SPTAN1 Gene
protein-coding GIFtS : 66
GCID: GC09 P131314
spectrin, alpha, non-erythrocytic 1
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Aliasesfor SPTAN1 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Spectrin, Alpha, Non-Erythrocytic 1 1 2 SPTA22 3 NEAS2 3 5 EIEE52 5 Alpha-II Spectrin2 3 Alpha-Fodrin1 Fodrin Alpha Chain2 3 Spectrin Alpha Chain, Non-Erythrocytic 12 Spectrin, Non-Erythroid Alpha Subunit2 3 Spectrin, Non-Erythroid Alpha Chain2
Export aliases for SPTAN1 gene to outside databases Previous GC identifers: GC09P122429 GC09P122961 GC09P124768 GC09P126690 GC09P126661 GC09P128394 GC09P130355 GC09P100926
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Summariesfor SPTAN1 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for SPTAN1 : Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants.(provided by RefSeq, Sep 2010) UniProtKB/Swiss-Prot: SPTN1_HUMAN, Q13813 Function : Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner andis thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane Gene Wiki entry for SPTAN1
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Genomic Viewsfor SPTAN1 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000009.11 NC_018920.1 NT_008470.19 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the SPTAN1 gene promoter: STAT5B Pbx1a AML1a ATF-2 NF-kappaB Arnt Evi-1 AREB6 c-Myb Pax-4a Other transcription factors Search SABiosciences Chromatin IP Primers for SPTAN1 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat SPTAN1
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 9q34.11 Ensembl cytogenetic band: 9q34.11 HGNC cytogenetic band: 9q34.11 SPTAN1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 9 GeneLoc Exon Structure
GeneLoc location for GC09P131314: view genomic region
(about GC identifiers )
Start:
131,314,866 bp from pter
End:
131,395,941 bp from pter
Size:
81,076 bases
Orientation:
plus strand
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Proteinsfor SPTAN1 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: SPTN1_HUMAN, Q13813 (See
protein sequence )Recommended Name: Spectrin alpha chain, non-erythrocytic 1 Size : 2472 amino acids; 284539 Da
Subunit : Like erythrocyte spectrin, the spectrin-like proteins are capable of forming dimers which can furtherassociate to tetramers. Interacts with isoform 1 of ACP1. Interacts with CALM and EMD. Interacts (via C-terminal spectrin repeats) with TRPC4. Identified in a complex with ACTN4, CASK, IQGAP1, MAGI2, NPHS1 and SPTBN1 (By similarity)
Subcellular location : Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Note=Expressed along the cell membrane inpodocytes and presumptive tubule cells during glomerulogenesis and is expressed along lateral cell margins in tubule cells (By similarity)
Sequence caution : Sequence=BAD93097.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
3 PDB 3D structures from and Proteopedia for SPTAN1 :2FOT (3D)
  3F31 (3D)
  3FB2 (3D)
 
Secondary accessions : Q13186 Q15324 Q16606 Q59EF1 Q5VXV5 Q5VXV6 Q7Z6M5 Q9P0V0Alternative splicing : 3 isoforms : Q13813-1 Q13813-2 Q13813-3 Explore the universe of human proteins at neXtProt for SPTAN1: NX_Q13813 Post-translational modifications:
Phosphorylation of Tyr-1176 decreases sensitivity to cleavage by calpain in vitro (By similarity)1
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q13813 SPTAN1 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins (3 alternative transcripts):
NP_001123910.1 NP_001182461.1 NP_003118.2 ENSEMBL proteins: ENSP00000361816 ENSP00000361824 ENSP00000350882 Reactome Protein details: Q13813 Human Recombinant Protein Products: Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11 ): About this table
SPTAN1 for ontologies About GeneDecksing SPTAN1 Antibody Products: Assay Products for SPTAN1:
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Protein
Domains / Familiesfor SPTAN1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
SPTAN1 for domains About GeneDecksing 5/8 InterPro domains/families (see all 8 ):
