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FAM189A1 Gene

protein-coding   GIFtS: 41
GCID: GC15M029412

Family With Sequence Similarity 189, Member A1

  See related disease
at  

(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
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for FAM189A1 Gene:
FAM189A1 (family with sequence similarity 189, member A1) is a protein-coding gene. Diseases associated with FAM189A1 include obesity. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NT_187660.1  NC_000015.10  NC_018926.2  NT_010194.18  
Regulatory elements:
   Search for regulatory transcription factor binding sites for FAM189A1
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: F1891_HUMAN, O60320 (See protein sequence)
Recommended Name: Protein FAM189A1  
Size: 539 amino acids; 56544 Da
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


See FAM189A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_056122.1  
ENSEMBL proteins: 
 ENSP00000261275   ENSP00000452860  

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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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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,
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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FAM189A1
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miRNA
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miRTarBase miRNAs that target FAM189A1:
hsa-mir-335-5p (MIRT019119)

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Selected qRT-PCR Assays for microRNAs that regulate FAM189A1 (see all 31):
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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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM189A1

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM189A1


(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
F1891_HUMAN, O60320: Membrane; Multi-pass membrane protein (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane3
golgi apparatus1
lysosome1
mitochondrion1

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

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral component of membrane IEA--

FAM189A1 for ontologies           About GeneDecksing


(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 FAM189A1
Interactions:

    Search GeneGlobe Interaction Network for FAM189A1

(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
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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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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Selected qRT-PCR Assays for microRNAs that regulate FAM189A1 (see all 31):
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
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat FAM189A1
Clone
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM189A1
Primer
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Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FAM189A1
  QuantiTect SYBR Green Assays in human, mouse, rat FAM189A1
  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™, 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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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
 
 Bone (Muscoskeletal System)
         Zeugopod Epiphyseal End
FAM189A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

FAM189A1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.383564
    Custom PCR Arrays for FAM189A1
Primer
Products:
OriGene qSTAR qPCR primer pairs in human, mouse for FAM189A1
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FAM189A1
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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)
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This gene was present in the common ancestor of chordates.

Orthologs for FAM189A1 gene from Selected species (see all 11)    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 81.19(n)1
81.32(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 68.14(n)
67.81(a)
  415387  XM_413772.4  XP_413772.4 
lizard
(Anolis carolinensis)
Reptilia FAM189A16
family with sequence similarity 189, member A1
42(a)
1 ↔ 1
GL343644.1(271780-302250)
tropical clawed frog
(Xenopus tropicalis)
Amphibia fam189a11 family with sequence similarity 189, member A1 67.13(n)
68.76(a)
  779825  NM_001078904.1  NP_001072372.1 
zebrafish
(Danio rerio)
Actinopterygii fam189a11 family with sequence similarity 189, member A1 62.72(n)
63.65(a)
  436705  XM_003198968.2  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)
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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), 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 FAM189A1 (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) Selected 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

Site Specific Mutation Identification with PCR Assays
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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.)
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1 disease for FAM189A1:    About MalaCards
obesity


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)
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PubMed articles for FAM189A1 gene, integrated from 10 sources (see all 11):
(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. (DNA Res. 1998)
  2. Genome-wide association of implantable cardioverter-defibrillator activation with life-threatening arrhythmias. (PubMed id 22247754)1, 4 Murray S.S....Topol E.J. (PLoS ONE 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. (Mol. Med. 2010)
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 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. (Genome Res. 2006)
  6. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
  7. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
  8. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)
  9. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)2 Zody M.C....Nusbaum C. (Nature 2006)
  10. 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. (Genome Res. 2004)

(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: 23359 HGNC: 29075 Ensembl:ENSG00000104059 euGenes: HUgn23359 ECgene: FAM189A1
H-InvDB: FAM189A1

(According to HUGE)
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HUGE: KIAA0574

(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 FAM189A1 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 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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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

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