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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SPTA1 Gene

protein-coding   GIFtS: 61
GCID: GC01M158580

Spectrin, Alpha, Erythrocytic 1 (Elliptocytosis 2)

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Spectrin, Alpha, Erythrocytic 1 (Elliptocytosis 2)1 2     HS32 5
Erythroid Alpha-Spectrin2 3     SPH32 5
SPTA2 3     Alpha-I Spectrin2
EL22 5     Spectrin Alpha Chain, Erythrocyte2
HPP2 5     Spectrin Alpha Chain, Erythrocytic 12

External Ids:    HGNC: 112721   Entrez Gene: 67082   Ensembl: ENSG000001635547   OMIM: 1828605   UniProtKB: P025493   

Export aliases for SPTA1 gene to outside databases

Previous GC identifers: GC01M156372 GC01M154312 GC01M155358 GC01M155797 GC01M155393 GC01M156846 GC01M129938


(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 Gene:
Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin
cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and
organization of organelles. It is a tetramer made up of alpha-beta dimers linked in a head-to-head arrangement.
This gene is one member of a family of alpha-spectrin genes. The encoded protein is primarily composed of 22
spectrin repeats which are involved in dimer formation. It forms weaker tetramer interactions than
non-erythrocytic alpha spectrin, which may increase the plasma membrane elasticity and deformability of red blood
cells. Mutations in this gene result in a variety of hereditary red blood cell disorders, including
elliptocytosis type 2, pyropoikilocytosis, and spherocytic hemolytic anemia. (provided by RefSeq, Jul 2008)

GeneCards Summary for SPTA1 Gene: 
SPTA1 (spectrin, alpha, erythrocytic 1 (elliptocytosis 2)) is a protein-coding gene. Diseases associated with SPTA1 include pyropoikilocytosis, and homozygous hereditary elliptocytosis, and among its related super-pathways are NCAM signaling for neurite out-growth and Axon guidance. GO annotations related to this gene include structural constituent of cytoskeleton and calcium ion binding. An important paralog of this gene is ACTN4.

UniProtKB/Swiss-Prot: SPTA1_HUMAN, P02549
Function: Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma
membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma
membrane

Gene Wiki entry for SPTA1 (Spectrin, alpha 1) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  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

SwitchGear Promoter luciferase reporter plasmidSPTA1 promoter sequence
   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: 1q21

SPTA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPTA1 gene location

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:
158,656,506 bp from pter
Size:
76,229 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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 to form 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. The interaction of erythrocyte spectrin with other proteins through specific binding domains lead to the
formation of an extensive subplasmalemmal meshwork which is thought to be responsible for the maintenance of the
biconcave shape of human erythrocytes, for the regulation of plasma membrane components and for the maintenance
of the lipid asymmetry of the plasma membrane
2 PDB 3D structures from and Proteopedia for SPTA1:
1OWA (3D)        3LBX (3D)    
Secondary accessions: Q15514 Q5VYL1 Q5VYL2 Q6LDY5
Alternative 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

Explore proteomics data for SPTA1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P02549

  • SPTA1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SPTA1 Protein Expression
    REFSEQ proteins: NP_003117.2  
    ENSEMBL proteins: 
     ENSP00000357130   ENSP00000357129  
    Reactome Protein details: P02549
    Human Recombinant Protein Products for SPTA1: 
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    ProSpec Recombinant Protein for SPTA1
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0008091spectrin IEA--
    GO:0014731spectrin-associated cytoskeleton IDA379653
    GO:0015629actin cytoskeleton TAS10950304
    GO:0016020membrane ----

    SPTA1 for ontologies           About GeneDecksing



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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    EFHAND: EF-hand domain containing

    5/7 InterPro protein domains (see all 7):
     IPR014837 EF-hand_Ca_insen
     IPR013315 Spectrin_alpha_SH3
     IPR002017 Spectrin_repeat
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_dom

    Graphical View of Domain Structure for InterPro Entry P02549

    ProtoNet protein and cluster: P02549

    2 Blocks protein domains:
    IPB001452 SH3 domain signature
    IPB002017 Spectrin repeat


    UniProtKB/Swiss-Prot: SPTA1_HUMAN, P02549
    Similarity: Belongs to the spectrin family
    Similarity: Contains 3 EF-hand domains
    Similarity: Contains 1 SH3 domain
    Similarity: Contains 21 spectrin repeats


    SPTA1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SPTA1_HUMAN, P02549
    Function: Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma
    membrane. It associates 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 and
    heteropolymerizing components of the core structure of the membrane skeleton

