Sbf1 SET binding factor 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sbf1provided by MGI
Official Full Name: SET binding factor 1provided by MGI
Primary source: MGI:MGI:1925230
See related: Ensembl:ENSMUSG00000036529 AllianceGenome:MGI:1925230
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Mtmr5; mKIAA3020; 2610510A08Rik; B230113C15Rik
Summary: Predicted to enable guanyl-nucleotide exchange factor activity. Acts upstream of or within spermatogenesis. Predicted to be located in nuclear body. Predicted to be active in cytoplasm and membrane. Is expressed in craniocervical region bone; nervous system; and neural retina. Used to study Charcot-Marie-Tooth disease type 4B3. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4B3. Orthologous to human SBF1 (SET binding factor 1). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in thymus adult (RPKM 86.7), spleen adult (RPKM 48.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 E3; 15 44.79 cM

Exon count:: 42

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (89171138..89199514, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (89288236..89315311, complement)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Distinct roles for the Charcot-Marie-Tooth disease-causing endosomal regulators Mtmr5 and Mtmr13 in axon radial sorting and Schwann cell myelination.
Title: Distinct roles for the Charcot-Marie-Tooth disease-causing endosomal regulators Mtmr5 and Mtmr13 in axon radial sorting and Schwann cell myelination.
expressed at high levels in seminiferous tubules of the testis; mice that are nullizygous for Sbf1 exhibit male infertility characterized by azoospermia.
Title: Male infertility, impaired spermatogenesis, and azoospermia in mice deficient for the pseudophosphatase Sbf1.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables guanyl-nucleotide exchange factor activity	IEA Inferred from Electronic Annotation more info
enables guanyl-nucleotide exchange factor activity	ISO Inferred from Sequence Orthology more info
enables pseudophosphatase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within regulation of cell growth	TAS Traceable Author Statement more info	PubMed
involved_in spermatid development	IEA Inferred from Electronic Annotation more info
involved_in spermatid development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in neuron projection	IEA Inferred from Electronic Annotation more info
located_in nuclear body	IEA Inferred from Electronic Annotation more info
located_in nuclear body	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: myotubularin-related protein 5

Names: inactive phosphatidylinositol 3-phosphatase 5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001081030.2 → NP_001074499.2 myotubularin-related protein 5 isoform 2

See identical proteins and their annotated locations for NP_001074499.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.

Source sequence(s)

AC160538

Consensus CDS

CCDS37175.2

UniProtKB/Swiss-Prot

B2RXQ1, B2RXX4, B7ZWK2, Q4QQM2, Q6ZPE2, Q8BK68, Q8K2Z0

Related

ENSMUSP00000120725.2, ENSMUST00000123791.8

Conserved Domains (8) summary

smart00801
Location:364 → 432

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

smart00799
Location:129 → 310

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

smart00800
Location:1 → 86

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

cd01235
Location:1760 → 1865

PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain

pfam00169
Location:1764 → 1865

PH; PH domain

pfam06602
Location:1128 → 1530

Myotub-related; Myotubularin-like phosphatase domain

pfam12335
Location:543 → 764

SBF2; Myotubularin protein

cl17171
Location:893 → 1011

PH-like; Pleckstrin homology-like domain
NM_001170561.1 → NP_001164032.1 myotubularin-related protein 5 isoform 1

See identical proteins and their annotated locations for NP_001164032.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC160538

Consensus CDS

CCDS49699.1

UniProtKB/Swiss-Prot

Q6ZPE2

Related

ENSMUSP00000118107.3, ENSMUST00000144585.9

Conserved Domains (8) summary

smart00801
Location:364 → 432

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

smart00799
Location:129 → 310

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

smart00800
Location:1 → 86

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

cd01235
Location:1786 → 1891

PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain

pfam00169
Location:1790 → 1891

PH; PH domain

pfam06602
Location:1128 → 1556

Myotub-related; Myotubularin-like phosphatase domain

pfam12335
Location:543 → 764

SBF2; Myotubularin protein

cl17171
Location:893 → 1011

PH-like; Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000081.7 Reference GRCm39 C57BL/6J

Range

89171138..89199514 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006521539.3 → XP_006521602.1 myotubularin-related protein 5 isoform X2

Conserved Domains (7) summary

smart00801
Location:372 → 440

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

smart00799
Location:129 → 318

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

smart00800
Location:1 → 86

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

cd01235
Location:1768 → 1873

PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain

pfam12335
Location:551 → 772

SBF2; Myotubularin protein

cl17171
Location:901 → 1019

PH-like; Pleckstrin homology-like domain

cl28904
Location:1158 → 1504

PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
XM_006521538.3 → XP_006521601.1 myotubularin-related protein 5 isoform X1

Conserved Domains (7) summary

smart00801
Location:372 → 440

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

smart00799
Location:129 → 318

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

smart00800
Location:1 → 86

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

cd01235
Location:1794 → 1899

PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain

pfam12335
Location:551 → 772

SBF2; Myotubularin protein

cl17171
Location:901 → 1019

PH-like; Pleckstrin homology-like domain

cl28904
Location:1158 → 1530

PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
XM_030248818.2 → XP_030104678.1 myotubularin-related protein 5 isoform X3

Conserved Domains (5) summary

smart00801
Location:28 → 96

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

cd01235
Location:1450 → 1555

PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain

pfam12335
Location:207 → 428

SBF2; Myotubularin protein

cl17171
Location:557 → 675

PH-like; Pleckstrin homology-like domain

cl28904
Location:814 → 1186

PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_030019.1: Suppressed sequence

Description

NM_030019.1: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.