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MYCBPAP Gene

protein-coding   GIFtS: 49
GCID: GC17P048585

MYCBP Associated Protein

  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
MYCBP Associated Protein1 2     AMY-1-Binding Protein 12 3
AMAP12 3 5     AMY1-Associating Protein 12
AMAM-12 3     MYCBP-Associated Protein2
AMAP-12 3     

External Ids:    HGNC: 196771   Entrez Gene: 840732   Ensembl: ENSG000001364497   OMIM: 6098355   UniProtKB: Q8TBZ23   

Export aliases for MYCBPAP gene to outside databases

Previous GC identifers: GC17P049061 GC17P045940 GC17P043953


(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 MYCBPAP Gene:
MYCBPAP (MYCBP associated protein) is a protein-coding gene. Diseases associated with MYCBPAP include choroiditis.

UniProtKB/Swiss-Prot: MYBPP_HUMAN, Q8TBZ2
Function: May play a role in spermatogenesis. May be involved in synaptic processes (By similarity)




(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:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for MYCBPAP
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYCBPAP promoter sequence
   Search Chromatin IP Primers for MYCBPAP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MYCBPAP


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

Entrez Gene cytogenetic band: 17q21.33   Ensembl cytogenetic band:  17q21.33   HGNC cytogenetic band: 17q21.33

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P048585:  view genomic region     (about GC identifiers)

Start:
48,585,745 bp from pter      End:
48,608,862 bp from pter
Size:
23,118 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, 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: MYBPP_HUMAN, Q8TBZ2 (See protein sequence)
Recommended Name: MYCBP-associated protein  
Size: 947 amino acids; 108153 Da
Subunit: Interacts with MYCBP
Secondary accessions: A6NHJ3 Q8TDV8 Q9H0K0

Explore the universe of human proteins at neXtProt for MYCBPAP: NX_Q8TBZ2

Explore proteomics data for MYCBPAP at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MYCBPAP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_115509.4  
    ENSEMBL proteins: 
     ENSP00000323184   ENSP00000459714   ENSP00000407719   ENSP00000407145   ENSP00000397686  
     ENSP00000414583   ENSP00000464992   ENSP00000465746   ENSP00000465337   ENSP00000397209  

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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: Q8TBZ2


    (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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYBPP_HUMAN, Q8TBZ2
    Function: May play a role in spermatogenesis. May be involved in synaptic processes (By similarity)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12151104
         
    MYCBPAP for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for MYCBPAP:
     Decreased number of cells in m  Increased cell number in G2M,  

    Animal Models:
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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 UniProtKB/Swiss-Prot
    MYBPP_HUMAN, Q8TBZ2: Cytoplasm. Membrane (By similarity). Note=Colocalizes with MYCBP in the cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion2
    cytosol1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA12151104
    GO:0016020membrane IEA--

    MYCBPAP 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 MYCBPAP
    Interactions:

        Search GeneGlobe Interaction Network for MYCBPAP

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    Selected Interacting proteins for MYCBPAP (Q8TBZ21, 2, 3 ENSP000003231844) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCBPQ994171, 3, ENSP000003807024EBI-1391585,EBI-716185 I2D: score=3 STRING: ENSP00000380702
    CASP4P496623, ENSP000003885664I2D: score=2 STRING: ENSP00000388566
    PRKAR2AP138613, ENSP000002655634I2D: score=1 STRING: ENSP00000265563
    CDK19Q9BWU13, ENSP000003579074I2D: score=2 STRING: ENSP00000357907
    VHLP403373I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007268synaptic transmission ISS--
    GO:0007275multicellular organismal development IEA--
    GO:0007283spermatogenesis IEP12151104
    GO:0030154cell differentiation IEA--

    MYCBPAP for ontologies           About GeneDecksing



    (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 MYCBPAP (MYBPP)



    (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 MYCBPAP gene: 
    NM_032133.4  

    Unigene Cluster for MYCBPAP:

    MYCBP associated protein
    Hs.398196  [show with all ESTs]
    Unigene Representative Sequence: NM_032133
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000323776(uc010wmr.2 uc002iqz.3) ENST00000470609 ENST00000576179
    ENST00000419930 ENST00000452039 ENST00000458692 ENST00000437498 ENST00000468821
    ENST00000459754 ENST00000488432 ENST00000485169 ENST00000477744 ENST00000573066
    ENST00000436259
    miRNA
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    Additional mRNA sequence: 

    AB083068.1 AK127992.1 AK303041.1 AK314052.1 AL136765.1 BC028393.2 BC036358.1 

    8 DOTS entries:

    DT.101935  DT.120965957  DT.95267785  DT.70103968  DT.95280336  DT.100722323  DT.120965962  DT.92420675 

    Selected AceView cDNA sequences (see all 58):

    BM559592 AL042715 BX492666 BI462767 BC036358 BP368824 AI656008 BI830141 
    BG718526 BF980309 AL079750 BX106321 BE551617 BF222708 AW297114 AI142370 
    AI634081 NM_032133 BG037198 BF980036 AK127992 BV205581 AL832225 CD557775 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for MYCBPAP    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^
    SP1:                    -                 -                                   -                                                           -                     
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                    -                                                                                                                                       
    SP5:                                                                                                                                                            

