mtm-5 Myotubularin-related protein 5 [Caenorhabditis elegans] - Gene

Summary

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Official Symbol: mtm-5
Official Full Name: Myotubularin-related protein 5
Primary source: WormBase:WBGene00003477
Locus tag: CELE_H28G03.6
See related: AllianceGenome:WB:WBGene00003477
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Caenorhabditis elegans (strain: Bristol N2)
Lineage: Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida; Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis
Summary: Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be active in cytoplasm and membrane. Is expressed in body wall musculature; intestine; and pharynx. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4B2 and Charcot-Marie-Tooth disease type 4B3. Orthologous to human SBF1 (SET binding factor 1) and SBF2 (SET binding factor 2). [provided by Alliance of Genome Resources, Dec 2024]
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Genomic context

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See mtm-5 in Genome Data Viewer

Location:: chromosome: X

Exon count:: 21

Sequence:: Chromosome: X; NC_003284.9 (5234669..5243408, complement)

Chromosome X - NC_003284.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:: NC_003284.9

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Pathways from PubChem

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General gene information

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Markers

H28G03.6 (e-PCR)
- UniSTS:311339

Homology

Orthologs from OrthoDB

Gene Ontology Provided by WormBase

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: Myotubularin-related protein 5

NP_508888.2

Confirmed by transcript evidence

NCBI Reference Sequences (RefSeq)

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Genome Annotation

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference assembly

Genomic

NC_003284.9 Reference assembly

Range

5234669..5243408 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_076487.4 → NP_508888.2 Myotubularin-related protein 5 [Caenorhabditis elegans]

See identical proteins and their annotated locations for NP_508888.2

Status: REVIEWED

UniProtKB/Swiss-Prot

Q9TXP3

Conserved Domains (9) summary

smart00801
Location:332 → 405

dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins

smart00799
Location:105 → 278

DENN; Domain found in a variety of signalling proteins, always encircled by uDENN and dDENN

smart00800
Location:9 → 92

uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins

cd13208
Location:798 → 923

PH-GRAM_MTMR5_MTMR13; Myotubularian (MTM) related 5 and 13 proteins (MTMR5 and MTMR13) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

pfam00169
Location:1648 → 1743

PH; PH domain

pfam12335
Location:504 → 708

SBF2; Myotubularin protein

cl00040
Location:1546 → 1585

C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

cl17171
Location:1648 → 1742

PH-like; Pleckstrin homology-like domain

cl21483
Location:1005 → 1383

PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...