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This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest expression in skeletal muscle. The protein is named for Strumpell disease; a form of hereditary spastic paraplegia (HSP). Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal tracts. More than 30 loci (SPG1-33) have been implicated in hereditary spastic paraplegia diseases. [provided by RefSeq, Aug 2009]
WASHC5 (WASH Complex Subunit 5) is a Protein Coding gene. Diseases associated with WASHC5 include Spastic Paraplegia 8, Autosomal Dominant and Ritscher-Schinzel Syndrome 1. Among its related pathways are Endocytosis.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 20923837 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005768 | endosome | IEA | -- |
GO:0005769 | early endosome | IEA,IDA | 23676666 |
GO:0005783 | endoplasmic reticulum | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Endocytosis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001556 | oocyte maturation | IEA | -- |
GO:0010976 | positive regulation of neuron projection development | IEA | -- |
GO:0015031 | protein transport | IEA | -- |
GO:0016197 | endosomal transport | IEA | -- |
GO:0040038 | polar body extrusion after meiotic divisions | IEA | -- |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | KIAA0196 33 32 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | KIAA0196 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | -- 33 |
|
OneToMany | |
-- 33 |
|
OneToMany | |||
dog (Canis familiaris) |
Mammalia | KIAA0196 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | KIAA0196 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | RGD1564420 32 |
|
||
mouse (Mus musculus) |
Mammalia | E430025E21Rik 33 32 |
|
OneToOne | |
Washc5 17 |
|
||||
chicken (Gallus gallus) |
Aves | KIAA0196 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | KIAA0196 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | kiaa0196 32 |
|
||
Str.16493 32 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.24528 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | strumpellin 33 32 |
|
OneToOne | |
zgc55908 32 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007019 32 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | CG12272 33 32 |
|
OneToOne | |
worm (Caenorhabditis elegans) |
Secernentea | T05E7.3 33 32 |
|
OneToOne | |
rice (Oryza sativa) |
Liliopsida | Os04g0398800 32 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.2068 33 |
|
OneToOne |
SNP ID | Clin | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs10429323 | likely-benign, benign, Spastic paraplegia, autosomal dominant, not specified, Dandy-Walker like malformation with atrioventricular septal defect, Spastic paraplegia 8, not provided | 125,067,625(-) | T/C | coding_sequence_variant, synonymous_variant | |
rs1044612540 | likely-benign, Dandy-Walker like malformation with atrioventricular septal defect, Spastic paraplegia 8 | 125,057,646(-) | C/A | coding_sequence_variant, synonymous_variant | |
rs1060502725 | uncertain-significance, Spastic paraplegia, not provided | 125,055,602(-) | C/T | coding_sequence_variant, missense_variant | |
rs1060504698 | likely-benign, Spastic paraplegia | 125,083,803(-) | G/A/C | coding_sequence_variant, intron_variant, synonymous_variant | |
rs11542889 | benign, not specified, Spastic paraplegia, autosomal dominant, Spastic paraplegia 8 | 125,032,285(-) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant |
Disorder | Aliases | PubMed IDs |
---|---|---|
spastic paraplegia 8, autosomal dominant |
|
|
ritscher-schinzel syndrome 1 |
|
|
spastic paraplegia 8 |
|
|
spasticity |
|
|
paraplegia |
|
|