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This gene encodes a protein which contains an N-terminal sterile alpha motif (SAM) for protein-protein interactions, followed by an ATP/GTP-binding motif, a GTPase-activating protein (GAP) domain, and a C-terminal STAR-related lipid transfer (START) domain. It may be involved in regulation of cytoskeletal reorganization, cell proliferation, and cell motility, and acts as a tumor suppressor in hepatoma cells. The gene is located in a region of chromosome 13 that is associated with loss of heterozygosity in hepatocellular carcinomas. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
STARD13 (StAR Related Lipid Transfer Domain Containing 13) is a Protein Coding gene. Diseases associated with STARD13 include Hepatocellular Carcinoma and Intracranial Aneurysm. Among its related pathways are Signaling by GPCR and p75 NTR receptor-mediated signalling. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and lipid binding. An important paralog of this gene is DLC1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005096 | GTPase activator activity | IBA | 21873635 |
GO:0005515 | protein binding | IEA,IPI | 14697242 |
GO:0008289 | lipid binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005739 | mitochondrion | IEA | -- |
GO:0005811 | lipid droplet | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | p75 NTR receptor-mediated signalling |
.36
|
|
2 | Signaling by GPCR | ||
3 | Signaling by Rho GTPases |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007165 | signal transduction | IEA | -- |
GO:0030036 | actin cytoskeleton organization | IBA | 21873635 |
GO:0035023 | regulation of Rho protein signal transduction | IBA | 21873635 |
GO:0043542 | endothelial cell migration | IMP | 20208559 |
GO:0043547 | positive regulation of GTPase activity | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | · | 15c | · | 15d | ^ | 16 | ^ | 17 | ^ | 18a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - |
ExUns: | 18b | ^ | 19a | · | 19b | ^ | 20 | ^ | 21 | ^ | 22a | · | 22b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||
SP2: | |||||||||||||
SP3: | |||||||||||||
SP4: | |||||||||||||
SP5: | |||||||||||||
SP6: | |||||||||||||
SP7: | |||||||||||||
SP8: | |||||||||||||
SP9: | - | ||||||||||||
SP10: | |||||||||||||
SP11: | |||||||||||||
SP12: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | STARD13 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | STARD13 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | STARD13 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | STARD13 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Stard13 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Stard13 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | STARD13 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | STARD13 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | STARD13 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | stard13 30 |
|
||
Str.6797 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | stard13a 30 31 |
|
ManyToMany | |
stard13b 31 |
|
ManyToMany | |||
si:dkeyp-23e4.3 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 13 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs111691119 | Benign: not provided | 33,130,182(-) |
T/A NM_178006.4(STARD13):c.495A>T (p.Arg165=) |
SYNONYMOUS | |
rs114088950 | Benign: not provided | 33,130,209(-) |
C/T NM_178006.4(STARD13):c.468G>A (p.Val156=) |
SYNONYMOUS | |
rs114645645 | Likely Benign: not provided | 33,109,898(-) |
G/A NM_178006.4(STARD13):c.3022C>T (p.Pro1008Ser) |
MISSENSE | |
rs117237914 | Benign: not provided | 33,106,808(-) |
C/T NM_178006.4(STARD13):c.3174G>A (p.Pro1058=) |
SYNONYMOUS | |
rs142245407 | Likely Benign: not provided | 33,130,211(-) |
C/T NM_178006.4(STARD13):c.466G>A (p.Val156Met) |
MISSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
hepatocellular carcinoma |
|
|
intracranial aneurysm |
|
|
arteriovenous malformations of the brain |
|
|
non-syndromic x-linked intellectual disability |
|
|
adams-oliver syndrome |
|
|