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

FAM8A1 Gene

protein-coding   GIFtS: 43
GCID: GC06P017600

family with sequence similarity 8, member A1

 Explore 1 disease affiliated with
FAM8A1 via our new
 Human Malady Compendium 
Biological research products
for FAM8A1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Family With Sequence Similarity 8, Member A11 2
AHCP1 2 3
Autosomal Highly Conserved Protein2 3
Protein FAM8A12

External Ids:    HGNC: 163721   Entrez Gene: 514392   Ensembl: ENSG000001374147   UniProtKB: Q9UBU63   

Export aliases for FAM8A1 gene to outside databases

Previous GC identifers: GC06P017658 GC06P017708 GC06P017545


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

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FAM8A1 gene promoter:
         C/EBPbeta   p53   AML1a   CUTL1   E4BP4   MZF-1   NF-kappaB2   Sox9   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM8A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for FAM8A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM8A1


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

Entrez Gene cytogenetic band: 6p23   Ensembl cytogenetic band:  6p22.3   HGNC cytogenetic band: 6p23

FAM8A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM8A1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P017600:  view genomic region     (about GC identifiers)

Start:
17,600,518 bp from pter      End:
17,611,950 bp from pter
Size:
11,433 bases      Orientation:
plus strand

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

UniProtKB/Swiss-Prot: FA8A1_HUMAN, Q9UBU6 (See protein sequence)
Recommended Name: Protein FAM8A1  
Size: 413 amino acids; 44123 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: B2R725

Explore the universe of human proteins at neXtProt for FAM8A1: NX_Q9UBU6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UBU6

  • FAM8A1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_057339.1  
    ENSEMBL proteins: 
     ENSP00000259963  

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    Uscn Proteins for FAM8A1

    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--


    FAM8A1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    FAM8A1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR010432 RDD

    Graphical View of Domain Structure for InterPro Entry Q9UBU6

    ProtoNet protein and cluster: Q9UBU6

    1 Blocks protein family: IPB010432 RDD

    UniProtKB/Swiss-Prot: FA8A1_HUMAN, Q9UBU6
    Similarity: Contains 1 RDD domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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    hsa-miR-579 hsa-miR-429 hsa-miR-200a hsa-miR-548l hsa-miR-141 hsa-miR-1273d hsa-miR-183* hsa-miR-9
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FAM8A1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for FAM8A1 (ENSP000002599634) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SEL1LENSP000003370534STRING: ENSP00000337053
    SYVN1ENSP000003663954STRING: ENSP00000366395
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 FAM8A1
    Search CenterWatch for drugs/clinical trials and news about FAM8A1 / FA8A1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FAM8A1 gene: 
    NM_016255.2  

    Unigene Cluster for FAM8A1:

    Family with sequence similarity 8, member A1
    Hs.95260  [show with all ESTs]
    Unigene Representative Sequence: NM_016255
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000259963(uc003ncc.3)

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    hsa-miR-579 hsa-miR-429 hsa-miR-200a hsa-miR-548l hsa-miR-141 hsa-miR-1273d hsa-miR-183* hsa-miR-9
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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM8A1
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    Additional cDNA sequence: 

    AF086479.1 AF097027.1 AK074301.1 AK296393.1 AK307681.1 AK312814.1 AL050128.1 BC047881.1 

    2 DOTS entries:

    DT.211606  DT.100688696 

    24/182 AceView cDNA sequences (see all 182):

    CD244058 CB155681 BQ720425 BU753053 AI417454 BM542075 BM996027 BM712759 
    AW304962 AI474344 BU188115 AI249896 CB158899 AI914916 AI696410 AV720532 
    AV659414 BM676104 AA343954 AI285169 AI870078 AA044817 BX505712 AA719094 

    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

    FAM8A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTGCCTGGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See FAM8A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM8A1

    SOURCE GeneReport for Unigene cluster: Hs.95260

    UniProtKB/Swiss-Prot: FA8A1_HUMAN, Q9UBU6
    Tissue specificity: Ubiquitously expressed, with a higher level of expression in testis

        SABiosciences Custom PCR Arrays for FAM8A1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM8A1

