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REEP1
Required for endoplasmic reticulum (ER) network formation, shaping and remodeling; it links ER tubules to the cytoskeleton. May also enhance the cell surface expression of odorant receptors. May play a role in long-term axonal maintenance. Belongs to the DP1 family. Expressed in circumvallate papillae and testis. 4 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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| Protein type: Membrane protein, integral; Membrane protein, multi-pass |
| Chromosomal Location of human Ortholog: 2p11.2 |
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Cellular Component:
cytoplasm; cytoplasmic microtubule; endoplasmic reticulum; endoplasmic reticulum membrane; endoplasmic reticulum tubular network; membrane; mitochondrial membrane
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Molecular Function:
microtubule binding; olfactory receptor binding; protein binding
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Biological Process:
endoplasmic reticulum tubular network organization; protein insertion into membrane
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Disease: Neuronopathy, Distal Hereditary Motor, Type Vb; Spastic Paraplegia 31, Autosomal Dominant; Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
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Reference #:
Q9H902
(UniProtKB)
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Alt. Names/Synonyms: C2orf23; FLJ13110; HMN5B; receptor accessory protein 1; Receptor expression-enhancing protein 1; REEP1; Spastic paraplegia 31 protein; SPG31; Yip2a
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Gene Symbols: REEP1
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Molecular weight:
22,255 Da
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Basal Isoelectric point:
9.52
Predict pI for various phosphorylation states
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