ATL1 - atlastin GTPase 1 Gene
Also Known as FSP1; GBP3; SPG3; HSN1D; SPG3A; AD-FSP; atlastin1
Species: Homo sapiens
About ATL1
This gene has 23 transcripts (splice variants), 214 orthologues, 10 paralogues and is associated with 4 phenotypes. Broad expression in brain (RPKM 34.8), endometrium (RPKM 5.1) and 15 other tissues.
Summary
The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ATL1 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001127713.1 | NP_001121185.1 | atlastin-1 isoform b |
| NM_015915.5 | NP_056999.2 | atlastin-1 isoform a |
| NM_181598.4 | NP_853629.2 | atlastin-1 isoform b |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables GTPase activity |
IDA
IDA: Inferred from direct assay
|
14506257 | GOA |
| enables identical protein binding |
IDA
IDA: Inferred from direct assay
|
14506257 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
21220294 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16815977 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in endoplasmic reticulum organization |
IDA
IDA: Inferred from direct assay
|
19665976 | GOA |
| involved in endoplasmic reticulum tubular network membrane organization |
IMP
IMP: Inferred from mutant phenotype
|
27619977 | GOA |
| involved in protein homooligomerization |
IDA
IDA: Inferred from direct assay
|
14506257 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
19665976 | GOA |
| located in endoplasmic reticulum tubular network membrane |
IDA
IDA: Inferred from direct assay
|
27619977 | GOA |
| located in membrane |
IDA
IDA: Inferred from direct assay
|
14506257 | GOA |
ATL1 Protein Structure
GBP: Guanylate-binding protein, N-terminal domain (43 - 312)
- 0
- 100
- 200
- 300
- 400
- 500
- 558 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
atlastin-1 |
|
ATL1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
ATL1 | Q8WXF7 | NF2 | Homo sapiens | P35240 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | NF2 | Homo sapiens | P35240 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | NF2 | Homo sapiens | P35240 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | CISD2 | Homo sapiens | Q8N5K1 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | CISD2 | Homo sapiens | Q8N5K1 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | CISD2 | Homo sapiens | Q8N5K1 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | YARS1 | Homo sapiens | P54577 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | YARS1 | Homo sapiens | P54577 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | YARS1 | Homo sapiens | P54577 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | JPH3 | Homo sapiens | Q8WXH2 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | JPH3 | Homo sapiens | Q8WXH2 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | JPH3 | Homo sapiens | Q8WXH2 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | RAB7A | Homo sapiens | P51149 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | RAB7A | Homo sapiens | P51149 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | RAB7A | Homo sapiens | P51149 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | DNM2 | Homo sapiens | P50570-2 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | DNM2 | Homo sapiens | P50570-2 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | DNM2 | Homo sapiens | P50570-2 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | PPT1 | Homo sapiens | P50897 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | PPT1 | Homo sapiens | P50897 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | PPT1 | Homo sapiens | P50897 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | ehd27213144 | Homo sapiens | EBI-25865403 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | ATL1 | Homo sapiens | Q8WXF7 | 21368113 | |
|
Intra
|
ATL1 | Q8WXF7 | ATL1 | Homo sapiens | Q8WXF7 | 23334294 | |
|
Intra
|
ATL1 | Q8WXF7 | ATL1 | Homo sapiens | Q8WXF7 | 21368113 | |
|
Intra
|
ATL1 | Q8WXF7 | ATL1 | Homo sapiens | Q8WXF7 | 23334294 | |
|
Intra
|
ATL1 | Q8WXF7 | ccsb_9919 | Homo sapiens | EBI-25847655 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | ATL1 | Homo sapiens | Q8WXF7 | 23334294 | |
|
Intra
|
ATL1 | Q8WXF7 | ATL1 | Homo sapiens | Q8WXF7 | 21368113 | |
|
Intra
|
ATL1 | Q8WXF7 | ATL1 | Homo sapiens | Q8WXF7 | 21220294 | |
|
Intra
|
ATL1 | Q8WXF7 | ehd27213144 | Homo sapiens | EBI-25865403 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | ATL1 | Homo sapiens | Q8WXF7 | 21220294 | |
|
Intra
|
ATL1 | Q8WXF7 | ccsb_9919 | Homo sapiens | EBI-25847655 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | ehd27213144 | Homo sapiens | EBI-25865403 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | ATL1 | Homo sapiens | Q8WXF7 | 21220294 | |
|
Intra
|
ATL1 | Q8WXF7 | ATL1 | Homo sapiens | Q8WXF7 | 21220294 | |
|
Intra
|