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005200structural constituent of cytoskeleton TAS1634521
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI12820899
    GO:0046982protein heterodimerization activity IEA--
    GO:0051015actin filament binding TAS1634521
         
    SPTA1 for ontologies           About GeneDecksing


    Phenotypes:
         15/17 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Spta1) (see all 17):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  growth/size 
     hematopoietic system  homeostasis/metabolism  immune system  integument  liver/biliary system 
     mortality/aging  nervous system  pigmentation  renal/urinary system  reproductive system 

    SPTA1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SPTA1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SPTA1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SPTA1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SPTA1 

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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SPTA1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Developmental Biology
    Axon guidance0.70
    Developmental Biology0.70
    NCAM signaling for neurite out-growth0.70
    2Axon guidance
    Axon guidance0.69
    L1CAM interactions0.39
    Developmental Biology0.69
    3Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Epithelial Tight Junctions0.36
    4NCAM signaling for neurite out-growth
    NCAM signaling for neurite out-growth0.62
    5Interaction between L1 and Ankyrins
    Interaction between L1 and Ankyrins

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SPTA1
        Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions

    5/8        Reactome Pathways for SPTA1 (see all 8)
        L1CAM interactions
    Developmental Biology
    Interaction between L1 and Ankyrins
    Axon guidance
    NCAM signaling for neurite out-growth



    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)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABI1Q8IZP01, 3, ENSP000003653124EBI-375617,EBI-375446 I2D: score=3 STRING: ENSP00000365312
    EVLQ9UI082, 3, ENSP000003766524MINT-7211703 I2D: score=2 STRING: ENSP00000376652
    VASPP505522, 3, ENSP000002459324MINT-7211723 I2D: score=2 STRING: ENSP00000245932
    ENAHQ8N8S72, 3, ENSP000003558094MINT-7211734 I2D: score=2 STRING: ENSP00000355809
    SPTBN1Q010821, 3, ENSP000003492594EBI-375617,EBI-351561 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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002260lymphocyte homeostasis IEA--
    GO:0006779porphyrin-containing compound biosynthetic process IEA--
    GO:0007009plasma membrane organization IEA--
    GO:0007015actin filament organization TAS1634521
    GO:0007411axon guidance TAS--

    SPTA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SPTA1

    1 Novoseek inferred 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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, 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_003126
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368148(uc001fst.1) ENST00000368147 ENST00000485680 ENST00000481212
    ENST00000498708 ENST00000492934 ENST00000484520 ENST00000461624 ENST00000465741
    ENST00000467387
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    1 QIAGEN miScript miRNA Assays for microRNA that regulate SPTA1:
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    Inhib. RNA
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    Additional mRNA 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):

    AI133071 AA704876 AF060556 BX500920 W84703 AI057065 BX500921 AL601678 
    R84621 BX643535 BU665064 AL601620 AA704516 BX500936 BI462352 AL691717 
    AL691716 H90842 AA699804 NM_003126 BX502667 BX500889 BX643566 H79671 

    GeneLoc Exon Structure


    (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)      SPTA1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTATAGTAGA
    SPTA1 Expression
    About this image


    SPTA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 7 entries
             Proerythroblasts Hematopoietic Bone Marrow
             Fetal Liver CD36+ Cells   
             bone marrow mononuclear cells   
     
     Liver (Hepatobiliary System)
             Fetal Liver CD36+ Cells   
     
     Umbilical Cord (Extraembryonic Tissues)
             cord blood   
     
     Bone (Muscoskeletal System)
             bone marrow   
     
     Lung (Respiratory System)

    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: 
              Tight Junctions in human mouse rat

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    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 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 human and mouse.

    Orthologs for SPTA1 gene from 1/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spta15
    Spna11
    spectrin alpha 11, 5 81.89(n)1
    80.71(a)1
      1 (80.97 cM)5
    207391  NM_011465.41  NP_035595.21 
     1741727765 


    ENSEMBL Gene Tree for SPTA1 (if available)
    TreeFam Gene Tree for SPTA1 (if available)

    (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  SPTB2  SPTBN12  ACTN22  SPTBN52  
    SPTAN12  SYNE12  ACTN12  CLMN2  
    6 SIMAP similar genes for SPTA1 using alignment to 4 protein entries:     SPTA1_HUMAN (see all proteins):
    SPTAN1    DKFZp564P0562    SPTB    ACTN1    HSpTB1    SPTBN1

