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
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Genomic context

Location:: 13q13.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (33016243..33066143)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (32233557..32283464)
RS_2024_09	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

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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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Abnormal Histopathological Expression of Klotho, Ferroptosis, and Circadian Clock Regulators in Pancreatic Ductal Adenocarcinoma: Prognostic Implications and Correlation Analyses.
Title: Abnormal Histopathological Expression of Klotho, Ferroptosis, and Circadian Clock Regulators in Pancreatic Ductal Adenocarcinoma: Prognostic Implications and Correlation Analyses.
Gender-specific association between circulating serum Klotho and metabolic components in adults.
Title: Gender-specific association between circulating serum Klotho and metabolic components in adults.
Anti-Inflammatory Role of the Klotho Protein and Relevance to Aging.
Title: Anti-Inflammatory Role of the Klotho Protein and Relevance to Aging.
Apolipoproteine and KLOTHO Gene Variants Do Not Affect the Penetrance of Fragile X-Associated Tremor/Ataxia Syndrome.
Title: Apolipoproteine and KLOTHO Gene Variants Do Not Affect the Penetrance of Fragile X-Associated Tremor/Ataxia Syndrome.
The association between serum soluble alpha-Klotho and thyroid profile among adults from NHANES 2007-2012.
Title: The association between serum soluble α-Klotho and thyroid profile among adults from NHANES 2007-2012.
Association of Alpha-Klotho with regulation of Keap1/Nrf2/Interleukin-1 pathway and AMPA receptor trafficking in the brain of suicide victims.
Title: Association of Α-Klotho with regulation of Keap1/Nrf2/Interleukin-1 pathway and AMPA receptor trafficking in the brain of suicide victims.
Klotho-derived peptide 1 inhibits cellular senescence in the fibrotic kidney by restoring Klotho expression via posttranscriptional regulation.
Title: Klotho-derived peptide 1 inhibits cellular senescence in the fibrotic kidney by restoring Klotho expression via posttranscriptional regulation.
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.

Submit: New GeneRIF Correction See all GeneRIFs (489)

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

Associated conditions

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

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

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 extracellular space	TAS Traceable Author Statement more info	PubMed
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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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)

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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

NG_011485.2 RefSeqGene

Range

5182..54902

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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_2024_08

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

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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

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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.