    ExUns: 19 ^ 20
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for MYCBPAP

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


    MYCBPAP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
     
     Brain (Nervous System)
             Choroid Plexus
     
     Testis (Reproductive System)
    MYCBPAP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MYCBPAP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.398196

    UniProtKB/Swiss-Prot: MYBPP_HUMAN, Q8TBZ2
    Tissue specificity: Expressed specifically in testis

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    In Situ
    Assay Products:
     

     
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    (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 MYCBPAP gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mycbpap1 , 5 MYCBP associated protein1, 5 77.31(n)1
    71.57(a)1
      11 (58.90 cM)5
    1046011  NM_170671.21  NP_733771.21 
     945013475 
    chicken
    (Gallus gallus)
    Aves MYCBPAP1 MYCBP associated protein 56.18(n)
    48.15(a)
      422101  XM_420104.4  XP_420104.4 
    lizard
    (Anolis carolinensis)
    Reptilia MYCBPAP6
    MYCBP associated protein
    42(a)
    1 ↔ 1
    2(116376572-116411453)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mycbpap1 MYCBP associated protein 54.73(n)
    45.25(a)
      100497598  XM_002939578.2  XP_002939624.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1018825721 MYCBP-associated protein-like 51.49(n)
    38.71(a)
      101882572  XM_005160195.1  XP_005160252.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MYCBPAP gene
    3 SIMAP similar genes for MYCBPAP using alignment to 9 protein entries:     MYBPP_HUMAN (see all proteins):
    DKFZp686N2136    ADCY7    GLT8D2

    MYCBPAP 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 MYCBPAP (see all 731)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs80661981,2
    C,F--48583879(+) tctccA/Gtttgt 1 -- us2k19Minor allele frequency- G:0.45NA WA CSA EA 368
    rs1907181881,2
    --48583973(+) GGCACC/TCTGTT 1 -- us2k10--------
    rs1483204221,2
    --48584008(+) CCAGGC/TGAGGT 1 -- us2k10--------
    rs1154334981,2
    C,F--48584054(+) AAGGCA/C/GGGAGG 1 -- us2k11WA 118
    rs1414360281,2
    --48584080(+) GAGTTC/TAAGAC 1 -- us2k10--------
    rs800132611,2
    C--48584180(+) CGGAAA/GGCTAA 1 -- us2k10--------
    rs1157444661,2
    F--48584263(+) GGGCAA/GCAGAG 1 -- us2k11Minor allele frequency- G:0.02WA 118
    rs1924038231,2
    --48584276(+) AGATAC/GTCGCT 1 -- us2k10--------
    rs2004208341,2
    --48584293(+) AAGAA-/ATAC  
            
    ATACA
    1 -- us2k10--------
    rs1846656691,2
    C--48584411(+) GTTGCC/TCAGGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MYCBPAP (48585745 - 48608862 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for MYCBPAP:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv2082CNV Insertion18451855
    dgv3230n71CNV Loss21882294
    dgv3229n71CNV Loss21882294
    nsv833477CNV Loss17160897
    nsv111976CNV Loss16902084
    dgv3228n71CNV Gain21882294
    nsv908600CNV Gain21882294

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

    (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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    OMIM gene information: 609835    OMIM disorders: --

    1 disease for MYCBPAP:    About MalaCards
    choroiditis


    MYCBPAP for disorders           About GeneDecksing

    Genetic Association Database (GAD): MYCBPAP
    Human Genome Epidemiology (HuGE) Navigator: MYCBPAP (1 document)

    Export disorders for MYCBPAP 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 MYCBPAP gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with MYCBPAP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. AMAP-1, a novel testis-specific AMY-1-binding protein, is differentially expressed during the course of spermatogenesis. (PubMed id 12151104)1, 2, 3, 9 Yukitake H.... Ariga H. (Biochim. Biophys. Acta 2002)
    2. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)
    3. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (PubMed id 22589738)1 Fox C.S....Borecki I.B. (PLoS Genet. 2012)
    4. Single-nucleotide polymorphisms, acute rejection, and severity of tubulitis in kidney transplantation, accounting for center-to-center variation. (PubMed id 21085059)4 Israni A....Oetting W.S. (Transplantation 2010)
    5. The SH3 domain of postsynaptic density 95 mediates inflammatory pain through phosphatidylinositol-3-kinase recruitment. (PubMed id 20467438)1 Arbuckle M.I....Grant S.G. (EMBO Rep. 2010)
    6. IRES-mediated translational control of AMAP1 expression during differentiation of monocyte U937 cells. (PubMed id 18843202)1 Miyata M....Sabe H. (Cell Cycle 2008)
    7. Large-scale mapping of human protein-protein interactions by mass spectrometry. (PubMed id 17353931)1 Ewing R.M....Figeys D. (Mol. Syst. Biol. 2007)
    8. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (Nature 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. (Genome Res. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84073 HGNC: 19677 AceView: MYCBPAP Ensembl:ENSG00000136449 euGenes: HUgn84073
    ECgene: MYCBPAP H-InvDB: MYCBPAP

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for MYCBPAP 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 MYCBPAP gene:
    Search GeneIP for patents involving MYCBPAP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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