| Gene Symbol |
C9orf72
|
| Entrez Gene |
203228
|
| Alt Symbol |
ALSFTD, FTDALS
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
chromosome 9 open reading frame 72
|
| Other Description |
protein C9orf72
|
| Swissprots |
D3DRK6 G8I0B6 A8K5W0 Q96LT7 Q6NUS9
|
| Accessions |
EAW58558 EAW58559 EAW58560 EAW58561 Q96LT7 AI141996 AK001971 BAA92009 AK057806 BAB71583 AK291425 BAF84114 AL832229 AL832467 BC020851 BC039112 BC068445 AAH68445 BG718065 BG722125 BQ068108 BQ777139 DA802421 HQ257955 ADR82709 JN681271 AET41697 NM_001256054 NP_001242983 NM_018325 NP_060795 NM_145005 NP_659442
|
| Function |
May play a role in endosomal trafficking and autophagy. {ECO:0000269|PubMed:24549040}.
|
| Subcellular Location |
Nucleus. Cytoplasm. Endosome. Lysosome. Cytoplasmic vesicle, autophagosome. Secreted. Note=Detected in the cytoplasm of neurons from post mortem brain tissue (PubMed:21944778). Detected in the nucleus in fibroblasts (PubMed:21944779). {ECO:0000269|PubMed:21944778, ECO:0000269|PubMed:21944779}.
|
| Tissue Specificity |
Both isoforms are widely expressed, including kidney, lung, liver, heart, testis and several brain regions, such as cerebellum. Also expressed in the frontal cortex and in lymphoblasts (at protein level). {ECO:0000269|PubMed:21944778, ECO:0000269|PubMed:21944779}.
|