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FAM183A Gene

protein-coding   GIFtS: 32
GCID: GC01P043610

Family With Sequence Similarity 183, Member A

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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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Family With Sequence Similarity 183, Member A1 2
hCG231772
Protein FAM183A2

External Ids:    HGNC: 343471   Entrez Gene: 4405852   Ensembl: ENSG000001869737   UniProtKB: A6NL823   
ORGUL members:         

Export aliases for FAM183A gene to outside databases

Previous GC identifers: GC01P043383 GC01P041733


(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 FAM183A Gene:
FAM183A (family with sequence similarity 183, member A) is a protein-coding gene. An important paralog of this gene is FAM183B.


(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_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FAM183A gene promoter:
         POU3F2 (N-Oct-5a)   XBP-1   Nkx2-5   AP-4   RelA   POU3F2   NF-kappaB   S8   FOXO4   NF-kappaB1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM183A


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

Entrez Gene cytogenetic band: 1p34.2   Ensembl cytogenetic band:  1p34.2   HGNC cytogenetic band: 1p34.2

FAM183A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM183A gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P043610:  view genomic region     (about GC identifiers)

Start:
43,610,824 bp from pter      End:
43,622,067 bp from pter
Size:
11,244 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, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: F183A_HUMAN, A6NL82 (See protein sequence)
Recommended Name: Protein FAM183A  
Size: 134 amino acids; 15996 Da
Secondary accessions: B7ZBL8

Explore the universe of human proteins at neXtProt for FAM183A: NX_A6NL82

Explore proteomics data for FAM183A at MOPED


See FAM183A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001094846.2  
ENSEMBL proteins: 
 ENSP00000387249   ENSP00000387018   ENSP00000387254   ENSP00000334415  

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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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ProtoNet protein and cluster: A6NL82

UniProtKB/Swiss-Prot: F183A_HUMAN, A6NL82
Similarity: Belongs to the FAM183 family


(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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Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for FAM183A

miRNA
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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
cytosol2
nucleus2
extracellular1

(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 FAM183A
Interactions:

    Search GeneGlobe Interaction Network for FAM183A

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

1 Interacting protein for FAM183A (ENSP000003344154) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
ENSG00000173503ENSP000003729914STRING: ENSP00000372991
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(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 FAM183A (F183A)



(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 FAM183A gene: 
NM_001101376.2  

Unigene Cluster for FAM183A:

Family with sequence similarity 183, member A
Hs.657614  [show with all ESTs]
Unigene Representative Sequence: BM926539
6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000410048 ENST00000409337 ENST00000410025(uc009vwo.3) ENST00000409396
ENST00000335282 ENST00000481753
miRNA
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7 DOTS entries:

DT.205763  DT.450422  DT.75101928  DT.100745604  DT.92417245  DT.95154830  DT.99976962 

Selected AceView cDNA sequences (see all 44):

AI681257 AW138367 R64685 AI469340 BM976667 BF477758 AW029496 AI633732 
CD239517 BQ025739 AI611120 AA833578 N81028 AA431652 AI201524 BV189645 
BM926539 BF061370 CD239034 BU676445 AI635061 AI685578 AI336882 AA431291 

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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FAM183A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ACCGCAGGCT
FAM183A Expression
About this image


FAM183A expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Paraxial Mesoderm (Gastrulation Derivatives)
         PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
 
 Neural Crest (Gastrulation Derivatives)
         PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
FAM183A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

FAM183A Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.657614
    Custom PCR Arrays for FAM183A
Primer
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM183A

(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 FAM183A gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chicken
(Gallus gallus)
Aves FAM183A6
Gallus gallus family with sequence similarity 183,...
53(a)
1 → many
8(18513214-18515085)
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
49(a)
1 → many
4(107023339-107026366)
zebrafish
(Danio rerio)
Actinopterygii FAM183B6
family with sequence similarity 183, member B
44(a)
1 → many
6(33836655-33840003) ENSDARG00000087144
        Species with no ortholog for FAM183A

ENSEMBL Gene Tree for FAM183A (if available)
TreeFam Gene Tree for FAM183A (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for FAM183A gene
FAM183B2  
2 SIMAP similar genes for FAM183A using alignment to 5 protein entries:     F183A_HUMAN (see all proteins):
FAM183B    THEG6

Find genes that share paralogs with FAM183A           About GenesLikeMe


3 Pseudogenes.org Pseudogenes for FAM183A
PGOHUM00000244434 PGOHUM00000240231 PGOHUM00000249606


(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 FAM183A (see all 289)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1890800441,2
--43611657(+) GGACTA/GTCTCT 1 -- us2k10--------
rs1814966261,2
--43611682(+) GTGGGC/TCAACT 1 -- us2k10--------
rs121348511,2
H--43611693(+) ggataC/Gtcctt 1 -- us2k14Minor allele frequency- G:0.00NS EA 420
rs617769101,2
C,F--43611863(+) GAAGTG/ATAAAA 1 -- us2k12Minor allele frequency- A:0.04NA 122
rs1168577941,2
C,F--43611938(+) TCAAAC/TGTTGA 1 -- us2k11Minor allele frequency- T:0.02EA 120
rs1860387611,2
--43611955(+) GACAAA/GTTGGA 1 -- us2k10--------
rs601280921,2
C,F--43612017(+) TCTCTT/GAATGC 1 -- us2k15Minor allele frequency- G:0.17WA CSA NA EA 362
rs6539071,2
C,F,O,A,H--43612105(+) TAAAAG/ATAACC 1 -- us2k118Minor allele frequency- A:0.37MN NS EA NA WA CSA 1024
rs6945571,2
C,F,A,H--43612144(+) TTAAAA/C/TGAAAA 1 -- us2k1 tfbs320NS EA NA CSA WA 1346
rs799399221,2
C--43612326(+) AACAAA/TCCAAT 1 -- us2k10--------

HapMap Linkage Disequilibrium report for FAM183A (43610824 - 43622067 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for FAM183A:    About this table    
Variant IDTypeSubtypePubMed ID
nsv829693CNV Loss17160897

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing FAM183A
DNA2.0 Custom Variant and Variant Library Synthesis for FAM183A

(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 FAM183A gene integrated from 10 sources:
(articles sorted by number of sources associating them with FAM183A)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
  2. The sequence of the human genome. (PubMed id 11181995)1, 3 Venter J.C.... Zhu X. (Science 2001)
  3. Global analysis of host-pathogen interactions that regulate early-stage HIV-1 replication. (PubMed id 18854154)1 KAPnig R....Chanda S.K. (Cell 2008)

(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: 440585 HGNC: 34347 AceView: LOC440585 Ensembl:ENSG00000186973 euGenes: HUgn440585
ECgene: FAM183A H-InvDB: FAM183A

(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 FAM183A 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 FAM183A gene:
Search GeneIP for patents involving FAM183A

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, 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 genOway)
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