SPTA1 Gene
protein-coding GIFtS: 60
GCID: GC01M158580
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|
spectrin, alpha, erythrocytic 1 (elliptocytosis 2)
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Aliases for SPTA1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Spectrin, Alpha, Erythrocytic 1 (Elliptocytosis 2)1 2 | | HS32 5 | | EL21 2 5 | | SPH32 5 | | Erythroid Alpha-Spectrin2 3 | | Alpha-I Spectrin2 | | SPTA2 3 | | Spectrin Alpha Chain, Erythrocyte2 | | HPP2 5 | | Spectrin Alpha Chain, Erythrocytic 12 |
Export aliases for SPTA1 gene to outside databasesPrevious GC identifers: GC01M156372 GC01M154312 GC01M155358 GC01M155797 GC01M155393 GC01M156846 GC01M129938 |
Summaries for SPTA1 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 SPTA1: Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actincytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, andorganization of organelles. It is a tetramer made up of alpha-beta dimers linked in a head-to-head arrangement. Thisgene is one member of a family of alpha-spectrin genes. The encoded protein is primarily composed of 22 spectrinrepeats which are involved in dimer formation. It forms weaker tetramer interactions than non-erythrocytic alphaspectrin, which may increase the plasma membrane elasticity and deformability of red blood cells. Mutations in thisgene result in a variety of hereditary red blood cell disorders, including elliptocytosis type 2, pyropoikilocytosis,and spherocytic hemolytic anemia. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: SPTA1_HUMAN, P02549Function: Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. Itassociates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane Gene Wiki entry for SPTA1 (Spectrin, alpha 1)
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Genomic Views for SPTA1 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_000001.10 NC_018912.1 NT_004487.19
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the SPTA1 gene promoter: C/EBPbeta Brachyury XBP-1 Ik-3 E4BP4 GATA-1 PPAR-gamma1 FOXJ2 (long isoform) PPAR-gamma2 FOXJ2 Other transcription factors
Search SABiosciences Chromatin IP Primers for SPTA1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPTA1 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1q21 Ensembl cytogenetic band: 1q23.1 HGNC cytogenetic band: 1q21SPTA1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01M158580: view genomic region
(about GC identifiers)
Start:
|
158,580,278 bp from pter |
End:
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158,656,506 bp from pter |
Size:
|
76,229 bases |
Orientation:
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minus strand |
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Proteins for SPTA1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
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: SPTA1_HUMAN, P02549 (See
protein sequence)Recommended Name: Spectrin alpha chain, erythrocytic 1 Size: 2419 amino acids; 280014 Da
Subunit: Composed of non-homologous chains, alpha and beta, which aggregate side-to-side in an antiparallel fashion toform dimers, tetramers, and higher polymers. Interacts with FASLG
Subcellular location: Cytoplasm, cytoskeleton. Cytoplasm, cell cortex
Miscellaneous: This complex is anchored to the cytoplasmic face of the plasma membrane via another protein, ankyrin,which binds to beta-spectrin and mediates the binding of the whole complex to a transmembrane protein band 3. Theinteraction of erythrocyte spectrin with other proteins through specific binding domains lead to the formation of anextensive subplasmalemmal meshwork which is thought to be responsible for the maintenance of the biconcave shape ofhuman erythrocytes, for the regulation of plasma membrane components and for the maintenance of the lipid asymmetry ofthe plasma membrane
2 PDB 3D structures from and Proteopedia for SPTA1:1OWA (3D)
  3LBX (3D)
 
Secondary accessions: Q15514 Q5VYL1 Q5VYL2 Q6LDY5Alternative splicing: 2 isoforms: P02549-1 P02549-2 (Gene prediction based on EST data)Explore the universe of human proteins at neXtProt for SPTA1: NX_P02549
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P02549 SPTA1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_003117.2 ENSEMBL proteins: ENSP00000357130 ENSP00000357129 Reactome Protein details: P02549 Human Recombinant Protein Products:
Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table
SPTA1 for ontologies About GeneDecksing
SPTA1 Antibody Products: Assay Products for SPTA1: |
Protein
Domains / Families for SPTA1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SPTA1 for domains About GeneDecksing
5/7 InterPro domains/families (see all 7):Graphical View of Domain Structure for InterPro Entry P02549ProtoNet protein and cluster: P02549 2 Blocks protein families: IPB001452 SH3 domain signature IPB002017 Spectrin repeat
UniProtKB/Swiss-Prot: SPTA1_HUMAN, P02549Similarity: Belongs to the spectrin familySimilarity: Contains 3 EF-hand domainsSimilarity: Contains 1 SH3 domainSimilarity: Contains 21 spectrin repeats |
Function for SPTA1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
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: SPTA1_HUMAN, P02549Function: Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. Itassociates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane Genatlas biochemistry entry for SPTA1:spectrin,alpha,erythrocytic 1,intermediate filament associated protein (IFAP,type III),dimerizing andheteropolymerizing components of the core structure of the membrane skeleton
