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

ANK1 Gene

protein-coding   GIFtS: 64
GCID: GC08M041510

ankyrin 1, erythrocytic


(Previous symbol: ANK)
 Explore 24 diseases affiliated with
ANK1 via our new
 Human Malady Compendium 
Biological research products
for ANK1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Ankyrin 1, Erythrocytic1 2     SPH22 5
ANK1 2 3     Ankyrin-11
SPH11 2     Ankyrin-R3
Erythrocyte Ankyrin2 3     Ankyrin-R3
ANK-12 3     

External Ids:    HGNC: 4921   Entrez Gene: 2862   Ensembl: ENSG000000295347   OMIM: 6126415   UniProtKB: P161573   

Export aliases for ANK1 gene to outside databases

Previous GC identifers: GC08M042256 GC08M041539 GC08M041251 GC08M041528 GC08M041629 GC08M040038


(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 ANK1:
Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin
cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the
maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target
proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of
three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly
conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject
to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also
been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all
patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise
to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from
usage of an alternate promoter have also been identified. (provided by RefSeq, Dec 2008)

UniProtKB/Swiss-Prot: ANK1_HUMAN, P16157
Function: Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band
4.2, to Na-K ATPase, to the lymphocyte membrane protein GP85, and to the cytoskeletal proteins fodrin, tubulin,
vimentin and desmin. Erythrocyte ankyrins also link spectrin (beta chain) to the cytoplasmic domain of the
erythrocytes anion exchange protein; they retain most or all of these binding functions
Function: Isoform Mu17 together with obscurin in skeletal muscle may provide a molecular link between the sarcoplasmic
reticulum and myofibrils

Gene Wiki entry for ANK1


(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_000008.10  NC_018919.1  NT_167187.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ANK1 gene promoter:
         TBP   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ANK1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ANK1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ANK1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p11.1   Ensembl cytogenetic band:  8p11.21   HGNC cytogenetic band: 8p11.21

ANK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANK1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M041510:  view genomic region     (about GC identifiers)

Start:
41,510,739 bp from pter      End:
41,754,280 bp from pter
Size:
243,542 bases      Orientation:
minus strand

(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: ANK1_HUMAN, P16157 (See protein sequence)
Recommended Name: Ankyrin-1  
Size: 1881 amino acids; 206265 Da
Subunit: Interacts with a number of integral membrane proteins and cytoskeletal proteins. Interacts (via N-terminus)
with SPTB/spectrin (beta chain). Interacts (via N-terminus ANK repeats) with SLC4A1/erythrocyte membrane protein band
3 (via cytoplasmic N-terminus). Also interacts with TTN/titin. Isoform Mu17 interacts with OBSCN isoform 3/obscurin.
Interacts with HIF1AN
Subcellular location: Isoform Er1: Cytoplasm, cytoskeleton. Note=Probably the other erythrocyte (Er) isoforms, are
located near the surface of erythrocytic plasma membrane
Subcellular location: Isoform Mu17: Membrane. Cytoplasm, myofibril, sarcomere, M line. Note=Colocalizes with OBSCN
isoform 3/obscurin at the M line in differentiated skeletal muscle cells
Subcellular location: Isoform Mu18: Sarcoplasmic reticulum (Probable)
Subcellular location: Isoform Mu19: Sarcoplasmic reticulum (Probable)
Subcellular location: Isoform Mu20: Sarcoplasmic reticulum (Probable)
Sequence caution: Sequence=AAB47805.1; Type=Erroneous gene model prediction;
6/8 PDB 3D structures from and Proteopedia for ANK1 (see all 8):
1N11 (3D)        2YQF (3D)        2YVI (3D)        3F59 (3D)        3KBT (3D)        3KBU (3D)    
Secondary accessions: A0PJN8 A6NJ23 O43400 Q13768 Q53ER1 Q59FP2 Q8N604 Q99407
Alternative promoter usage, Alternative splicing: 22 isoforms:  P16157-1   P16157-4   P16157-5   P16157-6   P16157-3   P16157-7   P16157-8   P16157-9   
P16157-10   P16157-11   P16157-12   P16157-13   P16157-14   P16157-15   P16157-16   P16157-2   
P16157-17   P16157-18   P16157-19   P16157-20   P16157-21   P16157-22   (Produced by alternative splicing)

Explore the universe of human proteins at neXtProt for ANK1: NX_P16157

Post-translational modifications:

  • Regulated by phosphorylation1
  • Palmitoylated1
  • Hydroxylated by HIF1AN at several asparagine and 1 aspartate residue within ANK repeat region. Hydroxylation seems to
  • increase the conformational stability of this region and may also modulate protein-protein interactions mediated by
    the ANK repeat region1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P16157

  • ANK1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (8 alternative transcripts): 
    NP_000028.3  NP_001135917.1  NP_001135918.1  NP_065208.2  NP_065209.2  NP_065210.2  NP_065211.2  NP_065213.2  

    ENSEMBL proteins: 
     ENSP00000339620   ENSP00000289734   ENSP00000428750   ENSP00000430368   ENSP00000319123  
     ENSP00000430174   ENSP00000265709   ENSP00000297744   ENSP00000335031   ENSP00000428315  
     ENSP00000369082   ENSP00000380149   ENSP00000403589   ENSP00000380147   ENSP00000309131  
    Reactome Protein details: P16157
    Human Recombinant Protein Products: 
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    Novus Biologicals ANK1 Protein
    Novus Biologicals ANK1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ANK1

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton NAS1833445
    GO:0005886plasma membrane NAS9430667
    GO:0014731spectrin-associated cytoskeleton IDA379653
    GO:0016020membrane ----


    ANK1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ANK1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ANK1 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR011029 DEATH-like_dom
     IPR000488 Death_domain
     IPR000906 ZU5
     IPR020683 Ankyrin_rpt-contain_dom
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry P16157

    ProtoNet protein and cluster: P16157

    3 Blocks protein families:
    IPB000488 Death domain
    IPB000906 ZU5 domain
    IPB002110 Ankyrin repeat signature


    UniProtKB/Swiss-Prot: ANK1_HUMAN, P16157
    Domain: The 55 kDa regulatory domain is involved in regulating binding of SPTB/spectrin (beta chain) and
    SLC4A1/erythrocyte membrane protein band 3
    Domain: The ANK repeat region forms a spiral around a large central cavity and is involved in binding of ion
    transporters
    Domain: The tandem configuration of the two ZU5 and the UPA domains forms a structural supramodule termed ZZU. ZU5-1
    mediates interaction with beta-spectrin, and the ZU5-1/UPA interface is required for ankyrin's function other than
    binding to spectrin (By similarity)
    Similarity: Contains 23 ANK repeats
    Similarity: Contains 1 death domain
    Similarity: Contains 2 ZU5 domains


    (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: ANK1_HUMAN, P16157
    Function: Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band
    4.2, to Na-K ATPase, to the lymphocyte membrane protein GP85, and to the cytoskeletal proteins fodrin, tubulin,
    vimentin and desmin. Erythrocyte ankyrins also link spectrin (beta chain) to the cytoplasmic domain of the
    erythrocytes anion exchange protein; they retain most or all of these binding functions
    Function: Isoform Mu17 together with obscurin in skeletal muscle may provide a molecular link between the sarcoplasmic
    reticulum and myofibrils

         Genatlas biochemistry entry for ANK1:
    ankyrin 1,206kDa,erythrocyte membrane protein,intermediate filament associated protein (IFAP,type III),also expressed
    in neural tissue and skeletal muscle

    miRNA
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    hsa-miR-607 hsa-miR-128 hsa-miR-759 hsa-miR-4267 hsa-miR-10b* hsa-miR-877* hsa-miR-890 hsa-miR-149
    SwitchGear 3'UTR luciferase reporter plasmidANK1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANK1

    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity NAS9430667
    GO:0005200structural constituent of cytoskeleton TAS8640229
    GO:0005515protein binding IPI379653
    GO:0008093cytoskeletal adaptor activity TAS11427698
    GO:0019899enzyme binding TAS11427698


    ANK1 for ontologies           About GeneDecksing


    Animal Models:
         14 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Ank1):
     behavior/neurological  cardiovascular system  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  integument  liver/biliary system  mortality/aging  nervous system 
     pigmentation  renal/urinary system  reproductive system  skeleton 

    ANK1 for phenotypes           About GeneDecksing


    (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 - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Axon guidance
    Axon guidance1.00
    L1CAM interactions0.39
    Developmental Biology0.69
    2NrCAM interactions
    NrCAM interactions1.00
    3Neurofascin interactions
    Neurofascin interactions1.00
    4CHL1 interactions
    CHL1 interactions1.00
    5Interaction between L1 and Ankyrins
    Interaction between L1 and Ankyrins1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for ANK1
        Rac1 Pathway

