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ANKRD34A Gene

protein-coding   GIFtS: 37
GCID: GC01P145470

Ankyrin Repeat Domain 34A

(Previous name: ankyrin repeat domain 34)
(Previous symbol: ANKRD34)
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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 34A1 2
ANKRD341 2 3
Ankyrin Repeat Domain 341 2
Ankyrin Repeat Domain-Containing Protein 34A2

External Ids:    HGNC: 276391   Entrez Gene: 2846152   Ensembl: ENSG000001810397   UniProtKB: Q69YU33   

Export aliases for ANKRD34A gene to outside databases

Previous GC identifers: GC01P144182 GC01P119434


(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 ANKRD34A Gene:
ANKRD34A (ankyrin repeat domain 34A) is a protein-coding gene. An important paralog of this gene is ANKRD34C.


(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_000001.10  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ANKRD34A gene promoter:
         Spz1   NF-1   Sp1   Olf-1   RelA   LCR-F1   C/EBPalpha   CHOP-10   HOXA5   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for ANKRD34A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ANKRD34A


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

Entrez Gene cytogenetic band: 1q21.1   Ensembl cytogenetic band:  1q21.1   HGNC cytogenetic band: 1q21.1

ANKRD34A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKRD34A gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P145470:  view genomic region     (about GC identifiers)

Start:
145,470,508 bp from pter      End:
145,475,647 bp from pter
Size:
5,140 bases      Orientation:
plus 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, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: AN34A_HUMAN, Q69YU3 (See protein sequence)
Recommended Name: Ankyrin repeat domain-containing protein 34A  
Size: 496 amino acids; 52636 Da
Secondary accessions: B3KSU3

Explore the universe of human proteins at neXtProt for ANKRD34A: NX_Q69YU3

Explore proteomics data for ANKRD34A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ANKRD34A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001034977.1  
    ENSEMBL proteins: 
     ENSP00000314103  

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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 Q69YU3

    ProtoNet protein and cluster: Q69YU3

    UniProtKB/Swiss-Prot: AN34A_HUMAN, Q69YU3
    Similarity: Belongs to the ANKRD34 family
    Similarity: Contains 4 ANK repeats


    Find genes that share domains with ANKRD34A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with ANKRD34A           About GenesLikeMe


    Animal Models:
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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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus3

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--

    Find genes that share ontologies with ANKRD34A           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 ANKRD34A
    Interactions:

        Search GeneGlobe Interaction Network for ANKRD34A

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

    1 Interacting protein for ANKRD34A (Q69YU33 ENSP000003141034) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IER3IP1Q9Y5U93, ENSP000002564334I2D: score=2 STRING: ENSP00000256433
    About this table

    (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 ANKRD34A (AN34A)



    (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 ANKRD34A gene: 
    NM_001039888.3  

    Unigene Cluster for ANKRD34A:

    Ankyrin repeat domain 34A
    Hs.620591  [show with all ESTs]
    Unigene Representative Sequence: NM_001039888
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000323397(uc001enq.1)
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    hsa-miR-124* hsa-miR-485-5p hsa-miR-4286 hsa-miR-99b* hsa-miR-15a hsa-miR-1224-3p hsa-miR-1205 hsa-miR-218
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    Additional mRNA sequence: 

    AK094282.1 AK128050.1 AL359622.1 

    4 DOTS entries:

    DT.97839527  DT.95110159  DT.121458626  DT.91941242 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD34A    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c
    SP1:                                                
    SP2:                                                
    SP3:                    -     -                     
    SP4:                          -                     


    ECgene alternative splicing isoforms for ANKRD34A

    (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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    ANKRD34A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCTCTAAGC
    ANKRD34A Expression
    About this image

    ANKRD34A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ANKRD34A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.620591
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    In Situ
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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 chordates.

    Orthologs for ANKRD34A gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ankrd34a1 , 5 ankyrin repeat domain 34A1, 5 89.09(n)1
    96.97(a)1
      3 (41.93 cM)5
    5455541  NM_001024851.31  NP_001020022.21 
     965966365 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ankrd34a1 ankyrin repeat domain 34A 59.54(n)
    66.03(a)
      100494120  XM_002938476.2  XP_002938522.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7980971 ankyrin repeat domain-containing protein 34A-like 60.57(n)
    61.08(a)
      798097  XM_005158290.1  XP_005158347.1 


    ENSEMBL Gene Tree for ANKRD34A (if available)
    TreeFam Gene Tree for ANKRD34A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ANKRD34A gene
    ANKRD34C2  ANKRD34B2  
    2 SIMAP similar genes for ANKRD34A using alignment to 1 protein entry:     AN34A_HUMAN:
    ANKRD34C    ANKRD34B

    Find genes that share paralogs with ANKRD34A           About GenesLikeMe



    (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 ANKRD34A (see all 59)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs66822031,2
    C,F--145472582(+) TGCGGG/CCCCCC 1 -- ut51 ese31Minor allele frequency- C:0.06NA 120
    rs1814733811,2
    C--145472741(+) TAGAAA/CCCCCC 1 -- int10--------
    rs1115409191,2
    C--145472788(+) GCTGCT/CTCCCT 1 -- int12Minor allele frequency- C:0.04NA 122
    rs1412412121,2
    --145472799(+) CCCCCC/GACTCA 1 -- int10--------
    rs109108191,2
    C--145473032(+) CTTCAC/GTGCGG 1 -- int10--------
    rs1870461841,2
    C--145473038(+) TGCGGA/GTGCAC 1 -- int10--------
    rs1902402171,2
    --145473112(+) AAGGAA/CTGTAT 1 -- int10--------
    rs1820203411,2
    --145473133(+) TCTCCC/TCCACC 1 -- int10--------
    rs413101181,2
    C,F--145473273(+) CTAGTC/TATCCT 1 -- ut511Minor allele frequency- T:0.03NA 120
    rs13285821,2
    C--145473291(+) TCTCAG/ATCCCG 1 -- ut51 ese33Minor allele frequency- A:0.00MN NA 188

    HapMap Linkage Disequilibrium report for ANKRD34A (145470508 - 145475647 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ANKRD34A (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv15n16CNV Deletion17901297
    dgv46e201CNV Deletion23290073
    esv2422428CNV Duplication17116639
    nsv509457CNV Insertion20534489
    nsv8103CNV Gain18304495
    nsv428212CNV Gain18775914
    dgv346n71CNV Gain21882294
    dgv347n71CNV Gain21882294
    nsv831381CNV Gain17160897
    nsv831370CNV Gain17160897

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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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      --

    (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 ANKRD34A gene integrated from 10 sources:
    (articles sorted by number of sources associating them with ANKRD34A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    3. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
    6. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 284615 HGNC: 27639 Ensembl:ENSG00000181039 euGenes: HUgn284615 ECgene: ANKRD34A
    H-InvDB: ANKRD34A

    (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 ANKRD34A 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 ANKRD34A gene:
    Search GeneIP for patents involving ANKRD34A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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