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ANKRD54 Gene

protein-coding   GIFtS: 49
GCID: GC22M038226

Ankyrin Repeat Domain 54

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ankyrin Repeat Domain 541 2
LIAR2 3 5
Lyn-Interacting Ankyrin Repeat Protein2 3
Ankyrin Repeat Domain-Containing Protein 542

External Ids:    HGNC: 251851   Entrez Gene: 1291382   Ensembl: ENSG000001001247   OMIM: 6133835   UniProtKB: Q6NXT13   

Export aliases for ANKRD54 gene to outside databases

Previous GC identifers: GC22M036556 GC22M021193


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 PSMD10.

UniProtKB/Swiss-Prot: ANR54_HUMAN, Q6NXT1
Function: Plays an important role in regulating intracellular signaling events associated with erythroid terminal
differentiation (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ANKRD54 gene promoter:
         Pax-5   NF-YA   NF-YC   CBF-C   CBF-A   CBF-B   CP1A   CP1C   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidANKRD54 promoter sequence
   Search Chromatin IP Primers for ANKRD54

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ANKRD54


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.1   Ensembl cytogenetic band:  22q13.1   HGNC cytogenetic band: 22q13.1

ANKRD54 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKRD54 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M038226:  view genomic region     (about GC identifiers)

Start:
38,226,862 bp from pter      End:
38,245,334 bp from pter
Size:
18,473 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ANR54_HUMAN, Q6NXT1 (See protein sequence)
Recommended Name: Ankyrin repeat domain-containing protein 54  
Size: 300 amino acids; 32505 Da
Subunit: Interacts (via ankyrin repeat region) with LYN (via SH3-domain) in an activation-independent status of
LYN (By similarity). Forms a multiprotein complex with LYN and HCLS1 (By similarity). Interacts with TSN2, VAV1,
DBNL AND LASP1 (By similarity)
Secondary accessions: Q6ZSB1 Q9UGV1
Alternative splicing: 2 isoforms:  Q6NXT1-1   Q6NXT1-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ANKRD54: NX_Q6NXT1

Explore proteomics data for ANKRD54 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ANKRD54 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_620152.1  
    ENSEMBL proteins: 
     ENSP00000215941   ENSP00000384392   ENSP00000477088   ENSP00000405782   ENSP00000412534  
     ENSP00000385180   ENSP00000391744   ENSP00000393035   ENSP00000387507  

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    antibodies-online peptides for ANKRD54

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ANKRD: Ankyrin repeat domain containing

    2 InterPro protein domains:
     IPR002110 Ankyrin_rpt
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q6NXT1

    ProtoNet protein and cluster: Q6NXT1

    UniProtKB/Swiss-Prot: ANR54_HUMAN, Q6NXT1
    Similarity: Contains 4 ANK repeats


    Find genes that share domains with ANKRD54           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ANR54_HUMAN, Q6NXT1
    Function: Plays an important role in regulating intracellular signaling events associated with erythroid terminal
    differentiation (By similarity)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0019887protein kinase regulator activity IEA--
    GO:0032403protein complex binding IEA--
         
    Find genes that share ontologies with ANKRD54           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ANKRD54

    miRNA
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    miRTarBase miRNAs that target ANKRD54:
    hsa-mir-484 (MIRT041774)

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    Selected qRT-PCR Assays for microRNAs that regulate ANKRD54 (see all 17):
    hsa-miR-520e hsa-miR-302d hsa-miR-302e hsa-miR-4299 hsa-miR-512-3p hsa-miR-520a-3p hsa-miR-372 hsa-miR-520d-3p
    SwitchGear 3'UTR luciferase reporter plasmidANKRD54 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ANR54_HUMAN, Q6NXT1: Nucleus (By similarity). Cytoplasm (By similarity). Midbody (By similarity). Note=Shuttles
    between nucleus and cytoplasm during the cell cycle. EPO stimulation induces nuclear accumulation (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol3

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm ISS--
    GO:0030496midbody ISS--

    Find genes that share ontologies with ANKRD54           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ANKRD54
    Interactions:

        Search GeneGlobe Interaction Network for ANKRD54

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    3 Interacting proteins for ANKRD54 (Q6NXT13 ENSP000002159414) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITKQ088813I2D: score=1 
    LYNP079483I2D: score=1 
    --ENSP000003766884STRING: ENSP00000376688
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006913nucleocytoplasmic transport IEA--
    GO:0007049cell cycle ----
    GO:0045648positive regulation of erythrocyte differentiation ISS--
    GO:0045859regulation of protein kinase activity ----
    GO:1902531regulation of intracellular signal transduction ISS--

    Find genes that share ontologies with ANKRD54           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ANKRD54 (ANR54)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ANKRD54 gene: 
    NM_138797.2  

    Unigene Cluster for ANKRD54:

    Ankyrin repeat domain 54
    Hs.135259  [show with all ESTs]
    Unigene Representative Sequence: AK127583
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000215941(uc003auc.3 uc003aud.3) ENST00000498417 ENST00000406423
    ENST00000609454 ENST00000411961 ENST00000458278 ENST00000407117 ENST00000464849
    ENST00000413497 ENST00000424350 ENST00000434930 ENST00000609706
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ANKRD54 (see all 17):
    hsa-miR-520e hsa-miR-302d hsa-miR-302e hsa-miR-4299 hsa-miR-512-3p hsa-miR-520a-3p hsa-miR-372 hsa-miR-520d-3p
    SwitchGear 3'UTR luciferase reporter plasmidANKRD54 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat ANKRD54

    Additional mRNA sequence: 

