RNLS renalase, FAD dependent amine oxidase [Homo sapiens (human)] - Gene

Summary

Official Symbol: RNLSprovided by HGNC
Official Full Name: renalase, FAD dependent amine oxidaseprovided by HGNC
Primary source: HGNC:HGNC:25641
See related: Ensembl:ENSG00000184719 MIM:609360; AllianceGenome:HGNC:25641
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: C10orf59; RENALASE
Summary: Enables several functions, including NADH binding activity; epinephrine binding activity; and monoamine oxidase activity. Involved in negative regulation of blood pressure and negative regulation of heart rate. Located in extracellular region. Implicated in essential hypertension and hypertension. Biomarker of end stage renal disease. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: 10q23.31

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (88171523..88583318, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (89050656..89467392, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (90033619..90343075, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Renalase rs2296545 variant improve hypertension susceptibility by modifying binding affinity to catecholamines in obstructive sleep apnea.
Title: Renalase rs2296545 variant improve hypertension susceptibility by modifying binding affinity to catecholamines in obstructive sleep apnea.
Coexistence of Cardiovascular Risk Factors and Blood Renalase Concentration.
Title: Coexistence of Cardiovascular Risk Factors and Blood Renalase Concentration.
[The association of renalase single-nucleotide polymorphisms rs2576178 and rs10887800 with hypertension in patients with obstructive sleep apnea].
Title: [The association of renalase single-nucleotide polymorphisms rs2576178 and rs10887800 with hypertension in patients with obstructive sleep apnea].
The Multi-Faceted Nature of Renalase for Mitochondrial Dysfunction Improvement in Cardiac Disease.
Title: The Multi-Faceted Nature of Renalase for Mitochondrial Dysfunction Improvement in Cardiac Disease.
Role of serum renalase levels in predicting the presence of metabolic syndrome in patients with polycystic ovary syndrome.
Title: Role of serum renalase levels in predicting the presence of metabolic syndrome in patients with polycystic ovary syndrome.
Plasma renalase levels are associated with the development of acute pancreatitis.
Title: Plasma renalase levels are associated with the development of acute pancreatitis.
Renalase and its receptor, PMCA4b, are expressed in the placenta throughout the human gestation.
Title: Renalase and its receptor, PMCA4b, are expressed in the placenta throughout the human gestation.
Evaluation of the association of the Renalase rs10887800 polymorphism with the risk of preeclampsia in Brazilian women.
Title: Evaluation of the association of the Renalase rs10887800 polymorphism with the risk of preeclampsia in Brazilian women.
The Effect of Renalase rs2576178 and rs10887800 Polymorphisms on Ischemic Stroke Susceptibility in Young Patients (<50 Years): A Case-Control Study and In Silico Analysis.
Title: The Effect of Renalase rs2576178 and rs10887800 Polymorphisms on Ischemic Stroke Susceptibility in Young Patients (<50 Years): A Case-Control Study and In Silico Analysis.
Renalase gene polymorphisms and plasma levels are associated with preeclampsia: a hospital-based study in the Chinese cohort.
Title: Renalase gene polymorphisms and plasma levels are associated with preeclampsia: a hospital-based study in the Chinese cohort.

Submit: New GeneRIF Correction See all GeneRIFs (77)

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 study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

SHGC-143261 (e-PCR)
- UniSTS:171838

RH122278 (e-PCR)
- UniSTS:137805

RH120267 (e-PCR)
- UniSTS:132723

RH68820 (e-PCR)
- UniSTS:15785

AFM280WE1 (e-PCR)
- UniSTS:50618

D10S2339 (e-PCR)
- UniSTS:37331

RH65491 (e-PCR)
- UniSTS:52192

SHGC-77962 (e-PCR)
- UniSTS:101367

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NADH binding	IDA Inferred from Direct Assay more info	PubMed
enables epinephrine binding	IDA Inferred from Direct Assay more info	PubMed
enables monoamine oxidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables oxidoreductase activity, acting on NAD(P)H	IBA Inferred from Biological aspect of Ancestor more info
enables oxidoreductase activity, acting on NAD(P)H	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 negative regulation of blood pressure	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of heart rate	IDA Inferred from Direct Assay more info	PubMed
involved_in response to catecholamine	IEA Inferred from Electronic Annotation more info
involved_in response to epinephrine	IEA Inferred from Electronic Annotation more info
involved_in response to ischemia	IEA Inferred from Electronic Annotation more info
involved_in response to salt	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in extracellular region	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: renalase

