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    ANK1 ankyrin 1 [ Homo sapiens (human) ]

    Gene ID: 286, updated on 2-Nov-2024

    Summary

    Official Symbol
    ANK1provided by HGNC
    Official Full Name
    ankyrin 1provided by HGNC
    Primary source
    HGNC:HGNC:492
    See related
    Ensembl:ENSG00000029534 MIM:612641; AllianceGenome:HGNC:492
    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; ankyrin-1
    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]
    Expression
    Biased expression in bone marrow (RPKM 23.4) and heart (RPKM 5.1) See more
    Orthologs
    NEW
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    Genomic context

    See ANK1 in Genome Data Viewer
    Location:
    8p11.21
    Exon count:
    46
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (41653225..41896741, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (41926848..42170259, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (41510744..41754259, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene GPAT4 and GINS4 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19144 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27288 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27289 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:41451733-41452234 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:41454165-41454665 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:41466108-41467307 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27290 Neighboring gene glycerol-3-phosphate acyltransferase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27291 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19146 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:41510853-41511646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:41513473-41514006 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:41541049-41542248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:41543347-41543848 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:41543849-41544348 Neighboring gene microRNA 486-1 Neighboring gene microRNA 486-2 Neighboring gene NK6 homeobox 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27292 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27293 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:41570734-41571933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27294 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:41574438-41575290 Neighboring gene Sharpr-MPRA regulatory region 1462 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:41591757-41592299 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:41592277-41593476 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:41593686-41594662 Neighboring gene Sharpr-MPRA regulatory region 338 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:41649575-41650774 Neighboring gene uncharacterized LOC105379392 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:41656213-41657412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:41666802-41667754 Neighboring gene Sharpr-MPRA regulatory region 6451 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:41675890-41677089 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:41685500-41686057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:41691339-41692069 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:41692070-41692799 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:41699113-41699614 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:41699615-41700114 Neighboring gene RNA, 7SL, cytoplasmic 149, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr8:41734031-41734243 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:41759247-41759433 Neighboring gene Sharpr-MPRA regulatory region 1046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27296 Neighboring gene lysine acetyltransferase 6A Neighboring gene small nucleolar RNA SNORD112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19150 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:41909597-41910118 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:41910119-41910639 Neighboring gene Sharpr-MPRA regulatory region 9305 Neighboring gene KAT6A antisense RNA 1 Neighboring gene ribosomal protein L17 pseudogene 30

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Hereditary spherocytosis type 1
    MedGen: C2674218 OMIM: 182900 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A single-nucleotide polymorphism in ANK1 is associated with susceptibility to type 2 diabetes in Japanese populations.
    EBI GWAS Catalog
    Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.
    EBI GWAS Catalog
    Genome-wide association study of lung function decline in adults with and without asthma.
    EBI GWAS Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    EBI GWAS Catalog
    Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) 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 Interaction Database

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase binding PubMed 
    enables cytoskeletal anchor activity  
    enables cytoskeletal anchor activity PubMed 
    enables cytoskeletal anchor activity PubMed 
    enables enzyme binding PubMed 
    enables enzyme binding PubMed 
    enables protein binding PubMed 
    enables protein phosphatase binding PubMed 
    enables spectrin binding  
    enables spectrin binding PubMed 
    enables spectrin binding PubMed 
    enables spectrin binding PubMed 
    enables structural constituent of cytoskeleton PubMed 
    enables structural molecule activity PubMed 
    enables transmembrane transporter binding  
    Component Evidence Code Pubs
    located_in M band  
    located_in Z disc  
    part_of ankyrin-1 complex PubMed 
    located_in axolemma  
    located_in basolateral plasma membrane PubMed 
    located_in cytoplasmic side of plasma membrane PubMed 
    located_in cytoskeleton PubMed 
    located_in cytosol  
    is_active_in neuron projection  
    is_active_in plasma membrane  
    located_in plasma membrane PubMed 
    located_in plasma membrane PubMed 
    located_in postsynaptic membrane  
    located_in sarcolemma  
    located_in sarcoplasmic reticulum  
    located_in spectrin-associated cytoskeleton PubMed 

    General protein information

    Preferred Names
    ankyrin-1
    Names
    ANK-1
    ankyrin 1, erythrocytic
    ankyrin-R
    erythrocyte ankyrin

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_012820.2 RefSeqGene

      Range
      104141..248538
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000037.4NP_000028.3  ankyrin-1 isoform 3

      See identical proteins and their annotated locations for NP_000028.3

      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
      ENSP00000289734.8, ENST00000289734.13
      Conserved Domains (10) summary
      smart00218
      Location:9111015
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      smart00248
      Location:601630
      ANK; ankyrin repeats
      COG0666
      Location:341554
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      cd00204
      Location:365490
      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 ...
      cd08805
      Location:14011484
      Death_ank1; Death domain of Ankyrin-1
      pfam00023
      Location:337367
      Ank; Ankyrin repeat
      pfam12796
      Location:639730
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:1465
      Ank_4; Ankyrin repeats (many copies)
      pfam13857
      Location:720774
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:403434
      ANK; ANK repeat [structural motif]
    2. NM_001142445.2NP_001135917.1  ankyrin-1 isoform 10

      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/Swiss-Prot
      P16157
      Related
      ENSP00000430368.1, ENST00000522543.6
    3. NM_001142446.2NP_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
      Related
      ENSP00000265709.8, ENST00000265709.14
      Conserved Domains (10) summary
      smart00218
      Location:9521056
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      smart00248
      Location:634663
      ANK; ankyrin repeats
      COG0666
      Location:374587
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      cd00204
      Location:398523
      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 ...
      cd08805
      Location:14421525
      Death_ank1; Death domain of Ankyrin-1
      pfam00023
      Location:370400
      Ank; Ankyrin repeat
      pfam12796
      Location:672763
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:4798
      Ank_4; Ankyrin repeats (many copies)
      pfam13857
      Location:753807
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:436467
      ANK; ANK repeat [structural motif]
    4. NM_020475.3NP_065208.2  ankyrin-1 isoform 4

      See identical proteins and their annotated locations for NP_065208.2

      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
      Conserved Domains (10) summary
      smart00218
      Location:9111015
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      smart00248
      Location:601630
      ANK; ankyrin repeats
      COG0666
      Location:341554
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      cd00204
      Location:365490
      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 ...
      cd08805
      Location:14011484
      Death_ank1; Death domain of Ankyrin-1
      pfam00023
      Location:337367
      Ank; Ankyrin repeat
      pfam12796
      Location:639730
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:1465
      Ank_4; Ankyrin repeats (many copies)
      pfam13857
      Location:720774
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:403434
      ANK; ANK repeat [structural motif]
    5. NM_020476.3NP_065209.2  ankyrin-1 isoform 1

      See identical proteins and their annotated locations for NP_065209.2

      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
      A0PJN8, A6NJ23, E5RFL7, O43400, P16157, Q13768, Q53ER1, Q59FP2, Q8N604, Q99407
      Related
      ENSP00000339620.4, ENST00000347528.8
      Conserved Domains (10) summary
      smart00218
      Location:9111015
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      smart00248
      Location:601630
      ANK; ankyrin repeats
      COG0666
      Location:341554
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      cd00204
      Location:365490
      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 ...
      cd08805
      Location:14011484
      Death_ank1; Death domain of Ankyrin-1
      pfam00023
      Location:337367
      Ank; Ankyrin repeat
      pfam12796
      Location:639730
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:1465
      Ank_4; Ankyrin repeats (many copies)
      pfam13857
      Location:720774
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:403434
      ANK; ANK repeat [structural motif]
    6. NM_020477.3NP_065210.2  ankyrin-1 isoform 2

      See identical proteins and their annotated locations for NP_065210.2

      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/Swiss-Prot
      P16157
      UniProtKB/TrEMBL
      B3KX39
      Conserved Domains (10) summary
      smart00218
      Location:9111015
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      smart00248
      Location:601630
      ANK; ankyrin repeats
      COG0666
      Location:341554
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      cd00204
      Location:365490
      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 ...
      cd08805
      Location:14011484
      Death_ank1; Death domain of Ankyrin-1
      pfam00023
      Location:337367
      Ank; Ankyrin repeat
      pfam12796
      Location:639730
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:1465
      Ank_4; Ankyrin repeats (many copies)
      pfam13857
      Location:720774
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:403434
      ANK; ANK repeat [structural motif]
    7. NM_020478.5NP_065211.2  ankyrin-1 isoform 5

      See identical proteins and their annotated locations for NP_065211.2

      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
      Related
      ENSP00000319123.8, ENST00000314214.12
    8. NM_020480.5NP_065213.2  ankyrin-1 isoform 7

      See identical proteins and their annotated locations for NP_065213.2

      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/TrEMBL
      C9JN86
      Related
      ENSP00000297744.5, ENST00000348036.8

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      41653225..41896741 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      41926848..42170259 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

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