|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
|
Q13765 |
| Protein name |
Nascent polypeptide-associated complex subunit alpha (NAC-alpha) (Alpha-NAC) (allergen Hom s 2) |
| Protein function |
Prevents inappropriate targeting of non-secretory polypeptides to the endoplasmic reticulum (ER). Binds to nascent polypeptide chains as they emerge from the ribosome and blocks their interaction with the signal recognition particle (SRP), which |
| PDB |
3LKX
, 3MCB
, 3MCE
, 7QWQ
, 7QWR
, 7QWS
, 8P2K
, 9F1B
, 9F1C
, 9F1D
, 9FQ0
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF01849 |
NAC |
73 → 129 |
NAC domain |
Family |
| PF19026 |
HYPK_UBA |
174 → 214 |
HYPK UBA domain |
Domain |
|
| Tissue specificity |
TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:16201836}. |
| Sequence |
|
| Sequence length |
215 |
|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
|
E9PAV3 |
| Protein name |
Nascent polypeptide-associated complex subunit alpha, muscle-specific form (Alpha-NAC, muscle-specific form) (skNAC) |
| Protein function |
Cardiac- and muscle-specific transcription factor. May act to regulate the expression of genes involved in the development of myotubes. Plays a critical role in ventricular cardiomyocyte expansion and regulates postnatal skeletal muscle growth a |
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF01849 |
NAC |
1936 → 1992 |
NAC domain |
Family |
| PF19026 |
HYPK_UBA |
2037 → 2077 |
HYPK UBA domain |
Domain |
|
| Sequence |
|
| Sequence length |
2078 |
| Interactions |
View interactions |
|
Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
|
| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| ATRIAL FIBRILLATION |
— |
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
|
29892015, 29892015, 30061737, 30061737, 34594039, 35872910, 36653681, 39024449, 39537608, 40050429, 40645996 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| CARDIAC ARRHYTHMIA |
— |
GWAS catalog
|
32514122 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| PANCREATIC CARCINOMA |
— |
GWAS catalog
|
34290314 |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
|
| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Atrial Fibrillation |
Atrial Fibrillation |
CTD_human_DG |
29892015, 30061737 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Down Syndrome |
Down Syndrome |
BEFREE |
12109594 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Down Syndrome |
Down Syndrome |
LHGDN |
12109594 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Juvenile Myelomonocytic Leukemia |
Myelomonocytic Leukemia |
LHGDN |
12699894 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
25209525 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Disorders |
Neurodegenerative Disorders |
BEFREE |
12109594 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Paroxysmal atrial fibrillation |
Paroxysmal atrial fibrillation |
CTD_human_DG |
29892015, 30061737 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Rhabdomyosarcoma |
Rhabdomyosarcoma |
BEFREE |
25209525 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
|