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

FAM189A1 Gene

protein-coding   GIFtS: 40
GCID: GC15M029412

Family With Sequence Similarity 189, Member A1

  Search for FAM189A1
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
Family With Sequence Similarity 189, Member A11 2
Transmembrane Protein 2281 2 3
TMEM2282 3
Protein FAM189A12
KIAA05743

External Ids:    HGNC: 290751   Entrez Gene: 233592   Ensembl: ENSG000001040597   UniProtKB: O603203   

Export aliases for FAM189A1 gene to outside databases

Previous GC identifer: GC15M007069


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

GeneCards Summary for FAM189A1 Gene: 
FAM189A1 (family with sequence similarity 189, member A1) is a protein-coding gene. An important paralog of this gene is FAM189A2.


(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_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for FAM189A1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for FAM189A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM189A1


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

Entrez Gene cytogenetic band: 15q13.1   Ensembl cytogenetic band:  15q13.1   HGNC cytogenetic band: 15q12

FAM189A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM189A1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M029412:  view genomic region     (about GC identifiers)

Start:
29,412,455 bp from pter      End:
29,862,927 bp from pter
Size:
450,473 bases      Orientation:
minus 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: F1891_HUMAN, O60320 (See protein sequence)
Recommended Name: Protein FAM189A1  
Size: 539 amino acids; 56544 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Sequence caution: Sequence=BC127817; Type=Frameshift; Positions=177; Sequence=BG752856; Type=Frameshift;
Positions=Several;
Secondary accessions: A0PK09
Alternative splicing: 2 isoforms:  O60320-1   O60320-2   

Explore the universe of human proteins at neXtProt for FAM189A1: NX_O60320

Explore proteomics data for FAM189A1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O60320

  • FAM189A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FAM189A1 Protein Expression
    REFSEQ proteins: NP_056122.1  
    ENSEMBL proteins: 
     ENSP00000261275   ENSP00000452860  

    Human Recombinant Protein Products for FAM189A1: 
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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--

    FAM189A1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR007237 CD20-like

    Graphical View of Domain Structure for InterPro Entry O60320

    ProtoNet protein and cluster: O60320

    UniProtKB/Swiss-Prot: F1891_HUMAN, O60320
    Similarity: Belongs to the FAM189 family


    FAM189A1 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

    Animal Models:
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM189A1


    (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 FAM189A1

    (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 FAM189A1 (F1891)

    Search CenterWatch for drugs/clinical trials and news about FAM189A1 / F1891

    (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 FAM189A1 gene: 
    NM_015307.1  

    Unigene Cluster for FAM189A1:

    Family with sequence similarity 189, member A1
    Hs.383564  [show with all ESTs]
    Unigene Representative Sequence: NM_015307
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261275(uc001zcn.2 uc010azk.1) ENST00000560021 ENST00000560082
    ENST00000560050
    miRNA
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    hsa-miR-323-3p hsa-miR-3685 hsa-miR-142-5p hsa-let-7d hsa-miR-202 hsa-miR-106a hsa-miR-503 hsa-let-7c
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    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector: FAM189A1 (NM_015307)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAM189A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM189A1
    Sirion Biotech Customized lentivirus for stable overexpression of FAM189A1 
                         Customized lentivirus expression plasmids for stable overexpression of FAM189A1 
    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM189A1

    Additional mRNA sequence: 

    AB011146.1 AK295622.1 BC127817.1 

    3 DOTS entries:

    DT.112667  DT.121070301  DT.304846 

    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

    FAM189A1 expression in normal human tissues (normalized intensities)      FAM189A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    FAM189A1 Expression
    About this image


    FAM189A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Brain (Nervous System)
             hippocampus   
     
     Bone (Muscoskeletal System)
             Zeugopod Epiphyseal End
     
     Epithelium
             Human Choroid Plexus Epithelial Cells (HCPEpiC)   
     
     Choroid Plexus (Uncategorized)
             Human Choroid Plexus Epithelial Cells (HCPEpiC)   

    See FAM189A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM189A1

    SOURCE GeneReport for Unigene cluster: Hs.383564
        SABiosciences Custom PCR Arrays for FAM189A1
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM189A1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM189A1

    (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 chordates.