Graphical View of Domain Structure for InterPro Entry Q13813 ProtoNet protein and cluster: Q13813
2 Blocks protein families : IPB001452 SH3 domain signature IPB002017 Spectrin repeat UniProtKB/Swiss-Prot: SPTN1_HUMAN, Q13813 Similarity : Belongs to the spectrin familySimilarity : Contains 3 EF-hand domainsSimilarity : Contains 1 SH3 domainSimilarity : Contains 23 spectrin repeats
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Functionfor SPTAN1 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: SPTN1_HUMAN, Q13813 Function : Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner andis thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane
Genatlas biochemistry entry for SPTAN1 : spectrin,alpha,non-erythrocytic 1,intermediate filament associated protein (IFAP,type III),alpha-fodrin,120kDa,candidate autoantigen in primary Sjogren syndrome Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for SPTAN1 (see all 7 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SPTAN1 (see all 2 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 3 ): SPTAN1 (NM_001130438 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SPTAN1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat SPTAN1
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTAN1
Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7 ): About this table
SPTAN1 for ontologies About GeneDecksing 5 GenomeRNAi human phenotypes for SPTAN1 :Animal Models: Mouse knock-out Sptan1 tm1.1Gnic for SPTAN1 8 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Sptan1) :
SPTAN1 for phenotypes About GeneDecksing
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Pathways & Interactionsfor SPTAN1 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/14 super-pathways (see all 14 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Apoptotic cleavage of cellular proteins 2 Axon guidance 3 Sertoli-Sertoli Cell Junction Dynamics 4 Regulation of Water Balance by Renal Aquaporins 5 Apoptosis and survival_Caspase cascade
Pathway sources See GeneCards unified pathways Show all pathways 1 EMD Millipore Pathway for SPTAN1 3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SPTAN1 2
Cell Signaling Technology (CST) Pathways for SPTAN1 1 GeneGo (Thomson Reuters) Pathway for SPTAN1 2 BioSystems Pathways for SPTAN1 5/11
Reactome Pathways for SPTAN1 (see all 11 )1
Kegg Pathway (Kegg details for SPTAN1) :
SPTAN1 for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SPTAN1 STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/877 Interacting proteins for SPTAN1 (Q13813 1 , 2 , 3 ENSP00000361824 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 877 )Interactant Interaction Details GeneCard External ID(s) MLH1 P40692 1 , 2 , 3 EBI-351450,EBI-744248 MINT-7945693 I2D:
score=2 EVL Q9UI08 2 , 3 , ENSP00000376652 4 MINT-7211689 MINT-7211745 MINT-7211676 MINT-7211761 I2D:
score=3 STRING: ENSP00000376652 FANCG O15287 2 , 3 , ENSP00000367910 4 MINT-7231728 MINT-7231786 MINT-7231852 MINT-7231752 I2D:
score=2 STRING: ENSP00000367910 HSP90AB1 P08238 2 , 3 MINT-7945693 MINT-72663 MINT-7947479 I2D:
score=3 ACTB P60709 2 , 3 , ENSP00000349960 4 MINT-7945693 MINT-7947479 I2D:
score=2 STRING: ENSP00000349960
About this table Gene Ontology (GO): 4 biological process terms (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0006915 apoptotic process
TAS -- GO:0006921 cellular component disassembly involved in execution phase of apoptosis
TAS -- GO:0007411 axon guidance
TAS -- GO:0051693 actin filament capping
IEA --
SPTAN1 for ontologies About GeneDecksing
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Drugs & Compoundsfor SPTAN1 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
SPTAN1 for compounds About GeneDecksing Browse Tocris compounds for SPTAN1 1 HMDB Compound for SPTAN1 About this table 10/12 Novoseek chemical compound relationships for SPTAN1 gene (see all 12 ) About this table
Search CenterWatch for drugs/clinical trials and news about SPTAN1 / SPTN1
