InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: IGHMBP2

Summary

InnateDB Protein

IDBP-61680.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

IGHMBP2

Protein Name

immunoglobulin mu binding protein 2

Synonyms

CATF1; HCSA; HMN6; SMARD1; SMUBP2; ZFAND7;

Species

Homo sapiens

Ensembl Protein

ENSP00000255078

InnateDB Gene

IDBG-61678 (IGHMBP2)

Protein Structure

UniProt Annotation

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. {ECO:0000250, ECO:0000269PubMed:19158098, ECO:0000269PubMed:19299493}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:19299493}. Cytoplasm {ECO:0000269PubMed:19299493}. Cell projection, axon {ECO:0000250}. Note=Colocalizes with the translation initiation factor EIF4G2. {ECO:0000250}.

Disease Associations

Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]: A neuromuscular disorder. Distal hereditary motor neuronopathies constitute 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:0000269PubMed:11528396, ECO:0000269PubMed:14681881, ECO:0000269PubMed:15108294, ECO:0000269PubMed:15797190, ECO:0000269PubMed:17431882, ECO:0000269PubMed:18802676}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in all tissues examined.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	9 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000049	tRNA binding
GO:0003676	nucleic acid binding
GO:0003677	DNA binding
GO:0003678	DNA helicase activity
GO:0003697	single-stranded DNA binding
GO:0003723	RNA binding
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008094	DNA-dependent ATPase activity
GO:0008134	transcription factor binding
GO:0008186	RNA-dependent ATPase activity
GO:0008270	zinc ion binding
GO:0016787	hydrolase activity
GO:0032575	ATP-dependent 5'-3' RNA helicase activity
GO:0043022	ribosome binding
GO:0043141	ATP-dependent 5'-3' DNA helicase activity

Biological Process

GO:0006200	ATP catabolic process
GO:0006260	DNA replication
GO:0006281	DNA repair
GO:0006310	DNA recombination
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0006412	translation
GO:0008219	cell death
GO:0032508	DNA duplex unwinding
GO:0051260	protein homooligomerization

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0016020	membrane
GO:0030424	axon
GO:0030426	growth cone
GO:0030529	ribonucleoprotein complex
GO:0032797	SMN complex

Protein Structure and Domains

PDB ID

InterPro

IPR000058 Zinc finger, AN1-type
IPR001374 Single-stranded nucleic acid binding R3H
IPR003593 AAA+ ATPase domain
IPR004483 Helicase SMUBP-2/Hcs1-like
IPR006935 Helicase/UvrB domain
IPR014001 Helicase, superfamily 1/2, ATP-binding domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF01428
PF01424
PF04851

PRINTS

PIRSF

SMART

SM00154
SM00393
SM00382
SM00487

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P38935