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    ANK1 ankyrin 1, erythrocytic [ Homo sapiens (human) ]

    Gene ID: 286, updated on 14-May-2013
    Official Symbol
    ANK1provided by HGNC
    Official Full Name
    ankyrin 1, erythrocyticprovided by HGNC
    Primary source
    HGNC:492
    See related
    Ensembl:ENSG00000029534; HPRD:01693; MIM:612641; Vega:OTTHUMG00000150281
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ANK; SPH1; SPH2
    Summary
    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]
    Location :
    8p11.1
    Sequence :
    Chromosome: 8; NC_000008.10 (41510744..41754280, complement)
    See ANK1 in Epigenomics, MapViewer

    Chromosome 8 - NC_000008.10Genomic Context describing neighboring genes Neighboring gene 1-acylglycerol-3-phosphate O-acyltransferase 6 Neighboring gene NK6 homeobox 3 Neighboring gene microRNA 486 Neighboring gene K(lysine) acetyltransferase 6A Neighboring gene ribosomal protein L17 pseudogene 30

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Protein Gene Interaction Pubs
    Gag, Pr55 gag Ankyrin binds to the N-terminal region (residues 132-241) of the CA domain of HIV-1 Gag. Ankyrin decreases expression of Gag in HIV-1-infected SupT1 cells PubMed

    Go to the HIV-1, Human Protein Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description
    P16157 Q9UL45 BLOC1S6    HPRD  PubMed  
    P16157 P16070 CD44    HPRD  PubMed  
    P16157 P16452 EPB42    HPRD  PubMed  
    P16157 Q14573 ITPR3    HPRD  PubMed  
    P16157 P32004 L1CAM    HPRD  PubMed  
    P16157 Q9H094 NBPF3    HPRD  PubMed  
    P16157 O94856 NFASC    HPRD  PubMed  
    P16157 Q5VST9 OBSCN    HPRD  PubMed  
    P16157 Q02094 RHAG    HPRD  PubMed  
    P16157 P02730 SLC4A1    HPRD  PubMed  
    P16157 P48751 SLC4A3    HPRD  PubMed  
    P16157 Q13813 SPTAN1    HPRD  PubMed  
    P16157 Q13009 TIAM1    HPRD  PubMed  
    P16157 Q8WZ42 TTN    HPRD  PubMed  
    BioGRID:106783 BioGRID:114030 CUL3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106783 BioGRID:128350 KCTD6    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:106783 BioGRID:110094 L1CAM    BioGRID  PubMed Co-localization 
    BioGRID:106783 BioGRID:110815 NEDD8    BioGRID  PubMed PCA 
    BioGRID:106783 BioGRID:123847 OBSCN    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:106783 BioGRID:111937 RHAG    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:106783 BioGRID:112412 SLC4A1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106783 BioGRID:112399 SLC4A3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106783 BioGRID:112586 SPTA1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106783 BioGRID:112588 SPTB    BioGRID  PubMed Biochemical Activity; Reconstituted Complex 
    BioGRID:106783 BioGRID:112589 SPTBN1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106783 BioGRID:112904 TGFBR1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106783 BioGRID:112930 TIAM1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:106783 BioGRID:113124 TTN    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:106783 BioGRID:113164 UBC    BioGRID  PubMed PCA 
    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • CHL1 interactions, organism-specific biosystem (from REACTOME)
      CHL1 interactions, organism-specific biosystemClose homolog of L1 (CHL1) is a member of the L1 family of cell adhesion molecules expressed by subpopulations of neurons and glia in the central and peripheral nervous system. CHL1 like L1 promotes ...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Interaction between L1 and Ankyrins, organism-specific biosystem (from REACTOME)
      Interaction between L1 and Ankyrins, organism-specific biosystemAnkyrins are a family of adaptor proteins that couple membrane proteins such as voltage gated Na+ channels and the Na+/K+ anion exchanger to the spectrin actin cytoskeleton. Ankyrins are encoded by t...
    • L1CAM interactions, organism-specific biosystem (from REACTOME)
      L1CAM interactions, organism-specific biosystemThe L1 family of cell adhesion molecules (L1CAMs) are a subfamily of the immunoglobulin superfamily of transmembrane receptors, comprised of four structurally related proteins: L1, Close Homolog of L...
    • Neurofascin interactions, organism-specific biosystem (from REACTOME)
      Neurofascin interactions, organism-specific biosystemNeurofascin is an L1 family immunoglobulin cell adhesion molecule involved in axon subcellular targeting and synapse formation during neural development. There are a range of different isoforms ident...
    • NrCAM interactions, organism-specific biosystem (from REACTOME)
      NrCAM interactions, organism-specific biosystemThe NgCAM-related cell adhesion molecule (NrCAM) is member of the L1 family involved in the eye development and node of Ranvier. Like all the other members of L1 family NrCAM also has the ability to...
    • Proteoglycans in cancer, organism-specific biosystem (from KEGG)
      Proteoglycans in cancer, organism-specific biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
    • Proteoglycans in cancer, conserved biosystem (from KEGG)
      Proteoglycans in cancer, conserved biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    cytoskeletal adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoskeletal adaptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
     
