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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
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Genomic context

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See RENBP in Genome Data Viewer
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

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. 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

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