Names: MAO-C; alpha-NAD(P)H oxidase/anomerase; monoamine oxidase-C

NP_001026879.2

EC 1.6.3.5

NP_060833.1

EC 1.6.3.5

XP_005270004.1

EC 1.6.3.5

XP_005270005.1

EC 1.6.3.5

XP_005270006.1

EC 1.6.3.5

XP_011538226.1

EC 1.6.3.5

XP_011538229.1

EC 1.6.3.5

XP_016871869.1

EC 1.6.3.5

XP_016871870.1

EC 1.6.3.5

XP_016871871.1

EC 1.6.3.5

XP_016871873.1

EC 1.6.3.5

XP_016871874.1

EC 1.6.3.5

XP_047281391.1

EC 1.6.3.5

XP_047281392.1

EC 1.6.3.5

XP_054222197.1

EC 1.6.3.5

XP_054222198.1

EC 1.6.3.5

XP_054222199.1

EC 1.6.3.5

XP_054222200.1

EC 1.6.3.5

XP_054222201.1

EC 1.6.3.5

XP_054222202.1

EC 1.6.3.5

XP_054222203.1

EC 1.6.3.5

XP_054222204.1

EC 1.6.3.5

XP_054222205.1

EC 1.6.3.5

XP_054222206.1

EC 1.6.3.5

XP_054222207.1

EC 1.6.3.5

XP_054222208.1

EC 1.6.3.5

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)

NM_001031709.3 → NP_001026879.2 renalase isoform 1 precursor

See identical proteins and their annotated locations for NP_001026879.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AA854849, AL353149, BC005364, BM978857, BP332262

Consensus CDS

CCDS31239.1

UniProtKB/Swiss-Prot

Q5VYX0, Q9BS33, Q9NUP8

Related

ENSP00000332530.4, ENST00000331772.9

Conserved Domains (3) summary

COG3380
Location:1 → 342

COG3380; Predicted NAD/FAD-dependent oxidoreductase [General function prediction only]

pfam13450
Location:6 → 80

NAD_binding_8; NAD(P)-binding Rossmann-like domain

cl21454
Location:109 → 226

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
NM_018363.4 → NP_060833.1 renalase isoform 2 precursor

See identical proteins and their annotated locations for NP_060833.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.

Source sequence(s)

AK002080, AL353149, BP332262

Consensus CDS

CCDS7388.1

UniProtKB/Swiss-Prot

Q5VYX0

Related

ENSP00000361015.3, ENST00000371947.7

Conserved Domains (2) summary

pfam13450
Location:6 → 80

NAD_binding_8; NAD(P)-binding Rossmann-like domain

cl21454
Location:109 → 226

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

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

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

88171523..88583318 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017016382.3 → XP_016871871.1 renalase isoform X8

UniProtKB/TrEMBL

B4DJW3

Conserved Domains (1) summary

pfam13450
Location:6 → 40

NAD_binding_8; NAD(P)-binding Rossmann-like domain
XM_011539924.4 → XP_011538226.1 renalase isoform X1

See identical proteins and their annotated locations for XP_011538226.1

UniProtKB/Swiss-Prot

Q5VYX0

Conserved Domains (2) summary

pfam13450
Location:6 → 80

NAD_binding_8; NAD(P)-binding Rossmann-like domain

cl21454
Location:109 → 226

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
XM_017016380.3 → XP_016871869.1 renalase isoform X1

UniProtKB/Swiss-Prot

Q5VYX0

Conserved Domains (2) summary

pfam13450
Location:6 → 80

NAD_binding_8; NAD(P)-binding Rossmann-like domain

cl21454
Location:109 → 226

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
XM_017016384.3 → XP_016871873.1 renalase isoform X10
XM_005269948.4 → XP_005270005.1 renalase isoform X6

Conserved Domains (2) summary

COG3380
Location:41 → 259

COG3380; Predicted NAD/FAD-dependent oxidoreductase [General function prediction only]

pfam13450
Location:6 → 40

NAD_binding_8; NAD(P)-binding Rossmann-like domain
XM_005269947.3 → XP_005270004.1 renalase isoform X5

Conserved Domains (2) summary

pfam13450
Location:6 → 80

NAD_binding_8; NAD(P)-binding Rossmann-like domain

cl21454
Location:109 → 226

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
XM_017016385.2 → XP_016871874.1 renalase isoform X11
XM_047425436.1 → XP_047281392.1 renalase isoform X9
XM_011539927.4 → XP_011538229.1 renalase isoform X3

Conserved Domains (2) summary

pfam13450
Location:6 → 80

NAD_binding_8; NAD(P)-binding Rossmann-like domain

cl21454
Location:109 → 226

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
XM_047425435.1 → XP_047281391.1 renalase isoform X2
XM_017016381.3 → XP_016871870.1 renalase isoform X4
XM_005269949.6 → XP_005270006.1 renalase isoform X7

Conserved Domains (2) summary

pfam13450
Location:6 → 80

NAD_binding_8; NAD(P)-binding Rossmann-like domain

cl21454
Location:109 → 226

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins