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    RENBP renin binding protein [ Homo sapiens (human) ]

    Gene ID: 5973, updated on 7-Apr-2024

    Summary

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    Official Symbol
    RENBPprovided by HGNC
    Official Full Name
    renin binding proteinprovided by HGNC
    Primary source
    HGNC:HGNC:9959
    See related
    Ensembl:ENSG00000102032 MIM:312420; AllianceGenome:HGNC:9959
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RBP; RNBP
    Summary
    The gene product inhibits renin activity by forming a dimer with renin, a complex known as high molecular weight renin. The encoded protein contains a leucine zipper domain, which is essential for its dimerization with renin. The gene product can catalyze the interconversion of N-acetylglucosamine to N-acetylmannosamine, indicating that it is a GlcNAc 2-epimerase. Transcript variants utilizing alternative promoters have been described in the literature. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in kidney (RPKM 29.7), spleen (RPKM 23.5) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    Xq28
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (153935269..153944643, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152208986..152218361, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153200722..153210095, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153174367-153175060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153175061-153175753 Neighboring gene Rho GTPase activating protein 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153186395-153186896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153188877-153189377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21073 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21074 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153200750-153201255 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153201256-153201760 Neighboring gene N-alpha-acetyltransferase 10, NatA catalytic subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153204898-153205662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30043 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153210247-153211010 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153213176-153213715 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30044 Neighboring gene host cell factor C1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153231131-153231789 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153231790-153232449 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:153234675-153234853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30045 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153235869-153236718 Neighboring gene HCFC1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21077 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21078 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21079 Neighboring gene transmembrane protein 187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30047 Neighboring gene microRNA 3202-1 Neighboring gene microRNA 3202-2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Association of renin binding protein (RnBP) gene polymorphisms with essential hypertension in the Hani minority of southwestern China. Dong Y, et al. J Genet Genomics, 2013 Aug 20. PMID 23969252
    2. GlcNAc 2-epimerase can serve a catabolic role in sialic acid metabolism. Luchansky SJ, et al. J Biol Chem, 2003 Mar 7. PMID 12499362
    3. Identification of cysteine-380 as the essential residue for the human N-acetyl-D-glucosamine 2-epimerase (renin binding protein). Takahashi S, et al. J Biochem, 1999 Oct. PMID 10502668
    4. Human renin-binding protein is the enzyme N-acetyl-D-glucosamine 2-epimerase. Takahashi S, et al. J Biochem, 1999 Feb. PMID 9990133
    5. The human renin-binding protein gene (RENBP) maps in Xq28. van den Ouweland AM, et al. Genomics, 1994 May 1. PMID 8088804

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. rs2269372 in RENBP was associated with risk of schizophrenia in a Han Chinese population.
      Title: Common variants on Xq28 conferring risk of schizophrenia in Han Chinese.
    2. several SNPs and haplotypes of the RnBP gene are associated with either increased or decreased risk of developing essential hypertension.
      Title: Association of renin binding protein (RnBP) gene polymorphisms with essential hypertension in the Hani minority of southwestern China.
    3. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Genetic variants in the renin-angiotensin-aldosterone system and salt sensitivity of blood pressure.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    6. determination of catabolic role in sialic acid metabolism
      Title: GlcNAc 2-epimerase can serve a catabolic role in sialic acid metabolism.
    7. domain structure of RBP
      Title: Identification of a domain conferring nucleotide binding to the N-acetyl-d-glucosamine 2-epimerase (Renin binding protein).
    8. gene and protein expression were selectively activated in left ventricular myocytes from end-stage failing human hearts
      Title: Selective activation of N-acyl-D-glucosamine 2-epimerase expression in failing human heart ventricular myocytes.
    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
    Common variants on Xq28 conferring risk of schizophrenia in Han Chinese.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N-acylglucosamine 2-epimerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables N-acylglucosamine 2-epimerase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables N-acylglucosamine 2-epimerase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables N-acylglucosamine 2-epimerase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables endopeptidase inhibitor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables peptidase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables peptidase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in N-acetylglucosamine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in N-acetylmannosamine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in N-acetylneuraminate catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in N-acetylneuraminate catabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of blood pressure TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    N-acylglucosamine 2-epimerase
    Names
    AGE
    GlcNAc 2-epimerase
    N-acetyl-D-glucosamine 2-epimerase
    NP_002901.2
    XP_016885187.1
    XP_054183446.1

    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.

    Genomic

    1. NG_012522.2 RefSeqGene

      Range
      5000..14374
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002910.6 → NP_002901.2  N-acylglucosamine 2-epimerase

      See identical proteins and their annotated locations for NP_002901.2

      Status: REVIEWED

      Source sequence(s)
      AK298125, BC015558, D10232
      Consensus CDS
      CCDS14738.2
      UniProtKB/Swiss-Prot
      B4DNZ3, P51606, Q96BI6
      UniProtKB/TrEMBL
      A6NKZ2
      Related
      ENSP00000377303.3, ENST00000393700.8
      Conserved Domains (1) summary
      cd00249
      Location:14 → 407
      AGE; AGE domain; N-acyl-D-glucosamine 2-epimerase domain; Responsible for intermediate epimerization during biosynthesis of N-acetylneuraminic acid. Catalytic mechanism is believed to be via nucleotide elimination and readdition and is ATP modulated. AGE is ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      153935269..153944643 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029698.2 → XP_016885187.1  N-acylglucosamine 2-epimerase isoform X1

      UniProtKB/TrEMBL
      A6NKZ2
      Conserved Domains (1) summary
      cd00249
      Location:4 → 397
      AGE; AGE domain; N-acyl-D-glucosamine 2-epimerase domain; Responsible for intermediate epimerization during biosynthesis of N-acetylneuraminic acid. Catalytic mechanism is believed to be via nucleotide elimination and readdition and is ATP modulated. AGE is ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      152208986..152218361 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327471.1 → XP_054183446.1  N-acylglucosamine 2-epimerase isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P51606.4 GenPept UniProtKB/Swiss-Prot:P51606

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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