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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]
KL (Klotho) is a Protein Coding gene. Diseases associated with KL include Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 and Tumoral Calcinosis, Hyperphosphatemic, Familial, 1. Among its related pathways are RET signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and hydrolase activity, hydrolyzing O-glycosyl compounds. An important paralog of this gene is KLB.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004553 | hydrolase activity, hydrolyzing O-glycosyl compounds | IEA | -- |
GO:0004566 | beta-glucuronidase activity | IEA | -- |
GO:0005104 | fibroblast growth factor receptor binding | IEA,IBA | 21873635 |
GO:0005179 | hormone activity | IEA | -- |
GO:0005499 | vitamin D binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IEA | -- |
GO:0005783 | endoplasmic reticulum | IBA | 21873635 |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS | 9464267 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
.92
|
2 | GAB1 signalosome |
.89
|
|
3 | Downstream signaling of activated FGFR2 | ||
4 | Negative regulation of FGFR3 signaling | ||
5 | Developmental Biology |
.51
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000165 | MAPK cascade | TAS | -- |
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0006112 | energy reserve metabolic process | IEA | -- |
GO:0007568 | aging | IMP | 11792841 |
GO:0008152 | metabolic process | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
1-Hexanol |
|
111-27-3 |
|
|||
1-Pentanol |
|
71-41-0 |
|
|||
D-Glucuronic acid |
|
6556-12-3 |
|
|||
Isobutanol |
|
78-83-1 |
|
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||
SP2: | |||||||||||||||||||
SP3: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KL 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KL 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KL 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Kl 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Kl 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | KL 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | KL 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KL 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | KL 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kl 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | kl 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG9701 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | klo-2 31 |
|
ManyToMany | |
klo-1 31 |
|
ManyToMany | |||
C50F7.10 32 |
|
|
|||
E02H9.5 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 13 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
710027 | Benign: Hyperphosphatemic familial tumoral calcinosis 3; not provided | 33,017,047(+) | G/T | MISSENSE_VARIANT | |
727045 | Likely Benign: not provided | 33,016,809(+) | C/T | SYNONYMOUS_VARIANT | |
802959 | Benign: Hyperphosphatemic familial tumoral calcinosis 1 | 33,063,776(+) | C/CA | INTRON_VARIANT | |
807004 | Uncertain Significance: not provided | 33,061,136(+) | C/T | MISSENSE_VARIANT | |
880587 | Uncertain Significance: Hyperphosphatemic familial tumoral calcinosis 3 | 33,064,652(+) | A/T | THREE_PRIME_UTR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1053839 | CNV | gain | 25217958 |
nsv1071091 | CNV | deletion | 25765185 |
Disorder | Aliases | PubMed IDs |
---|---|---|
tumoral calcinosis, hyperphosphatemic, familial, 3 |
|
|
tumoral calcinosis, hyperphosphatemic, familial, 1 |
|
|
calcinosis |
|
|
familial tumoral calcinosis |
|
|
skin atrophy |
|
|