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OBSL1 obscurin like cytoskeletal adaptor 1 [ Homo sapiens (human) ]

Gene ID: 23363, updated on 3-Nov-2024

Summary

Official Symbol
OBSL1provided by HGNC
Official Full Name
obscurin like cytoskeletal adaptor 1provided by HGNC
Primary source
HGNC:HGNC:29092
See related
Ensembl:ENSG00000124006 MIM:610991; AllianceGenome:HGNC:29092
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
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Genomic context

See OBSL1 in Genome Data Viewer
Location:
2q35
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (219547206..219571539, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (220034047..220056240, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (220415450..220436261, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ASIC4 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17154 Neighboring gene GATA motif-containing MPRA enhancer 279/280 Neighboring gene Sharpr-MPRA regulatory region 4906 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220377201-220377842 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:220379127-220379302 Neighboring gene acid sensing ion channel subunit family member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220387632-220388132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220388133-220388633 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220396965-220397562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220402386-220402940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220402941-220403496 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12358 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12359 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12360 Neighboring gene chondroitin polymerizing factor Neighboring gene transmembrane protein 198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12361 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220417356-220417856 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220417857-220418357 Neighboring gene microRNA 3132 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:220422411-220422601 Neighboring gene Sharpr-MPRA regulatory region 8831 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220425347-220426210 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220429659-220430520 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220430521-220431382 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220431383-220432244 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220434367-220435204 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220435205-220436042 Neighboring gene Sharpr-MPRA regulatory region 8639 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220441287-220441862 Neighboring gene inhibin subunit alpha Neighboring gene RN7SK pseudogene 213

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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 Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • KIAA0657, MGC71026

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cytoskeletal anchor activity NAS
Non-traceable Author Statement
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
part_of 3M complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
located_in M band TAS
Traceable Author Statement
more info
PubMed 
located_in Z disc TAS
Traceable Author Statement
more info
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in intercalated disc TAS
Traceable Author Statement
more info
PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in perinuclear region of cytoplasm TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
obscurin-like protein 1
Names
obscurin like 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
XP_047299755.1
XP_047299756.1
XP_054197125.1
XP_054197126.1
XP_054197127.1
XP_054197128.1
XP_054197129.1
XP_054197130.1
XP_054197131.1
XP_054197132.1
XP_054197133.1
XP_054197134.1
XP_054197135.1
XP_054197136.1

NCBI Reference Sequences (RefSeq)

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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_016977.2 RefSeqGene

    Range
    5000..25811
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001173408.2NP_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 (5) summary
    smart00408
    Location:914971
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:134226
    IG; Immunoglobulin
    smart00410
    Location:18101
    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 ...
    cd00096
    Location:3033
    Ig; Ig strand B [structural motif]
  2. NM_001173431.2NP_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)
    AC009955, AK023854, CK904385, DB475523, EF063637
    Consensus CDS
    CCDS63134.1
    UniProtKB/TrEMBL
    A6NN50
    Related
    ENSP00000474519.1, ENST00000603926.5
    Conserved Domains (4) summary
    smart00408
    Location:10991159
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:134226
    IG; Immunoglobulin
    smart00410
    Location:725802
    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 ...
  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
    A0A024R468, A4KVA4, A4KVA5, O75147, Q96IW3, S4R3M6
    UniProtKB/TrEMBL
    A6NN50
    Related
    ENSP00000385636.1, ENST00000404537.6
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    219547206..219571539 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017003700.2XP_016859189.1  obscurin-like protein 1 isoform X6

    UniProtKB/TrEMBL
    A6NN50
  2. XM_017003699.2XP_016859188.1  obscurin-like protein 1 isoform X4

    UniProtKB/TrEMBL
    A6NN50
  3. XM_017003698.2XP_016859187.1  obscurin-like protein 1 isoform X5

    UniProtKB/TrEMBL
    A6NN50
  4. XM_011510857.3XP_011509159.1  obscurin-like protein 1 isoform X1

    UniProtKB/TrEMBL
    A6NN50
    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
  5. XM_017003697.3XP_016859186.1  obscurin-like protein 1 isoform X2

    UniProtKB/TrEMBL
    A6NN50
  6. XM_017003696.3XP_016859185.1  obscurin-like protein 1 isoform X3

    UniProtKB/TrEMBL
    A6NN50
  7. XM_011510863.4XP_011509165.1  obscurin-like protein 1 isoform X7

    UniProtKB/TrEMBL
    A6NN50
    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_011510865.3XP_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_047443800.1XP_047299756.1  obscurin-like protein 1 isoform X11

  10. XM_011510866.3XP_011509168.1  obscurin-like protein 1 isoform X10

    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
  11. XM_047443799.1XP_047299755.1  obscurin-like protein 1 isoform X9

  12. XM_011510864.3XP_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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    220034047..220056240 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054341155.1XP_054197130.1  obscurin-like protein 1 isoform X6

  2. XM_054341153.1XP_054197128.1  obscurin-like protein 1 isoform X4

  3. XM_054341154.1XP_054197129.1  obscurin-like protein 1 isoform X5

  4. XM_054341150.1XP_054197125.1  obscurin-like protein 1 isoform X1

  5. XM_054341151.1XP_054197126.1  obscurin-like protein 1 isoform X2

  6. XM_054341152.1XP_054197127.1  obscurin-like protein 1 isoform X3

  7. XM_054341156.1XP_054197131.1  obscurin-like protein 1 isoform X7

  8. XM_054341158.1XP_054197133.1  obscurin-like protein 1 isoform X8

  9. XM_054341161.1XP_054197136.1  obscurin-like protein 1 isoform X11

  10. XM_054341160.1XP_054197135.1  obscurin-like protein 1 isoform X10

  11. XM_054341159.1XP_054197134.1  obscurin-like protein 1 isoform X9

  12. XM_054341157.1XP_054197132.1  obscurin-like protein 1 isoform X8