    5/7        Reactome Pathways for ANK1 (see all 7)
        L1CAM interactions
    Developmental Biology
    Interaction between L1 and Ankyrins
    NrCAM interactions
    CHL1 interactions



    ANK1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ANK1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/27 Interacting proteins for ANK1 (P161571, 2, 3 ENSP000002657094) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OBSCNQ5VST9-31, ENSP000004094934EBI-941819,EBI-941921 MINT-50079 MINT-50077 MINT-50078 MINT-50080 MINT-50083 I2D: score=3 STRING: ENSP00000409493
    RHAGQ020943, ENSP000003602174I2D: score=2 STRING: ENSP00000360217
    EPB42P164523, ENSP000003002154I2D: score=1 STRING: ENSP00000300215
    NFASCO948563, ENSP000003531544I2D: score=1 STRING: ENSP00000353154
    SPTA1P025493, ENSP000003571304I2D: score=1 STRING: ENSP00000357130
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006779porphyrin-containing compound biosynthetic process IEA--
    GO:0006887exocytosis NAS1833445
    GO:0006888ER to Golgi vesicle-mediated transport IDA18768923
    GO:0007010cytoskeleton organization NAS9430667
    GO:0007165signal transduction IEA--


    ANK1 for ontologies           About GeneDecksing



    (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

    ANK1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ANK1
    6 Novoseek chemical compound relationships for ANK1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylethanolamine 29.2 2 15171729 (1), 9931302 (1)
    phosphatidylserine 23.7 1 15746942 (1)
    phosphatidylcholine 23.5 5 12175923 (1), 2170369 (1)
    lipid 3.03 1 15171729 (1)
    zinc 0 3 9819391 (2), 12913000 (1)
    tyrosine 0 2 17428854 (1)

    Search CenterWatch for drugs/clinical trials and news about ANK1 

    (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 ANK1 gene (10 alternative transcripts): 
    NM_000037.3  NM_001142445.1  NM_001142446.1  NM_020475.2  NM_020476.2  NM_020477.2  NM_020478.4  NM_020480.4  
    NM_020479.2  NM_020481.2  

    Unigene Cluster for ANK1:

    Ankyrin 1, erythrocytic
    Hs.654438  [show with all ESTs]
    Unigene Representative Sequence: NM_001142446
    18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000347528(uc003xoj.3 uc003xok.3 uc003xol.3 uc003xom.3)
    ENST00000289734(uc003xoh.3 uc003xoi.3) ENST00000522231 ENST00000522543
    ENST00000314214 ENST00000520299 ENST00000265709 ENST00000348036 ENST00000524227
    ENST00000335651 ENST00000518715 ENST00000518061 ENST00000524069 ENST00000521407
    ENST00000379758 ENST00000396945 ENST00000457297(uc011lcl.2 uc003xod.3 uc003xoc.3 uc003xof.3)
    ENST00000396942

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    Inhib. RNA
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    Additional cDNA sequence: 

    AB209418.1 AK126647.1 AK223578.1 BC007930.2 BC014467.1 BC030957.1 BC117121.1 BX647936.1 
    M28880.1 X16609.1 

    15 DOTS entries:

    DT.100751174  DT.102844156  DT.91775389  DT.91775385  DT.91775421  DT.100671224  DT.102844157  DT.95141964 
    DT.100751175  DT.100745555  DT.446414  DT.91775424  DT.91849266  DT.75102807  DT.40113153 

    24/127 AceView cDNA sequences (see all 127):

    BC030957 BQ718623 AA422077 AI420193 T58012 AA464755 CA433323 AA477644 
    AI801936 CA396213 AI092367 AA326571 AI659683 BM909053 BU192234 T28060 
    BC014467 AK126647 NM_000037 AI693242 X16609 AI630380 BU656434 AK129864 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for ANK1 (see all 12)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
    SP1:                                                                                                                                            -               
    SP2:                                                                                                                                            -               
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 26a · 26b ^ 27a · 27b ^ 28 ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44a · 44b · 44c · 44d · 44e ^
    SP1:  -     -                                                                                                                 -     -     -     -     -     -   
    SP2:  -     -                                                                                                                 -     -     -     -     -     -   
    SP3:  -     -                                                                                                                 -     -     -     -     -     -   
    SP4:  -     -                                                                                               -                 -     -     -     -     -     -   
    SP5:                                                                                                                          -     -     -     -     -     -   

    ExUns: 45 ^ 46a · 46b · 46c ^ 47a · 47b ^ 48a · 48b · 48c · 48d · 48e
    SP1:              -     -                                             
    SP2:                    -     -     -                                 
    SP3:              -     -     -     -                                 
    SP4:              -     -                                             
    SP5:                                                                  


