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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
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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
  • 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)

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

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