ENSMUSG00000057738


Mus musculus

Features
Gene ID: ENSMUSG00000057738
  
Biological name :Sptan1
  
Synonyms : P16546 / Spectrin alpha chain, non-erythrocytic 1 / Sptan1
  
Possible biological names infered from orthology : Q13813 / spectrin alpha, non-erythrocytic 1
  
Species: Mus musculus
  
Chr. number: 2
Strand: 1
Band: B
Gene start: 29965560
Gene end: 30031451
  
Corresponding Affymetrix probe sets: 10470834 (MoGene1.0st)   1427888_a_at (Mouse Genome 430 2.0 Array)   1427889_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000097797
Ensembl peptide - ENSMUSP00000092697
Ensembl peptide - ENSMUSP00000109346
Ensembl peptide - ENSMUSP00000121116
Ensembl peptide - ENSMUSP00000109370
Ensembl peptide - ENSMUSP00000109348
Ensembl peptide - ENSMUSP00000047792
NCBI entrez gene - 20740     See in Manteia.
MGI - MGI:98386
RefSeq - XM_006497816
RefSeq - NM_001177667
RefSeq - NM_001177668
RefSeq - NM_001309460
RefSeq - XM_006497809
RefSeq - XM_006497810
RefSeq - XM_006497812
RefSeq - XM_006497813
RefSeq - XM_006497814
RefSeq - XM_006497815
RefSeq Peptide - NP_001171139
RefSeq Peptide - NP_001296389
RefSeq Peptide - NP_001171138
swissprot - A3KGU5
swissprot - E9Q447
swissprot - P16546
swissprot - A3KGU4
swissprot - A3KGU9
swissprot - A3KGU7
Ensembl - ENSMUSG00000057738
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sptan1ENSDARG00000019231Danio rerio
 SPTAN1ENSGALG00000004719Gallus gallus
 Q13813ENSG00000197694Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Spta1 / P08032 / Spectrin alpha chain, erythrocytic 1 / P02549* / spectrin alpha, erythrocytic 1*ENSMUSG0000002653254
Sptbn2 / spectrin beta, non-erythrocytic 2 / O15020*ENSMUSG0000006788921
Q62261 / Sptbn1 / Spectrin beta chain, non-erythrocytic 1 / Q01082* / spectrin beta, non-erythrocytic 1*ENSMUSG0000002031521
Sptb / spectrin beta, erythrocytic / P11277*ENSMUSG0000002106120
Sptbn4 / spectrin beta, non-erythrocytic 4 / Q9H254*ENSMUSG0000001175118
Actn4 / P57780 / Alpha-actinin-4 / O43707* / actinin alpha 4*ENSMUSG000000548087
Actn3 / O88990 / Alpha-actinin-3 / Q08043* / actinin alpha 3 (gene/pseudogene)*ENSMUSG000000064577
Actn1 / Q7TPR4 / Mus musculus actinin, alpha 1 (Actn1), transcript variant 2, mRNA. / P12814* / actinin alpha 1*ENSMUSG000000151437
Actn2 / Q9JI91 / Alpha-actinin-2 / P35609* / actinin alpha 2*ENSMUSG000000523747


Protein motifs (from Interpro)
Interpro ID Name
 IPR001452  SH3 domain
 IPR002017  Spectrin repeat
 IPR002048  EF-hand domain
 IPR011992  EF-hand domain pair
 IPR014837  EF-hand, Ca insensitive
 IPR018159  Spectrin/alpha-actinin
 IPR018247  EF-Hand 1, calcium-binding site
 IPR035825  Alpha Spectrin, SH3 domain
 IPR036028  SH3-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0051693 actin filament capping IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005916 fascia adherens IDA
 cellular_componentGO:0005938 cell cortex IEA
 cellular_componentGO:0015630 microtubule cytoskeleton IEA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0016328 lateral plasma membrane IDA
 cellular_componentGO:0030018 Z disc IDA
 cellular_componentGO:0030863 cortical cytoskeleton IDA
 cellular_componentGO:0032437 cuticular plate IDA
 cellular_componentGO:0033270 paranode region of axon IDA
 cellular_componentGO:0043209 myelin sheath IDA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0005516 calmodulin binding IEA
 molecular_functionGO:0030507 spectrin binding ISO
 molecular_functionGO:0045296 cadherin binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0046982 protein heterodimerization activity IDA


Pathways (from Reactome)
Pathway description
Caspase-mediated cleavage of cytoskeletal proteins
NCAM signaling for neurite out-growth
Interaction between L1 and Ankyrins
RAF/MAP kinase cascade
Neutrophil degranulation
COPI-mediated anterograde transport


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000277 abnormal heart shape "malformation of the form or the patterning of the heart" [J:18048]
Show

Allelic Composition: Thtm4.1Rpa/Thtm4.1Rpa,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0
Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0000351 increased cell proliferation "greater than the normal growth and reproduction of similar cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Thtm4.1Rpa/Thtm4.1Rpa,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0
Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0000428 abnormal craniofacial morphology "anomalous structure or development of the face and/or cranium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Thtm4.1Rpa/Thtm4.1Rpa,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0
Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0000783 abnormal forebrain morphology "malformed or absent anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]
Show

Allelic Composition: Thtm4.1Rpa/Thtm4.1Rpa,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0
Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0000823 abnormal lateral ventricle morphology "malformation or absence of cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Thtm4.1Rpa/Thtm4.1Rpa,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0
Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
Show