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Transcriptsfor SPTAN1 gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for SPTAN1 gene (3 alternative transcripts): NM_001130438.2 NM_001195532.1 NM_003127.3 Unigene Cluster for SPTAN1:
Spectrin, alpha, non-erythrocytic 1 Hs.372331 [show with all ESTs ] Unigene Representative Sequence: NM_001130438 9 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000372731 (uc010mye.1 uc010myf.1 uc004bvl.4 uc004bvn.4 uc004bvo.4 )ENST00000372739 (uc004bvm.4 ) ENST00000497216 (uc004bvk.3 ) ENST00000472211 ENST00000475367 ENST00000461855 ENST00000476825 ENST00000491712 ENST00000358161 (uc011mbg.2 uc011mbh.2 )Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for SPTAN1 (see all 7 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SPTAN1 (see all 2 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 3 ): SPTAN1 (NM_001130438 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SPTAN1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat SPTAN1
Additional cDNA sequence: AB191262.1 AB209860.1 AK294753.1 AK300386.1 AK307676.1 AK309836.1 AK310696.1 AL110273.1 BC034956.1 BC051801.1 BC053521.1 J05243.1 M18627.1 M19725.1 M24773.1 U26396.1 U83867.1 X86901.1
24/44 DOTS entries (see all 44 ): DT.100652442 DT.91857738
DT.100643121 DT.91770157 DT.91770174 DT.419619 DT.100652455 DT.91770168 DT.95368690 DT.40223553 DT.121201317 DT.40238472 DT.92412592 DT.95285248 DT.121201302 DT.91891726 DT.121201301 DT.91770169 DT.95139645 DT.102838575 DT.75136282 DT.86821178 DT.91770172 DT.91927996 24/720 AceView cDNA sequences (see all 720 ):
BM798887 BC053521 BI012240 CD559095 F03239 BX111658 AA350507 BQ709573 BG819047 BU734728 AA324216 BQ877751 AA327459 CR594002 BG742651 AU140666 BM706240 BM705183 BU187270 BF934595 BM707631 BQ709589 D51827 BM707680 GeneLoc Exon Structure 5/26 Alternative Splicing Database (ASD) splice patterns (SP) for SPTAN1 (see all 26 ) About this scheme ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c · 17d ^ 18a · 18b · SP1 :                                                     SP2 :     -   -                                               SP3 :                                                     SP4 :                                                     SP5 :                                                    
ExUns: 18c · 18d ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b · 26c ^ 27a · 27b ^ 28a · 28b ^ 29 ^ 30 ^ 31a · 31b ^ 32 ^ 33a · 33b · 33c ^ SP1 :                       -   -       -     -                   SP2 :                                                     SP3 :                     -   -   -       -     -                   SP4 :                                                     SP5 :                                                    
ExUns: 34 ^ 35 ^ 36a · 36b ^ 37 ^ 38 ^ 39 ^ 40 ^ 41a · 41b ^ 42a · 42b ^ 43 ^ 44 ^ 45a · 45b ^ 46a · 46b ^ 47 ^ 48a · 48b ^ 49 ^ 50a · 50b ^ 51 ^ 52 ^ SP1 :                                                     SP2 :                                                     SP3 :                                                     SP4 :                                                     SP5 :                                                    
ExUns: 53 ^ 54a · 54b ^ 55 ^ 56a · 56b ^ 57a · 57b ^ 58 ^ 59a · 59b ^ 60 ^ 61a · SP1 :                           SP2 :                           SP3 :                           SP4 :                           SP5 :                          
ECgene alternative splicing isoforms for SPTAN1
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Expression for SPTAN1 gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section SPTAN1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: TAAAAGACAA
About this image SPTAN1 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See SPTAN1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for SPTAN1 SOURCE GeneReport for Unigene cluster: Hs.372331 SABiosciences Expression via Pathway-Focused PCR Arrays including SPTAN1 : Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for SPTAN1Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat SPTAN1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat SPTAN1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat SPTAN1 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTAN1
