Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ANKRD54 Gene

Aliases for ANKRD54 Gene

  • Ankyrin Repeat Domain 54 2 3 5
  • Lyn-Interacting Ankyrin Repeat Protein 2 3 4
  • LIAR 3 4

External Ids for ANKRD54 Gene

Previous GeneCards Identifiers for ANKRD54 Gene

  • GC22M036556
  • GC22M038226
  • GC22M021193
  • GC22M038388
  • GC22M038510

Summaries for ANKRD54 Gene

GeneCards Summary for ANKRD54 Gene

ANKRD54 (Ankyrin Repeat Domain 54) is a Protein Coding gene. GO annotations related to this gene include protein complex binding and protein kinase regulator activity. An important paralog of this gene is ANKRD1.

UniProtKB/Swiss-Prot for ANKRD54 Gene

  • Plays an important role in regulating intracellular signaling events associated with erythroid terminal differentiation.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKRD54 Gene

Genomics for ANKRD54 Gene

Regulatory Elements for ANKRD54 Gene

Promoters for ANKRD54 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ANKRD54 on UCSC Golden Path with GeneCards custom track

Genomic Location for ANKRD54 Gene

Chromosome:
22
Start:
37,830,854 bp from pter
End:
37,849,327 bp from pter
Size:
18,474 bases
Orientation:
Minus strand

Genomic View for ANKRD54 Gene

Genes around ANKRD54 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKRD54 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKRD54 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKRD54 Gene

Proteins for ANKRD54 Gene

  • Protein details for ANKRD54 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NXT1-ANR54_HUMAN
    Recommended name:
    Ankyrin repeat domain-containing protein 54
    Protein Accession:
    Q6NXT1
    Secondary Accessions:
    • Q6ZSB1
    • Q9UGV1

    Protein attributes for ANKRD54 Gene

    Size:
    300 amino acids
    Molecular mass:
    32505 Da
    Quaternary structure:
    • Interacts (via ankyrin repeat region) with LYN (via SH3-domain) in an activation-independent status of LYN. Forms a multiprotein complex with LYN and HCLS1. Interacts with TSN2, VAV1, DBNL AND LASP1.

    Alternative splice isoforms for ANKRD54 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANKRD54 Gene

Proteomics data for ANKRD54 Gene at MOPED

Post-translational modifications for ANKRD54 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for ANKRD54 Gene

Domains & Families for ANKRD54 Gene

Gene Families for ANKRD54 Gene

Protein Domains for ANKRD54 Gene

Graphical View of Domain Structure for InterPro Entry

Q6NXT1

UniProtKB/Swiss-Prot:

ANR54_HUMAN :
  • Contains 4 ANK repeats.
Similarity:
  • Contains 4 ANK repeats.
genes like me logo Genes that share domains with ANKRD54: view

Function for ANKRD54 Gene

Molecular function for ANKRD54 Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in regulating intracellular signaling events associated with erythroid terminal differentiation.

Gene Ontology (GO) - Molecular Function for ANKRD54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with ANKRD54: view

Phenotypes for ANKRD54 Gene

genes like me logo Genes that share phenotypes with ANKRD54: view

Animal Model Products

CRISPR Products

miRNA for ANKRD54 Gene

miRTarBase miRNAs that target ANKRD54

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ANKRD54 Gene

Localization for ANKRD54 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKRD54 Gene

Nucleus. Cytoplasm. Midbody. Note=Shuttles between nucleus and cytoplasm during the cell cycle. EPO stimulation induces nuclear accumulation (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ANKRD54 Gene COMPARTMENTS Subcellular localization image for ANKRD54 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ANKRD54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,ISS --
genes like me logo Genes that share ontologies with ANKRD54: view

Pathways & Interactions for ANKRD54 Gene

SuperPathways for ANKRD54 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKRD54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006913 nucleocytoplasmic transport IEA --
GO:0045648 positive regulation of erythrocyte differentiation IEA,ISS --
genes like me logo Genes that share ontologies with ANKRD54: view

No data available for Pathways by source and SIGNOR curated interactions for ANKRD54 Gene

Drugs & Compounds for ANKRD54 Gene

No Compound Related Data Available

Transcripts for ANKRD54 Gene

Unigene Clusters for ANKRD54 Gene

Ankyrin repeat domain 54:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD54 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b · 10c · 10d
SP1: - - - -
SP2: - - - -
SP3: - - -
SP4: -
SP5: -
SP6: -
SP7: - - - -
SP8: - - - -
SP9:

Relevant External Links for ANKRD54 Gene

GeneLoc Exon Structure for
ANKRD54
ECgene alternative splicing isoforms for
ANKRD54

