QuickView for TAHCCP1 (gene)

Gene Symbol:

SPART Homo sapiens

Full name:

spartin

Synonyms:

SPG20, TAHCCP1, spartin, spastic paraplegia 20 (Troyer syndrome), trans-activated by hepatitis C virus core protein 1

Genomic Location:

Chr 13: 35773775-35818453

Description:

This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation t...

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This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome).

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Danio rerio ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TTTGCAC_MIR19A_MIR19B ,  TTTGCAG_MIR518A2 ,  AREB6_04 ,  TTGCACT_MIR130A_MIR301_MIR130B ,  ACCAAAG_MIR9 ,  AACTTT_UNKNOWN

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-130 ,  Predicted Gene Targets for miR-19 ,  Predicted Gene Targets for miR-21 ,  Predicted Gene Targets for miR-9

Cytogenetic Map:

13q13.3

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