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 va... See more...

Aliases for RENBP Gene

Aliases for RENBP Gene

  • Renin Binding Protein 2 3 5
  • N-Acetyl-D-Glucosamine 2-Epimerase 2 3 4
  • N-Acylglucosamine 2-Epimerase 2 3 4
  • GlcNAc 2-Epimerase 2 3 4
  • Renin-Binding Protein 2 4
  • EC 5.1.3.8 4 51
  • RNBP 2 3
  • RBP 2 3
  • AGE 3 4
  • RENBP 5
  • RnBP 4

External Ids for RENBP Gene

Previous GeneCards Identifiers for RENBP Gene

  • GC0XM147338
  • GC0XM149655
  • GC0XM150786
  • GC0XM151668
  • GC0XM152721
  • GC0XM152853
  • GC0XM153200
  • GC0XM141853

Summaries for RENBP Gene

Entrez Gene Summary for RENBP Gene

  • 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]

GeneCards Summary for RENBP Gene

RENBP (Renin Binding Protein) is a Protein Coding gene. Diseases associated with RENBP include Colorblindness, Partial, Protan Series and Red-Green Color Blindness. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and enzyme inhibitor activity.

UniProtKB/Swiss-Prot Summary for RENBP Gene

  • Catalyzes the interconversion of N-acetylglucosamine to N-acetylmannosamine. Binds to renin forming a protein complex called high molecular weight (HMW) renin and inhibits renin activity. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway: although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded.

Gene Wiki entry for RENBP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RENBP Gene

Genomics for RENBP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RENBP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ153941 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 250.7 +1.1 1086 5.2 MNT BHLHE40 VEZF1 SAP130 ZNF341 TEAD3 ZNF146 ZNF316 PRDM10 SOX5 RENBP lnc-HCFC1-3 TMEM187 SNORA70 HCFC1 SNORA56 PLXNA3 DKC1 FAM3A RF00017-8806
GH0XJ153884 Promoter/Enhancer 1.6 EPDnew FANTOM5 Ensembl ENCODE 18.7 +58.7 58680 3.2 CTCF ZIC2 MAX VEZF1 KLF7 RAD21 KLF9 SMC3 MAZ ZBTB48 L1CAM RENBP TMEM187 PDZD4 IDH3G SSR4 SRPK3 PLXNB3 NAA10 ARHGAP4
GH0XJ153900 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE 8.2 +41.8 41781 5 IKZF1 BHLHE40 ZIC2 CEBPB VEZF1 ZNF341 GABPA TAL1 ZNF148 KLF9 AVPR2 HCFC1 SNORA70 DKC1 PLXNA3 TMEM187 SNORA56 EMD SLC10A3 PLXNB3
GH0XJ154135 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 4.5 -191.9 -191936 2.1 ZBTB10 CTCF ZBTB7B NONO SIN3A REST NFATC3 VEZF1 SMC3 RAD21 MECP2 lnc-MECP2-2 SNORA56 HCFC1 DKC1 IRAK1 TMEM187 PLXNA3 RENBP ARHGAP4
GH0XJ154121 Enhancer 1.3 FANTOM5 Ensembl ENCODE 4.7 -179.4 -179358 5.5 FEZF1 MNT IKZF1 HES1 MBD2 ZNF217 BHLHE40 ELF1 NONO CEBPB TMEM187 RENBP MECP2 ARHGAP4 IKBKG piR-53177-056 lnc-MECP2-2 IRAK1 MK280607-190
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RENBP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RENBP

Top Transcription factor binding sites by QIAGEN in the RENBP gene promoter:
  • AhR
  • Arnt
  • CUTL1
  • Elk-1
  • ITF-2
  • Sp1
  • SRY
  • Tal-1beta

Genomic Locations for RENBP Gene

Latest Assembly
chrX:153,935,263-153,944,687
(GRCh38/hg38)
Size:
9,425 bases
Orientation:
Minus strand

Previous Assembly
chrX:153,200,722-153,210,095
(GRCh37/hg19 by Entrez Gene)
Size:
9,374 bases
Orientation:
Minus strand

chrX:153,200,716-153,210,232
(GRCh37/hg19 by Ensembl)
Size:
9,517 bases
Orientation:
Minus strand