Expression for ANKRD54 Gene

mRNA expression in normal human tissues for ANKRD54 Gene

Protein differential expression in normal tissues from HIPED for ANKRD54 Gene

This gene is overexpressed in Adrenal (40.4) and Bone (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ANKRD54 Gene



SOURCE GeneReport for Unigene cluster for ANKRD54 Gene Hs.135259

genes like me logo Genes that share expression patterns with ANKRD54: view

Protein tissue co-expression partners for ANKRD54 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ANKRD54 Gene

Orthologs for ANKRD54 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ANKRD54 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANKRD54 35
  • 97.23 (n)
  • 96.89 (a)
ANKRD54 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ANKRD54 36
  • 95 (a)
OneToOne
ANKRD54 35
  • 88.73 (n)
  • 94.6 (a)
dog
(Canis familiaris)
Mammalia ANKRD54 35
  • 90.49 (n)
  • 93.96 (a)
ANKRD54 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ankrd54 16
Ankrd54 35
  • 86.51 (n)
  • 91.7 (a)
Ankrd54 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 79 (a)
OneToMany
-- 36
  • 62 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia ANKRD54 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ankrd54 35
  • 86.39 (n)
  • 92.73 (a)
chicken
(Gallus gallus)
Aves ANKRD54 36
  • 80 (a)
OneToOne
ANKRD54 35
  • 77.5 (n)
  • 86.92 (a)
lizard
(Anolis carolinensis)
Reptilia ANKRD54 36
  • 73 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.4216 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ankrd54 35
  • 69.76 (n)
  • 77.43 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10527 35
zebrafish
(Danio rerio)
Actinopterygii ankrd54 36
  • 58 (a)
OneToOne
ankrd54 35
  • 69.92 (n)
  • 72.03 (a)
wufi33d09 35
fruit fly
(Drosophila melanogaster)
Insecta CG10809 36
  • 23 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NAS6 36
  • 18 (a)
OneToMany
Species with no ortholog for ANKRD54:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ANKRD54 Gene

ENSEMBL:
Gene Tree for ANKRD54 (if available)
TreeFam:
Gene Tree for ANKRD54 (if available)

Paralogs for ANKRD54 Gene

Paralogs for ANKRD54 Gene

Pseudogenes.org Pseudogenes for ANKRD54 Gene

genes like me logo Genes that share paralogs with ANKRD54: view

Variants for ANKRD54 Gene

Sequence variations from dbSNP and Humsavar for ANKRD54 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs3091367 -- 37,831,814(+) GGCAT(C/G)TGCGG nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs2413486 -- 37,841,555(+) ACACA(A/C)ACAAA intron-variant
rs2413487 -- 37,841,557(+) ACACA(A/C)AAAAA intron-variant
rs5756830 -- 37,834,818(+) cactt(C/T)gggag intron-variant
rs6000901 -- 37,835,356(+) gactc(C/T)gtctc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ANKRD54 Gene

Variant ID Type Subtype PubMed ID
dgv4965n71 CNV Loss 21882294
nsv915035 CNV Loss 21882294
dgv1406e1 CNV Complex 17122850
dgv4966n71 CNV Loss 21882294
esv2666189 CNV Deletion 23128226

Variation tolerance for ANKRD54 Gene

Residual Variation Intolerance Score: 73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.78; 16.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ANKRD54 Gene

HapMap Linkage Disequilibrium report
ANKRD54

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD54 Gene

Disorders for ANKRD54 Gene

Relevant External Links for ANKRD54

Genetic Association Database (GAD)
ANKRD54
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANKRD54

No disorders were found for ANKRD54 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ANKRD54 Gene

Publications for ANKRD54 Gene

  1. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 2 3 4 67
  2. Regulation of nucleocytoplasmic shuttling of Bruton's tyrosine kinase (Btk) through a novel SH3-dependent interaction with ankyrin repeat domain 54 (ANKRD54). (PMID: 22527282) Gustafsson M.O. … Nore B.F. (Mol. Cell. Biol. 2012) 2 3
  3. Integrative analysis of kinase networks in TRAIL-induced apoptosis provides a source of potential targets for combination therapy. (PMID: 25852190) So J. … Colwill K. (Sci Signal 2015) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. Protein interaction discovery using parallel analysis of translated ORFs (PLATO). (PMID: 23503679) Zhu J. … Elledge S.J. (Nat. Biotechnol. 2013) 3

Products for ANKRD54 Gene

Sources for ANKRD54 Gene

Back to Top

Content