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This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012]
LRSAM1 (Leucine Rich Repeat And Sterile Alpha Motif Containing 1) is a Protein Coding gene. Diseases associated with LRSAM1 include Charcot-Marie-Tooth Disease, Axonal, Type 2P and Autosomal Dominant Charcot-Marie-Tooth Disease Type 2G. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ligase activity and hormone activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004842 | ubiquitin-protein transferase activity | IDA | 15256501 |
GO:0005515 | protein binding | IPI | 15256501 |
GO:0016740 | transferase activity | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO:0061630 | ubiquitin protein ligase activity | IDA | 23245322 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IDA | 15256501 |
GO:0005829 | cytosol | IDA | -- |
GO:0016020 | membrane | IDA | 15256501 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Class I MHC mediated antigen processing and presentation | ||
2 | Innate Immune System |
.61
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000209 | protein polyubiquitination | IDA | 18077552 |
GO:0006914 | autophagy | IEA | -- |
GO:0015031 | protein transport | IEA | -- |
GO:0016567 | protein ubiquitination | IEA | -- |
GO:0030163 | protein catabolic process | IMP | 18077552 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
pyrophosphate |
|
14000-31-8 |
|
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21a | · | 21b | ^ | 22 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - |
ExUns: | 23 | ^ | 24a | · | 24b | ^ | 25a | · | 25b | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||
SP2: | - | - | - | ||||||||||||||
SP3: | - | - | |||||||||||||||
SP4: | - | - | |||||||||||||||
SP5: | - | - | |||||||||||||||
SP6: | |||||||||||||||||
SP7: | |||||||||||||||||
SP8: | |||||||||||||||||
SP9: | |||||||||||||||||
SP10: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LRSAM1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LRSAM1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LRSAM1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Lrsam1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Lrsam1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | LRSAM1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | LRSAM1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LRSAM1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | LRSAM1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | lrsam1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.19414 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | lrsam1 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005053 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG3494 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | C14F11.2 31 |
|
ManyToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
650288 | Likely Pathogenic: Charcot-Marie-Tooth disease type 2P | 127,479,448(+) |
CCAGCTCCTTCAGCAG
NM_138361.5(LRSAM1):c.847_1088+563del |
SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR | |
834369 | Uncertain Significance: Charcot-Marie-Tooth disease type 2P | 127,501,106(+) |
T/C NM_138361.5(LRSAM1):c.2009T>C (p.Val670Ala) |
MISSENSE | |
834633 | Uncertain Significance: Charcot-Marie-Tooth disease type 2P | 127,497,271(+) |
G/T NM_138361.5(LRSAM1):c.1849G>T (p.Gly617Cys) |
MISSENSE | |
835380 | Uncertain Significance: Charcot-Marie-Tooth disease type 2P | 127,501,046(+) |
C/T NM_138361.5(LRSAM1):c.1949C>T (p.Thr650Met) |
MISSENSE | |
836464 | Uncertain Significance: Charcot-Marie-Tooth disease type 2P | 127,495,418(+) |
A/G NM_138361.5(LRSAM1):c.1698A>G (p.Gln566=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1080051 | CNV | deletion | 17803354 |
esv2739052 | CNV | deletion | 23290073 |
esv3621785 | CNV | loss | 21293372 |
nsv416166 | CNV | deletion | 16902084 |
nsv466569 | CNV | loss | 19166990 |
Disorder | Aliases | PubMed IDs |
---|---|---|
charcot-marie-tooth disease, axonal, type 2p |
|
|
autosomal dominant charcot-marie-tooth disease type 2g |
|
|
charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive |
|
|
stxbp1 encephalopathy |
|
|
developmental and epileptic encephalopathy 4 |
|
|