Allelic Composition: Thtm4.1Rpa/Thtm4.1Rpa,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0
Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pdgfratm8Sor/Pdgfratm8Sor,Pdgfrbtm1Mdt/Pdgfrbtm1Mdt,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6 * CBA

 MP:0002958 aqueductal stenosis "the most common form of obstructive hydrocephaly and results from narrowing of the aqueduct of Sylvius, which connects the third and fourth ventricles" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Thtm4.1Rpa/Thtm4.1Rpa,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0
Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0003720 abnormal neural tube closure "abnormal invagination and fusion of the neuroepithelial layer in early development" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator, J:99099]
Show

Allelic Composition: Thtm4.1Rpa/Thtm4.1Rpa,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0
Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Thtm4.1Rpa/Thtm4.1Rpa,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0
Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0004057 thin myocardial compact layer "reduced thickness of the outer, dense layer of the myocardium " [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Thtm4.1Rpa/Thtm4.1Rpa,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0
Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0004274 abnormal embryonic/fetal subventricular zone morphology "any structural anomaly in the transient proliferative population of neurons that expands exponentially during late prenatal development; it is a continuous germinal zone distinct from the ventricular zone that surrounds the brain ventricles" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:12637172]
Show

Allelic Composition: Thtm4.1Rpa/Thtm4.1Rpa,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0
Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0004937 dilated heart "stretched or widened aperture of the luminal spaces of the heart, usually with an increase in contained fluid" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Thtm4.1Rpa/Thtm4.1Rpa,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0
Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0005621 abnormal cell physiology "aberration in the vital processes of the cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
Show

Allelic Composition: Thtm4.1Rpa/Thtm4.1Rpa,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0
Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0008458 abnormal cortical ventricular zone morphology "any structural anomaly of a transient region of the developing cerebral cortex that contains migrating neurons, radial glial cells, and a large population of cycling multipotent neural stem cells that generate newborn neurons" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Thtm4.1Rpa/Thtm4.1Rpa,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0
Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0010733 abnormal axon initial segment morphology "any structural anomaly of the short unmyelinated axon segment adjacent to the cell soma where voltage gated channels accumulate and axon potential initiation usually occurs" [PMID:18929652]
Show

Allelic Composition: Nuak1tm1Sia/Nuak1tm1Sia,Nuak2tm1Sia/Nuak2tm1Sia
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

 MP:0011099 complete lethality throughout fetal growth and development "death of all organisms of a given genotype in a population between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Thtm4.1Rpa/Thtm4.1Rpa,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0
Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0011108 partial embryonic lethality during organogenesis "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Thtm4.1Rpa/Thtm4.1Rpa,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0
Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0012676 dilated brain ventricles "the luminal space of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord is increased in volume or area, usually with an increase in contained fluid" [MGI:anna]
Show

Allelic Composition: Thtm4.1Rpa/Thtm4.1Rpa,Tg(Chx10-EGFP/cre,-ALPP)2Clc/0
Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd * C57BL/6 * SJL

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000059923 Grb2 / Q60631 / Growth factor receptor-bound protein 2 / P62993*  / complex / reaction
 ENSMUSG00000026532 Spta1 / P08032 / Spectrin alpha chain, erythrocytic 1 / P02549* / spectrin alpha, erythrocytic 1*  / complex
 ENSMUSG00000027303 Ptpra / P18052 / protein tyrosine phosphatase, receptor type, A / P18433*  / complex
 ENSMUSG00000062825 Actg1 / P63260 / Actin, cytoplasmic 2 Actin, cytoplasmic 2, N-terminally processed / P63261* / actin gamma 1*  / complex
 ENSMUSG00000024241 Sos1 / Q62245 / Son of sevenless homolog 1 / Q07889* / SOS Ras/Rac guanine nucleotide exchange factor 1*  / reaction / complex
 ENSMUSG00000031543 Ank1 / Q02357 / Ankyrin-1 / P16157*  / reaction / complex
 ENSMUSG00000020315 Q62261 / Sptbn1 / Spectrin beta chain, non-erythrocytic 1 / Q01082* / spectrin beta, non-erythrocytic 1*  / complex
 ENSMUSG00000057738 P16546 / Sptan1 / Spectrin alpha chain, non-erythrocytic 1 / Q13813* / spectrin alpha, non-erythrocytic 1*  / complex
 ENSMUSG00000067889 Sptbn2 / spectrin beta, non-erythrocytic 2 / O15020*  / complex
 ENSMUSG00000032826 Ank2 / Q8C8R3 / Ankyrin-2 / Q01484*  / reaction / complex
 ENSMUSG00000011751 Sptbn4 / spectrin beta, non-erythrocytic 4 / Q9H254*  / complex
 ENSMUSG00000021061 Sptb / spectrin beta, erythrocytic / P11277*  / complex
 ENSMUSG00000019843 Fyn / P39688 / Tyrosine-protein kinase Fyn / P06241* / FYN proto-oncogene, Src family tyrosine kinase*  / complex
 ENSMUSG00000031628 Casp3 / P70677 / Caspase-3 Caspase-3 subunit p17 Caspase-3 subunit p12 / P42574* / caspase 3*  / reaction
 ENSMUSG00000029580 Actb / P60710 / Actin, cytoplasmic 1 Actin, cytoplasmic 1, N-terminally processed / POTEJ* / P60709* / P0CG39* / actin beta* / POTE ankyrin domain family member J*  / complex
 ENSMUSG00000022607 Ptk2 / P34152 / PTK2 protein tyrosine kinase 2 / Q05397* / protein tyrosine kinase 2*  / complex






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr