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

Gene ID: 129138, updated on 13-Mar-2020

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

Genomic context

See ANKRD54 in Genome Data Viewer
Location:
22q13.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (37830853..37849318, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (38226862..38240353, 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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
nucleocytoplasmic transport IEA
Inferred from Electronic Annotation
more info
 
positive regulation of erythrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of intracellular signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of intracellular signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of protein kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
midbody ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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_001349853.1NP_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 (2) summary
    cd00204
    Location:53167
    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 ...
    sd00045
    Location:77108
    ANK; ANK repeat [structural motif]
  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 (2) summary
    cd00204
    Location:9112
    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 ...
    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.

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..37849318 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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