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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SOWAHA Gene

protein-coding   GIFtS: 35
GCID: GC05P132150

Sosondowah Ankyrin Repeat Domain Family Member A

(Previous name: ankyrin repeat domain 43)
(Previous symbol: ANKRD43)
  Search for SOWAHA
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Sosondowah Ankyrin Repeat Domain Family Member A1 2
ANKRD431 2 3
Ankyrin Repeat Domain 431 2
Ankyrin Repeat Domain-Containing Protein 432 3
Protein Sosondowah Homolog A2 3
Ankyrin Repeat Domain-Containing Protein SOWAHA2

External Ids:    HGNC: 270331   Entrez Gene: 1345482   Ensembl: ENSG000001989447   UniProtKB: Q2M3V23   

Export aliases for SOWAHA gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for SOWAHA Gene: 
SOWAHA (sosondowah ankyrin repeat domain family member A) is a protein-coding gene. An important paralog of this gene is SOWAHB.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.2  NT_034772.6  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for SOWAHA
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSOWAHA promoter sequence
   Search SABiosciences Chromatin IP Primers for SOWAHA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SOWAHA


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

Entrez Gene cytogenetic band: 5q31.1   Ensembl cytogenetic band:  5q31.1   HGNC cytogenetic band: 5q23.3

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

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P132150:  view genomic region     (about GC identifiers)

Start:
132,149,033 bp from pter      End:
132,152,489 bp from pter
Size:
3,457 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SWAHA_HUMAN, Q2M3V2 (See protein sequence)
Recommended Name: Ankyrin repeat domain-containing protein SOWAHA precursor  
Size: 549 amino acids; 57443 Da
Sequence caution: Sequence=AAI04772.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAI04776.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC03975.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q8NAE7

Explore the universe of human proteins at neXtProt for SOWAHA: NX_Q2M3V2

Explore proteomics data for SOWAHA at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q2M3V2

  • SOWAHA Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SOWAHA Protein Expression
    REFSEQ proteins: NP_787069.3  
    ENSEMBL proteins: 
     ENSP00000367965  

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

    2 InterPro protein domains:
     IPR020683 Ankyrin_rpt-contain_dom
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry Q2M3V2

    ProtoNet protein and cluster: Q2M3V2

    UniProtKB/Swiss-Prot: SWAHA_HUMAN, Q2M3V2
    Similarity: Belongs to the SOWAH family
    Similarity: Contains 2 ANK repeats


    SOWAHA for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    SOWAHA for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SOWAHA:
     Decreased p24 protein expressi 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SOWAHA 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SOWAHA

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SOWAHA (SWAHA)

    Search CenterWatch for drugs/clinical trials and news about SOWAHA / SWAHA

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SOWAHA gene: 
    NM_175873.4  

    Unigene Cluster for SOWAHA:

    Sosondowah ankyrin repeat domain family member A
    Hs.13308  [show with all ESTs]
    Unigene Representative Sequence: NM_175873
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000378693(uc003kxw.3)
    miRNA
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    Inhib. RNA
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                         Customized lentivirus expression plasmids for stable overexpression of SOWAHA 
    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SOWAHA

    Additional mRNA sequence: 

    AK090823.1 AK092782.1 BC104771.1 BC104775.1 

    1 DOTS entry:

    DT.310542 

    24/29 AceView cDNA sequences (see all 29):

    AI590291 AW418791 AI823479 CB129478 AK090823 AI744123 AK092782 AX747727 
    AW297103 NM_175873 BG704014 AI521784 N79411 N49602 BM790201 N46913 
    AI914291 N62511 CB047422 BF445519 AI973127 AI284917 CB047421 AI281232 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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


    SOWAHA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Nose (Sensory Organs)
             sensory organ/nose/nasal cavity   
     
     Liver (Hepatobiliary System)
             Liver Lobule
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
     
     Eye (Sensory Organs)
             Mature Horizontal Cells Inner Nuclear Layer
     
     Brain (Nervous System)
             Striatum

    See SOWAHA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SOWAHA

    SOURCE GeneReport for Unigene cluster: Hs.13308
        SABiosciences Custom PCR Arrays for SOWAHA
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOWAHA

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SOWAHA gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sowaha1 , 5 sosondowah ankyrin repeat domain family member A1, 5 77.9(n)1
    79.44(a)1
      11 (31.95 cM)5
    2377611  NM_183173.21  NP_898996.21 
     534765735 
    chicken
    (Gallus gallus)
    Aves LOC1008582911 ankyrin repeat domain-containing protein 43-like 60(n)
    51.57(a)
      100858291  XM_003642092.1  XP_003642140.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BM316790.12   -- 69.09(n)    BM316790.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sowah6
    sosondowah
    12(a)
    1 → many
    3L(12530613-12565642)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SOWAHA gene
    SOWAHB2  SOWAHC2  SOWAHD2  

    SOWAHA for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/106 SNPs in SOWAHA are shown (see all 106)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs762730781,2
    C,F--132147059(+) GTGCGT/CGCCCT 1 -- us2k11Minor allele frequency- C:0.17WA 118
    rs1844825821,2
    --132147202(+) GTATAA/CTACTA 1 -- us2k10--------
    rs1385854531,2
    --132147226(+) CTATCA/TTTAAA 1 -- us2k10--------
    rs623853161,2
    C--132147306(+) GGAAAT/CGTTTA 1 -- us2k12Minor allele frequency- C:0.04NA 122
    rs1493343501,2
    --132147368(+) TTGGAC/TTGGGG 1 -- us2k10--------
    rs1894056411,2
    --132147387(+) CCCTTC/TACATT 1 -- us2k10--------
    rs562095611,2
    C,F--132147446(+) TACTAA/CTAATA 1 -- us2k12Minor allele frequency- C:0.09WA 120
    rs1445948571,2
    --132147459(+) TCAAAC/TGATTA 1 -- us2k10--------
    rs1485158931,2
    --132147616(+) AGAGCC/GAGAAC 1 -- us2k10--------
    rs778617401,2
    C,F--132147653(+) TCTTGT/CTTTCT 1 -- us2k11Minor allele frequency- C:0.15WA 118

    HapMap Linkage Disequilibrium report for SOWAHA (132149033 - 132152489 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SOWAHA: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SOWAHA
    DNA2.0 Custom Variant and Variant Library Synthesis for SOWAHA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
      --

    (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)
    About This Section

    PubMed articles for SOWAHA gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SOWAHA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. An ancient genomic regulatory block conserved across bilaterians and its dismantling in tetrapods by retrogene replacement. (PubMed id 22234889)1, 3 Maeso I....Garcia-FernA ndez J. (2012)
    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. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (2009)
    5. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)2 Schmutz J.... Rubin E.M. (2004)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 134548 HGNC: 27033 AceView: LOC134548 Ensembl:ENSG00000198944 euGenes: HUgn134548
    ECgene: SOWAHA H-InvDB: SOWAHA

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SOWAHA Pharmacogenomics, SNPs, Pathways

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

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
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