    Orthologs for FAM189A1 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam189a11 , 5 family with sequence similarity 189, member A11, 5 81.13(n)1
    80.93(a)1
      7 (34.70 cM)5
    706381  NM_183087.41  NP_898910.21 
     647561135 
    chicken
    (Gallus gallus)
    Aves FAM189A11 family with sequence similarity 189, member A1 67.32(n)
    66.81(a)
      415387  XM_413772.3  XP_413772.3 
    lizard
    (Anolis carolinensis)
    Reptilia FAM189A16
    family with sequence similarity 189, member A1
    43(a)
    1 ↔ 1
    GL343644.1(271780-302250)
    zebrafish
    (Danio rerio)
    Actinopterygii fam189a11 family with sequence similarity 189, member A1 59.95(n)
    59.48(a)
      436705  XM_003198968.1  XP_003199016.1 


    ENSEMBL Gene Tree for FAM189A1 (if available)
    TreeFam Gene Tree for FAM189A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAM189A1 gene
    FAM189A22  FAM189B2  
    1 SIMAP similar gene for FAM189A1 using alignment to 2 protein entries:     F1891_HUMAN (see all proteins):
    FAM189B

    FAM189A1 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

    10/9824 SNPs in FAM189A1 are shown (see all 9824)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs718950731,2
    C--9531107(+) GTCTC-/AAACAA
            
    AAACA
    1 -- int10--------
    rs1117421431,2
    C--29411973(+) GGAAT-/GAAGA 
            
    GAAAT
    1 -- int11Minor allele frequency- GAAGA:0.50CSA 2
    rs116381811,2
    C,F,A,H--29412047(+) CCTGCT/CGTGCC 1 -- int124Minor allele frequency- C:0.37NS EA NA WA CSA 2330
    rs116342741,2
    C,H--29412064(+) AAGGCA/GGGGAA 1 -- int110Minor allele frequency- G:0.44NA WA CSA EA 370
    rs116342751,2
    C,F,A,H--29412079(+) GTCCCA/GGGGAG 1 -- int115Minor allele frequency- G:0.44NS EA NA WA CSA 786
    rs1419293981,2
    --29412084(+) GGGGAA/GAGAGC 1 -- int10--------
    rs1156164331,2
    F--29412097(+) TGGCTA/GGCTGA 1 -- int11Minor allele frequency- G:0.01WA 118
    rs116343091,2
    C,F,A,H--29412162(+) TTAAGA/GAAACA 1 -- int111Minor allele frequency- G:0.30WA NA CSA EA 372
    rs116382171,2
    C,A,H--29412169(+) AACATT/CTGAGC 1 -- int114Minor allele frequency- C:0.18NA WA CSA EA 377
    rs1890210141,2
    C--29412180(+) CATGGC/TCTGCA 1 -- int10--------

    HapMap Linkage Disequilibrium report for FAM189A1 (29412455 - 29662455 bp, first 250kb of FAM189A1)

    Structural Variations
         Database of Genomic Variants (DGV) 10/40 variations for FAM189A1 (see all 40):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2668832CNV Deletion23128226
    esv2525505CNV Deletion19546169
    esv2676098CNV Deletion23128226
    esv2658156CNV Deletion23128226
    esv2669303CNV Deletion23128226
    nsv99CNV Insertion15895083
    nsv513426CNV Insertion21212237
    nsv513425CNV Insertion21212237
    esv2560892CNV Insertion19546169
    esv1396021CNV Insertion17803354

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    (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

    FAM189A1 for disorders           About MalaCards

    FAM189A1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): FAM189A1
    Human Genome Epidemiology (HuGE) Navigator: FAM189A1 (4 documents)

    Export disorders for FAM189A1 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)
    About This Section

    PubMed articles for FAM189A1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with FAM189A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 2, 3 Nagase T....Ohara O. (1998)
    2. Genome-wide association of implantable cardioverter-de fibrillator activation with life-threatening arrhythmias. (PubMed id 22247754)1, 4 Murray S.S....Topol E.J. (2012)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1, 2 Kimura K.... Sugano S. (2006)
    6. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)
    7. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    8. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)2 Zody M.C....Nusbaum C. (2006)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    10. 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: 23359 HGNC: 29075 Ensembl:ENSG00000104059 euGenes: HUgn23359 ECgene: FAM189A1
    H-InvDB: FAM189A1

    (According to HUGE)
    About This Section
    HUGE: KIAA0574

    (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 FAM189A1 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 FAM189A1 gene:
    Search GeneIP for patents involving FAM189A1

    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
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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