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Orthologsfor SPTAN1 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for SPTAN1 gene from 6/26 species (see all 26 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
SPTAN11
spectrin, alpha, non-erythrocytic 1 (alpha-fodrin)
82.9(n) 96.33(a)
 
374234 NM_001042538.1 NP_001036003.1
lizard (Anolis carolinensis)
Reptilia
SYNE16
--
3(a)
possible ortholog
AAWZ02036914(5856-20000)
African clawed frog (Xenopus laevis)
Amphibia
sptan1-A2
spectrin, alpha, non-erythrocytic 1 (alpha-fodrin)
80.67(n)
 
X06042.1
zebrafish (Danio rerio)
Actinopterygii
wufa20e052
Transcribed sequence with strong similarity to protein more
81.02(n)
 
CA473456.1
fruit fly (Drosophila melanogaster)
Insecta
alpha-Spec1 , 3
cytoskeleton organization and biogenesis actin more 3 alpha Spectrin1
64(a) 3 64.59(n) 1 66.03(a) 1
 
62B43 38231 1 NM_057391.3 1 NP_476739.1 1
worm (Caenorhabditis elegans)
Secernentea
spc-11 , 3
spectrin alpha chain3 Protein SPC-11
57(a) 3 60.35(n) 1 59.95(a) 1
 
X(3153244-3162361)3 180603 1 NM_076136.4 1 NP_508537.1 1
ENSEMBL Gene Tree for SPTAN1 (if available)TreeFam Gene Tree for SPTAN1 (if available)
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Paralogsfor SPTAN1 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for SPTAN1 gene ACTN4 2 SPTBN2 2 SPTA1 2 SYNE2 2 SPTBN4 2 SPTBN1 2 SPTB 2 SPTBN5 2 ACTN2 2 ACTN1 2 SYNE1 2 CLMN 2 14 SIMAP similar genes for SPTAN1 using alignment to 3 protein entries: SPTN1_HUMAN (see all proteins ):DKFZp564P0562 SPTA1 NCK2 ARHGEF7 SPTB ACTN1 SH3GL1 ACTN4 HSpTB1 ACTN3 CALM1 CALM2 CALM3 CALML3
SPTAN1 for paralogs About GeneDecksing 1 Pseudogenes.org Pseudogene for SPTAN1 PGOHUM00000249590
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Genomic Variantsfor SPTAN1 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 9 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for SPTAN1 (131314866 - 131395941 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for SPTAN1 1 Indel : 13202 Human Gene Mutation Database (HGMD) : SPTAN1 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing SPTAN1
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Disorders
/ Diseasesfor SPTAN1 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
SPTAN1 for disorders About GeneDecksing OMIM gene information: 182810 OMIM disorders : 613477 UniProtKB/Swiss-Prot: SPTN1_HUMAN, Q13813
Defects in SPTAN1 are the cause of epileptic encephalopathy early infantile type 5 (EIEE5) [MIM:613477]. EIEE5 is a disorder characterized by seizures associated with hypsarrhythmia profound mental retardation with lack of visual attention and speech development, as well as spastic quadriplegia 20/36 diseases for SPTAN1 (see all 36 ): About MalaCards epileptic encephalopathy, early infantile, 5 infantile epileptic encephalopathy limb-girdle muscular dystrophy traumatic brain injury spastic quadriplegia quadriplegia brain injury sjogren's syndrome fanconi's anemia lupus erythematosus muscular dystrophy merrf syndrome systemic lupus erythematosus migraine with aura head injury rheumatoid arthritis neurodegenerative disease west syndrome migraine spasticity 10/17 Novoseek disease relationships for SPTAN1 gene (see all 17 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
sjogrens syndrome
79.8
31
9808203 (4), 12848967 (3), 11665980 (3), 11313424 (2) (see all 12 )
sjogrens syndrome primary
67.9
8
12673889 (2), 11246678 (1), 10972902 (1), 9110981 (1) (see all 6 )
fanconis anemia
62.5
3
10551855 (1), 19102630 (1), 12893251 (1)
xerostomia
52.4
3
17894005 (2)
autoimmune diseases
52.1
5
11093442 (1), 12815278 (1), 14994394 (1), 15762888 (1)
lupus erythematosus systemic
36.2
4
11093442 (1), 12673889 (1), 14994395 (1), 14994394 (1)
autoimmunity
35.3
3
12673889 (1), 16505031 (1), 10078005 (1)
