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    ANKRD54 ankyrin repeat domain 54 [ Homo sapiens (human) ]

    Gene ID: 129138, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ANKRD54provided by HGNC
    Official Full Name
    ankyrin repeat domain 54provided by HGNC
    Primary source
    HGNC:HGNC:25185
    See related
    Ensembl:ENSG00000100124 MIM:613383; AllianceGenome:HGNC:25185
    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
    Also known as
    LIAR
    Summary
    Predicted to enable protein kinase regulator activity. Predicted to be involved in positive regulation of erythrocyte differentiation and regulation of intracellular signal transduction. Predicted to act upstream of or within nucleocytoplasmic transport and regulation of protein kinase activity. Predicted to be located in midbody. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 9.1), ovary (RPKM 5.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKRD54 in Genome Data Viewer
    Location:
    22q13.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (37830855..37849341, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (38292487..38310946, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (38226862..38245348, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13700 Neighboring gene glycine C-acetyltransferase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13701 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38215099-38215650 Neighboring gene galanin receptor 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13702 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38244545-38245067 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38245068-38245590 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38245591-38246112 Neighboring gene microRNA 658 Neighboring gene Sharpr-MPRA regulatory region 5684 Neighboring gene microRNA 659 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38252750-38253250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38253251-38253751 Neighboring gene eukaryotic translation initiation factor 3 subunit L Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38258557-38259056 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:38276085-38276244 Neighboring gene RNA, U6 small nuclear 900, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. ANKRD54 preferentially selects Bruton's Tyrosine Kinase (BTK) from a Human Src-Homology 3 (SH3) domain library. Gustafsson MO, et al. PLoS One, 2017. PMID 28369144, Free PMC Article
    2. Regulation of nucleocytoplasmic shuttling of Bruton's tyrosine kinase (Btk) through a novel SH3-dependent interaction with ankyrin repeat domain 54 (ANKRD54). Gustafsson MO, et al. Mol Cell Biol, 2012 Jul. PMID 22527282, Free PMC Article
    3. Protein interaction discovery using parallel analysis of translated ORFs (PLATO). Zhu J, et al. Nat Biotechnol, 2013 Apr. PMID 23503679, Free PMC Article
    4. Cellular redox sensor HSCARG negatively regulates the translesion synthesis pathway and exacerbates mammary tumorigenesis. Zang W, et al. Proc Natl Acad Sci U S A, 2019 Dec 17. PMID 31796584, Free PMC Article
    5. A conserved acetylation switch enables pharmacological control of tubby-like protein stability. Kerek EM, et al. J Biol Chem, 2021 Jan-Jun. PMID 33187986, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. the results show that the interaction between BTK and ANKRD54 is highly selective, since it was also identified in a screen using human SH3-domainome. A novel finding is that BTK not only binds to ANKRD54, but stands out as the preferred interactor, being highly dominant over all other human SH3-domains.
      Title: ANKRD54 preferentially selects Bruton's Tyrosine Kinase (BTK) from a Human Src-Homology 3 (SH3) domain library.
    2. Liar is the first protein identified that specifically influences the nucleocytoplasmic shuttling of Btk and Txk and belongs to a rare group of known proteins carrying out this activity in a Crm1-dependent manner.
      Title: Regulation of nucleocytoplasmic shuttling of Bruton's tyrosine kinase (Btk) through a novel SH3-dependent interaction with ankyrin repeat domain 54 (ANKRD54).
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in nucleocytoplasmic transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of erythrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of intracellular signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in midbody ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein 54
    Names
    lyn-interacting ankyrin repeat 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_001349853.2 → NP_001336782.1  ankyrin repeat domain-containing protein 54 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. Then encoded isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      BC014641, Z97630
      Conserved Domains (3) summary
      PLN03192
      Location:89 → 235
      PLN03192; Voltage-dependent potassium channel; Provisional
      sd00045
      Location:77 → 108
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:53 → 141
      Ank_2; Ankyrin repeats (3 copies)

    2. NM_001363839.1 → NP_001350768.1  ankyrin repeat domain-containing protein 54 isoform 3

      Status: VALIDATED

      Source sequence(s)
      BX368923, DB449700, R59897, Z97630
      Consensus CDS
      CCDS87023.1
      UniProtKB/TrEMBL
      B5MCX7
      Related
      ENSP00000384392.1, ENST00000406423.5
      Conserved Domains (3) summary
      PLN03192
      Location:34 → 180
      PLN03192; Voltage-dependent potassium channel; Provisional
      PHA03095
      Location:9 → 96
      PHA03095; ankyrin-like protein; Provisional
      sd00045
      Location:22 → 53
      ANK; ANK repeat [structural motif]

