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    ANKAR ankyrin and armadillo repeat containing [ Homo sapiens (human) ]

    Gene ID: 150709, updated on 3-Apr-2024

    Summary

    Official Symbol
    ANKARprovided by HGNC
    Official Full Name
    ankyrin and armadillo repeat containingprovided by HGNC
    Primary source
    HGNC:HGNC:26350
    See related
    Ensembl:ENSG00000151687 MIM:609803; AllianceGenome:HGNC:26350
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 4.3), thyroid (RPKM 1.0) and 22 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ANKAR in Genome Data Viewer
    Location:
    2q32.2
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (189674670..189763059)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (190163912..190252329)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (190539396..190611376)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16851 Neighboring gene uncharacterized LOC105373793 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16852 Neighboring gene ASNSD1 upstream open reading frame Neighboring gene asparagine synthetase domain containing 1 Neighboring gene O-sialoglycoprotein endopeptidase like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16853 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:190627447-190628193 Neighboring gene OSGEPL1 antisense RNA 1 Neighboring gene ORMDL sphingolipid biosynthesis regulator 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:190648352-190649238 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16857 Neighboring gene PMS1 homolog 1, mismatch repair system component Neighboring gene glucosamine-phosphate N-acetyltransferase 1 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-Wide Association Study Identifies Variants in PMS1 Associated with Serum Ferritin in a Chinese Population.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    ankyrin and armadillo repeat-containing protein

    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.

    mRNA and Protein(s)

    1. NM_001378068.1NP_001364997.1  ankyrin and armadillo repeat-containing protein

      Status: VALIDATED

      Source sequence(s)
      AC012488, AC013468
      Consensus CDS
      CCDS33351.2
      UniProtKB/Swiss-Prot
      Q3ZCS6, Q4G0M2, Q6ZU02, Q7Z5J8
      Related
      ENSP00000507233.1, ENST00000684021.1
      Conserved Domains (5) summary
      PLN03200
      Location:705947
      PLN03200; cellulose synthase-interactive protein; Provisional
      sd00045
      Location:570600
      ANK; ANK repeat [structural motif]
      sd00043
      Location:737769
      ARM; armadillo repeat [structural motif]
      pfam12796
      Location:574669
      Ank_2; Ankyrin repeats (3 copies)
      cl39094
      Location:526598
      Ank_2; Ankyrin repeats (3 copies)
    2. NM_144708.3NP_653309.3  ankyrin and armadillo repeat-containing protein

      See identical proteins and their annotated locations for NP_653309.3

      Status: VALIDATED

      Source sequence(s)
      AC012488, AC013468, AJ549812, AJ605761
      Consensus CDS
      CCDS33351.2
      UniProtKB/Swiss-Prot
      Q3ZCS6, Q4G0M2, Q6ZU02, Q7Z5J8
      Related
      ENSP00000427882.1, ENST00000520309.5
      Conserved Domains (5) summary
      PLN03200
      Location:705947
      PLN03200; cellulose synthase-interactive protein; Provisional
      sd00045
      Location:570600
      ANK; ANK repeat [structural motif]
      sd00043
      Location:737769
      ARM; armadillo repeat [structural motif]
      pfam12796
      Location:574669
      Ank_2; Ankyrin repeats (3 copies)
      cl39094
      Location:526598
      Ank_2; Ankyrin repeats (3 copies)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      189674670..189763059
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011510676.3XP_011508978.1  ankyrin and armadillo repeat-containing protein isoform X3

      Conserved Domains (5) summary
      cd00020
      Location:738851
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      cd00204
      Location:527658
      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 ...
      pfam12796
      Location:574669
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:570600
      ANK; ANK repeat [structural motif]
      sd00043
      Location:737769
      ARM; armadillo repeat [structural motif]
    2. XM_011510681.2XP_011508983.1  ankyrin and armadillo repeat-containing protein isoform X6

      See identical proteins and their annotated locations for XP_011508983.1

      Conserved Domains (5) summary
      cd00020
      Location:738851
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      cd00204
      Location:527658
      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 ...
      pfam12796
      Location:574669
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:570600
      ANK; ANK repeat [structural motif]
      sd00043
      Location:737769
      ARM; armadillo repeat [structural motif]
    3. XM_011510677.3XP_011508979.1  ankyrin and armadillo repeat-containing protein isoform X4

