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

MYCBPAP Gene

protein-coding   GIFtS: 46
GCID: GC17P048585

MYCBP Associated Protein

  Search for MYCBPAP
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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

GeneCards Summary for MYCBPAP Gene: 
MYCBPAP (MYCBP associated protein) is a protein-coding gene. GO annotations related to this gene include protein binding.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for MYCBPAP
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MYBPP_HUMAN, Q8TBZ2 (See protein sequence)
Recommended Name: MYCBP-associated protein  
Size: 947 amino acids; 108153 Da
Subunit: Interacts with MYCBP
Subcellular location: Cytoplasm. Membrane (By similarity). Note=Colocalizes with MYCBP in the cytoplasm
Secondary accessions: A6NHJ3 Q8TDV8 Q9H0K0

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

Explore proteomics data for MYCBPAP at MOPED 

MYCBPAP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

MYCBPAP Protein Expression

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

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Cloud-Clone Corp. Proteins for MYCBPAP 

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005737cytoplasm IDA12151104
GO:0016020membrane ----
GO:0030128clathrin coat of endocytic vesicle IEA--

MYCBPAP for ontologies           About GeneDecksing



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

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,
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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

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 (GO ID links to tree view):    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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(Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
About This Section



Interactions:

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

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

5/6 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): 5 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006897endocytosis IEA--
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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 MYCBPAP (MYBPP)

Search CenterWatch for drugs/clinical trials and news about 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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 

24/58 AceView cDNA sequences (see all 58):

AL042715 BM559592 AI383457 AL079750 BE549952 AI142370 AW297114 BX492666 
AB083068 AI656008 BI826155 NM_032133 AI249809 BX430897 BF980309 BI462767 
AL136765 AI824911 BP358108 BG037198 BG718526 BF980036 BE551617 BF222708 

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™, 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

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 
 5/3 selected tissues (see all 3) fully expand
 
 Brain (Nervous System)    fully expand to see all 2 entries
         Choroid Plexus
         brain/hindbrain/4th ventricle   
 
 Testis (Reproductive System)
         sperm   
 
 Heart (Cardiovascular System)
         Atrioventricular Canal Cells Atrioventricular Canal

See MYCBPAP Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MYCBPAP

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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for MYCBPAP gene from 4/11 species (see all 11)    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 56.6(n)
48.43(a)
  422101  XM_420104.3  XP_420104.3 
lizard
(Anolis carolinensis)
Reptilia MYCBPAP6
MYCBP associated protein
42(a)
1 ↔ 1
2(116376572-116411453)
zebrafish
(Danio rerio)
Actinopterygii mycbpap1 mycbp associated protein 49.05(n)
37.01(a)
  100006494  XM_001345182.3  XP_001345218.3 


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)
About This Section
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) 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

10/731 SNPs in MYCBPAP are shown (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

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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.)
About This Section

MYCBPAP for disorders           About MalaCards
OMIM gene information: 609835    OMIM disorders: --


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)
About This Section

PubMed articles for MYCBPAP gene, integrated from 9 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. (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. (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. (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. (2010)
  5. The SH3 domain of postsynaptic density 95 mediates inf lammatory pain through phosphatidylinositol-3-kinase recruitment. (PubMed id 20467438)1 Arbuckle M.I....Grant S.G. (2010)
  6. IRES-mediated translational control of AMAP1 expression during differentiation of monocyte U937 cells. (PubMed id 18843202)1 Miyata M....Sabe H. (2008)
  7. Large-scale mapping of human protein-protein interactions by mass spectrometry. (PubMed id 17353931)1 Ewing R.M.... Figeys D. (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. (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. (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. (2002)

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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, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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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

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