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    MYCBPAP MYCBP associated protein [ Homo sapiens (human) ]

    Gene ID: 84073, updated on 3-Nov-2024

    Summary

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    Official Symbol
    MYCBPAPprovided by HGNC
    Official Full Name
    MYCBP associated proteinprovided by HGNC
    Primary source
    HGNC:HGNC:19677
    See related
    Ensembl:ENSG00000136449 MIM:609835; AllianceGenome:HGNC:19677
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AMAP1; AMAP-1
    Summary
    Predicted to enable clathrin binding activity and phospholipid binding activity. Involved in spermatogenesis. Located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 33.9) See more
    Orthologs
    mouse all
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    Genomic context

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    See MYCBPAP in Genome Data Viewer
    Location:
    17q21.33
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (50507778..50531501)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (51374876..51398673)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (48585800..48608862)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene acyl-CoA synthetase family member 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48545198-48546156 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48546157-48547114 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8699 Neighboring gene chondroadherin Neighboring gene ReSE screen-validated silencer GRCh37_chr17:48557048-48557434 Neighboring gene Sharpr-MPRA regulatory region 9450 Neighboring gene radical S-adenosyl methionine domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8700 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12386 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8701 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48610962-48611638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48611639-48612315 Neighboring gene uncharacterized LOC105371824 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8703 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48620417-48620917 Neighboring gene epsin 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8704 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:48626222-48626443 Neighboring gene spermatogenesis associated 20

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. AMAP-1, a novel testis-specific AMY-1-binding protein, is differentially expressed during the course of spermatogenesis. Yukitake H, et al. Biochim Biophys Acta, 2002 Aug 19. PMID 12151104
    2. AAT-1, a novel testis-specific AMY-1-binding protein, forms a quaternary complex with AMY-1, A-kinase anchor protein 84, and a regulatory subunit of cAMP-dependent protein kinase and is phosphorylated by its kinase. Yukitake H, et al. J Biol Chem, 2002 Nov 22. PMID 12223483
    3. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. Fox CS, et al. PLoS Genet, 2012. PMID 22589738, Free PMC Article
    4. A protein-protein interaction map of the TNF-induced NF-κB signal transduction pathway. Van Quickelberghe E, et al. Sci Data, 2018 Dec 18. PMID 30561431, Free PMC Article
    5. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. Wiemann S, et al. Genome Res, 2001 Mar. PMID 11230166, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. sequence analysis of AMAP-1 and identification of AMY-1 as binding protein
      Title: AMAP-1, a novel testis-specific AMY-1-binding protein, is differentially expressed during the course of spermatogenesis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp434N1415

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables clathrin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phospholipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chemical synaptic transmission ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatogenesis IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of clathrin vesicle coat IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    MYCBP-associated protein
    Names
    AMAM-1
    AMY-1-binding protein 1
    AMY1-associating protein 1
    testis secretory sperm-binding protein Li 214e

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001366294.2 → NP_001353223.1  MYCBP-associated protein isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC021491
      UniProtKB/Swiss-Prot
      A0A140VK87, A6NHJ3, B4DZQ1, Q8TBZ2, Q8TDV8, Q9H0K0
      UniProtKB/TrEMBL
      C9JXR6
      Related
      ENSP00000407145.3, ENST00000452039.7
      Conserved Domains (1) summary
      pfam14646
      Location:208 → 626
      MYCBPAP; MYCBP-associated protein family

    2. NM_032133.6 → NP_115509.5  MYCBP-associated protein isoform 1

      Status: VALIDATED

      Source sequence(s)
      AB083068, AK303041
      Consensus CDS
      CCDS32680.3
      UniProtKB/Swiss-Prot
      A0A140VK87, A6NHJ3, B4DZQ1, Q8TBZ2, Q8TDV8, Q9H0K0
      Related
      ENSP00000323184.6, ENST00000323776.11
      Conserved Domains (1) summary
      pfam14646
      Location:193 → 611
      MYCBPAP; MYCBP-associated protein family

    RNA

    1. NR_158785.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC021491

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      50507778..50531501
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436908.1 → XP_047292864.1  MYCBP-associated protein isoform X6

    2. XM_005257726.3 → XP_005257783.1  MYCBP-associated protein isoform X3

      UniProtKB/Swiss-Prot
      A0A140VK87, A6NHJ3, B4DZQ1, Q8TBZ2, Q8TDV8, Q9H0K0
      Conserved Domains (1) summary
      pfam14646
      Location:251 → 669
      MYCBPAP; MYCBP-associated protein family

    3. XM_017025205.2 → XP_016880694.1  MYCBP-associated protein isoform X1

      UniProtKB/Swiss-Prot
      A0A140VK87, A6NHJ3, B4DZQ1, Q8TBZ2, Q8TDV8, Q9H0K0

    4. XM_047436905.1 → XP_047292861.1  MYCBP-associated protein isoform X2

    5. XM_047436906.1 → XP_047292862.1  MYCBP-associated protein isoform X4

    6. XM_047436907.1 → XP_047292863.1  MYCBP-associated protein isoform X5

    7. XM_011525342.2 → XP_011523644.1  MYCBP-associated protein isoform X7

      Conserved Domains (1) summary
      pfam14646
      Location:251 → 669
      MYCBPAP; MYCBP-associated protein family

    8. XM_011525343.2 → XP_011523645.1  MYCBP-associated protein isoform X8

      Conserved Domains (1) summary
      pfam14646
      Location:251 → 478
      MYCBPAP; MYCBP-associated protein family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      51374876..51398673
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317522.1 → XP_054173497.1  MYCBP-associated protein isoform X6

    2. XM_054317519.1 → XP_054173494.1  MYCBP-associated protein isoform X3

    3. XM_054317517.1 → XP_054173492.1  MYCBP-associated protein isoform X1

    4. XM_054317518.1 → XP_054173493.1  MYCBP-associated protein isoform X2

    5. XM_054317520.1 → XP_054173495.1  MYCBP-associated protein isoform X4

    6. XM_054317521.1 → XP_054173496.1  MYCBP-associated protein isoform X5

    7. XM_054317523.1 → XP_054173498.1  MYCBP-associated protein isoform X7

    8. XM_054317524.1 → XP_054173499.1  MYCBP-associated protein isoform X8

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TBZ2.3 GenPept UniProtKB/Swiss-Prot:Q8TBZ2

    Gene LinkOut

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