Obsl1 MGI Mouse Gene Detail - MGI:2138628

Symbol

Obsl1
Name

obscurin-like 1

Feature Type

protein coding gene
IDs

MGI:2138628
NCBI Gene: 98733
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr1:75462469-75483134 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 39.15 cM
Mapping Data

1 experiment

SNPs within 2kb

532 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2138628	protein coding gene	Chr1:75455954-75483134 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0016190	protein coding gene	Chr1:76057121-76085862 (-)
A/J	MGP_AJ_G0016173	protein coding gene	Chr1:73403396-73431784 (-)
AKR/J	MGP_AKRJ_G0016130	protein coding gene	Chr1:75437320-75468489 (-)
BALB/cJ	MGP_BALBcJ_G0016128	protein coding gene	Chr1:73465993-73493674 (-)
C3H/HeJ	MGP_C3HHeJ_G0015959	protein coding gene	Chr1:75770226-75797549 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0016581	protein coding gene	Chr1:79011280-79040046 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014302	protein coding gene	Chr1:68962471-68989647 (-)
CAST/EiJ	MGP_CASTEiJ_G0015543	protein coding gene	Chr1:75115221-75144390 (-)
CBA/J	MGP_CBAJ_G0015932	protein coding gene	Chr1:81588801-81622957 (-)
DBA/2J	MGP_DBA2J_G0016033	protein coding gene	Chr1:72722732-72749841 (-)
FVB/NJ	MGP_FVBNJ_G0016036	protein coding gene	Chr1:71928895-71957586 (-)
LP/J	MGP_LPJ_G0016105	protein coding gene	Chr1:77184441-77213602 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016056	protein coding gene	Chr1:84923333-84955134 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016628	protein coding gene	Chr1:75507210-75534915 (-)
PWK/PhJ	MGP_PWKPhJ_G0015330	protein coding gene	Chr1:72199290-72226321 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0015108	protein coding gene	Chr1:74862971-74890568 (-)
WSB/EiJ	MGP_WSBEiJ_G0015605	protein coding gene	Chr1:75316779-75345403 (-)

Human Ortholog

OBSL1, obscurin like cytoskeletal adaptor 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

OBSL1, obscurin like cytoskeletal adaptor 1
Links

HGNC:29092

NCBI Gene ID: 23363

neXtProt AC: NX_O75147

UniProt: O75147
Chr Location

2q35; chr2:219547206-219571859 (-) GRCh38

MGI Vertebrate Homology

Obsl1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: OBSL1
Gene Tree

Obsl1

Diseases

1 with human OBSL1 associations

				Human Disease	Mouse Models
				3-M syndrome IDs 3-M syndrome DOID:0060241 MESH:C535314 OMIM:273750 OMIM:612921 OMIM:614205 ORDO:2616 UMLS_CUI:C1848862 UMLS_CUI:C3280146

Click on a disease name to see all genes associated with that disease.

References

1 with disease annotations

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Phenotype Summary

5 phenotypes from 2 alleles in 1 genetic background
11 phenotypes from multigenic genotypes
25 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

21
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

12
Radiation induced

2
Spontaneous

1
Targeted

3
Genomic Mutations

4 involving Obsl1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

100 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele are embryonic lethal.

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All GO Annotations

19
GO References

4

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

708
Tissues

1
cDNA Data

72
Literature Summary

1

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase obsl1

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All Sequences

84
RefSeq

16
UniProt

5
CCDS

CCDS15077.2, CCDS78624.1

Ensembl

ENSMUSG00000026211 (Evidence)
NCBI Gene

98733

			Length	Strain/Species	Flank
genomic	98733	NCBI Gene Model \| MGI Sequence Detail	20666	C57BL/6J	± kb
transcript	NM_001403113	RefSeq \| MGI Sequence Detail	6046	C57BL/6
polypeptide	D3YYU8	UniProt \| EBI \| MGI Sequence Detail	1804	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000011588 obscurin-like protein 1

(term hierarchy)
InterPro Domains

IPR003961 Fibronectin type III

IPR036116 Fibronectin type III superfamily

IPR013098 Immunoglobulin I-set

IPR007110 Immunoglobulin-like domain

IPR036179 Immunoglobulin-like domain superfamily

IPR013783 Immunoglobulin-like fold

IPR003599 Immunoglobulin subtype

IPR003598 Immunoglobulin subtype 2

IPR052385 Obscurin and Obscurin-like Regulators

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All nucleic 76

Genomic 1

cDNA 73

Other 2

Microarray probesets 8

Summaries

All 47

Developmental Gene Expression 1

Diseases 1

Gene Ontology 4

Phenotypes 25
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

J:283623 Blondelle J, et al., Murine obscurin and Obsl1 have functionally redundant roles in sarcolemmal integrity, sarcoplasmic reticulum organization, and muscle metabolism. Commun Biol. 2019;2:178

TSS for Obsl1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr12413	Chr1:75483283-75483294 (-)	-155 bp
Tssr12412	Chr1:75483106-75483134 (-)	14 bp
Tssr12411	Chr1:75483078-75483103 (-)	43 bp
Tssr12410	Chr1:75483057-75483068 (-)	71 bp
Tssr12409	Chr1:75482975-75483046 (-)	123 bp
Tssr12408	Chr1:75482335-75482347 (-)	793 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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