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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q6SZW1 |
| Protein name |
NAD(+) hydrolase SARM1 (NADase SARM1) (hSARM1) (EC 3.2.2.6) (NADP(+) hydrolase SARM1) (EC 3.2.2.-) (Sterile alpha and Armadillo repeat protein) (Sterile alpha and TIR motif-containing protein 1) (Sterile alpha motif domain-containing protein 2) (MyD88-5) |
| Protein function |
NAD(+) hydrolase, which plays a key role in axonal degeneration following injury by regulating NAD(+) metabolism (PubMed:25908823, PubMed:27671644, PubMed:28334607). Acts as a negative regulator of MYD88- and TRIF-dependent toll-like receptor si |
| PDB |
6O0Q
, 6O0R
, 6O0S
, 6O0T
, 6O0U
, 6O0V
, 6O1B
, 6QWV
, 6WPK
, 6ZFX
, 6ZG0
, 6ZG1
, 7ANW
, 7CM5
, 7CM6
, 7CM7
, 7DJT
, 7KNQ
, 7LD0
, 7NAG
, 7NAH
, 7NAI
, 7NAJ
, 7NAK
, 7NAL
, 7QG0
, 8D0C
, 8D0D
, 8D0E
, 8D0F
, 8D0G
, 8D0H
, 8D0I
, 8D0J
, 8GNI
, 8GNJ
, 8GQ5
, 8P2L
, 9L2D
, 9L2E
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| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF07647 |
SAM_2 |
409 → 474 |
SAM domain (Sterile alpha motif) |
Domain |
| PF07647 |
SAM_2 |
479 → 546 |
SAM domain (Sterile alpha motif) |
Domain |
| PF13676 |
TIR_2 |
564 → 696 |
TIR domain |
Domain |
|
| Tissue specificity |
TISSUE SPECIFICITY: Predominantly expressed in brain, kidney and liver. Expressed at lower level in placenta. {ECO:0000269|PubMed:11386760, ECO:0000269|PubMed:17724133}. |
| Sequence |
|
| Sequence length |
724 |
| 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 |
Evidence Score |
| Amyotrophic lateral sclerosis |
Uncertain significance |
ClinVar
Disgenet, GWAS catalog
Disgenet, GWAS catalog
| ★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| FOLATE MALABSORPTION, HEREDITARY |
— |
Disgenet
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| HYPERTENSION |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| SPORADIC AMYOTROPHIC LATERAL SCLEROSIS |
— |
GWAS catalog
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| VISION DISORDERS |
— |
CTD
| ★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
|
| Disease Name |
Relationship Type |
References |
Evidence Score |
| Alzheimer Disease |
Associate |
32413284 |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Amyotrophic Lateral Sclerosis |
Associate |
32413284, 36759259, 37639066 |
★★★★★★★★☆☆ Reported in Unknown/Other Associations (≥2 sources) |
| Arthritis Rheumatoid |
Associate |
33605409 |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Cystic Fibrosis |
Inhibit |
31813753 |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Heredodegenerative Disorders Nervous System |
Associate |
33548217 |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammation |
Associate |
23923041 |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasm Metastasis |
Stimulate |
32428870 |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Nerve Degeneration |
Associate |
30333228, 32413284, 33548217 |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neurodegenerative Diseases |
Associate |
30333228, 32828421 |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Parkinson Disease |
Associate |
30333228 |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Peripheral Nervous System Diseases |
Associate |
33548217 |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Prostatic Neoplasms |
Associate |
32428870 |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Retrograde Degeneration |
Associate |
33548217 |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Wallerian Degeneration |
Associate |
32828421 |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Wounds and Injuries |
Associate |
33548217 |
★★★★★★☆☆☆☆ Found in Text Mining only |
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