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 SPTA1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SPTA1 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: SPTA1 (NM_003126) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SPTA1 | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SPTA1  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTA1 |
Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table
SPTA1 for ontologies About GeneDecksing
Animal Models: 15/17 MGI mutant phenotypes (inferred from 8 alleles ) (MGI details for Spta1) (see all 17):
SPTA1 for phenotypes About GeneDecksing
|
Pathways & Interactions for SPTA1 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 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways  About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Axon guidance | | | 2 | Sertoli-Sertoli Cell Junction Dynamics | | | 3 | Interaction between L1 and Ankyrins | | | 4 | NCAM signaling for neurite out-growth | |
Pathway sources See GeneCards unified pathways Show all pathways
2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SPTA1 5
Reactome Pathways for SPTA1
SPTA1 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SPTA1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
 5/47 Interacting proteins for SPTA1 (P025491, 2, 3 ENSP000003571304) via UniProtKB, MINT, STRING, and/or I2D (see all 47)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| ABI1 | Q8IZP01, 3, ENSP000003653124 | EBI-375617,EBI-375446 I2D:
score=3 STRING: ENSP00000365312 | | EVL | Q9UI082, 3, ENSP000003766524 | MINT-7211703 I2D:
score=2 STRING: ENSP00000376652 | | VASP | P505522, 3, ENSP000002459324 | MINT-7211723 I2D:
score=2 STRING: ENSP00000245932 | | ENAH | Q8N8S72, 3, ENSP000003558094 | MINT-7211734 I2D:
score=2 STRING: ENSP00000355809 | | SPTBN1 | Q010821, 3, ENSP000003492594 | EBI-375617,EBI-1642531 I2D:
score=2 STRING: ENSP00000349259 | About this table
Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table
SPTA1 for ontologies About GeneDecksing
|
Drugs & Compounds for SPTA1 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
|
SPTA1 for compounds About GeneDecksing
Browse Tocris compounds for SPTA1 1 Novoseek chemical compound relationship for SPTA1 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| calcium |
0 |
1 |
1610814 (1) |
Search CenterWatch for drugs/clinical trials and news about SPTA1 
|
Transcripts for SPTA1 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 SPTA1 gene: NM_003126.2 Unigene Cluster for SPTA1: Spectrin, alpha, erythrocytic 1 (elliptocytosis 2) Hs.119825 [show with all ESTs]Unigene Representative Sequence: NM_00312610 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000368148(uc001fst.1) ENST00000368147 ENST00000485680 ENST00000481212 ENST00000498708 ENST00000492934 ENST00000484520 ENST00000461624 ENST00000465741 ENST00000467387
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SPTA1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SPTA1 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: SPTA1 (NM_003126) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SPTA1 | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SPTA1  |
Additional cDNA sequence: AF060556.1 M11049.1 M61877.1 10 DOTS entries: DT.314015 DT.100017492 DT.302775 DT.101972986 DT.427317 DT.100740188 DT.314016 DT.95278914 DT.75192682 DT.95152630 24/68 AceView cDNA sequences (see all 68): BX643535 R84621 AL601678 BX500921 AA704876 W84703 AI057065 AF060556 BU665064 AI133071 BX500920 BX470303 AI248703 BV188274 AI248420 M11049 BX507470 H79671 BX643566 BX500889 BX502667 NM_003126 AA699804 H90842 GeneLoc Exon Structure
|
Expression for SPTA1 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
| SPTA1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: GTATAGTAGA
About this image See SPTA1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for SPTA1
SOURCE GeneReport for Unigene cluster: Hs.119825 SABiosciences Expression via Pathway-Focused PCR Array including SPTA1:
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SPTA1 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SPTA1 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPTA1 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPTA1 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTA1 |
Orthologs for SPTA1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl 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 SPTA1 gene from 4/20 species (see all 20) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
lizard (Anolis carolinensis) |
Reptilia |
SYNE16 |
-- |
3(a) |
possible ortholog |
AAWZ02036914(5856-20000) |
zebrafish (Danio rerio) |
Actinopterygii |
spna26CABZ01070007.16 |
-- |
54(a)24(a) |
1 ↔ manypossible ortholog |
21(11352584-11419552) 11(44132223-44140551) |
fruit fly (Drosophila melanogaster) |
Insecta |
alpha-Spec6 |
alpha Spectrin |
46(a) |
1 → many |
3L(1778485-1795328) |
worm (Caenorhabditis elegans) |
Secernentea |
C50C3.23 |
Spectrin alpha chain |
18(a) |
  |
III(8253674-8261053) -- |
ENSEMBL Gene Tree for SPTA1 (if available) TreeFam Gene Tree for SPTA1 (if available)  |
Paralogs for SPTA1 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for SPTA1 gene
- ACTN42 SPTBN22 SYNE22 SPTBN42 SPTBN12 SPTB2 SPTBN52 ACTN22
- SPTAN12 ACTN12 SYNE12 CLMN2
5 SIMAP similar genes for SPTA1 using alignment to 4 protein entries: SPTA1_HUMAN (see all proteins):SPTAN1 DKFZp564P0562 SPTB ACTN1 HSpTB1
SPTA1 for paralogs About GeneDecksing
|
Genomic Variants for SPTA1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
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 1 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for SPTA1 (158580278 - 158656506 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 3 variations for SPTA1 3 Indels: 23980 44456 60893 Human Gene Mutation Database (HGMD): SPTA1