    3. NM_138797.4 → NP_620152.1  ankyrin repeat domain-containing protein 54 isoform 1

      See identical proteins and their annotated locations for NP_620152.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer isoform (1).
      Source sequence(s)
      BC014641, BC066909, HY007929
      Consensus CDS
      CCDS13959.1
      UniProtKB/Swiss-Prot
      Q6NXT1, Q6ZSB1, Q9UGV1
      UniProtKB/TrEMBL
      D3YTC9
      Related
      ENSP00000215941.4, ENST00000215941.9
      Conserved Domains (3) summary
      cd00204
      Location:118 → 232
      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:118 → 206
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:142 → 173
      ANK; ANK repeat [structural motif]

    RNA

    1. NR_036556.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' splice junction at a coding exon compared to variant 1, that causes a frameshift. An upstream overlapping ORF with a strong Kozak consensus sequence makes it unlikely that this variant is translated.
      Source sequence(s)
      BC014641, BC066909, HY007929

    2. NR_146279.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' splice junction at a coding exon compared to variant 1, that causes a frameshift. An upstream overlapping ORF with a strong Kozak consensus sequence makes it unlikely that this variant is translated.
      Source sequence(s)
      BC014641, BC066909, CX870766, HY007929

    3. NR_146280.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses several alternate 5' splice junction at coding exons compared to variant 1, that cause a frameshift. An upstream overlapping ORF with a strong Kozak consensus sequence makes it unlikely that this variant is translated.
      Source sequence(s)
      BC014641, BC066909, HY007929

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      37830855..37849341 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441138.1 → XP_047297094.1  ankyrin repeat domain-containing protein 54 isoform X2

    2. XM_011529877.3 → XP_011528179.1  ankyrin repeat domain-containing protein 54 isoform X1

      Conserved Domains (2) summary
      cd00204
      Location:118 → 276
      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:118 → 174
      Ank_2; Ankyrin repeats (3 copies)

    3. XM_047441141.1 → XP_047297097.1  ankyrin repeat domain-containing protein 54 isoform X6

    4. XM_011529882.3 → XP_011528184.1  ankyrin repeat domain-containing protein 54 isoform X7

      UniProtKB/TrEMBL
      F8WB76
      Related
      ENSP00000385180.2, ENST00000407117.6
      Conserved Domains (3) summary
      cd00204
      Location:41 → 112
      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 ...
      pfam13857
      Location:42 → 96
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:55 → 86
      ANK; ANK repeat [structural motif]

    5. XM_006724136.2 → XP_006724199.1  ankyrin repeat domain-containing protein 54 isoform X4

      Conserved Domains (1) summary
      cl02529
      Location:102 → 139
      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 ...

    6. XM_047441140.1 → XP_047297096.1  ankyrin repeat domain-containing protein 54 isoform X5

    7. XM_047441139.1 → XP_047297095.1  ankyrin repeat domain-containing protein 54 isoform X3

      Related
      ENSP00000387507.1, ENST00000434930.1

    RNA

    1. XR_007067958.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      38292487..38310946 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325100.1 → XP_054181075.1  ankyrin repeat domain-containing protein 54 isoform X2

    2. XM_054325099.1 → XP_054181074.1  ankyrin repeat domain-containing protein 54 isoform X1

    3. XM_054325104.1 → XP_054181079.1  ankyrin repeat domain-containing protein 54 isoform X6

    4. XM_054325105.1 → XP_054181080.1  ankyrin repeat domain-containing protein 54 isoform X7

      UniProtKB/TrEMBL
      F8WB76

    5. XM_054325102.1 → XP_054181077.1  ankyrin repeat domain-containing protein 54 isoform X4

    6. XM_054325103.1 → XP_054181078.1  ankyrin repeat domain-containing protein 54 isoform X5

    7. XM_054325101.1 → XP_054181076.1  ankyrin repeat domain-containing protein 54 isoform X3

    RNA

    1. XR_008485367.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NXT1.2 GenPept UniProtKB/Swiss-Prot:Q6NXT1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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