C9orf72 - C9orf72-SMCR8 complex subunit Gene
Also Known as ALSFTD; DENND9; FTDALS; DENNL72; FTDALS1
Species: Homo sapiens
About C9orf72
This gene has 8 transcripts (splice variants), 207 orthologues and is associated with 7 phenotypes. Ubiquitous expression in appendix (RPKM 9.7), testis (RPKM 9.3) and 25 other tissues.
Summary
The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in Autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2016]
C9orf72 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001256054.3 | NP_001242983.1 | guanine nucleotide exchange factor C9orf72 isoform a |
| NM_018325.5 | NP_060795.1 | guanine nucleotide exchange factor C9orf72 isoform a |
| NM_145005.7 | NP_659442.2 | guanine nucleotide exchange factor C9orf72 isoform b |
| Molecular Function GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| enables GTPase activator activity |
IMP
IMP: Inferred from mutant phenotype
|
32303654 | GOA |
| contributes to guanyl-nucleotide exchange factor activity |
IDA
IDA: Inferred from direct assay
|
27103069 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
21516116 | GOA |
| enables small GTPase binding |
IDA
IDA: Inferred from direct assay
|
24549040 | GOA |
| Cellular Component GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| part of Atg1/ULK1 kinase complex |
IDA
IDA: Inferred from direct assay
|
27193190 | GOA |
| located in P-body |
IDA
IDA: Inferred from direct assay
|
27037575 | GOA |
| located in autophagosome |
IDA
IDA: Inferred from direct assay
|
24549040 | GOA |
| located in axonal growth cone |
IDA
IDA: Inferred from direct assay
|
27723745 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
27037575 | GOA |
| located in cytoplasmic stress granule |
IDA
IDA: Inferred from direct assay
|
27037575 | GOA |
| located in dendrite |
IDA
IDA: Inferred from direct assay
|
26174152 | GOA |
| located in endosome |
IDA
IDA: Inferred from direct assay
|
24549040 | GOA |
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
24549040 | GOA |
| part of guanyl-nucleotide exchange factor complex |
IDA
IDA: Inferred from direct assay
|
27103069 | GOA |
| part of guanyl-nucleotide exchange factor complex |
IPI
IPI: Inferred from physical interaction
|
29950492 | GOA |
| located in lysosome |
IDA
IDA: Inferred from direct assay
|
24549040 | GOA |
| located in main axon |
IDA
IDA: Inferred from direct assay
|
27723745 | GOA |
| located in nuclear membrane |
IDA
IDA: Inferred from direct assay
|
26174152 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
24549040 | GOA |
| located in perikaryon |
IDA
IDA: Inferred from direct assay
|
26174152 | GOA |
| is active in presynaptic cytosol |
IDA
IDA: Inferred from direct assay
|
30075745 | GOA |
C9orf72 Protein Structure
C9orf72-like: C9orf72-like protein family (60 - 325)
- 0
- 100
- 200
- 300
- 400
- 481 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
guanine nucleotide exchange factor C9orf72 |
|
C9orf72 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Références |
|---|---|---|---|---|---|---|---|
|
Intra
|
C9orf72 | Q96LT7 | TRIM74 | Homo sapiens | Q86UV6-2 | 32296183 | |
|
Intra
|
C9orf72 | Q96LT7 | TRIM74 | Homo sapiens | Q86UV6-2 | 32296183 | |
|
Intra
|
C9orf72 | Q96LT7 | EIF2B2 | Homo sapiens | Q53XC2 | 25416956 | |