rheumatoid arthritis
18.5
3
17160656 (1), 11093442 (1), 14994395 (1)
neurodegenerative diseases
6.96
1
16505031 (1)
necrosis
4.48
7
9624143 (2), 8940132 (2), 8940103 (1), 19771521 (1)
Human Genome Epidemiology (HuGE) Navigator: SPTAN1 (5 documents) Export disorders for SPTAN1 gene to outside databases
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Publicationsfor SPTAN1 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for SPTAN1 gene, integrated from 9 sources (see all 225 ): (articles sorted by number of sources associating them with SPTAN1) Utopia : connect your pdf to the dynamic world of online information
Brain and muscle express a unique alternative transcript of alphaII spectrin. (PubMed id 10625438) 1 , 2 , 9 Cianci C.D.... Morrow J.S. (1999) Site-directed mutagenesis of alpha II spectrin at codon 1175 modulates its mu-calpain susceptibility. (PubMed id 8993318) 1 , 2 , 9 Stabach P.R.... Morrow J.S. (1997) Emerin caps the pointed end of actin filaments: evidence for an actin cortical network at the nuclear inner membrane. (PubMed id 15328537) 1 , 2 , 9 Holaska J.M.... Wilson K.L. (2004) Generation of diversity in nonerythroid spectrins. Multiple polypeptides are predicted by sequence analysis of cDNAs encompassing the coding region of human nonerythroid alpha-spectrin. (PubMed id 2307671) 1 , 2 , 9 Moon R.T. and McMahon A.P. (1990) Dominant-negative mutations in alpha-II spectrin caus e West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. (PubMed id 20493457) 1 , 2 Saitsu H....Matsumoto N. (2010) Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983) 1 , 2 Olsen J.V....Mann M. (2006) DNA sequence and analysis of human chromosome 9. (PubMed id 15164053) 1 , 2 Humphray S.J.... Dunham I. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 1 , 2 Gerhard D.S....Malek J. (2004) Tyrosine phosphorylation regulates alpha II spectrin cleavage by calpain. (PubMed id 11971983) 1 , 2 Nicolas G....Lecomte M.-C. (2002) Cloning, expression and characterization of two putative calcium- binding sites in human non-erythroid alpha-spectrin. (PubMed id 7607240) 1 , 2 Lundberg S.... Backman L. (1995)
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External Searches for SPTAN1 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing SPTAN1 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing SPTAN1 gene
(According to HUGE )
About This Section --
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Specialized Databases showing SPTAN1 gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description
PharmGKB entry for SPTAN1 Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for SPTAN1 gene: Search GeneIP for patents involving SPTAN1 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor SPTAN1 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
OriGene Antibodies for SPTAN1 Browse OriGene shRNA RFPs OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for SPTAN1 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for SPTAN1 Browse OriGene Protein Over-expression Lysates Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for SPTAN1 OriGene 3'-UTR Clone for SPTAN1 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SPTAN1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for SPTAN1 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for SPTAN1 OriGene Custom Protein Services for SPTAN1 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SPTAN1 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing SPTAN1 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat SPTAN1 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat SPTAN1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat SPTAN1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat SPTAN1
Antibodies & Assays for SPTAN1  
Search Tocris compounds for SPTAN1
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTAN1
ThermoFisher Antibodies for SPTAN1
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat SPTAN1
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