    ECgene alternative splicing isoforms for ANK1

    (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

    ANK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGGGCTTCCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    ANK1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryPrimary FollicleGranulosa CellsOvary
    OvaryPrimordial FolliclePre-Granulosa CellsOvary
    Skeletal MuscleHyoid Arch MusclesMononuclear MyocytesSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMononuclear MyocytesSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 5 LifeMap Cells 
    NameCategory
    PureStem™ progenitor T42 (Embryonic Progenitor Cell)
    PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor E69 (Embryonic Progenitor Cell)
    PureStem™ progenitor T36 (Embryonic Progenitor Cell)
    PureStem™ progenitor U31 (Embryonic Progenitor Cell)

    See ANK1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ANK1

    SOURCE GeneReport for Unigene cluster: Hs.654438

    UniProtKB/Swiss-Prot: ANK1_HUMAN, P16157
    Tissue specificity: Isoform Mu17, isoform Mu18, isoform Mu19 and isoform Mu20 are expressed in skeletal muscle. Isoform
    Br21 is expressed in brain

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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ANK1 gene from 8/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ANK11 ankyrin 1, erythrocytic 77.58(n)
    82.92(a)
      396311  XM_424401.3  XP_424401.3 
    lizard
    (Anolis carolinensis)
    Reptilia ANK16
    --
    79(a)
    1 ↔ 1
    GL343545.1(971-121593)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ064997.12   -- 77.41(n)    BJ064997.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7976621 ankyrin-1-like 67.84(n)
    71.59(a)
      797662  XM_003200863.1  XP_003200911.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ank23 cytoskeletal anchoring cytoskeletal protein
    binding
    53(a)
    (best of 3)
      66A10   --
    worm
    (Caenorhabditis elegans)
    Secernentea Y71A12B.43   -- 30(a)
    (best of 2)
      I(13910265-13921903)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G142301 hypothetical protein 41.68(n)
    30.44(a)
      831273  NM_121427.7  NP_196927.4 
    rice
    (Oryza sativa)
    Liliopsida Os02g04575001 hypothetical protein 42.13(n)
    29.89(a)
      4329284  NM_001053313.1  NP_001046778.1 


    ENSEMBL Gene Tree for ANK1 (if available)
    TreeFam Gene Tree for ANK1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ANK1 gene
    TANC22  TNKS22  ANKRD172  ANK32  ANKHD12  ANKRD522  ANKHD1-EIF4EBP32  TNKS2  
    ANKRD502  TANC12  INVS2  ANKRD282  ANK22  ANKRD442  
    18/25 SIMAP similar genes for ANK1 using alignment to 6 protein entries:     ANK1_HUMAN (see all proteins) (see all similar genes):
    hANK1    ANK3    GABPB1    DKFZp566P0524    ANK2    ANKRD44
    IkBa    ACAP3    CDKN2D    PPP1R12A    DKFZp686M09125    ANKRD54
    PSMD10    DKFZp434B2328    DKFZp761E1322    MTPN    ANKRD29    CDKN2C

    ANK1 for paralogs           About GeneDecksing



    (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

    10/4630 NCBI SNPs in ANK1 are shown (see all 4630    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1124479851,2
    --40039014(+) GGCCTC/TTGGCG 8 -- ut312Minor allele frequency- T:0.04CSA WA 119
    rs726389431,2
    C,--40039137(+) GCAGCC/TCCACC 8 -- ut312Minor allele frequency- T:0.09CSA WA 120
    rs38023141,2
    C,F,H,--40039369(+) GCTCCA/TGGGGC 8 -- ut31 ese34Minor allele frequency- T:0.01NS EA 416
    rs782033111,2
    F,--40039427(+) CGCGAG/CGGCGG 8 -- ut311Minor allele frequency- C:0.06WA 118
    rs6929411,2
    F--40039466(-) CTCCGC/GGCCAG 8 -- ut313Minor allele frequency- G:0.14NA 28
    rs1121895611,2
    --40039767(+) CACCAC/AGTTCA 8 -- ut311Minor allele frequency- A:0.50CSA 2
    rs2012959611,2
    C--40040564(-) GGAAAA/GAAAAA 8 -- ut310--------
    rs1122099331,2
    C,--40040649(+) AAAAAC/-CCCAA 8 -- ut311Minor allele frequency- -:0.50CSA 2
    rs726389441,2
    C,--40040796(+) TTGCAA/GGAGGC 8 -- ut313Minor allele frequency- G:0.05CSA WA NA 240
    rs748280081,2
    --40041162(+) CAGCCC/TGACTT 8 -- int11Minor allele frequency- T:0.01NA 120

