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ANK1 ankyrin 1 [ Homo sapiens (human) ]

Gene ID: 286, updated on 4-Jan-2025

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
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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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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)

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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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