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SPTA1 |
|
Disorders
/ Diseases for SPTA1 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
|
SPTA1 for disorders About GeneDecksing
OMIM gene information: 182860 OMIM disorders: 130600 266140 270970 UniProtKB/Swiss-Prot: SPTA1_HUMAN, P02549
Defects in SPTA1 are the cause of elliptocytosis type 2 (EL2) [MIM:130600]. EL2 is a Rhesus-unlinked form ofhereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterizedby variable hemolytic anemia and elliptical or oval red cell shape Defects in SPTA1 are a cause of hereditary pyropoikilocytosis (HPP) [MIM:266140]. HPP is an autosomalrecessive disorder characterized by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermalsensitivity of red cells Defects in SPTA1 are the cause of spherocytosis type 3 (SPH3) [MIM:270970]; also known as hereditaryspherocytosis type 3 (HS3). Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia andcharacterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH3 is characterized bysevere hemolytic anemia. Inheritance is autosomal recessive 20/22 diseases for SPTA1 (see all 22): About MalaCardselliptocytosis pyropoikilocytosis elliptocytosis 2 hemolytic anemia spherocytosis, type 3 anemia spherocytosis hydrops fetalis pyropoikilocytosis hereditary traumatic brain injury hereditary elliptocytosis brain injury beta thalassemia hereditary spherocytosis b-cell lymphomas hypophosphatasia fanconi's anemia thalassemia osteomalacia rickets
5 diseases from the University of Copenhagen DISEASES database for SPTA1:Hereditary elliptocytosis Hypophosphatasia Rickets Anemia Osteomalacia 2 Novoseek disease relationships for SPTA1 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| elliptocytosis hereditary |
90.2 |
3 |
10192450 (1), 9354690 (1), 12432217 (1) |
| spherocytosis hereditary |
83.9 |
2 |
16617750 (1), 12432217 (1) |
Human Genome Epidemiology (HuGE) Navigator: SPTA1 (3 documents) Export disorders for SPTA1 gene to outside databases
|
Publications for SPTA1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for SPTA1 gene, integrated from 9 sources (see all 134): (articles sorted by number of sources associating them with SPTA1) | |  | Utopia: connect your pdf to the dynamic world of online information |
- The complete cDNA and polypeptide sequences of human erythroid alpha- spectrin. (PubMed id 1689726)1, 2, 9 Sahr K.E.... Forget B.G. (1990)
- The first human alpha-spectrin structural domain begins with serine. (PubMed id 7929303)1, 2, 9 Lusitani D.M.... Fung L.W. (1994)
- Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis. (PubMed id 8844207)1, 2, 9 Maillet P.... Delaunay J. (1996)
- Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46. (PubMed id 8486776)1, 2, 9 Wilmotte R.... Alloisio N. (1993)
- Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PubMed id 19807924)1, 2 Voss M....Janssen O. (2009)
- Spectrin Anastasia (alpha I/78): a new spectrin variant (alpha 45 Arg-->Thr) with moderate elliptocytogenic potential. (PubMed id 7772539)1, 2 Perrotta S.... del Giudice E.M. (1995)
- Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site. (PubMed id 8018926)1, 2 Parquet N.... Garbarz M. (1994)
- Mild elliptocytosis associated with the alpha 34 Arg-->Trp mutation in spectrin Genova (alpha I/74). (PubMed id 8193371)1, 2 Perrotta S.... Lolascon A. (1994)
- Spectrin Cagliari: an Ala-->Gly substitution in helix 1 of beta spectrin repeat 17 that severely disrupts the structure and self- association of the erythrocyte spectrin heterodimer. (PubMed id 8226774)1, 2 Sahr K.E.... Palek J. (1993)
- Elliptopoikilocytosis associated with the alpha 469 His-->Pro mutation in spectrin Barcelona (alpha I/50-46b). (PubMed id 8364215)1, 2 dalla Venezia N.... Delaunay J. (1993)
|
External Searches for SPTA1 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing SPTA1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SPTA1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SPTA1 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
|
|
About This Section
| Patent Information for SPTA1 gene: Search GeneIP for patents involving SPTA1
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for SPTA1 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
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| | | | Browse OriGene Antibodies | | OriGene shRNA RFP for SPTA1 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SPTA1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SPTA1 | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for SPTA1 | | OriGene 3'-UTR Clone for SPTA1 | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SPTA1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SPTA1 | | 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 SPTA1 | | OriGene Custom Protein Services for SPTA1 | | OriGene Custom Immunoassay Development | | |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SPTA1 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SPTA1 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPTA1 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SPTA1 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPTA1 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPTA1 |
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| | | Search Tocris compounds for SPTA1 |
| |  |  |  |  | | | | | Recombinant Protein for SPTA1 |
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 | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTA1 |
|  |  |  | | | ThermoFisher Antibodies for SPTA1 |
| | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SPTA1 |
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