ATL1 | Q8WXF7 | ccsb_9919 | Homo sapiens | EBI-25847655 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | ATL1 | Homo sapiens | Q8WXF7 | 21368113 | |
|
Intra
|
ATL1 | Q8WXF7 | PEX7 | Homo sapiens | O00628-2 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | PEX7 | Homo sapiens | O00628-2 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | PEX7 | Homo sapiens | O00628-2 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | PANK2 | Homo sapiens | Q9BZ23-2 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | PANK2 | Homo sapiens | Q9BZ23-2 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | PANK2 | Homo sapiens | Q9BZ23-2 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | ZFYVE27 | Homo sapiens | Q5T4F4 | 23969831 | |
|
Intra
|
ATL1 | Q8WXF7 | SMN1 | Homo sapiens | Q16637 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | SMN1 | Homo sapiens | Q16637 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | SMN1 | Homo sapiens | Q16637 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | HTT | Homo sapiens | P42858 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | SPRED1 | Homo sapiens | Q7Z699 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | SPRED1 | Homo sapiens | Q7Z699 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | SPRED1 | Homo sapiens | Q7Z699 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | NDUFV2 | Homo sapiens | P19404 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | NDUFV2 | Homo sapiens | P19404 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | NDUFV2 | Homo sapiens | P19404 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | OPTN | Homo sapiens | Q96CV9 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | OPTN | Homo sapiens | Q96CV9 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | OPTN | Homo sapiens | Q96CV9 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | PRPH | Homo sapiens | P41219 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | PRPH | Homo sapiens | P41219 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | PRPH | Homo sapiens | P41219 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | PRNP | Homo sapiens | P04156 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | PRNP | Homo sapiens | P04156 | 32814053 | |
|
Intra
|
ATL1 | Q8WXF7 | PRNP | Homo sapiens | P04156 | 32814053 | |
|
Cross
|
ATL1 | Q8WXF7 | Rtn4 | Rattus norvegicus | Q9JK11-3 | 19665976 |
Recombinant ATL1 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P77214 | SPG3A/ATL1 Protein, Human (sf9, His) | Q8WXF7-1 (M1-T447) | ≥ 95%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Spastic Paraplegia 3, Autosomal Dominant |
|
|
| Neuropathy, Hereditary Sensory, Type Id |
|
|
| Spastic Paraplegia 3a |
|
|
| Hereditary Spastic Paraplegia |
|
|
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
|
| Paraplegia |
|
|
| Spastic Paraplegia 73, Autosomal Dominant |
|
|
| Masa Syndrome |
|
|
| Spastic Paraplegia 2, X-Linked |
|
|
| Nervous System Disease |
|
|
| Spastic Paraplegia 12, Autosomal Dominant |
|
|
| Spastic Paraplegia 6, Autosomal Dominant |
|
|
| Spastic Paraplegia 13, Autosomal Dominant |
|
|
| Congenital Nervous System Abnormality |
|
|
| Spastic Paraplegia 14, Autosomal Recessive |
|
|
| Spastic Paraplegia 61, Autosomal Recessive |
|
|
| Spastic Paraplegia 42, Autosomal Dominant |
|
|
| Spastic Paraplegia 20, Autosomal Recessive |
|
|
| Spastic Paraplegia 43, Autosomal Recessive |
|
|
| Retinitis Pigmentosa 3 |
|
|
| Neuropathy |
|
|
| Hereditary Spastic Paraplegia 30 |
|
|
| Neuronopathy, Distal Hereditary Motor, Type Va |
|
|
| Spastic Paraplegia 57, Autosomal Recessive |
|
|
| Spastic Paraplegia 31, Autosomal Dominant |
|
|
| Spastic Paraplegia 10, Autosomal Dominant |
|
|
| Spastic Paraplegia 36, Autosomal Dominant |
|
|
| Spastic Paraplegia 18, Autosomal Recessive |
|
|
| Hereditary Spastic Paraplegia 49 |
|
|
| Hereditary Sensory Neuropathy |
|
|
| Spastic Paraplegia 54, Autosomal Recessive |
|
|
| Spastic Paraplegia 24, Autosomal Recessive |
|
|
| Spastic Paraplegia 53, Autosomal Recessive |
|
|
| Spastic Paraplegia 4, Autosomal Dominant |
|
|
| Spastic Paraplegia 62, Autosomal Recessive |
|
|
| Cerebral Palsy |
|
|
| Hereditary Spastic Paraplegia 35 |
|
|
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
|
| Spastic Paraplegia 8, Autosomal Dominant |
|
|
| Spastic Paraplegia 34, X-Linked |
|
|
| Spastic Paraplegia 17, Autosomal Dominant |
|
|
| Friedreich Ataxia |
|
|
| Spastic Cerebral Palsy |
|
|
| Spastic Ataxia |
|
|
| Retinitis Pigmentosa |
|
|
| Charcot-Marie-Tooth Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | ATL1 | VGNC | VGNC:38230 |
| Macaca mulatta | ATL1 | VGNC | VGNC:70049 |
| Felis catus | ATL1 | VGNC | VGNC:60008 |
| Rattus norvegicus | ATL1 | RGD | RGD:1359232 |
| Bos taurus | ATL1 | VGNC | VGNC:26265 |
| Mus musculus | ATL1 | MGD | MGI:1921241 |
| Others | ATL1 | NCBI |