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

MRFAP1L1 Gene

protein-coding   GIFtS: 41
GCID: GC04M006709

Morf4 family associated protein 1-like 1

  Search for MRFAP1L1
in our new
 Human Malady Compendium 
Biological research products
for MRFAP1L1
    

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

Aliases
Morf4 Family Associated Protein 1-Like 11 2
MGC96511
MORF4 Family-Associated Protein 1-Like 12

External Ids:    HGNC: 287961   Entrez Gene: 1149322   Ensembl: ENSG000001789887   UniProtKB: Q96HT83   

Export aliases for MRFAP1L1 gene to outside databases

Previous GC identifers: GC04M006828 GC04M006641


(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_000004.11  NC_018915.1  NT_006051.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MRFAP1L1 gene promoter:
         Max1   NRSF form 1   HTF   Olf-1   CUTL1   NRSF form 2   Arnt   GATA-1   COMP1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMRFAP1L1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MRFAP1L1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MRFAP1L1


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

Entrez Gene cytogenetic band: 4p16.1   Ensembl cytogenetic band:  4p16.1   HGNC cytogenetic band: 4p16.1

MRFAP1L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MRFAP1L1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M006709:  view genomic region     (about GC identifiers)

Start:
6,709,428 bp from pter      End:
6,711,607 bp from pter
Size:
2,180 bases      Orientation:
minus 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: MR1L1_HUMAN, Q96HT8 (See protein sequence)
Recommended Name: MORF4 family-associated protein 1-like 1  
Size: 127 amino acids; 14808 Da
Sequence caution: Sequence=AAF67011.1; Type=Frameshift; Positions=89;
Secondary accessions: B2R6R0 Q6NXT8 Q9P0J5

Explore the universe of human proteins at neXtProt for MRFAP1L1: NX_Q96HT8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96HT8

  • MRFAP1L1 Protein expression data from MOPED and PaxDb:    About this image 
    MRFAP1L1 Protein Expression
    REFSEQ proteins: NP_982287.1  
    ENSEMBL proteins: 
     ENSP00000318154  

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

    ProtoNet protein and cluster: Q96HT8

    UniProtKB/Swiss-Prot: MR1L1_HUMAN, Q96HT8
    Similarity: Belongs to the MORF4 family-associated protein family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Phenotypes:
         1 GenomeRNAi human phenotype for MRFAP1L1:
     Increased number of cells in m 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MRFAP1L1 

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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 MRFAP1L1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/11 Interacting proteins for MRFAP1L1 (Q96HT81, 2, 3 ENSP000003181544) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MORF4L1Q9UBU82, 3, ENSP000003313104MINT-67390 I2D: score=4 STRING: ENSP00000331310
    TSNAXQ995983, ENSP000003555994I2D: score=2 STRING: ENSP00000355599
    BYSLQ138953I2D: score=1 
    CDK2AP1O145193I2D: score=1 
    PIK3R2O004593I2D: score=1 
    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 MRFAP1L1
    Search CenterWatch for drugs/clinical trials and news about MRFAP1L1 / MR1L1 

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    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 MRFAP1L1 gene (2 alternative transcripts): 
    NM_152301.3  NM_203462.2  

    Unigene Cluster for MRFAP1L1:

    Morf4 family associated protein 1-like 1
    Hs.593159  [show with all ESTs]
    Unigene Representative Sequence: AF258591
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000500563(uc021xlc.1) ENST00000320848(uc003gjo.3)

    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate MRFAP1L1:
    hsa-miR-3622b-3p hsa-miR-342-3p
    SwitchGear 3'UTR luciferase reporter plasmidMRFAP1L1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MRFAP1L1
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: MRFAP1L1 (NM_203462)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MRFAP1L1 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MRFAP1L1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MRFAP1L1

    Additional cDNA sequence: 

