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SPTA1 Gene

protein-coding   GIFtS: 61
GCID: GC01M158580

Spectrin, Alpha, Erythrocytic 1 (Elliptocytosis 2)

  See SPTA1-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 vitreous disease, and elliptocytosis 2. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   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 Chromatin IP Primers for SPTA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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:
158,580,496 bp from pter      End:
158,656,506 bp from pter
Size:
76,011 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • Ubiquitination2 at Lys1803
  • Modification sites at PhosphoSitePlus

  • See SPTA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003117.2  
    ENSEMBL proteins: 
     ENSP00000357129   ENSP00000476485  
    Reactome Protein details: P02549

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

    Selected InterPro protein domains (see all 7):
     IPR014837 EF-hand_Ca_insen
     IPR013315 Spectrin_alpha_SH3
     IPR002017 Spectrin_repeat
     IPR011992 EF-hand-dom_pair
     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


    Find genes that share domains with SPTA1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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
         
    Find genes that share ontologies with SPTA1           About GenesLikeMe


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 8 alleles(MGI details for Spta1) (see all 16):
     behavior/neurological  cardiovascular system  digestive/alimentary  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 
     nervous system  pigmentation  renal/urinary system  reproductive system  respiratory system 

    Find genes that share phenotypes with SPTA1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SPTA1

    miRNA
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    miRTarBase miRNAs that target SPTA1:
    hsa-mir-124-3p (MIRT022113)

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    1 qRT-PCR Assays for microRNA that regulate SPTA1:
    hsa-miR-607
    SwitchGear 3'UTR luciferase reporter plasmidSPTA1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SPTA1_HUMAN, P02549: Cytoplasm, cytoskeleton. Cytoplasm, cell cortex
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    plasma membrane4
    nucleus2
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0008091spectrin TAS1634521
    GO:0014731spectrin-associated cytoskeleton IDA379653
    GO:0015629actin cytoskeleton TAS10950304
    GO:0016020membrane ----

    Find genes that share ontologies with SPTA1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SPTA1 About    
    See pathways by source

    SuperPathContained pathways About
    1L1CAM interactions
    Axon guidance0.63
    L1CAM interactions0.36
    Developmental Biology0.63
    2Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Epithelial Tight Junctions0.36
    3NCAM signaling for neurite out-growth
    NCAM signaling for neurite out-growth0.59
    4Interaction between L1 and Ankyrins
    Interaction between L1 and Ankyrins


    Find genes that share SuperPaths with SPTA1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    2 Reactome Pathways for SPTA1
        Interaction between L1 and Ankyrins
    NCAM signaling for neurite out-growth


        Pathway & Disease-focused RT2 Profiler PCR Array including SPTA1: 
              Tight Junctions in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SPTA1

    Selected Interacting proteins for SPTA1 (P025491, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABI1Q8IZP01, 3EBI-375617,EBI-375446 I2D: score=3 
    ENAHQ8N8S72, 3MINT-7211734 I2D: score=2 
    EVLQ9UI082, 3MINT-7211703 I2D: score=2 
    SPTBN1Q010821, 3EBI-375617,EBI-351561 I2D: score=2 
    VASPP505522, 3MINT-7211723 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (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--

    Find genes that share ontologies with SPTA1           About GenesLikeMe



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

    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)



    Find genes that share compounds with SPTA1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368147 ENST00000485680 ENST00000481212 ENST00000498708 ENST00000492934
    ENST00000484520 ENST00000461624 ENST00000465741 ENST00000467387
    miRNA
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    hsa-miR-607
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      QuantiFast Probe-based Assays in human, mouse, rat SPTA1

    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 

    Selected AceView cDNA sequences (see all 68):

    BX500921 AI133071 BX643535 BU665064 AI057065 BX500920 AF060556 AL601678 
    AA704876 W84703 R84621 BX495295 BX500889 M61877 AL691716 AL691717 
    BX500936 AW950278 BX643566 H90842 H79671 BX112770 T28020 AL601620 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SPTA1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 4) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Proerythroblasts Hematopoietic Bone Marrow
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Heart (Cardiovascular System)
     
     Lung (Respiratory System)
    SPTA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPTA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.119825
        Pathway & Disease-focused RT2 Profiler PCR Array including SPTA1: 
              Tight Junctions in human mouse rat

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    In Situ
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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for SPTA1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spta11 , 5 spectrin alpha 15
    spectrin alpha, erythrocytic 11
    81.89(n)1
    80.71(a)1
      1 (80.97 cM)5
    207391  NM_011465.41  NP_035595.21 
     1741727765 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    12(a)
    many ↔ many
    AAWZ02036914(5675-20612)
    zebrafish
    (Danio rerio)
    Actinopterygii syne1a6
    spectrin repeat containing, nuclear envelope 1a
    5(a)
    many ↔ many
    20(26125137-26389041) ENSDARG00000009499


    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)
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    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 5 protein entries:     SPTA1_HUMAN (see all proteins):
    SPTAN1    DKFZp564P0562    SPTB    ACTN1    HSpTB1    SPTBN1

    Find genes that share paralogs with SPTA1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SPTA1 (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
    ----------
    rs74189561,2,,4
    C,FElliptocytosis 2 (EL2)4 pathogenic1165131430(+) AGAAGG/TTCTAA 2 E D mis1 ese38Minor allele frequency- T:0.04NA NS EA CSA WA 619
    rs1219186431,2,,4
    CHereditary pyropoikilocytosis (HPP)4 pathogenic1165149275(-) GGAGCC/TGGTAG 2 P L mis10--------
    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--------
    rs289340041,2,4
    Elliptocytosis 2 (EL2)4--see VAR_0013252 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--------

    HapMap Linkage Disequilibrium report for SPTA1 (158580496 - 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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SPTA1
    DNA2.0 Custom Variant and Variant Library Synthesis for SPTA1

    (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.)
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    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

  • 10 diseases for SPTA1:    
    About MalaCards
    vitreous disease    elliptocytosis 2    spherocytosis, type 3    spta1-related spherocytosis
    pyropoikilocytosis hereditary    pyropoikilocytosis    hereditary elliptocytosis    spherocytosis, hereditary, type 5
    hereditary spherocytosis    hypophosphatasia

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

    Find genes that share disorders with SPTA1           About GenesLikeMe

    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

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    PubMed articles for SPTA1 gene, integrated from 10 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. (J. Biol. Chem. 1990)
    2. The first human alpha-spectrin structural domain begins with serine. (PubMed id 7929303)1, 2, 9 Lusitani D.M.... Fung L.W.-M. (J. Biol. Chem. 1994)
    3. Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis. (PubMed id 8844207)1, 2, 9 Maillet P.... Delaunay J. (Hum. Mutat. 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. (J. Clin. Invest. 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. (Mol. Med. 2010)
    6. Common variants at 10 genomic loci influence hemoglobin Aa88(C) levels via glycemic and nonglycemic pathways. (PubMed id 20858683)1, 4 Soranzo N....Meigs J.B. (Diabetes 2010)
    7. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. (PubMed id 19862010)1, 4 Ganesh S.K....Lin J.P. (Nat. Genet. 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. (BMC Immunol. 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. (Br. J. Haematol. 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. (Blood 1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 6708 HGNC: 11272 AceView: SPTA1 Ensembl:ENSG00000163554 euGenes: HUgn6708
    ECgene: SPTA1 H-InvDB: SPTA1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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

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    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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