      Conserved Domains (5) summary
      cd00020
      Location:738851
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      cd00204
      Location:527658
      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 ...
      pfam12796
      Location:574669
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:570600
      ANK; ANK repeat [structural motif]
      sd00043
      Location:737769
      ARM; armadillo repeat [structural motif]
    4. XM_011510682.3XP_011508984.1  ankyrin and armadillo repeat-containing protein isoform X6

      See identical proteins and their annotated locations for XP_011508984.1

      Conserved Domains (5) summary
      cd00020
      Location:738851
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      cd00204
      Location:527658
      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 ...
      pfam12796
      Location:574669
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:570600
      ANK; ANK repeat [structural motif]
      sd00043
      Location:737769
      ARM; armadillo repeat [structural motif]
    5. XM_047443451.1XP_047299407.1  ankyrin and armadillo repeat-containing protein isoform X10

    6. XM_017003413.2XP_016858902.1  ankyrin and armadillo repeat-containing protein isoform X6

      Conserved Domains (5) summary
      cd00020
      Location:738851
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      cd00204
      Location:527658
      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 ...
      pfam12796
      Location:574669
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:570600
      ANK; ANK repeat [structural motif]
      sd00043
      Location:737769
      ARM; armadillo repeat [structural motif]
    7. XM_011510673.3XP_011508975.1  ankyrin and armadillo repeat-containing protein isoform X1

      Conserved Domains (5) summary
      cd00020
      Location:738851
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      cd00204
      Location:527658
      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 ...
      pfam12796
      Location:574669
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:570600
      ANK; ANK repeat [structural motif]
      sd00043
      Location:737769
      ARM; armadillo repeat [structural motif]
    8. XM_011510680.2XP_011508982.1  ankyrin and armadillo repeat-containing protein isoform X6

      See identical proteins and their annotated locations for XP_011508982.1

      Conserved Domains (5) summary
      cd00020
      Location:738851
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      cd00204
      Location:527658
      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 ...
      pfam12796
      Location:574669
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:570600
      ANK; ANK repeat [structural motif]
      sd00043
      Location:737769
      ARM; armadillo repeat [structural motif]
    9. XM_011510686.3XP_011508988.1  ankyrin and armadillo repeat-containing protein isoform X8

      Conserved Domains (5) summary
      cd00020
      Location:738851
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      cd00204
      Location:527658
      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 ...
      pfam12796
      Location:574669
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:570600
      ANK; ANK repeat [structural motif]
      sd00043
      Location:737769
      ARM; armadillo repeat [structural motif]
    10. XM_011510679.3XP_011508981.1  ankyrin and armadillo repeat-containing protein isoform X5

      Conserved Domains (5) summary
      cd00020
      Location:738851
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      cd00204
      Location:527658
      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 ...
      pfam12796
      Location:574669
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:570600
      ANK; ANK repeat [structural motif]
      sd00043
      Location:737769
      ARM; armadillo repeat [structural motif]
    11. XM_011510675.3XP_011508977.1  ankyrin and armadillo repeat-containing protein isoform X2

      Conserved Domains (5) summary
      cd00020
      Location:707816
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      cd00204
      Location:527658
      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 ...
      pfam12796
      Location:574669
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:570600
      ANK; ANK repeat [structural motif]
      sd00043
      Location:709734
      ARM; armadillo repeat [structural motif]
    12. XM_011510685.3XP_011508987.1  ankyrin and armadillo repeat-containing protein isoform X7

      Conserved Domains (5) summary
      cd00020
      Location:586699
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      cd00204
      Location:375506
      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 ...
      pfam12796
      Location:422517
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:418448
      ANK; ANK repeat [structural motif]
      sd00043
      Location:585617
      ARM; armadillo repeat [structural motif]
    13. XM_011510688.2XP_011508990.1  ankyrin and armadillo repeat-containing protein isoform X9

