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

    Gene ID: 129138, updated on 4-Jul-2021

    Summary

    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
    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
    Expression
    Ubiquitous expression in testis (RPKM 9.1), ovary (RPKM 5.1) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ANKRD54 in Genome Data Viewer
    Location:
    22q13.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (37830853..37849341, complement)
    105.20201022 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 glycine C-acetyltransferase Neighboring gene galanin receptor 3 Neighboring gene microRNA 658 Neighboring gene microRNA 659 Neighboring gene eukaryotic translation initiation factor 3 subunit L Neighboring gene RNA, U6 small nuclear 900, pseudogene Neighboring gene MICAL like 1

    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

    Bibliography

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    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
    PubMed 
    involved_in regulation of intracellular signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of protein kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    ankyrin repeat domain-containing protein 54
    Names
    lyn-interacting ankyrin repeat 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_001349853.2NP_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:89235
      PLN03192; Voltage-dependent potassium channel; Provisional
      sd00045
      Location:77108
      ANK; ANK repeat [structural motif]
      pfam12796
      Location:53141
      Ank_2; Ankyrin repeats (3 copies)
    2. NM_001363839.1NP_001350768.1  ankyrin repeat domain-containing protein 54 isoform 3

      Status: VALIDATED

      Source sequence(s)
      BX368923, DB449700, R59897, Z97630
      Consensus CDS
      CCDS87023.1
      Related
      ENSP00000384392.1, ENST00000406423.5
      Conserved Domains (3) summary
      PLN03192
      Location:34180
      PLN03192; Voltage-dependent potassium channel; Provisional
      PHA03095
      Location:996
      PHA03095; ankyrin-like protein; Provisional
      sd00045
      Location:2253
      ANK; ANK repeat [structural motif]
    3. NM_138797.4NP_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
      Related
      ENSP00000215941.4, ENST00000215941.9
      Conserved Domains (3) summary
      cd00204
      Location:118232
      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:118206
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:142173
      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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      37830853..37849341 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (2) summary
      cd00204
      Location:118276
      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:118174
      Ank_2; Ankyrin repeats (3 copies)
    2. XM_006724137.1XP_006724200.1  ankyrin repeat domain-containing protein 54 isoform X3

      See identical proteins and their annotated locations for XP_006724200.1

      Conserved Domains (1) summary
      cl02529
      Location:89126
      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 ...
    3. XM_011529884.2XP_011528186.1  ankyrin repeat domain-containing protein 54 isoform X6

      See identical proteins and their annotated locations for XP_011528186.1

      Related
      ENSP00000385180.2, ENST00000407117.6
      Conserved Domains (3) summary
      cd00204
      Location:2899
      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:2983
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:4273
      ANK; ANK repeat [structural motif]
    4. XM_006724136.1XP_006724199.1  ankyrin repeat domain-containing protein 54 isoform X2

      Conserved Domains (1) summary
      cl02529
      Location:102139
      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 ...
    5. XM_011529882.2XP_011528184.1  ankyrin repeat domain-containing protein 54 isoform X5

      Conserved Domains (3) summary
      cd00204
      Location:41112
      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:4296
      Ank_5; Ankyrin repeats (many copies)
      sd00045
      Location:5586
      ANK; ANK repeat [structural motif]

    RNA

    1. XR_002958665.1 RNA Sequence

    2. XR_002958664.1 RNA Sequence

    3. XR_001755168.1 RNA Sequence

    4. XR_001755167.1 RNA Sequence

    5. XR_937811.2 RNA Sequence

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