    SPTA1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/2323 SNPs in SPTA1 are shown (see all 2323)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0013334
    Elliptocytosis 2 (EL2)4--see VAR_0013332 R T mis40--------
    VAR_0013314
    Elliptocytosis 2 (EL2)4--see VAR_0013312 R W mis40--------
    VAR_0013304
    Elliptocytosis 2 (EL2)4--see VAR_0013302 R W mis40--------
    VAR_0013244
    Elliptocytosis 2 (EL2)4--see VAR_0013242 I S mis40--------
    VAR_0013374
    Elliptocytosis 2 (EL2)4--see VAR_0013372 G D mis40--------
    VAR_0013254
    Elliptocytosis 2 (EL2)4--see VAR_0013252 R H mis40--------
    VAR_0013414
    Elliptocytosis 2 (EL2)4--see VAR_0013412 S P mis40--------
    VAR_0013364
    Elliptocytosis 2 (EL2)4--see VAR_0013362 L F mis40--------
    VAR_0013294
    Elliptocytosis 2 (EL2)4--see VAR_0013292 V A mis40--------
    VAR_0013344
    Elliptocytosis 2 (EL2)4--see VAR_0013342 G V mis40--------

    HapMap Linkage Disequilibrium report for SPTA1 (158580278 - 158656506 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SPTA1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1284753CNV Deletion17803354
    esv2718607CNV Deletion23290073
    esv1958503CNV Deletion18987734
    dgv394n71CNV Loss21882294
    esv9069CNV Loss19470904


    Human Gene Mutation Database (HGMD): SPTA1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 182860   
    OMIM disorders: 130600  266140  270970  
    UniProtKB/Swiss-Prot: SPTA1_HUMAN, P02549
  • Elliptocytosis 2 (EL2) [MIM:130600]: A Rhesus-unlinked form of hereditary elliptocytosis, a genetically
    heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and
    elliptical or oval red cell shape. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Hereditary pyropoikilocytosis (HPP) [MIM:266140]: Autosomal recessive hematologic disorder characterized
    by hemolytic anemia, microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Spherocytosis 3 (SPH3) [MIM:270970]: Spherocytosis is a hematologic disorder leading to chronic hemolytic
    anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. SPH3 is
    characterized by severe hemolytic anemia. Inheritance is autosomal recessive. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 20/22 diseases for SPTA1 (see all 22):    About MalaCards
    pyropoikilocytosis    homozygous hereditary elliptocytosis    pyropoikilocytosis hereditary    spherocytosis, type 3
    common hereditary elliptocytosis    elliptocytosis 2    hereditary elliptocytosis    hypophosphatasia
    hemolytic anemia    hydrops fetalis    osteomalacia    anemia
    beta thalassemia    rickets    traumatic brain injury    visceral leishmaniasis
    thalassemia    brain injury    leishmaniasis    fanconi's anemia

    4 diseases from the University of Copenhagen DISEASES database for SPTA1:
    Hereditary elliptocytosis     Hypophosphatasia     Anemia     Rickets

    SPTA1 for disorders           About GeneDecksing

    2 Novoseek inferred 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)

    Genetic Association Database (GAD): SPTA1
    Human Genome Epidemiology (HuGE) Navigator: SPTA1 (3 documents)

    Export disorders for SPTA1 gene to outside databases

    (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 141):
    (articles sorted by number of sources associating them with SPTA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The complete cDNA and polypeptide sequences of human erythroid alpha- spectrin. (PubMed id 1689726)1, 2, 9 Sahr K.E.... Forget B.G. (1990)
    2. The first human alpha-spectrin structural domain begins with serine. (PubMed id 7929303)1, 2, 9 Lusitani D.M.... Fung L.W. (1994)
    3. Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis. (PubMed id 8844207)1, 2, 9 Maillet P.... Delaunay J. (1996)
    4. 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)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    6. Common variants at 10 genomic loci influence hemoglob in Aa88(C) levels via glycemic and nonglycemic pathways. (PubMed id 20858683)1, 4 Soranzo N....Ricketts S.L. (2010)
    7. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. (PubMed id 19862010)1, 4 Ganesh S.K....Lin J.P. (2009)
    8. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PubMed id 19807924)1, 2 Voss M....Janssen O. (2009)
    9. 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)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6708 HGNC: 11272 AceView: SPTA1 Ensembl:ENSG00000163554 euGenes: HUgn6708
    ECgene: SPTA1 H-InvDB: SPTA1

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for SPTA1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SPTA1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    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



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