlasiO75147
PRIDEiO75147
ProteomicsDBi49811
49812 [O75147-1]
49813 [O75147-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000373873; ENSP00000362980; ENSG00000124006 [O75147-2]
ENST00000404537; ENSP00000385636; ENSG00000124006 [O75147-3]
ENST00000603926; ENSP00000474519; ENSG00000124006 [O75147-4]
GeneIDi23363
KEGGihsa:23363
UCSCiuc002vmi.4 human [O75147-3]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
23363
DisGeNETi23363
EuPathDBiHostDB:ENSG00000124006.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
OBSL1
GeneReviewsiOBSL1

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0002869
HIX0161860
HGNCiHGNC:29092 OBSL1
HPAiHPA036404
HPA036405
MalaCardsiOBSL1
MIMi610991 gene
612921 phenotype
neXtProtiNX_O75147
OpenTargetsiENSG00000124006
Orphaneti2616 3M syndrome
PharmGKBiPA142671235

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0613 Eukaryota
ENOG410XQFD LUCA
GeneTreeiENSGT00940000156702
HOGENOMiHOG000263472
HOVERGENiHBG082081
InParanoidiO75147
KOiK19574
OMAiRYRMEQK
OrthoDBi15947at2759
PhylomeDBiO75147

Enzyme and pathway databases

ReactomeiR-HSA-8951664 Neddylation

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
OBSL1 human
EvolutionaryTraceiO75147

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
OBSL1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
23363

Protein Ontology

More...
PROi
PR:O75147

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000124006 Expressed in 223 organ(s), highest expression level in right ovary
ExpressionAtlasiO75147 baseline and differential
GenevisibleiO75147 HS

Family and domain databases

CDDicd00063 FN3, 1 hit
Gene3Di2.60.40.10, 20 hits
InterProiView protein in InterPro
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013098 Ig_I-set
IPR003599 Ig_sub
IPR003598 Ig_sub2
PfamiView protein in Pfam
PF07679 I-set, 13 hits
SMARTiView protein in SMART
SM00409 IG, 19 hits
SM00408 IGc2, 14 hits
SUPFAMiSSF48726 SSF48726, 18 hits
SSF49265 SSF49265, 1 hit
PROSITEiView protein in PROSITE
PS50853 FN3, 1 hit
PS50835 IG_LIKE, 14 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiOBSL1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O75147
Secondary accession number(s): A4KVA4
, A4KVA5, Q96IW3, S4R3M6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 22, 2006
Last sequence update: April 5, 2011
Last modified: February 13, 2019
This is version 157 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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