guanine nucleotide exchange factor C9orf72 isoform b [Homo sapiens]
Protein Classification
List of domain hits
| Name | Accession | Description | Interval | E-value | |||
| C9orf72-like super family | cl20895 | C9orf72-like protein family; The precise function of this family is unknown but members have ... |
61-211 | 5.81e-37 | |||
C9orf72-like protein family; The precise function of this family is unknown but members have been found to be localized in the cytoplasm of brain tissue. Defects in the gene, C9orf72, are the cause of frontotemporal dementia and/or amyotrophic lateral sclerosis (FTDALS) which is an autosomal dominant neurodegenerative disorder. The disorder is caused by a large expansion of a GGGGCC hexa-nucleotide within the first C9orf72 intron located between the first and the second non-coding exons. The expansion leads to the loss of transcription of one of the two transcripts encoding isoform 1 and to the formation of nuclear RNA foci. This domain family is found in eukaryotes, and is typically between 230 and 250 amino acids in length. There is a single completely conserved residue F that may be functionally important. The actual alignment was detected with superfamily member pfam15019: Pssm-ID: 464450 Cd Length: 230 Bit Score: 128.93 E-value: 5.81e-37
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| Name | Accession | Description | Interval | E-value | |||
| C9orf72-like | pfam15019 | C9orf72-like protein family; The precise function of this family is unknown but members have ... |
61-211 | 5.81e-37 | |||
C9orf72-like protein family; The precise function of this family is unknown but members have been found to be localized in the cytoplasm of brain tissue. Defects in the gene, C9orf72, are the cause of frontotemporal dementia and/or amyotrophic lateral sclerosis (FTDALS) which is an autosomal dominant neurodegenerative disorder. The disorder is caused by a large expansion of a GGGGCC hexa-nucleotide within the first C9orf72 intron located between the first and the second non-coding exons. The expansion leads to the loss of transcription of one of the two transcripts encoding isoform 1 and to the formation of nuclear RNA foci. This domain family is found in eukaryotes, and is typically between 230 and 250 amino acids in length. There is a single completely conserved residue F that may be functionally important. Pssm-ID: 464450 Cd Length: 230 Bit Score: 128.93 E-value: 5.81e-37
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| Name | Accession | Description | Interval | E-value | |||
| C9orf72-like | pfam15019 | C9orf72-like protein family; The precise function of this family is unknown but members have ... |
61-211 | 5.81e-37 | |||
C9orf72-like protein family; The precise function of this family is unknown but members have been found to be localized in the cytoplasm of brain tissue. Defects in the gene, C9orf72, are the cause of frontotemporal dementia and/or amyotrophic lateral sclerosis (FTDALS) which is an autosomal dominant neurodegenerative disorder. The disorder is caused by a large expansion of a GGGGCC hexa-nucleotide within the first C9orf72 intron located between the first and the second non-coding exons. The expansion leads to the loss of transcription of one of the two transcripts encoding isoform 1 and to the formation of nuclear RNA foci. This domain family is found in eukaryotes, and is typically between 230 and 250 amino acids in length. There is a single completely conserved residue F that may be functionally important. Pssm-ID: 464450 Cd Length: 230 Bit Score: 128.93 E-value: 5.81e-37
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