|
Intra
|
C9orf72 | Q96LT7 | EIF2B2 | Homo sapiens | Q53XC2 | 25416956 | |
|
Intra
|
C9orf72 | Q96LT7 | EIF2B2 | Homo sapiens | Q9BPX4 | 25416956 | |
|
Intra
|
C9orf72 | Q96LT7 | SYN3 | Homo sapiens | Q17R54 | 32296183 | |
|
Intra
|
C9orf72 | Q96LT7 | SYN3 | Homo sapiens | Q17R54 | 32296183 | |
|
Intra
|
C9orf72 | Q96LT7 | VRTN | Homo sapiens | Q9H8Y1 | 32296183 | |
|
Intra
|
C9orf72 | Q96LT7 | VRTN | Homo sapiens | Q9H8Y1 | 32296183 | |
|
Intra
|
C9orf72 | Q96LT7 | VRTN | Homo sapiens | Q9H8Y1 | 32296183 | |
|
Intra
|
C9orf72 | Q96LT7 | SMCR8 | Homo sapiens | Q8TEV9 | 27103069 | |
|
Intra
|
C9orf72 | Q96LT7 | SMCR8 | Homo sapiens | Q8TEV9 | 27103069 | |
|
Intra
|
C9orf72 | Q96LT7 | SMCR8 | Homo sapiens | Q8TEV9 | 33961781 | |
|
Intra
|
C9orf72 | Q96LT7 | SMCR8 | Homo sapiens | Q8TEV9 | 32296183 | |
|
Intra
|
C9orf72 | Q96LT7 | SMCR8 | Homo sapiens | Q8TEV9 | 27107012 | |
|
Intra
|
C9orf72 | Q96LT7 | SMCR8 | Homo sapiens | Q8TEV9 | 32296183 | |
|
Intra
|
C9orf72 | Q96LT7 | REL | Homo sapiens | Q04864 | 25416956 | |
|
Intra
|
C9orf72 | Q96LT7 | REL | Homo sapiens | Q04864 | 25416956 | |
|
Intra
|
C9orf72 | Q96LT7 | POP7 | Homo sapiens | O75817 | 32296183 | |
|
Intra
|
C9orf72 | Q96LT7 | POP7 | Homo sapiens | O75817 | 32296183 | |
|
Intra
|
C9orf72 | Q96LT7 | NMI | Homo sapiens | Q13287 | 25416956 | |
|
Intra
|
C9orf72 | Q96LT7 | NMI | Homo sapiens | Q13287 | 25416956 | |
|
Intra
|
C9orf72 | Q96LT7 | NMI | Homo sapiens | Q13287 | 25416956 | |
|
Intra
|
C9orf72 | Q96LT7 | EIF2B2 | Homo sapiens | P49770 | 32296183 | |
|
Intra
|
C9orf72 | Q96LT7 | EIF2B2 | Homo sapiens | P49770 | 32296183 | |
|
Intra
|
C9orf72 | Q96LT7 | HMG20A | Homo sapiens | Q9NP66 | 32296183 | |
|
Intra
|
C9orf72 | Q96LT7 | HMG20A | Homo sapiens | Q9NP66 | 32296183 | |
|
Intra
|
C9orf72 | Q96LT7 | HMG20A | Homo sapiens | Q9NP66 | 32296183 | |
|
Intra
|
C9orf72 | Q96LT7 | CRX | Homo sapiens | O43186 | 25416956 | |
|
Intra
|
C9orf72 | Q96LT7 | CRX | Homo sapiens | O43186 | 25416956 | |
|
Intra
|
C9orf72 | Q96LT7 | COIL | Homo sapiens | P38432 | 32296183 | |
|
Intra
|
C9orf72 | Q96LT7 | COIL | Homo sapiens | P38432 | 32296183 |
C9orf72 Anticorps
| Cat. No. | Nom du produit | Application | Reactivity |
|---|---|---|---|
| HY-P84926 | C9orf72 Antibody (YA4623) | WB, IHC-P, ICC/IF, FC, ELISA | Human, Mouse, Monkey, Rat |
| HY-P84926A | C9orf72 Antibody (YA4623)(PBS only) | WB, IHC-P, ICC/IF, FC, ELISA | Human, Mouse, Monkey, Rat |
| HY-P86795 | C9orf72 Antibody (YA6488) | WB | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Huntington Disease-Like Syndrome Due To C9orf72 Expansions |
|
|
| Frontotemporal Dementia |
|
|
| Progressive Non-Fluent Aphasia |
|
|
| Pick Disease Of Brain |
|
|
| Lateral Sclerosis |
|
|
| Dementia |
|
|
| Aphasia |
|
|
| Speech And Communication Disorders |
|
|
| Spinocerebellar Ataxia 2 |
|
|
| Associative Agnosia |
|
|
| Spinocerebellar Ataxia 36 |
|
|
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
|
| Nominal Aphasia |
|
|
| Motor Neuron Disease |
|
|
| Dysgraphia |
|
|
| Progressive Bulbar Palsy |
|
|
| X-Linked Hereditary Ataxia |
|
|
| Writing Disorder |
|
|
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
|
| Phonagnosia |
|
|
| Anosognosia |
|
|
| Progressive Muscular Atrophy |
|
|
| Amyotrophic Lateral Sclerosis 18 |