    AK127583.1 BC014641.1 BC066909.1 CR456471.1 NR_036556.1 

    17 DOTS entries:

    DT.102840386  DT.120636935  DT.452401  DT.95232856  DT.101969079  DT.100822988  DT.95232860  DT.101978165 
    DT.97768010  DT.120636921  DT.120637150  DT.95232851  DT.100700124  DT.100771270  DT.100822982  DT.120636952 
    DT.100705236 

    Selected AceView cDNA sequences (see all 236):

    CA313115 AA011085 BE673551 AA670174 CR595513 F07311 BU157235 AW590390 
    BC014641 AI203323 CB853585 CR456471 BQ887564 CR626329 CR610061 CR617257 
    AW194448 BQ687081 CD678936 AI365351 BU632516 AI964080 AI860162 BU623733 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD54 (see all 9)    About this scheme

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


    ECgene alternative splicing isoforms for ANKRD54

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ANKRD54 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCTAATCCC
    ANKRD54 Expression
    About this image

    ANKRD54 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ANKRD54 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.135259
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ANKRD54 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ankrd541 , 5 ankyrin repeat domain 541, 5 86.51(n)1
    91.7(a)1
      15 (37.70 cM)5
    2236901  NM_144849.11  NP_659098.11 
     790530945 
    chicken
    (Gallus gallus)
    Aves ANKRD541 ankyrin repeat domain 54 77.5(n)
    86.92(a)
      418034  XM_416271.4  XP_416271.1 
    lizard
    (Anolis carolinensis)
    Reptilia ANKRD546
    ankyrin repeat domain 54
    73(a)
    1 ↔ 1
    GL343460.1(14720-26111)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.42162 Xenopus laevis transcribed sequence with weak similarity more 77.24(n)    CA985578.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi33d092 Transcribed sequence with weak similarity to protein more 79.81(n)    BM265794.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG108096
    --
    23(a)
    1 ↔ 1
    3L(9850688-9852989)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NAS66
    Proteasome-interacting protein involved in the ass...
    18(a)
    1 → many
    VII(953960-954646) YGR232W


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ANKRD54 gene
    PSMD102  ASB82  ANKRD422  ASB72  
    Selected SIMAP similar genes for ANKRD54 using alignment to 9 protein entries:     ANR54_HUMAN (see all proteins) (see all similar genes):
    ANK2    ANKRD65    ANKDD1B    FPGT-TNNI3K    RAI14    ANK1
    ASB2    PPP1R12B    ANKRD6    CDKN2A    ANK3    ANKRD60
    HACE1    OSBPL1A    PLA2G6    ANKRD12    ANKRD28    ANKRD7

    Find genes that share paralogs with ANKRD54           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ANKRD54
    PGOHUM00000238445


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ANKRD54 (see all 298)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs605630701,2
    C,F--38226471(+) CTAGGT/CTCTAT 2 -- int11Minor allele frequency- C:0.03WA 118
    rs1824106121,2
    C--38226494(+) GATCTG/TAGCCA 2 -- int10--------
    rs1167750771,2
    F--38226585(+) GCAGAG/ACCAGG 2 -- int11Minor allele frequency- A:0.02WA 118
    rs1874461961,2
    --38226589(+) AGCCAA/GGCGGG 2 -- int10--------
    rs1405951301,2
    --38226599(+) GACACA/GGACTG 2 -- int10--------
    rs1456574811,2
    --38226608(+) TGATCA/GCCTGG 2 -- int10--------
    rs1147835191,2
    C,F--38226836(+) TTGCTG/ACTGCA 2 -- int11Minor allele frequency- A:0.06WA 118
    rs1177733721,2
    C,F--38226922(+) TAAAAT/CTAGCC 2 -- ut31 nc-transcript-variant1Minor allele frequency- C:0.02EA 120
    rs1919916541,2
    --38227086(+) CTCCCA/GTCACC 2 -- ut31 nc-transcript-variant0--------
    rs1451874881,2
    --38227114(+) GACCCA/GGGTGA 2 -- ut31 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for ANKRD54 (38226862 - 38245334 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ANKRD54:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2666189CNV Deletion23128226
    dgv4966n71CNV Loss21882294
    nsv915035CNV Loss21882294
    dgv4965n71CNV Loss21882294
    dgv1406e1CNV Complex17122850

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613383    OMIM disorders: --


    Find genes that share disorders with ANKRD54           About GenesLikeMe

    Genetic Association Database (GAD): ANKRD54

    Export disorders for ANKRD54 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ANKRD54 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with ANKRD54)
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    1. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2, 3 Collins J.E.... Dunham I. (Genome Biol. 2004)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I.... Wright H. (Nature 1999)
    5. Protein interaction discovery using parallel analysis of translated ORFs (PLATO). (PubMed id 23503679)1 Zhu J....Elledge S.J. (Nat. Biotechnol. 2013)
    6. Regulation of nucleocytoplasmic shuttling of Bruton's tyrosine kinase (Btk) through a novel SH3-dependent interaction with ankyrin repeat domain 54 (ANKRD54). (PubMed id 22527282)1 Gustafsson M.O....Nore B.F. (Mol. Cell. Biol. 2012)
    7. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    8. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    9. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (Anal. Chem. 2009)
    10. Large-scale proteomics analysis of the human kinome. (PubMed id 19369195)2 Oppermann F.S.... Daub H. (Mol. Cell. Proteomics 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 129138 HGNC: 25185 AceView: LOC129138 Ensembl:ENSG00000100124 euGenes: HUgn129138
    ECgene: ANKRD54 H-InvDB: ANKRD54

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ANKRD54 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ANKRD54 gene:
    Search GeneIP for patents involving ANKRD54

    GeneCards and IP:
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