      Conserved Domains (5) summary
      cd00020
      Location:738851
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      cd00204
      Location:527658
      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 ...
      pfam12796
      Location:574669
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:570600
      ANK; ANK repeat [structural motif]
      sd00043
      Location:737769
      ARM; armadillo repeat [structural motif]
    14. XM_047443454.1XP_047299410.1  ankyrin and armadillo repeat-containing protein isoform X13

    15. XM_047443452.1XP_047299408.1  ankyrin and armadillo repeat-containing protein isoform X11

    16. XM_047443453.1XP_047299409.1  ankyrin and armadillo repeat-containing protein isoform X12

      Related
      ENSP00000399928.2, ENST00000433782.6
    17. XM_024452719.2XP_024308487.1  ankyrin and armadillo repeat-containing protein isoform X17

      Conserved Domains (5) summary
      cd00204
      Location:527658
      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 ...
      pfam00514
      Location:731771
      Arm; Armadillo/beta-catenin-like repeat
      sd00045
      Location:570600
      ANK; ANK repeat [structural motif]
      sd00043
      Location:737769
      ARM; armadillo repeat [structural motif]
      cl25709
      Location:686823
      Arm_3; Atypical Arm repeat
    18. XM_017003417.2XP_016858906.1  ankyrin and armadillo repeat-containing protein isoform X16

      Conserved Domains (5) summary
      cd00020
      Location:738851
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      cd00204
      Location:527658
      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 ...
      pfam12796
      Location:574669
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:570600
      ANK; ANK repeat [structural motif]
      sd00043
      Location:737769
      ARM; armadillo repeat [structural motif]
    19. XM_047443456.1XP_047299412.1  ankyrin and armadillo repeat-containing protein isoform X15

    20. XM_047443455.1XP_047299411.1  ankyrin and armadillo repeat-containing protein isoform X14

    RNA

    1. XR_922865.3 RNA Sequence

    2. XR_001738640.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      190163912..190252329
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340668.1XP_054196643.1  ankyrin and armadillo repeat-containing protein isoform X4

    2. XM_054340667.1XP_054196642.1  ankyrin and armadillo repeat-containing protein isoform X3

    3. XM_054340670.1XP_054196645.1  ankyrin and armadillo repeat-containing protein isoform X6

    4. XM_054340677.1XP_054196652.1  ankyrin and armadillo repeat-containing protein isoform X10

    5. XM_054340673.1XP_054196648.1  ankyrin and armadillo repeat-containing protein isoform X6

    6. XM_054340671.1XP_054196646.1  ankyrin and armadillo repeat-containing protein isoform X6

    7. XM_054340665.1XP_054196640.1  ankyrin and armadillo repeat-containing protein isoform X1

    8. XM_054340672.1XP_054196647.1  ankyrin and armadillo repeat-containing protein isoform X6

    9. XM_054340675.1XP_054196650.1  ankyrin and armadillo repeat-containing protein isoform X8

    10. XM_054340669.1XP_054196644.1  ankyrin and armadillo repeat-containing protein isoform X5

    11. XM_054340666.1XP_054196641.1  ankyrin and armadillo repeat-containing protein isoform X2

    12. XM_054340674.1XP_054196649.1  ankyrin and armadillo repeat-containing protein isoform X7

    13. XM_054340676.1XP_054196651.1  ankyrin and armadillo repeat-containing protein isoform X9

    14. XM_054340680.1XP_054196655.1  ankyrin and armadillo repeat-containing protein isoform X13

    15. XM_054340678.1XP_054196653.1  ankyrin and armadillo repeat-containing protein isoform X11

    16. XM_054340679.1XP_054196654.1  ankyrin and armadillo repeat-containing protein isoform X12

    17. XM_054340684.1XP_054196659.1  ankyrin and armadillo repeat-containing protein isoform X17

    18. XM_054340683.1XP_054196658.1  ankyrin and armadillo repeat-containing protein isoform X16

    19. XM_054340682.1XP_054196657.1  ankyrin and armadillo repeat-containing protein isoform X15

    20. XM_054340681.1XP_054196656.1  ankyrin and armadillo repeat-containing protein isoform X14

    RNA

    1. XR_008486290.1 RNA Sequence

    2. XR_008486289.1 RNA Sequence