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

Gene ID: 129138, updated on 26-Nov-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, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 9.1), ovary (RPKM 5.1) and 25 other tissues See more
Orthologs
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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

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. 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

  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

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