    enzyme binding TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    spectrin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    spectrin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    spectrin binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    structural constituent of cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    structural molecule activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    ER to Golgi vesicle-mediated transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axon guidance TAS
    Traceable Author Statement
    more info
     
    cytoskeleton organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    erythrocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    exocytosis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    maintenance of epithelial cell apical/basal polarity TAS
    Traceable Author Statement
    more info
    PubMed 
    monovalent inorganic cation transport IEA
    Inferred from Electronic Annotation
    more info
     
    porphyrin-containing compound biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    protein targeting to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    M band IEA
    Inferred from Electronic Annotation
    more info
     
    basolateral plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cortical cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    cytoskeleton NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    sarcoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    spectrin-associated cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    ankyrin-1
    Names
    ankyrin-1
    ANK-1
    ankyrin-R
    erythrocyte ankyrin

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012820.1 RefSeqGene

      Range
      5001..248537
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000037.3NP_000028.3  ankyrin-1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate segment in the 3' coding region, which includes a stop codon, compared to variant 1. The resulting isoform (3) has a distinct and one aa shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AB209418, AC113133, M28880, N63745, X16609
      Consensus CDS
      CCDS6121.1
      UniProtKB/Swiss-Prot
      P16157
      Related
      ENSP00000289734, OTTHUMP00000196861, ENST00000289734, OTTHUMT00000317298
      Conserved Domains (6) summary
      cd00204
      Location:629754
      Blast Score: 342
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      smart00218
      Location:9111015
      Blast Score: 415
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      cd08805
      Location:14011484
      Blast Score: 424
      Death_ank1; Death domain of Ankyrin-1
      pfam12796
      Location:243332
      Blast Score: 258
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:404457
      Blast Score: 154
      Ank_4; Ankyrin repeats (many copies)
      pfam13857
      Location:720774
      Blast Score: 130
      Ank_5; Ankyrin repeats (many copies)
    2. NM_001142445.1NP_001135917.1  ankyrin-1 isoform 10 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) lacks multiple 5' exons, but has an alternate 5' exon which includes an AUG start codon, compared to variant 1. The resulting isoform (10) has a much shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC113133, BC014467, N63745
      Consensus CDS
      CCDS55227.1
      UniProtKB/TrEMBL
      E5RFL7
    3. NM_001142446.1NP_001135918.1  ankyrin-1 isoform 9

