Homo sapiens (human): 3508
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Entry
3508 CDS
T01001
Symbol
IGHMBP2, CATF1, CMT2S, HCSA, HMN6, HMNR1, SMARD1, SMUBP2, ZFAND7
Name
(RefSeq) immunoglobulin mu DNA binding protein 2
KO
K19036
ATP-dependent RNA/DNA helicase IGHMBP2 [EC:
5.6.2.5
5.6.2.3
]
Organism
hsa
Homo sapiens (human)
Disease
H00264
Charcot-Marie-Tooth disease
H00856
Distal hereditary motor neuropathies
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09182 Protein families: genetic information processing
03009 Ribosome biogenesis [BR:
hsa03009
]
3508 (IGHMBP2)
03012 Translation factors [BR:
hsa03012
]
3508 (IGHMBP2)
Enzymes [BR:
hsa01000
]
5. Isomerases
5.6 Isomerases altering macromolecular conformation
5.6.2 Enzymes altering nucleic acid conformation
5.6.2.3 DNA 5'-3' helicase
3508 (IGHMBP2)
5.6.2.5 RNA 5'-3' helicase
3508 (IGHMBP2)
Ribosome biogenesis [BR:
hsa03009
]
Eukaryotic type
Other ribosome biogenesis factors
3508 (IGHMBP2)
Translation factors [BR:
hsa03012
]
Eukaryotic type
Initiation factors
Initiation associated factors
3508 (IGHMBP2)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
AAA_11
AAA_12
SMUBP-2_HCS1_1B
R3H
AAA_30
AAA_19
zf-AN1
ResIII
Viral_helicase1
nSTAND3
DEAD
AAA_16
Helicase_RecD
AAA_22
IstB_IS21
UvrD-helicase
SLFN-g3_helicase
PhoH
DnaB_C
Flavi_DEAD
Ada3
AAA_25
AAA
Zot
NPHP3_N
UvrD_C_2
NTPase_1
DAP3
VWA_2
ATPase
Motif
Other DBs
NCBI-GeneID:
3508
NCBI-ProteinID:
NP_002171
OMIM:
600502
HGNC:
5542
Ensembl:
ENSG00000132740
UniProt:
P38935
Structure
PDB
PDBj
LinkDB
All DBs
Position
11:68903891..68940601
Genome browser
AA seq
993 aa
AA seq
DB search
MASAAVESFVTKQLDLLELERDAEVEERRSWQENISLKELQSRGVCLLKLQVSSQRTGLY
GRLLVTFEPRRYGSAAALPSNSFTSGDIVGLYDAANEGSQLATGILTRVTQKSVTVAFDE
SHDFQLSLDRENSYRLLKLANDVTYRRLKKALIALKKYHSGPASSLIEVLFGRSAPSPAS
EIHPLTFFNTCLDTSQKEAVLFALSQKELAIIHGPPGTGKTTTVVEIILQAVKQGLKVLC
CAPSNIAVDNLVERLALCKQRILRLGHPARLLESIQQHSLDAVLARSDSAQIVADIRKDI
DQVFVKNKKTQDKREKSNFRNEIKLLRKELKEREEAAMLESLTSANVVLATNTGASADGP
LKLLPESYFDVVVIDECAQALEASCWIPLLKARKCILAGDHKQLPPTTVSHKAALAGLSL
SLMERLAEEYGARVVRTLTVQYRMHQAIMRWASDTMYLGQLTAHSSVARHLLRDLPGVAA
TEETGVPLLLVDTAGCGLFELEEEDEQSKGNPGEVRLVSLHIQALVDAGVPARDIAVVSP
YNLQVDLLRQSLVHRHPELEIKSVDGFQGREKEAVILSFVRSNRKGEVGFLAEDRRINVA
VTRARRHVAVICDSRTVNNHAFLKTLVEYFTQHGEVRTAFEYLDDIVPENYSHENSQGSS
HAATKPQGPATSTRTGSQRQEGGQEAAAPARQGRKKPAGKSLASEAPSQPSLNGGSPEGV
ESQDGVDHFRAMIVEFMASKKMQLEFPPSLNSHDRLRVHQIAEEHGLRHDSSGEGKRRFI
TVSKRAPRPRAALGPPAGTGGPAPLQPVPPTPAQTEQPPREQRGPDQPDLRTLHLERLQR
VRSAQGQPASKEQQASGQQKLPEKKKKKAKGHPATDLPTEEDFEALVSAAVKADNTCGFA
KCTAGVTTLGQFCQLCSRRYCLSHHLPEIHGCGERARAHARQRISREGVLYAGSGTKNGS
LDPAKRAQLQRRLDKKLSELSNQRTSRRKERGT
NT seq
2982 nt
NT seq
+upstream
nt +downstream
nt
atggcctcggcagctgtggagagcttcgtgaccaagcaactggacctgctggagcttgag
agagacgcggaggtggaggagcgcaggtcctggcaggagaacatctctctgaaagagctc
cagagccgaggcgtgtgtttgctgaagctgcaggtatccagccagcgcactgggctgtac
