ENSMUSG00000048279


Mus musculus

Features
Gene ID: ENSMUSG00000048279
  
Biological name :Sacs
  
Synonyms : Sacs / sacsin
  
Possible biological names infered from orthology : Q9NZJ4 / sacsin molecular chaperone
  
Species: Mus musculus
  
Chr. number: 14
Strand: 1
Band: D1
Gene start: 61138457
Gene end: 61240695
  
Corresponding Affymetrix probe sets: 10415766 (MoGene1.0st)   1423010_at (Mouse Genome 430 2.0 Array)   1434958_at (Mouse Genome 430 2.0 Array)   1457775_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000113007
Ensembl peptide - ENSMUSP00000155783
Ensembl peptide - ENSMUSP00000154300
Ensembl peptide - ENSMUSP00000113925
Ensembl peptide - ENSMUSP00000113377
Ensembl peptide - ENSMUSP00000086816
NCBI entrez gene - 50720     See in Manteia.
MGI - MGI:1354724
RefSeq - XM_006519228
RefSeq - NM_172809
RefSeq - XM_006519226
RefSeq - XM_006519227
RefSeq Peptide - NP_766397
swissprot - E9QNY8
swissprot - B2RRL5
swissprot - A0A0R4J125
swissprot - D3Z3H1
Ensembl - ENSMUSG00000048279
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sacsENSDARG00000091042Danio rerio
 SACSENSGALG00000017120Gallus gallus
 SACSENSG00000151835Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001623  DnaJ domain
 IPR007842  HEPN domain
 IPR029071  Ubiquitin-like domain superfamily
 IPR036869  Chaperone J-domain superfamily
 IPR036890  Histidine kinase/HSP90-like ATPase superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
No match


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ctsdtm1.1Thre/Ctsdtm1.1Thre,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: C57BL/6 * C57BL/6N * CBA * SJL

 MP:0000747 muscle weakness "loss of muscle strength" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Ctsdtm1.1Thre/Ctsdtm1.1Thre,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: C57BL/6 * C57BL/6N * CBA * SJL

 MP:0000876 Purkinje cell degeneration "a retrogressive impairment of function or destruction of the large neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex" [J:46854]
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Allelic Composition: Ctsdtm1.1Thre/Ctsdtm1.1Thre,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: C57BL/6 * C57BL/6N * CBA * SJL

 MP:0000877 abnormal Purkinje cell "any structural anomaly of the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex; these inhibitory neurons provide the output of the cerebellar cortex through axons that project into the white matter, and extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells" [J:46140, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Ctsdtm1.1Thre/Ctsdtm1.1Thre,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: C57BL/6 * C57BL/6N * CBA * SJL

 MP:0000937 abnormal motor neuron morphology "malformation or absence of cells that innervate an effector (muscle or glandular) tissue; responsible for transmission of motor impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
Show

Allelic Composition: Ctsdtm1.1Thre/Ctsdtm1.1Thre,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: C57BL/6 * C57BL/6N * CBA * SJL

 MP:0000938 motor neuron degeneration "retrogressive impairment of function or destruction of the cells that innervate an effector (muscle or glandular) tissue" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ctsdtm1.1Thre/Ctsdtm1.1Thre,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: C57BL/6 * C57BL/6N * CBA * SJL

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Ctsdtm1.1Thre/Ctsdtm1.1Thre,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: C57BL/6 * C57BL/6N * CBA * SJL

Allelic Composition: Sacstm1(NCOM)Mfgc/Sacs+
Genetic Background: Not Specified

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
Show

Allelic Composition: Ctsdtm1.1Thre/Ctsdtm1.1Thre,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: C57BL/6 * C57BL/6N * CBA * SJL

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ctsdtm1.1Thre/Ctsdtm1.1Thre,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: C57BL/6 * C57BL/6N * CBA * SJL

 MP:0001525 impaired balance "reduced ability of an animal to maintain equilibrium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:64962, J:17123]
Show

Allelic Composition: Ctsdtm1.1Thre/Ctsdtm1.1Thre,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: C57BL/6 * C57BL/6N * CBA * SJL

Allelic Composition: Sacstm1(NCOM)Mfgc/Sacs+
Genetic Background: Not Specified

 MP:0003082 abnormal gastrocnemius morphology "anomaly in the the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles" [smb:Susan M. Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Ctsdtm1.1Thre/Ctsdtm1.1Thre,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: C57BL/6 * C57BL/6N * CBA * SJL

 MP:0003084 abnormal skeletal muscle fiber morphology "anomalous structure of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [smb:Susan M. Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Ctsdtm1.1Thre/Ctsdtm1.1Thre,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: C57BL/6 * C57BL/6N * CBA * SJL

 MP:0005405 axon degeneration "retrogressive pathologic change in the single process of a nerve cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ctsdtm1.1Thre/Ctsdtm1.1Thre,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: C57BL/6 * C57BL/6N * CBA * SJL

 MP:0006036 abnormal mitochondrial physiology 
Show

Allelic Composition: Ctsdtm1.1Thre/Ctsdtm1.1Thre,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: C57BL/6 * C57BL/6N * CBA * SJL

 MP:0008143 abnormal dendrite morphology "any structural anomaly of the highly branched tree-like process of a neuron that serves as a receptive field and conducts impulses toward the cell body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ctsdtm1.1Thre/Ctsdtm1.1Thre,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: C57BL/6 * C57BL/6N * CBA * SJL

 MP:0008572 abnormal Purkinje cell dendrite morphology "any strucutral anomaly of the Purkinje cell body projections with hundreds of parallel spiny branches reaching up into the molecular layer" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ctsdtm1.1Thre/Ctsdtm1.1Thre,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: C57BL/6 * C57BL/6N * CBA * SJL

 MP:0009422 decreased gastrocnemius weight "reduction in the weight of the two-headed large muscle of the posterior portion of the lower hindleg, the most superficial of the calf muscles" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Ctsdtm1.1Thre/Ctsdtm1.1Thre,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: C57BL/6 * C57BL/6N * CBA * SJL

 MP:0009426 decreased soleus weight "reduction in the weight of the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ctsdtm1.1Thre/Ctsdtm1.1Thre,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: C57BL/6 * C57BL/6N * CBA * SJL

 MP:0010053 decreased grip strength "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
Show

Allelic Composition: Ctsdtm1.1Thre/Ctsdtm1.1Thre,Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic Background: involves: C57BL/6 * C57BL/6N * CBA * SJL

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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