Basic Information | Overview of PTM Sites | Experimental PTM Sites | Protein-Protein Interactions | Drug and Disease Associations | Related Literatures
Basic Information
Protein Name :  DNA-binding protein SMUBP-2  

UniProtKB / Swiss-Prot ID :  SMBP2_HUMAN

Gene Name (Synonyms) : 
IGHMBP2, SMBP2, SMUBP2  

Species :  Homo sapiens (Human). 

Subcellular Localization :  Nucleus. Cytoplasm. Cell projection, axon (By similarity). Note=Colocalizes with the traslation initiation factor EIF4G2 (By similarity). 

Protein Function :  5' to 3' helicase that unwinds RNA and DNA duplices in an ATP-dependent reaction. Acts as a transcription regulator. Required for the transcriptional activation of the flounder liver- type antifreeze protein gene. Exhibits strong binding specificity to the enhancer element B of the flounder antifreeze protein gene intron. Binds to the insulin II gene RIPE3B enhancer region. May be involved in translation (By similarity). DNA-binding protein specific to 5'-phosphorylated single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region. Preferentially binds to the 5'-GGGCT-3' motif. Interacts with tRNA-Tyr. Stimulates the transcription of the human neurotropic virus JCV. 

Protein Sequence MASAAVESFVTKQLDLLELERDAEVEERRSWQENISLKELQSRGVCLLKLQVSSQRTGLYGRLLVTFEPR...
Predicted Secondary Structure CCHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCEEHHEEEEEEEEEEEECCCC...
Protein Variant
LocationDescription
17L -> P (in HMN6). VAR_058497
75A -> T (in dbSNP:rs2228206). VAR_055225
192L -> P (in HMN6). VAR_022321
196Q -> R (in HMN6; severe reduction ofATPase activity and loss of helicase
201L -> S (in dbSNP:rs560096). VAR_024242
213H -> R (in HMN6). VAR_022322
216P -> L (in HMN6). VAR_058499
221T -> A (in HMN6; severe reduction ofATPase activity and loss of helicase
241C -> R (in HMN6; severe reduction ofATPase activity and loss of helicase
251L -> P (in HMN6). VAR_058500
275I -> V (in dbSNP:rs10896380). VAR_024243
334E -> K (in HMN6). VAR_022325
361L -> P (in HMN6). VAR_022326
364L -> P (in HMN6). VAR_022327
382E -> K (in HMN6; severe reduction ofATPase activity and loss of helicase
386W -> R (in HMN6). VAR_058501
426L -> P (in HMN6). VAR_022329
445H -> P (in HMN6; severe reduction ofATPase activity and loss of helicase
472L -> P (in HMN6). VAR_058503
493T -> I (in HMN6; does not affectactivity; reduces protein steady-state
514E -> K (in HMN6). VAR_022330
557P -> A (in dbSNP:rs7122089). VAR_055226
565D -> N (in HMN6; does not affect ATPaseactivity; loss of helicase activity on
572Missing (in HMN6). VAR_022332
577L -> P (in HMN6). VAR_022333
580V -> I (in HMN6). VAR_022334
581R -> S (in HMN6). VAR_058505
583N -> I (in HMN6; severe reduction ofATPase activity and loss of helicase
586G -> C (in HMN6). VAR_022336
603R -> C (in HMN6). VAR_058506
603R -> H (in HMN6; severe reduction ofATPase activity and loss of helicase
637R -> C (in HMN6). VAR_022338
671T -> A (in dbSNP:rs622082). VAR_020147
694R -> W (in dbSNP:rs2236654). VAR_021899
879T -> K (in HMN6; dbSNP:rs17612126). VAR_022339
928E -> K (in dbSNP:rs2275996). VAR_021900
974D -> E (in HMN6). VAR_022340
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Overview of Protein Modification Sites with Functional and Structural Information
Accessible Surface Area (ASA)
Pred. Secondary
Real Secondary
Disorder Prediction
Protein Domain
&
Experimental PTM Sites
Predicted PTM Sites
Protein Variant
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Experimental Post-Translational Modification Sites Download
Locations
Modification
Substrate Sites
&
Secondary Structure
Accessible Surface Area (%)
Resource
Reference
Structural Characterization
Orthologous
Protein Cluster
2N-acetylalanine.---MASAAV
---CCHHHH
14.10UniProtKB
Link-
656PhosphoserineSHENSQGSS
CCCCCCCCC
32.69HPRD
Link-
656PhosphoserineSHENSQGSS
CCCCCCCCC
32.69PhosphoELM
Link-
656PhosphoserineSHENSQGSS
CCCCCCCCC
32.69Phosphositeplus
Link-
656Phosphoserine.SHENSQGSS
CCCCCCCCC
32.69UniProtKB
Link-
716PhosphoserineLNGGSPEGV
CCCCCCCCC
22.60HPRD
Link-
716PhosphoserineLNGGSPEGV
CCCCCCCCC
22.60Phosphositeplus
Link-
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Protein-Protein Interactions
      Interacting Protein      
Interaction type
Source ID
      Resource      
      Pubmed ID      
Domain-Domain Interactions
There are no Protein-Protein Interactions.
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Disease Reference
Kegg disease
OMIM disease
604320Neuronopathy, distal hereditary motor, 6 (HMN6)
616155Charcot-Marie-Tooth disease 2S (CMT2S)
Drug Reference
There are no disease associations of PTM sites.
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Related Literatures of Post-Translational Modification
Phosphorylation
ReferencePubMed
"ATM and ATR substrate analysis reveals extensive protein networksresponsive to DNA damage.";
Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III,Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N.,Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.;
Science 316:1160-1166(2007).
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-656, AND MASSSPECTROMETRY.
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Basic Information | Overview of PTM Sites | Experimental PTM Sites | Protein-Protein Interactions | Drug and Disease Associations | Related Literatures