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The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]
TSPAN1 (Tetraspanin 1) is a Protein Coding gene. Diseases associated with TSPAN1 include Retinitis Pigmentosa 76 and Muscle Eye Brain Disease. An important paralog of this gene is TSPAN18.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 21836059 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IDA | 12115476 |
GO:0005764 | lysosome | IEA | -- |
GO:0005765 | lysosomal membrane | IEA | -- |
GO:0005886 | plasma membrane | IDA | 21836059 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0050821 | protein stabilization | IDA | 21836059 |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | · | 10c | ^ | 11a | · | 11b | · | 11c | · | 11d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||
SP7: | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP8: | - | - | |||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP10: | - | ||||||||||||||||||||||||||||||||||||||||
SP11: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TSPAN1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TSPAN1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TSPAN1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tspan1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tspan1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | TSPAN1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TSPAN1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TSPAN1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TSPAN1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tspan1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.24793 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | zgc:64085 30 |
|
||
TSPAN1 31 |
|
OneToOne | |||
-- 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Tsp66E 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | tsp-11 31 |
|
ManyToMany | |
tsp-13 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10827 31 |
|
ManyToMany | |
CSA.8143 31 |
|
ManyToMany | |||
CSA.5127 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638451 | Uncertain Significance: POMGNT1-Related Disorders | 46,192,950(+) | C/A | MISSENSE_VARIANT | |
642934 | Likely Pathogenic: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3; Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | 46,194,843(+) | C/A | SPLICE_DONOR_VARIANT | |
643942 | Uncertain Significance: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3; Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | 46,189,477(+) | C/T | MISSENSE_VARIANT,INTRON_VARIANT | |
644042 | Uncertain Significance: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3; Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | 46,192,913(+) | C/G | MISSENSE_VARIANT | |
644389 | Uncertain Significance: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3; Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | 46,194,870(+) | G/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
retinitis pigmentosa 76 |
|
|
muscle eye brain disease |
|
|
muscular dystrophy-dystroglycanopathy |
|
|
retinitis pigmentosa |
|
|