    HapMap Linkage Disequilibrium report for ANK1 (41510739 - 41754280 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for ANK1
         3 CNVs: 10251 95395 82583
         1 Indel: 82584
    Human Gene Mutation Database (HGMD): ANK1

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    (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

    ANK1 for disorders           About GeneDecksing

    OMIM gene information: 612641   
    OMIM disorders: 182900  
    UniProtKB/Swiss-Prot: ANK1_HUMAN, P16157
  • Defects in ANK1 are a cause of spherocytosis type 1 (SPH1) [MIM:182900]; also called hereditary spherocytosis
  • type 1 (HS1). Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by
    numerous abnormally shaped erythrocytes which are generally spheroidal. Inheritance can be autosomal dominant or
    recessive

    20/24 diseases for ANK1 (see all 24):    About MalaCards
    spherocytosis    hereditary spherocytosis    contagious pustular dermatitis    spherocytosis, type 1
    hereditary elliptocytosis    elliptocytosis    ehrlichiosis    hemolytic anemia
    kallmann syndrome    sickle cell disease    cowpox    smallpox
    werner syndrome    anemia    vaccinia    dermatitis
    myopathy    breast carcinoma    colorectal cancer    ischemia

    3 diseases from the University of Copenhagen DISEASES database for ANK1:
    Hereditary elliptocytosis     Anemia     Cowpox

    6 Novoseek disease relationships for ANK1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    spherocytosis hereditary 92.4 19 16518602 (2), 9470011 (2), 16617750 (1), 17128827 (1) (see all 14)
    spherocytosis 82 4 9054656 (2), 8703812 (1), 12719424 (1)
    human granulocytic ehrlichiosis 62.2 1 10921951 (1)
    anemia hemolytic 57.9 2 9235914 (1)
    erythroleukemia 28 1 12489996 (1)
    tumors 4 2 11717987 (1), 7970728 (1)

    Human Genome Epidemiology (HuGE) Navigator: ANK1 (5 documents)

    Export disorders for ANK1 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 ANK1 gene, integrated from 9 sources (see all 159):
    (articles sorted by number of sources associating them with ANK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA sequence for human erythrocyte ankyrin. (PubMed id 1689849)1, 2, 3, 9 Lambert S.... Palek J. (1990)
    2. Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. (PubMed id 8640229)1, 2, 9 Eber S.W.... Lux S.E. (1996)
    3. Structure and organization of the human ankyrin-1 gene. Basis for complexity of pre-mRNA processing. (PubMed id 9235914)1, 2, 9 Gallagher P.G.... Forget B.G. (1997)
    4. An alternate promoter directs expression of a truncated, muscle- specific isoform of the human ankyrin 1 gene. (PubMed id 9430667)1, 2, 9 Gallagher P.G. and Forget B.G. (1998)
    5. Mapping the binding sites of human erythrocyte ankyrin for the anion exchanger and spectrin. (PubMed id 2141335)1, 2, 9 Davis L.H. and Bennett V. (1990)
    6. Analysis of cDNA for human erythrocyte ankyrin indicates a repeated structure with homology to tissue-differentiation and cell-cycle control proteins. (PubMed id 2137557)1, 2, 9 Lux S.E.... Bennett V. (1990)
    7. Asparagine and aspartate hydroxylation of the cytoske letal ankyrin family is catalyzed by factor-inhibiting hypoxia-inducible factor . (PubMed id 21177872)1, 2 Yang M....Schofield C.J. (2011)
    8. 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)
    9. Binding of an ankyrin-1 isoform to obscurin suggests a molecular link between the sarcoplasmic reticulum and myofibrils in striated muscles. (PubMed id 12527750)1, 2 Bagnato P.... Sorrentino V. (2003)
    10. The hydrophilic domain of small ankyrin-1 interacts with the two N- terminal immunoglobulin domains of titin. (PubMed id 12444090)1, 2 Kontrogianni-Konstantopoulos A. and Bloch R.J. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 286 HGNC: 492 AceView: ANK1 Ensembl:ENSG00000029534 euGenes: HUgn286
    ECgene: ANK1 H-InvDB: ANK1

    (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 ANK1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ANK1 Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/Ankyrin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ANK1 gene:
    Search GeneIP for patents involving ANK1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (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),
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    About This Section

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