ggacggctgctggtcacctttgagcccaggcgatacgggtccgcggcagctcttcccagt
aacagctttacttctggtgatatcgtgggcctgtacgatgctgctaatgagggcagtcag
ctggccactgggatcttgacccgggtcacccagaagtcggtcacggtggcctttgatgag
tcccacgatttccagttgagcttggaccgagagaattcctacagactgttaaaacttgcc
aatgatgtcacttacaggcgactgaaaaaagccctgattgctctaaagaagtatcattct
ggcccagcctcctcactcatagaagtgctctttggcagatctgctcccagtcctgccagt
gaaatacacccgctgacattcttcaacacctgcctggacacctcccagaaagaagcggtt
ttatttgcgctgtctcagaaagaacttgccatcatccatggacctcctggcactgggaaa
accacgactgtggttgagatcattcttcaagctgtgaaacaaggcttaaaggttctgtgc
tgcgccccctccaacatcgccgtggacaatctggtggagcgcctggctctgtgtaagcag
cggattctgcgcctgggacaccctgcccgcctcctggagtccattcagcagcactccctg
gatgcggttttagcgcggagcgacagtgcccagattgttgcagatatcaggaaggacatc
gaccaggtctttgtgaaaaacaaaaagacccaggataagagagagaaaagtaattttcga
aatgaaattaagctgttaagaaaagaactgaaggagagggaagaagcagctatgctcgag
agcctcacttcggcaaacgtggtccttgcaacaaacacaggtgcgtctgccgatggcccc
ctgaagttgctgcccgagagctacttcgacgtggtggtcattgacgagtgtgcccaggcc
ctcgaggcgagctgctggatccccctgctgaaggccagaaagtgcatcctggcgggcgat
cacaagcagctgccccccaccacagtctctcacaaggctgcgctggcaggactgtcactc
agcctgatggaacgcctggctgaggagtacggcgcgagggtggtgcggacactgacggtg
cagtaccgcatgcaccaggctatcatgcgctgggcctcagacaccatgtaccttgggcag
ctcacagcccactcttccgtggcaaggcacctcctgagggacctcccaggtgtggctgcc
acagaagagacgggtgtgcccctgctcttggtggacaccgccggctgcgggctgtttgag
ctggaggaggaggacgaacagtcgaaagggaaccctggcgaagtccgcctcgtcagtttg
cacatccaggctctggtggacgctggtgttccagcccgtgacattgctgtggtctcgcca
tacaacctccaggtggacctgctcagacagagccttgtgcacaggcaccctgagcttgaa
atcaagtctgtcgatggcttccaaggccgagagaaggaggccgtgatactgtccttcgtc
agatccaacaggaaaggtgaagttggttttcttgctgaggaccggaggatcaacgtggct
gtcacccgtgcccgacgccacgtggcggtcatctgtgactcccgtactgtcaacaaccat
gcatttttgaagaccctggtggagtatttcacacagcatggggaagtacgcacggccttt
gagtatcttgacgatattgtcccagaaaactattcccatgagaactcccagggttccagc
cacgctgccaccaagccccagggacctgctacgtccaccaggaccggaagccagcggcag
gagggaggccaggaggctgcagcacctgccagacagggccggaagaagccggctgggaag
tctctggcctctgaagctccatctcagcccagcctcaacggaggcagcccagagggagtg
gagagccaagatggcgtggaccacttccgggccatgatagtggagttcatggccagcaag
aagatgcagttggagtttcctccttccctcaattcccacgacaggctgcgggtccaccaa
atagccgaggagcacgggctgaggcacgacagttccggggaagggaagaggaggttcatc
actgtgagcaagagggccccgcgaccccgagcagccctgggacccccagcagggaccggt
ggcccagcccctctccagccagtgccccctacccctgcgcagacagagcagcctcccagg
gagcagcgtggcccagaccagcctgatctgaggacgctgcacctggagagactgcagagg
gtcaggagcgcgcaggggcagcccgccagcaaggagcagcaggcctcagggcagcagaaa
cttccagaaaagaaaaagaaaaaagccaaaggacatccggccacagatctgcccacggag
gaggactttgaggccctggtttctgccgccgttaaggctgataacacctgcggctttgcc
aagtgcacagccggcgtcacaaccctgggccagttctgccagctctgcagccgccgctac
tgcctcagccaccacctgcccgagatccatggctgcggtgagagggctcgcgcccatgcc
cggcagagaatcagccgggaaggggtcctctatgccggcagcgggaccaagaacggatcc
ctggacccagccaagagggcccagctgcagaggaggctggataagaagctgagtgagctc
agcaaccagaggaccagccggaggaaggagagggggacgtga
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