KL klotho [Homo sapiens (human)] - Gene

Summary

Official Symbol: KLprovided by HGNC
Official Full Name: klothoprovided by HGNC
Primary source: HGNC:HGNC:6344
See related: Ensembl:ENSG00000133116 MIM:604824; AllianceGenome:HGNC:6344
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: KLA; HFTC3
Summary: This gene encodes a type-I membrane protein that is related to beta-glucosidases. Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF. Also, mutations within this protein have been associated with ageing and bone loss. [provided by RefSeq, Jul 2008]
Expression: Biased expression in kidney (RPKM 80.6), placenta (RPKM 14.7) and 1 other tissue See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 13q13.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (33016243..33066143)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (32233557..32283464)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (33590561..33640280)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ADAM10 as a major activator of reactive oxygen species production and klotho shedding in podocytes under diabetic conditions.
Title: ADAM10 as a major activator of reactive oxygen species production and klotho shedding in podocytes under diabetic conditions.
alpha-Klotho levels in girls with central precocious puberty: potential as a diagnostic and monitoring marker.
Title: α-Klotho levels in girls with central precocious puberty: potential as a diagnostic and monitoring marker.
Relationships of serum FGF23 and alpha-klotho with atherosclerosis in patients with type 2 diabetes mellitus.
Title: Relationships of serum FGF23 and α-klotho with atherosclerosis in patients with type 2 diabetes mellitus.
Revisiting the mechanisms linking blood glucose to cognitive impairment: new evidence for the potential important role of klotho.
Title: Revisiting the mechanisms linking blood glucose to cognitive impairment: new evidence for the potential important role of klotho.
Serum klotho as a novel biomarker for metabolic syndrome: findings from a large national cohort.
Title: Serum klotho as a novel biomarker for metabolic syndrome: findings from a large national cohort.
Role of klotho and fibroblast growth factor 23 in arterial calcification, thickness, and stiffness: a meta-analysis of observational studies.
Title: Role of klotho and fibroblast growth factor 23 in arterial calcification, thickness, and stiffness: a meta-analysis of observational studies.
The relationship between klotho, testosterone, and sexual health parameters among US adult men.
Title: The relationship between klotho, testosterone, and sexual health parameters among US adult men.
Serum alpha-Klotho and fibroblast growth factor 23 levels are not associated with non-proliferative diabetic retinopathy in type 1 diabetes mellitus.
Title: Serum α-Klotho and fibroblast growth factor 23 levels are not associated with non-proliferative diabetic retinopathy in type 1 diabetes mellitus.
The optimal cut-off values of Klotho for predicting all-cause and cardiovascular mortality among chronic kidney disease: results from NHANES.
Title: The optimal cut-off values of Klotho for predicting all-cause and cardiovascular mortality among chronic kidney disease: results from NHANES.
Soluble Klotho, a Potential Biomarker of Chronic Kidney Disease-Mineral Bone Disorders Involved in Healthy Ageing: Lights and Shadows.
Title: Soluble Klotho, a Potential Biomarker of Chronic Kidney Disease-Mineral Bone Disorders Involved in Healthy Ageing: Lights and Shadows.

Submit: New GeneRIF Correction See all GeneRIFs (482)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Tumoral calcinosis, hyperphosphatemic, familial, 3 MedGen: C4693864 OMIM: 617994 GeneReviews: Not available	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

G31530 (e-PCR)
- UniSTS:59404

NoName (e-PCR)
- UniSTS:484146

SHGC-83563 (e-PCR)
- UniSTS:101765

SHGC-106169 (e-PCR)
- UniSTS:182666

SHGC-170589 (e-PCR)
- UniSTS:182745

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables beta-glucosidase activity	TAS Traceable Author Statement more info	PubMed
enables beta-glucuronidase activity	IEA Inferred from Electronic Annotation more info
enables fibroblast growth factor binding	IBA Inferred from Biological aspect of Ancestor more info
enables fibroblast growth factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables fibroblast growth factor receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables hormone activity	IEA Inferred from Electronic Annotation more info
enables vitamin D binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in calcium ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in determination of adult lifespan	IEA Inferred from Electronic Annotation more info
involved_in energy reserve metabolic process	IEA Inferred from Electronic Annotation more info
involved_in fibroblast growth factor receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of systemic arterial blood pressure	IEA Inferred from Electronic Annotation more info
involved_in norepinephrine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to activity	IEA Inferred from Electronic Annotation more info
involved_in response to angiotensin	IEA Inferred from Electronic Annotation more info
involved_in response to vitamin D	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

Go to the top of the page Help

Preferred Names: klotho

Names: alpha-klotho

NP_004786.2

EC 3.2.1.31

XP_006719958.1

EC 3.2.1.31

XP_047286731.1

EC 3.2.1.31

XP_047286732.1

EC 3.2.1.31

XP_054231165.1

EC 3.2.1.31

XP_054231166.1

EC 3.2.1.31

XP_054231167.1

EC 3.2.1.31

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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

NG_011485.2 RefSeqGene

Range

5182..54902

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004795.4 → NP_004786.2 klotho precursor

See identical proteins and their annotated locations for NP_004786.2

Status: REVIEWED

Source sequence(s)

AA890465, AB005142, AL161898

Consensus CDS

CCDS9347.1

UniProtKB/Swiss-Prot

Q5VZ95, Q96KV5, Q96KW5, Q9UEF7, Q9UEI9, Q9Y4F0

Related

ENSP00000369442.3, ENST00000380099.4

Conserved Domains (1) summary

cl23725
Location:58 → 506

Glyco_hydro_1; Glycosyl hydrolase family 1

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

NC_000013.11 Reference GRCh38.p14 Primary Assembly

Range

33016243..33066143

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006719895.3 → XP_006719958.1 klotho isoform X1

Conserved Domains (1) summary

cl23725
Location:210 → 646

Glyco_hydro_1; Glycosyl hydrolase family 1
XM_047430776.1 → XP_047286732.1 klotho isoform X3
XM_047430775.1 → XP_047286731.1 klotho isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060937.1 Alternate T2T-CHM13v2.0

Range

32233557..32283464

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054375190.1 → XP_054231165.1 klotho isoform X1
XM_054375192.1 → XP_054231167.1 klotho isoform X3
XM_054375191.1 → XP_054231166.1 klotho isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_153683.2: Suppressed sequence

Description

NM_153683.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.