Genomic View for RENBP Gene

Genes around RENBP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RENBP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RENBP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RENBP Gene

Proteins for RENBP Gene

  • Protein details for RENBP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51606-RENBP_HUMAN
    Recommended name:
    N-acylglucosamine 2-epimerase
    Protein Accession:
    P51606
    Secondary Accessions:
    • B4DNZ3
    • Q96BI6

    Protein attributes for RENBP Gene

    Size:
    427 amino acids
    Molecular mass:
    48831 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAH15558.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA01082.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA01082.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for RENBP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RENBP Gene

Selected DME Specific Peptides for RENBP Gene

P51606:
  • EAMIAFLMGY
  • MAVPMMLL
  • YAELGDWC

Post-translational modifications for RENBP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RENBP Gene

Domains & Families for RENBP Gene

Gene Families for RENBP Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for RENBP Gene

InterPro:
Blocks:
  • N-acylglucosamine 2-epimerase
ProtoNet:

Suggested Antigen Peptide Sequences for RENBP Gene

GenScript: Design optimal peptide antigens:
  • Renin-binding protein (RENBP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P51606

UniProtKB/Swiss-Prot:

RENBP_HUMAN :
  • Belongs to the N-acylglucosamine 2-epimerase family.
Family:
  • Belongs to the N-acylglucosamine 2-epimerase family.
genes like me logo Genes that share domains with RENBP: view

Function for RENBP Gene

Molecular function for RENBP Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the interconversion of N-acetylglucosamine to N-acetylmannosamine. Binds to renin forming a protein complex called high molecular weight (HMW) renin and inhibits renin activity. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway: although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an N-acyl-D-glucosamine = an N-acyl-D-mannosamine; Xref=Rhea:RHEA:19033, ChEBI:CHEBI:16062, ChEBI:CHEBI:17274; EC=5.1.3.8;.
GENATLAS Biochemistry:
renin binding protein,involved in the regulation of the renin-angiotensin system

Enzyme Numbers (IUBMB) for RENBP Gene

Phenotypes From GWAS Catalog for RENBP Gene

Gene Ontology (GO) - Molecular Function for RENBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004857 enzyme inhibitor activity IEA --
GO:0004866 endopeptidase inhibitor activity TAS 9285790
GO:0005515 protein binding IPI 32296183
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with RENBP: view
genes like me logo Genes that share phenotypes with RENBP: view

Animal Models for RENBP Gene

MGI Knock Outs for RENBP:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RENBP

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for RENBP Gene

Localization for RENBP Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RENBP gene
Compartment Confidence
cytosol 5
extracellular 4
cytoskeleton 2
plasma membrane 1
mitochondrion 1
nucleus 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for RENBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with RENBP: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for RENBP Gene

Pathways & Interactions for RENBP Gene

genes like me logo Genes that share pathways with RENBP: view

UniProtKB/Swiss-Prot P51606-RENBP_HUMAN

  • Pathway: Amino-sugar metabolism; N-acetylneuraminate degradation.

Gene Ontology (GO) - Biological Process for RENBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006044 N-acetylglucosamine metabolic process IEA,IBA 21873635
GO:0006048 UDP-N-acetylglucosamine biosynthetic process TAS --
GO:0006051 N-acetylmannosamine metabolic process IBA 21873635
GO:0008217 regulation of blood pressure TAS 9285790
genes like me logo Genes that share ontologies with RENBP: view

No data available for SIGNOR curated interactions for RENBP Gene

Drugs & Compounds for RENBP Gene

(8) Drugs for RENBP Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
N-Acetyl-D-glucosamine Approved, Investigational Nutra Target 0
ATP Investigational Nutra 0
N-acetylmannosamine Investigational Pharma 0

(1) Additional Compounds for RENBP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RENBP: view

Transcripts for RENBP Gene

mRNA/cDNA for RENBP Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RENBP

Alternative Splicing Database (ASD) splice patterns (SP) for RENBP Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1:
SP2: - -
SP3:

Relevant External Links for RENBP Gene

GeneLoc Exon Structure for
RENBP

Expression for RENBP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RENBP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RENBP Gene

This gene is overexpressed in Spleen (x5.9) and Whole Blood (x5.3).

Protein differential expression in normal tissues from HIPED for RENBP Gene

This gene is overexpressed in Serum (33.8), Peripheral blood mononuclear cells (8.8), and Spleen (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RENBP Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RENBP

SOURCE GeneReport for Unigene cluster for RENBP Gene:

Hs.158331

Evidence on tissue expression from TISSUES for RENBP Gene

  • Lung(4.3)
  • Skin(4.3)
  • Kidney(3.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RENBP Gene

Germ Layers:
  • endoderm
Systems:
  • endocrine
genes like me logo Genes that share expression patterns with RENBP: view

Primer products for research

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for RENBP Gene

Orthologs for RENBP Gene

This gene was present in the common ancestor of chordates.

Orthologs for RENBP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RENBP 30 31
  • 99.69 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RENBP 30 31
  • 87.48 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RENBP 30 31
  • 86.33 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Renbp 30
  • 84.75 (n)
Mouse
(Mus musculus)
Mammalia Renbp 30 17 31
  • 84.63 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RENBP 31
  • 74 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RENBP 31
  • 69 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RENBP 31
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia renbp 30
  • 65.99 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23759 30
Zebrafish
(Danio rerio)
Actinopterygii renbp 30 31
  • 63.87 (n)
OneToOne
Species where no ortholog for RENBP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for RENBP Gene

ENSEMBL:
Gene Tree for RENBP (if available)
TreeFam:
Gene Tree for RENBP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RENBP: view image

Paralogs for RENBP Gene

(4) SIMAP similar genes for RENBP Gene using alignment to 6 proteins:

  • RENBP_HUMAN
  • A6NKZ2_HUMAN
  • F8WE83_HUMAN
  • H7C1A7_HUMAN
  • H7C2G7_HUMAN
  • H7C317_HUMAN

Pseudogenes.org Pseudogenes for RENBP Gene

genes like me logo Genes that share paralogs with RENBP: view

No data available for Paralogs for RENBP Gene

Variants for RENBP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RENBP Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
916147 Likely Benign: not provided 153,943,704(-) G/A
NM_002910.6(RENBP):c.304C>T (p.Leu102=)
SYNONYMOUS
rs142718878 Benign: not provided 153,942,913(-) G/A
NM_002910.6(RENBP):c.629C>T (p.Ala210Val)
MISSENSE
rs183725640 Benign: not provided 153,935,586(-) C/A
NM_002910.6(RENBP):c.1078-10G>T
INTRON
rs371634111 Benign: not provided 153,935,408(-) C/T
NM_002910.6(RENBP):c.1166-4G>A
INTRON
rs2229241 - p.Gln169Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RENBP Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RENBP Gene

Variant ID Type Subtype PubMed ID
esv33199 CNV gain+loss 17666407
nsv1144325 CNV deletion 24896259
nsv469867 CNV loss 16826518

Variation tolerance for RENBP Gene

Residual Variation Intolerance Score: 80.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.73; 66.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RENBP Gene

Human Gene Mutation Database (HGMD)
RENBP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RENBP

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RENBP Gene

Disorders for RENBP Gene

MalaCards: The human disease database

(4) MalaCards diseases for RENBP Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search RENBP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RENBP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with RENBP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RENBP Gene

Publications for RENBP Gene

  1. Angiotensin converting enzyme DD genotype is associated with hypertensive crisis. (PMID: 12394950) Sunder-Plassmann G … Födinger M (Critical care medicine 2002) 3 23 41
  2. Human renin-binding protein is the enzyme N-acetyl-D-glucosamine 2-epimerase. (PMID: 9990133) Takahashi S … Kobayashi M (Journal of biochemistry 1999) 3 4 23
  3. Human renin binding protein: complete genomic sequence and association of an intronic T/C polymorphism with the prorenin level in males. (PMID: 9285790) Knöll A … Rosenthal A (Human molecular genetics 1997) 3 23 41
  4. The human gene for renin-binding protein. (PMID: 1618798) Takahashi S … Miyake Y (The Journal of biological chemistry 1992) 2 3 23
  5. Genetic and molecular properties of human and rat renin-binding proteins with reference to the function of the leucine zipper motif. (PMID: 1723410) Inoue H … Miyake Y (Journal of biochemistry 1991) 3 4 23

Products for RENBP Gene

Sources for RENBP Gene