    (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 FAM8A1 gene from 7/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia C783391 , 5 expressed sequence C783391, 5 83.21(n)1
    80.82(a)1
      13 (24.28 cM)5
    978631  NM_001033192.21  NP_001028364.11 
     466695225 
    chicken
    (Gallus gallus)
    Aves FAM8A11 family with sequence similarity 8, member A1 69.96(n)
    70.06(a)
      771369  XM_001234652.2  XP_001234653.2 
    lizard
    (Anolis carolinensis)
    Reptilia FAM8A16
    --
    61(a)
    1 ↔ 1
    4(59094322-59109011)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AL878416.22   -- 76.48(n)    AL878416.2 
    zebrafish
    (Danio rerio)
    Actinopterygii CF998256.12   -- 74.77(n)   325147  CF998256.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG82371 CG8237 46.91(n)
    34.07(a)
      35891  NM_136581.2  NP_610425.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F48B9.86
    Protein F48B9.8
    19(a)
    1 ↔ 1
    X(2174022-2176406)


    ENSEMBL Gene Tree for FAM8A1 (if available)
    TreeFam Gene Tree for FAM8A1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAM8A1 gene

    FAM8A1 for paralogs           About GeneDecksing


    5/8 Pseudogenes.org Pseudogenes for FAM8A1 (see all 8)
    PGOHUM00000242273 PGOHUM00000240979 PGOHUM00000243383 PGOHUM00000262551 PGOHUM00000236892


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/301 NCBI SNPs in FAM8A1 are shown (see all 301    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1418685521,2
    --17598531(+) TCCGTA/CTTTCC 1 -- us2k10--------
    rs2017190781,2
    --17598555(+) AGAAA-/CCAAAA 1 -- us2k10--------
    rs1448057901,2
    C,--17598622(+) CACCC-/CTTTCTG 1 -- us2k10--------
    rs1820792411,2
    --17598710(+) CGAGGC/TGGGTG 1 -- us2k10--------
    rs94650491,2
    --17598751(+) cctggC/Tcaaca 1 -- us2k10--------
    rs1868048611,2
    --17598804(+) TGGGCA/GTGATG 1 -- us2k10--------
    rs1393114451,2
    --17598813(+) TGGCGA/GGCGCT 1 -- us2k10--------
    rs94650501,2
    C,--17598868(+) GAACCC/TGGGAG 1 -- us2k18Minor allele frequency- T:0.00NA WA CSA 14
    rs1930955311,2
    --17598873(+) TGGGAC/GGGGGA 1 -- us2k10--------
    rs1841678421,2
    --17599058(+) GCTGCA/GGACAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FAM8A1 (17600518 - 17611950 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for FAM8A1
         1 CNV: 4486
    Human Gene Mutation Database (HGMD): FAM8A1

    SABiosciences Cancer Mutation PCR Assays
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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.)
    About This Section

    FAM8A1 for disorders           About GeneDecksing

    1 disease for FAM8A1:    About MalaCards
    small intestine lymphoma


    Export disorders for FAM8A1 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 FAM8A1 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with FAM8A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Transduction of the human gene FAM8A1 by endogenous retrovirus during primate evolution. (PubMed id 11707071)1, 2, 3 Jamain S....Bourgeron T. (2001)
    2. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PubMed id 15144186)1, 2 Brill L.M....Peters E.C. (2004)
    3. 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)
    4. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    5. Identification of novel ATP13A2 interactors and their role in a-synuclein misfolding and toxicity. (PubMed id 22645275)1 Usenovic M....Krainc D. (2012)
    6. Defining human ERAD networks through an integrative mapping strategy. (PubMed id 22119785)1 Christianson J.C.... Kopito R.R. (2012)
    7. Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)2 Daub H.... Mann M. (2008)
    8. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)

    (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: 51439 HGNC: 16372 AceView: FAM8A1 Ensembl:ENSG00000137414 euGenes: HUgn51439
    ECgene: FAM8A1 H-InvDB: FAM8A1

    (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 FAM8A1 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 FAM8A1 gene:
    Search GeneIP for patents involving FAM8A1

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    VWF
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    von Willebrand factor
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