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) has an alternate upstream 5' exon, which includes an AUG start codon, and has an additional exon in the middle region, but lacks a segment in the 3' coding region, compared to variant 1. The reading frame is not affected and the resulting isoform (9) is the longest, which has a distinct N-terminus and an internal additional segment as well as lacks a segment in the C-terminal region, compared to isoform 1.
      Source sequence(s)
      AB209418, AC027702, AC113133, N63745, X16609
      Consensus CDS
      CCDS47849.1
      UniProtKB/Swiss-Prot
      P16157
      Conserved Domains (6) summary
      cd00204
      Location:662787
      Blast Score: 340
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      smart00218
      Location:9521056
      Blast Score: 416
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      cd08805
      Location:14421525
      Blast Score: 425
      Death_ank1; Death domain of Ankyrin-1
      pfam12796
      Location:276365
      Blast Score: 257
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:437490
      Blast Score: 153
      Ank_4; Ankyrin repeats (many copies)
      pfam13857
      Location:753807
      Blast Score: 129
      Ank_5; Ankyrin repeats (many copies)
    4. NM_020475.2NP_065208.2  ankyrin-1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an in-frame segment in the 3' coding region, compared to variant 1. The resulting isoform (4) is therefore shorter than isoform 1.
      Source sequence(s)
      AA404587, AB209418, AC113133, M28880, N63745, X16609
      UniProtKB/Swiss-Prot
      P16157
      Related
      ENSP00000369082, ENST00000379758
      Conserved Domains (6) summary
      cd00204
      Location:629754
      Blast Score: 341
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      smart00218
      Location:9111015
      Blast Score: 415
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      cd08805
      Location:14011484
      Blast Score: 425
      Death_ank1; Death domain of Ankyrin-1
      pfam12796
      Location:243332
      Blast Score: 257
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:404457
      Blast Score: 154
      Ank_4; Ankyrin repeats (many copies)
      pfam13857
      Location:720774
      Blast Score: 129
      Ank_5; Ankyrin repeats (many copies)
    5. NM_020476.2NP_065209.2  ankyrin-1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1, also referred to as isoform 2.1.
      Source sequence(s)
      AB209418, AC113133, M28880, N63745, X16609
      Consensus CDS
      CCDS6119.1
      UniProtKB/Swiss-Prot
      P16157
      Related
      ENSP00000339620, OTTHUMP00000196860, ENST00000347528, OTTHUMT00000317297
      Conserved Domains (6) summary
      cd00204
      Location:629754
      Blast Score: 341
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      smart00218
      Location:9111015
      Blast Score: 415
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      cd08805
      Location:14011484
      Blast Score: 425
      Death_ank1; Death domain of Ankyrin-1
      pfam12796
      Location:243332
      Blast Score: 258
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:404457
      Blast Score: 154
      Ank_4; Ankyrin repeats (many copies)
      pfam13857
      Location:720774
      Blast Score: 130
      Ank_5; Ankyrin repeats (many copies)
    6. NM_020477.2NP_065210.2  ankyrin-1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame segment near to the 3' coding region, compared to variant 1. The resulting isoform (2, also referred to as isoform 2.2) is therefore shorter than isoform 1.
      Source sequence(s)
      AB209418, AC113133, AK126647, M28880, N63745, X16609
      UniProtKB/TrEMBL
      B3KX39
      UniProtKB/Swiss-Prot
      P16157
      Conserved Domains (6) summary
      cd00204
      Location:629754
      Blast Score: 339
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      smart00218
      Location:9111015
      Blast Score: 414
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      cd08805
      Location:14011484
      Blast Score: 428
      Death_ank1; Death domain of Ankyrin-1
      pfam12796
      Location:243332
      Blast Score: 257
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:404457
      Blast Score: 153
      Ank_4; Ankyrin repeats (many copies)
      pfam13857
      Location:720774
      Blast Score: 129
      Ank_5; Ankyrin repeats (many copies)
    7. NM_020478.4NP_065211.2  ankyrin-1 isoform 5 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks multiple 5' exons, but has an alternate 5' exon, which includes an AUG start codon, and it also has an alternate segment in the 3' coding region, which includes a stop codon, compared to variant 1. The resulting isoform (5, also referred to as Ank 1.5 and sAnk1) has a much shorter and distinct N-terminus and also has a distinct C-terminus, compared to isoform 1. This small isoform binds to the C-terminus of obscurin, a giant protein surrounding the contractile apparatus in striated muscle, and the binding may be essential for the proper alignment of the network sarcoplasmic reticulum.
      Source sequence(s)
      AC113133, AK223578, BC014467, N63745
      Consensus CDS
      CCDS6122.1
      UniProtKB/Swiss-Prot
      P16157
    8. NM_020480.4NP_065213.2  ankyrin-1 isoform 7 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks multiple 5' exons and an in-frame coding exon in the 3' region, but has an alternate 5' exon which includes an AUG start codon, compared to variant 1. The resulting isoform (7) has a much shorter and distinct N-terminus, and lacks a segment in the C-terminal region, compared to isoform 1.
      Source sequence(s)
      AC113133, BC014467, BC117121, N63745
      Consensus CDS
      CCDS6120.1
      UniProtKB/Swiss-Prot
      P16157
      Related
      ENSP00000403589, ENST00000457297

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000008.10 Reference GRCh37.p10 Primary Assembly

      Range
      41510744..41754280, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000140.1 Alternate HuRef

      Range
      40038471..40281660, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018919.1 Alternate CHM1_1.0

      Range
      41584721..41828155, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_020479.2: Suppressed sequence

      Description
      NM_020479.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    2. NM_020481.2: Suppressed sequence

      Description
      NM_020481.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

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