Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
3.6.4.12
Hydrolases;
Acting on acid anhydrides;
Acting on acid anhydrides to facilitate cellular and subcellular movement;
DNA helicase.
3.6.4.13
Hydrolases;
Acting on acid anhydrides;
Acting on acid anhydrides to facilitate cellular and subcellular movement;
RNA helicase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 1MSZ | Solution structure of the R3H domain from human Smubp-2 | |
| 2LRR | Solution structure of the R3H domain from human Smubp-2 in complex with 2'-deoxyguanosine-5'-monophosphate | |
| 4B3F | 2.5 | crystal structure of Ighmbp2 helicase |
| 4B3G | 2.85 | crystal structure of Ighmbp2 helicase in complex with RNA |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0032508 | DNA duplex unwinding |
| Biological Process | GO:0010501 | RNA secondary structure unwinding |
| Molecular Function | GO:0043139 | 5'-3' DNA helicase activity |
| Molecular Function | GO:0032574 | 5'-3' RNA helicase activity |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0016887 | ATP hydrolysis activity |
| Molecular Function | GO:0008094 | ATP-dependent activity, acting on DNA |
| Molecular Function | GO:0008186 | ATP-dependent activity, acting on RNA |
| Molecular Function | GO:0003677 | DNA binding |
| Molecular Function | GO:0003678 | DNA helicase activity |
| Molecular Function | GO:0003723 | RNA binding |
| Molecular Function | GO:0036121 | double-stranded DNA helicase activity |
| Molecular Function | GO:0042802 | identical protein binding |
| Molecular Function | GO:0043022 | ribosome binding |
| Molecular Function | GO:0003697 | single-stranded DNA binding |
| Molecular Function | GO:0003727 | single-stranded RNA binding |
| Molecular Function | GO:0000049 | tRNA binding |
| Molecular Function | GO:0008134 | transcription factor binding |
| Molecular Function | GO:0008270 | zinc ion binding |
| Cellular Component | GO:0030424 | axon |
| Cellular Component | GO:0005737 | cytoplasm |
| Cellular Component | GO:0030426 | growth cone |
| Cellular Component | GO:0016020 | membrane |
| Cellular Component | GO:0016604 | nuclear body |
| Cellular Component | GO:0005654 | nucleoplasm |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:1990904 | ribonucleoprotein complex |
| InterPro
|
InterPro name |
|---|---|
| IPR000058 | Zinc finger, AN1-type |
| IPR001374 | R3H domain |
| IPR003593 | AAA+ ATPase domain |
| IPR004483 | Helicase SMUBP-2/Hcs1-like |
| IPR014001 | Helicase superfamily 1/2, ATP-binding domain |
| IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| IPR034072 | DNA-binding protein SMUBP-2, R3H domain |
| IPR035896 | AN1-like Zinc finger |
| IPR036867 | R3H domain superfamily |
| IPR041677 | DNA2/NAM7 helicase, helicase domain |
| IPR041679 | DNA2/NAM7 helicase-like, C-terminal |
| IPR047187 | Upf1-like, C-terminal helicase domain |
| Pfam
|
Pfam name |
|---|---|
| PF01424 | R3H domain |
| PF01428 | AN1-like Zinc finger |
| PF13086 | AAA domain |
| PF13087 | AAA domain |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cell projection, axon | ECO:0000250 | |
| Cytoplasm | ECO:0000269 | PubMed:19299493 |
| Nucleus | ECO:0000269 | PubMed:19299493 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000020 | Urinary incontinence |
| HP:0000762 | Decreased nerve conduction velocity |
| HP:0000764 | Peripheral axonal degeneration |
| HP:0000975 | Hyperhidrosis |
| HP:0001265 | Hyporeflexia |
| HP:0001288 | Gait disturbance |
| HP:0001319 | Neonatal hypotonia |
| HP:0001508 | Failure to thrive |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001518 | Small for gestational age |
| HP:0001558 | Decreased fetal movement |
| HP:0001612 | Weak cry |
| HP:0001622 | Premature birth |
| HP:0001762 | Talipes equinovarus |
| HP:0002019 | Constipation |
| HP:0002398 | Degeneration of anterior horn cells |
| HP:0002460 | Distal muscle weakness |
| HP:0002522 | Areflexia of lower limbs |
| HP:0002650 | Scoliosis |
| HP:0002789 | Tachypnea |
| HP:0002878 | Respiratory failure |
| HP:0002936 | Distal sensory impairment |
| HP:0003376 | Steppage gait |
| HP:0003445 | EMG: neuropathic changes |
| HP:0003484 | Upper limb muscle weakness |
| HP:0003577 | Congenital onset |
| HP:0003621 | Juvenile onset |
| HP:0003677 | Slowly progressive |
| HP:0003690 | Limb muscle weakness |
| HP:0003693 | Distal amyotrophy |
| HP:0003701 | Proximal muscle weakness |
| HP:0005348 | Inspiratory stridor |
| HP:0005946 | Ventilator dependence with inability to wean |
| HP:0006597 | Diaphragmatic paralysis |
| HP:0007141 | Sensorimotor neuropathy |
| HP:0007269 | Spinal muscular atrophy |
| HP:0007340 | Lower limb muscle weakness |
| HP:0009027 | Foot dorsiflexor weakness |
| HP:0009109 | Denervation of the diaphragm |
| HP:0009110 | Diaphragmatic eventration |
| HP:0009113 | Diaphragmatic weakness |
| HP:0011463 | Childhood onset |
| HP:0012046 | Areflexia of upper limbs |
| HP:0012473 | Tongue atrophy |
| HP:0040078 | Axonal degeneration |
| HP:0100490 | Camptodactyly of finger |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| autosomal recessive distal spinal muscular atrophy 1 | MONDO:0011436 | G12 | chapter6, Diseases of the nervous system | OMIM:604320 | Orphanet:98920 |
| charcot-marie-tooth disease axonal type 2s | MONDO:0014511 | G60 | chapter6, Diseases of the nervous system | OMIM:616155 | Orphanet:443073 |
| autosomal dominant distal hereditary motor neuropathy | MONDO:0015362 | G12 | chapter6, Diseases of the nervous system | Orphanet:140465 |