KEGG   Homo sapiens (human): 3508Help
Entry
3508              CDS       T01001                                 

Gene name
IGHMBP2, CATF1, CMT2S, HCSA, HMN6, SMARD1, SMUBP2, ZFAND7
Definition
(RefSeq) immunoglobulin mu binding protein 2
  KO
K19036  ATP-dependent RNA/DNA helicase IGHMBP2 [EC:3.6.4.12 3.6.4.13]
Organism
hsa  Homo sapiens (human)
Disease
H00264  Charcot-Marie-Tooth disease (CMT)
H00856  Distal hereditary motor neuropathies (dHMN)
Brite
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.6  Acting on acid anhydrides
   3.6.4  Acting on acid anhydrides to facilitate cellular and subcellular movement
    3.6.4.12  DNA helicase
     3508 (IGHMBP2)
    3.6.4.13  RNA 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 OrthologParalogGFIT
Motif
Pfam: AAA_11 AAA_12 AAA_30 R3H AAA_19 Viral_helicase1 zf-AN1 ResIII Helicase_RecD DEAD AAA_22 AAA_16 IstB_IS21 UvrD-helicase DUF2075 AAA_25 AAA PhoH Flavi_DEAD DnaB_C Zot UvrD_C_2 Ada3 T2SSE AAA_33 ABC_tran NTPase_1 ATPase
Motif
Other DBs
NCBI-GeneID: 3508
NCBI-ProteinID: NP_002171
OMIM: 600502
HGNC: 5542
Ensembl: ENSG00000132740
Vega: OTTHUMG00000167894
Pharos: P38935(Tbio)
UniProt: P38935
Structure
PDB: 

Jmol
Position
11q13.3
AA seq 993 aa AA seqDB search
MASAAVESFVTKQLDLLELERDAEVEERRSWQENISLKELQSRGVCLLKLQVSSQRTGLY
GRLLVTFEPRRYGSAAALPSNSFTSGDIVGLYDAANEGSQLATGILTRVTQKSVTVAFDE
SHDFQLSLDRENSYRLLKLANDVTYRRLKKALIALKKYHSGPASSLIEVLFGRSAPSPAS
EIHPLTFFNTCLDTSQKEAVLFALSQKELAIIHGPPGTGKTTTVVEIILQAVKQGLKVLC
CAPSNIAVDNLVERLALCKQRILRLGHPARLLESIQQHSLDAVLARSDSAQIVADIRKDI
DQVFVKNKKTQDKREKSNFRNEIKLLRKELKEREEAAMLESLTSANVVLATNTGASADGP
LKLLPESYFDVVVIDECAQALEASCWIPLLKARKCILAGDHKQLPPTTVSHKAALAGLSL
SLMERLAEEYGARVVRTLTVQYRMHQAIMRWASDTMYLGQLTAHSSVARHLLRDLPGVAA
TEETGVPLLLVDTAGCGLFELEEEDEQSKGNPGEVRLVSLHIQALVDAGVPARDIAVVSP
YNLQVDLLRQSLVHRHPELEIKSVDGFQGREKEAVILSFVRSNRKGEVGFLAEDRRINVA
VTRARRHVAVICDSRTVNNHAFLKTLVEYFTQHGEVRTAFEYLDDIVPENYSHENSQGSS
HAATKPQGPATSTRTGSQRQEGGQEAAAPARQGRKKPAGKSLASEAPSQPSLNGGSPEGV
ESQDGVDHFRAMIVEFMASKKMQLEFPPSLNSHDRLRVHQIAEEHGLRHDSSGEGKRRFI
TVSKRAPRPRAALGPPAGTGGPAPLQPVPPTPAQTEQPPREQRGPDQPDLRTLHLERLQR
VRSAQGQPASKEQQASGQQKLPEKKKKKAKGHPATDLPTEEDFEALVSAAVKADNTCGFA
KCTAGVTTLGQFCQLCSRRYCLSHHLPEIHGCGERARAHARQRISREGVLYAGSGTKNGS
LDPAKRAQLQRRLDKKLSELSNQRTSRRKERGT
NT seq 2982 nt NT seq  +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

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