    AF155654.1 AF258591.1 AK312676.1 BC008087.1 BC066897.1 

    8 DOTS entries:

    DT.100879320  DT.91742629  DT.454684  DT.121229729  DT.100036426  DT.121229752  DT.91809766  DT.101984837 

    24/320 AceView cDNA sequences (see all 320):

    AI886220 BE744496 BX380435 AA601582 CR590278 BM725678 BU735596 BM698198 
    AA659711 BI092006 AA311957 AA659730 CR603188 BF438937 BM697819 AI360691 
    BQ672459 CR607295 CR592660 CR595817 CR602726 T48541 AA307201 AI815511 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for MRFAP1L1    About this scheme

    ExUns: 1a · 1b ^ 2
    SP1:                  
    SP2:                  


    ECgene alternative splicing isoforms for MRFAP1L1

    (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

    MRFAP1L1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACCAAAGCCC
    MRFAP1L1 Expression
    About this image
    See MRFAP1L1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MRFAP1L1

    SOURCE GeneReport for Unigene cluster: Hs.593159
        SABiosciences Custom PCR Arrays for MRFAP1L1

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MRFAP1L1

    (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
      --

    ENSEMBL Gene Tree for MRFAP1L1 (if available)
    TreeFam Gene Tree for MRFAP1L1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MRFAP1L1 gene
    MRFAP12  
    1 SIMAP similar gene for MRFAP1L1 using alignment to 1 protein entry:     MR1L1_HUMAN:
    MRFAP1

    MRFAP1L1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MRFAP1L1
    PGOHUM00000245818


    (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

    10/94 NCBI SNPs in MRFAP1L1 are shown (see all 94    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs117267981,2
    C,F,H--6708947(+) GAACTC/GGAAAG 1 -- int119Minor allele frequency- G:0.02NA NS EA WA CSA 800
    rs357942431,2
    C--6709037(+) GAATTCA/-CACAC 1 -- int11Minor allele frequency- -:0.00CSA 2
    rs599169001,2
    C--6709042(+) CACACAC/-TTCCC 1 -- int11Minor allele frequency- -:0.00NA 2
    rs46890361,2
    C,F,H--6709075(+) CAGGGC/ATCCCA 1 -- int115Minor allele frequency- A:0.01NS EA NA WA CSA 552
    rs730912041,2
    C,F--6709098(+) GCACTC/GTATGT 1 -- int14Minor allele frequency- G:0.16WA CSA 124
    rs1931459881,2
    C--6709141(+) ATTCGA/CCCCAT 1 -- int10--------
    rs1856386271,2
    --6709145(+) GCCCCA/GTCCAT 1 -- int10--------
    rs1480642271,2
    --6709186(+) ATAGGA/CTATGA 1 -- int10--------
    rs1435860931,2
    --6709316(+) CCATAG/TCACCT 1 -- int10--------
    rs46895231,2
    C,F,A,H--6709345(+) TCAGTT/CAAAGG 1 -- int123Minor allele frequency- C:0.28NS EA NA WA 2766

    HapMap Linkage Disequilibrium report for MRFAP1L1 (6709428 - 6711607 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for MRFAP1L1: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MRFAP1L1
    DNA2.0 Custom Variant and Variant Library Synthesis for MRFAP1L1

    (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
      --

    (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 MRFAP1L1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with MRFAP1L1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    2. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    3. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    4. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    6. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
    7. 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)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    9. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)2 Wan D....Gu J. (2004)
    10. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)2 Hu R.-M.... Chen J.-L. (2000)

    (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: 114932 HGNC: 28796 AceView: PP784 Ensembl:ENSG00000178988 euGenes: HUgn114932
    ECgene: MRFAP1L1 H-InvDB: MRFAP1L1

    (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 MRFAP1L1 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 MRFAP1L1 gene:
    Search GeneIP for patents involving MRFAP1L1

    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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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)
    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013 , 14 May 2013

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    von Willebrand factor
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