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

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

Summary

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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
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

Bibliography

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Related articles in PubMed

  1. Characterization of a novel human gene containing ANK repeats and ARM domains. Occhi G, et al. Biochem Biophys Res Commun, 2004 May 21. PMID 15110750
  2. Genome-wide association study identifies variants in PMS1 associated with serum ferritin in a Chinese population. Liao M, et al. PLoS One, 2014. PMID 25162662, Free PMC Article
  3. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Sang L, et al. Cell, 2011 May 13. PMID 21565611, Free PMC Article
  4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661, Free PMC Article
  5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ25415

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
ankyrin and armadillo repeat-containing protein

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.

mRNA and Protein(s)

  1. NM_001378068.1 → NP_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:705 → 947
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00045
    Location:570 → 600
    ANK; ANK repeat [structural motif]
    sd00043
    Location:737 → 769
    ARM; armadillo repeat [structural motif]
    pfam12796
    Location:574 → 669
    Ank_2; Ankyrin repeats (3 copies)
    cl39094
    Location:526 → 598
    Ank_2; Ankyrin repeats (3 copies)

  2. NM_144708.3 → NP_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:705 → 947
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00045
    Location:570 → 600
    ANK; ANK repeat [structural motif]
    sd00043
    Location:737 → 769
    ARM; armadillo repeat [structural motif]
    pfam12796
    Location:574 → 669
    Ank_2; Ankyrin repeats (3 copies)
    cl39094
    Location:526 → 598
    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_011510676.3 → XP_011508978.1  ankyrin and armadillo repeat-containing protein isoform X3

    Conserved Domains (5) summary
    cd00020
    Location:738 → 851
    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:527 → 658
    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:574 → 669
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:570 → 600
    ANK; ANK repeat [structural motif]
    sd00043
    Location:737 → 769
    ARM; armadillo repeat [structural motif]

  2. XM_011510681.2 → XP_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:738 → 851
    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:527 → 658
    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:574 → 669
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:570 → 600
    ANK; ANK repeat [structural motif]
    sd00043
    Location:737 → 769
    ARM; armadillo repeat [structural motif]

  3. XM_011510677.3 → XP_011508979.1  ankyrin and armadillo repeat-containing protein isoform X4

    Conserved Domains (5) summary
    cd00020
    Location:738 → 851
    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:527 → 658
    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:574 → 669
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:570 → 600
    ANK; ANK repeat [structural motif]
    sd00043
    Location:737 → 769
    ARM; armadillo repeat [structural motif]

  4. XM_011510682.3 → XP_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:738 → 851
    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:527 → 658
    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:574 → 669
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:570 → 600
    ANK; ANK repeat [structural motif]
    sd00043
    Location:737 → 769
    ARM; armadillo repeat [structural motif]

  5. XM_047443451.1 → XP_047299407.1  ankyrin and armadillo repeat-containing protein isoform X10

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

    Conserved Domains (5) summary
    cd00020
    Location:738 → 851
    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:527 → 658
    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:574 → 669
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:570 → 600
    ANK; ANK repeat [structural motif]
    sd00043
    Location:737 → 769
    ARM; armadillo repeat [structural motif]

  7. XM_011510673.3 → XP_011508975.1  ankyrin and armadillo repeat-containing protein isoform X1

    Conserved Domains (5) summary
    cd00020
    Location:738 → 851
    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:527 → 658
    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:574 → 669
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:570 → 600
    ANK; ANK repeat [structural motif]
    sd00043
    Location:737 → 769
    ARM; armadillo repeat [structural motif]

  8. XM_011510680.2 → XP_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:738 → 851
    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:527 → 658
    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:574 → 669
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:570 → 600
    ANK; ANK repeat [structural motif]
    sd00043
    Location:737 → 769
    ARM; armadillo repeat [structural motif]

  9. XM_011510686.3 → XP_011508988.1  ankyrin and armadillo repeat-containing protein isoform X8

    Conserved Domains (5) summary
    cd00020
    Location:738 → 851
    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:527 → 658
    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:574 → 669
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:570 → 600
    ANK; ANK repeat [structural motif]
    sd00043
    Location:737 → 769
    ARM; armadillo repeat [structural motif]

  10. XM_011510679.3 → XP_011508981.1  ankyrin and armadillo repeat-containing protein isoform X5

    Conserved Domains (5) summary
    cd00020
    Location:738 → 851
    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:527 → 658
    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:574 → 669
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:570 → 600
    ANK; ANK repeat [structural motif]
    sd00043
    Location:737 → 769
    ARM; armadillo repeat [structural motif]

  11. XM_011510675.3 → XP_011508977.1  ankyrin and armadillo repeat-containing protein isoform X2

    Conserved Domains (5) summary
    cd00020
    Location:707 → 816
    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:527 → 658
    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:574 → 669
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:570 → 600
    ANK; ANK repeat [structural motif]
    sd00043
    Location:709 → 734
    ARM; armadillo repeat [structural motif]

  12. XM_011510685.3 → XP_011508987.1  ankyrin and armadillo repeat-containing protein isoform X7

    Conserved Domains (5) summary
    cd00020
    Location:586 → 699
    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:375 → 506
    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:422 → 517
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:418 → 448
    ANK; ANK repeat [structural motif]
    sd00043
    Location:585 → 617
    ARM; armadillo repeat [structural motif]

  13. XM_011510688.2 → XP_011508990.1  ankyrin and armadillo repeat-containing protein isoform X9

    Conserved Domains (5) summary
    cd00020
    Location:738 → 851
    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:527 → 658
    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:574 → 669
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:570 → 600
    ANK; ANK repeat [structural motif]
    sd00043
    Location:737 → 769
    ARM; armadillo repeat [structural motif]

  14. XM_047443454.1 → XP_047299410.1  ankyrin and armadillo repeat-containing protein isoform X13

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

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

    Related
    ENSP00000399928.2, ENST00000433782.6

  17. XM_024452719.2 → XP_024308487.1  ankyrin and armadillo repeat-containing protein isoform X17

    Conserved Domains (5) summary
    cd00204
    Location:527 → 658
    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:731 → 771
    Arm; Armadillo/beta-catenin-like repeat
    sd00045
    Location:570 → 600
    ANK; ANK repeat [structural motif]
    sd00043
    Location:737 → 769
    ARM; armadillo repeat [structural motif]
    cl25709
    Location:686 → 823
    Arm_3; Atypical Arm repeat

  18. XM_017003417.2 → XP_016858906.1  ankyrin and armadillo repeat-containing protein isoform X16

    Conserved Domains (5) summary
    cd00020
    Location:738 → 851
    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:527 → 658
    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:574 → 669
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:570 → 600
    ANK; ANK repeat [structural motif]
    sd00043
    Location:737 → 769
    ARM; armadillo repeat [structural motif]

  19. XM_047443456.1 → XP_047299412.1  ankyrin and armadillo repeat-containing protein isoform X15

  20. XM_047443455.1 → XP_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_054340668.1 → XP_054196643.1  ankyrin and armadillo repeat-containing protein isoform X4

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

RNA

  1. XR_008486290.1 RNA Sequence

  2. XR_008486289.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z5J8.3 GenPept UniProtKB/Swiss-Prot:Q7Z5J8

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