IGHMBP2
entrez
3508
canonical
uniprot
P38935
canonical
ensembl
ENSG00000132740
resolver
ensp
ENSP00000255078
resolver
ensp
ENSP00000731723
resolver
ensp
ENSP00000783214
resolver
enst
ENST00000255078
resolver
genesymbol
IGHMBP2
resolver
genesymbol_syn
SMBP2
resolver
genesymbol_syn
SMUBP2
resolver
hgnc
HGNC:5542
resolver
uniprot
A0PJD2
resolver
uniprot
Q00443
resolver
uniprot
Q14177
resolver
uniprot_entry
SMBP2_HUMAN
resolver
uniprot_sec
A0PJD2
resolver
uniprot_sec
Q00443
resolver
uniprot_sec
Q14177
resolver
amino_acid_sequence
MASAAVESFVTKQLDLLELERDAEVEERRSWQENISLKELQSRGVCLLKLQVSSQRTGLYGRLLVTFEPRRYGSAAALPSNSFTSGDIVGLYDAANEGSQLATGILTRVTQKSVTVAFDESHDFQLSLDRENSYRLLKLANDVTYRRLKKALIALKKYHSGPASSLIEVLFGRSAPSPASEIHPLTFFNTCLDTSQKEAVLFALSQKELAIIHGPPGTGKTTTVVEIILQAVKQGLKVLCCAPSNIAVDNLVERLALCKQRILRLGHPARLLESIQQHSLDAVLARSDSAQIVADIRKDIDQVFVKNKKTQDKREKSNFRNEIKLLRKELKEREEAAMLESLTSANVVLATNTGASADGPLKLLPESYFDVVVIDECAQALEASCWIPLLKARKCILAGDHKQLPPTTVSHKAALAGLSLSLMERLAEEYGARVVRTLTVQYRMHQAIMRWASDTMYLGQLTAHSSVARHLLRDLPGVAATEETGVPLLLVDTAGCGLFELEEEDEQSKGNPGEVRLVSLHIQALVDAGVPARDIAVVSPYNLQVDLLRQSLVHRHPELEIKSVDGFQGREKEAVILSFVRSNRKGEVGFLAEDRRINVAVTRARRHVAVICDSRTVNNHAFLKTLVEYFTQHGEVRTAFEYLDDIVPENYSHENSQGSSHAATKPQGPATSTRTGSQRQEGGQEAAAPARQGRKKPAGKSLASEAPSQPSLNGGSPEGVESQDGVDHFRAMIVEFMASKKMQLEFPPSLNSHDRLRVHQIAEEHGLRHDSSGEGKRRFITVSKRAPRPRAALGPPAGTGGPAPLQPVPPTPAQTEQPPREQRGPDQPDLRTLHLERLQRVRSAQGQPASKEQQASGQQKLPEKKKKKAKGHPATDLPTEEDFEALVSAAVKADNTCGFAKCTAGVTTLGQFCQLCSRRYCLSHHLPEIHGCGERARAHARQRISREGVLYAGSGTKNGSLDPAKRAQLQRRLDKKLSELSNQRTSRRKERGT
uniprot
proteins
disease_involvement
DISEASE: Neuronopathy, distal hereditary motor, autosomal recessive 1 (HMNR1) [MIM:604320]: A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. {ECO:0000269|PubMed:11528396, ECO:0000269|PubMed:14681881, ECO:0000269|PubMed:15108294, ECO:0000269|PubMed:15290238, ECO:0000269|PubMed:17431882, ECO:0000269|PubMed:18802676, ECO:0000269|PubMed:19158098}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Charcot-Marie-Tooth disease, axonal, type 2S (CMT2S) [MIM:616155]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. {ECO:0000269|PubMed:25439726}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
5.6.2.3
uniprot
proteins
ec_number
5.6.2.5
uniprot
proteins
function
FUNCTION: 5' to 3' helicase that unwinds both RNA and DNA duplexes in an ATP-dependent reaction (Probable) (PubMed:19158098, PubMed:30218034). Specific to 5'-phosphorylated single-stranded guanine-rich sequences (PubMed:22999958, PubMed:8349627). May play a role in RNA metabolism, ribosome biogenesis or initiation of translation (PubMed:19158098, PubMed:19299493). May play a role in regulation of transcription (By similarity). Interacts with tRNA-Tyr (PubMed:19299493). Has low processivity (PubMed:30218034). {ECO:0000250|UniProtKB:Q9EQN5, ECO:0000269|PubMed:19158098, ECO:0000269|PubMed:19299493, ECO:0000269|PubMed:22999958, ECO:0000269|PubMed:30218034, ECO:0000269|PubMed:8349627, ECO:0000305|PubMed:22965130}.
uniprot
proteins
mass_dalton
109149
uniprot
proteins
mutagenesis
MUTAGEN 219..221; /note="GKT->AAA: Loss of ATPase activity."; /evidence="ECO:0000269|PubMed:19158098"; MUTAGEN 375..376; /note="DE->AA: Loss of ATPase and helicase activity."; /evidence="ECO:0000269|PubMed:19158098
uniprot
proteins
protein_family
DNA2/NAM7 helicase family
uniprot
proteins
pubmed
10049831
uniprot
proteins
pubmed
11528396
uniprot
proteins
pubmed
12547203
uniprot
proteins
pubmed
14681881
uniprot
proteins
pubmed
15108294
uniprot
proteins
pubmed
15290238
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15797190
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
1714899
uniprot
proteins
pubmed
17431882
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
18802676
uniprot
proteins
pubmed
19158098
uniprot
proteins
pubmed
19299493
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
22965130
uniprot
proteins
pubmed
22999958
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25439726
uniprot
proteins
pubmed
30218034
uniprot
proteins
pubmed
8349627
uniprot
proteins
sequence_length
993
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19299493}. Cytoplasm {ECO:0000269|PubMed:19158098, ECO:0000269|PubMed:19299493}. Cell projection, axon {ECO:0000250|UniProtKB:P40694}.
uniprot
proteins