KEGG   Homo sapiens (human): 3508
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)
SSDB
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 Flavi_DEAD Ada3 DnaB_C Zot AAA_25 AAA UvrD_C_2 NTPase_1 DAP3 VWA_2 ATPase
Other DBs
NCBI-GeneID: 3508
NCBI-ProteinID: NP_002171
OMIM: 600502
HGNC: 5542
Ensembl: ENSG00000132740
UniProt: P38935
Structure
Position
11:68903891..68940601
AA seq 993 aa
MASAAVESFVTKQLDLLELERDAEVEERRSWQENISLKELQSRGVCLLKLQVSSQRTGLY
GRLLVTFEPRRYGSAAALPSNSFTSGDIVGLYDAANEGSQLATGILTRVTQKSVTVAFDE
SHDFQLSLDRENSYRLLKLANDVTYRRLKKALIALKKYHSGPASSLIEVLFGRSAPSPAS
EIHPLTFFNTCLDTSQKEAVLFALSQKELAIIHGPPGTGKTTTVVEIILQAVKQGLKVLC
CAPSNIAVDNLVERLALCKQRILRLGHPARLLESIQQHSLDAVLARSDSAQIVADIRKDI
DQVFVKNKKTQDKREKSNFRNEIKLLRKELKEREEAAMLESLTSANVVLATNTGASADGP
LKLLPESYFDVVVIDECAQALEASCWIPLLKARKCILAGDHKQLPPTTVSHKAALAGLSL
SLMERLAEEYGARVVRTLTVQYRMHQAIMRWASDTMYLGQLTAHSSVARHLLRDLPGVAA
TEETGVPLLLVDTAGCGLFELEEEDEQSKGNPGEVRLVSLHIQALVDAGVPARDIAVVSP
YNLQVDLLRQSLVHRHPELEIKSVDGFQGREKEAVILSFVRSNRKGEVGFLAEDRRINVA
VTRARRHVAVICDSRTVNNHAFLKTLVEYFTQHGEVRTAFEYLDDIVPENYSHENSQGSS
HAATKPQGPATSTRTGSQRQEGGQEAAAPARQGRKKPAGKSLASEAPSQPSLNGGSPEGV
ESQDGVDHFRAMIVEFMASKKMQLEFPPSLNSHDRLRVHQIAEEHGLRHDSSGEGKRRFI
TVSKRAPRPRAALGPPAGTGGPAPLQPVPPTPAQTEQPPREQRGPDQPDLRTLHLERLQR
VRSAQGQPASKEQQASGQQKLPEKKKKKAKGHPATDLPTEEDFEALVSAAVKADNTCGFA
KCTAGVTTLGQFCQLCSRRYCLSHHLPEIHGCGERARAHARQRISREGVLYAGSGTKNGS
LDPAKRAQLQRRLDKKLSELSNQRTSRRKERGT
NT seq 2982 nt   +upstreamnt  +downstreamnt
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

  All links  
Ontology (4)   
   KEGG BRITE (4)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Chemical reaction (2)   
   KEGG ENZYME (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (29)   
   KEGG ORTHOLOGY (1)   
   RefGene (18)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (5)   
   OC (1)   
Protein sequence (15)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (13)   
DNA sequence (49)   
   RefSeq(nuc) (13)   
   GenBank (18)   
   EMBL (18)   
3D Structure (4)   
   PDB (4)   
Protein domain (29)   
   Pfam (29)   
All databases (138)   

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