|
|
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
|
| Muscular Atrophy |
|
|
| Prosopagnosia |
|
|
| Amyotrophic Lateral Sclerosis 19 |
|
|
| Spinocerebellar Ataxia 8 |
|
|
| Essential Tremor |
|
|
| Multisystem Proteinopathy |
|
|
| Amyotrophic Lateral Sclerosis Type 14 |
|
|
| Amyotrophic Lateral Sclerosis Type 15 |
|
|
| Agraphia |
|
|
| Amyotrophic Lateral Sclerosis Type 22 |
|
|
| Spinocerebellar Ataxia 31 |
|
|
| Postpoliomyelitis Syndrome |
|
|
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
|
| Myotonic Dystrophy 2 |
|
|
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
|
| Huntington Disease |
|
|
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
|
| Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 2 |
|
|
| Myotonic Disease |
|
|
| Ideomotor Apraxia |
|
|
| Perry Syndrome |
|
|
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
|
| Pseudobulbar Palsy |
|
|
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
|
| Amyotrophic Lateral Sclerosis 20 |
|
|
| Obsessive-Compulsive Disorder |
|
|
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
|
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
|
| Restless Legs Syndrome |
|
|
| Alexia |
|
|
| Pupil Disease |
|
|
| Supranuclear Palsy, Progressive, 1 |
|
|
| Amyotrophic Lateral Sclerosis 8 |
|
|
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
|
| Huntington Disease-Like 2 |
|
|
| Echolalia |
|
|
| Creutzfeldt-Jakob Disease |
|
|
| Amyotrophic Lateral Sclerosis Type 6 |
|
|
| Visual Agnosia |
|
|
| Amyotrophic Lateral Sclerosis 11 |
|
|
| Dementia, Lewy Body |
|
|
| Mutism |
|
|
| Paget'S Disease Of Bone |
|
|
| Cerebellar Disease |
|
|
| Hereditary Ataxia |
|
|
| Fatal Familial Insomnia |
|
|
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
|
| Autosomal Dominant Cerebellar Ataxia |
|
|
| Movement Disease |
|
|
| Spinocerebellar Ataxia 10 |
|
|
| Myotonic Dystrophy 1 |
|
|
| Hydrocephalus |
|
|
| Dystonia |
|
|
| Disease Of Mental Health |
|
|
| Multiple System Atrophy 1 |
|
|
| Fuchs' Endothelial Dystrophy |
|
|
| Choreatic Disease |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
|
| Epithelial-Stromal Tgfbi Dystrophy |
|
|
| Lattice Corneal Dystrophy |
|
|
| Dentatorubral-Pallidoluysian Atrophy |
|
|
| Epilepsy, Idiopathic Generalized 2 |
|
|
| Specific Developmental Disorder |
|
|
| Cortical Deafness |
|
|
| Premature Ovarian Failure 1 |
|
|
| Speech Disorder |
|
|
| Spinocerebellar Ataxia 1 |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Familial Adult Myoclonic Epilepsy |
|
|
| Neuronal Ceroid Lipofuscinosis |
|
|
| Neuromuscular Disease |
|
|
| Spinal Muscular Atrophy |
|
|
| Hereditary Spastic Paraplegia |
|
|
| Schizophrenia |
|
|
| Hemochromatosis, Type 1 |
|
|
| Nervous System Disease |
|
|
| Charcot-Marie-Tooth Disease |
|
|
| Peripheral Nervous System Disease |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
| Myopathy |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | C9orf72 | VGNC | VGNC:52742 |
| Macaca mulatta | C9orf72 | VGNC | VGNC:70419 |
| Rattus norvegicus | C9orf72 | RGD | RGD:1359108 |
| Canis familiaris | C9orf72 | VGNC | VGNC:52490 |
| Mus musculus | C9orf72 | MGD | MGI:1920455 |
| Felis catus | C9orf72 | VGNC | VGNC:60630 |
| Others | C9orf72 | NCBI |