Mcf2l mcf.2 transforming sequence-like [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mcf2lprovided by MGI
Official Full Name: mcf.2 transforming sequence-likeprovided by MGI
Primary source: MGI:MGI:103263
See related: Ensembl:ENSMUSG00000031442 AllianceGenome:MGI:103263
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: Dbs; Ost; mKIAA0362; C130040G20Rik
Summary: Enables 1-phosphatidylinositol binding activity and guanyl-nucleotide exchange factor activity. Acts upstream of or within Rho protein signal transduction and positive regulation of transcription by RNA polymerase II. Located in lamellipodium and membrane. Is expressed in nervous system and retina. Orthologous to human MCF2L (MCF.2 cell line derived transforming sequence like). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in CNS E18 (RPKM 14.7), frontal lobe adult (RPKM 13.1) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 A1.1; 8 5.73 cM

Exon count:: 37

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (12923806..13070502)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (12873806..13020502)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

miR-140-3p exhibits repressive functions on preosteoblast viability and differentiation by downregulating MCF2L in osteoporosis.
Title: miR-140-3p exhibits repressive functions on preosteoblast viability and differentiation by downregulating MCF2L in osteoporosis.
Crystal structure of the DH/PH fragment of Dbs without bound GTPase
Title: Crystal structure of the DH/PH fragment of Dbs without bound GTPase.
Dbs has the potential to promote proliferation of immature thymocytes, but also sensitizes immature thymocytes to deletion.
Title: The RhoA- and CDC42-specific exchange factor Dbs promotes expansion of immature thymocytes and deletion of double-positive and single-positive thymocytes.
Dbs is activated by Rac1 at the pleckstrin homology domain
Title: Pleckstrin homology domain-mediated activation of the rho-specific guanine nucleotide exchange factor Dbs by Rac1.
the Sec14 domain regulates Dbs transformation through at least two distinct mechanisms, neither of which appears to directly influence the in vivo exchange activity of the protein
Title: The Sec14 homology domain regulates the cellular distribution and transforming activity of the Rho-specific guanine nucleotide exchange factor Dbs.
the PH domain of Dbs has two roles in the regulation of DH domain function, one for GTPase association and activation in vitro and one for phosphoinositide binding and GTPase interaction in vivo, that together promote Dbs association with membranes.
Title: Critical role of the pleckstrin homology domain in Dbs signaling and growth regulation.
the PH domain of Dbs has a role in regulating Rho GTPase activation
Title: Multifunctional roles for the PH domain of Dbs in regulating Rho GTPase activation.
Dbs transformation is associated with increased phosphorylation of myosin light chain and stress fiber formation, both of which occur in a ROCK-dependent manner
Title: Transformation by the Rho-specific guanine nucleotide exchange factor Dbs requires ROCK I-mediated phosphorylation of myosin light chain.

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Variation

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Alleles

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

Gene trapped (1)
Targeted (1)
Endonuclease-mediated (2)

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 1-phosphatidylinositol binding	IDA Inferred from Direct Assay more info	PubMed
enables guanyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables guanyl-nucleotide exchange factor activity	IDA Inferred from Direct Assay more info	PubMed
enables guanyl-nucleotide exchange factor activity	ISO Inferred from Sequence Orthology more info
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within Rho protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular signal transduction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of Rho protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of Rho protein signal transduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction 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
located_in endomembrane system	ISO Inferred from Sequence Orthology more info
located_in extrinsic component of cytoplasmic side of plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in extrinsic component of membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in lamellipodium	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: guanine nucleotide exchange factor DBS

Names: DBL's big sister; MCF2-transforming sequence-like protein; Ost gamma; exchange factor for RhoA and Cdc42; guanine nucleotide exchange factor OSTIII

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_001159485.2 → NP_001152957.1 guanine nucleotide exchange factor DBS isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and 5' and 3' coding regions, compared to variant 1, resulting in an isoform (3) that has distinct N- and C-termini and is shorter than isoform 1.

Source sequence(s)

AC127308

Consensus CDS

CCDS52483.1

UniProtKB/TrEMBL

E9PY13, Q003U3

Related

ENSMUSP00000106490.3, ENSMUST00000110866.9

Conserved Domains (6) summary

cd11857
Location:1007 → 1061

SH3_DBS; Src homology 3 domain of DBL's Big Sister (DBS), a guanine nucleotide exchange factor

smart00516
Location:24 → 169

SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)

cd00160
Location:581 → 758

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd00176
Location:300 → 502

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cd01227
Location:765 → 896

PH_Dbs; DBL's big sister protein pleckstrin homology (PH) domain

pfam00169
Location:779 → 893

PH; PH domain
NM_001159486.2 → NP_001152958.1 guanine nucleotide exchange factor DBS isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, and lacks two alternate in-frame exons in the 3' coding region, compared to variant 1, resulting in an isoform (2) that has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AC127308

Consensus CDS

CCDS52482.1

UniProtKB/TrEMBL

E9PY12, Q003U3

Related

ENSMUSP00000106491.3, ENSMUST00000110867.9

Conserved Domains (6) summary

cd11857
Location:1007 → 1061

SH3_DBS; Src homology 3 domain of DBL's Big Sister (DBS), a guanine nucleotide exchange factor

smart00516
Location:24 → 169

SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)

cd00160
Location:581 → 758

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd00176
Location:300 → 502

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cd01227
Location:765 → 896

PH_Dbs; DBL's big sister protein pleckstrin homology (PH) domain

pfam00169
Location:779 → 893

PH; PH domain
NM_001371043.1 → NP_001357972.1 guanine nucleotide exchange factor DBS isoform 4

Status: VALIDATED

Source sequence(s)

AC127308, AC134581

Consensus CDS

CCDS90372.1

UniProtKB/Swiss-Prot

E9PV70, Q64096

UniProtKB/TrEMBL

E9QPM7

Related

ENSMUSP00000093108.4, ENSMUST00000095456.10

Conserved Domains (5) summary

cd11857
Location:1059 → 1113

SH3_DBS; Src homology 3 domain of DBL's Big Sister (DBS), a guanine nucleotide exchange factor

smart00516
Location:76 → 221

SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)

cd00160
Location:633 → 810

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd00176
Location:352 → 554

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cd01227
Location:817 → 948

PH_Dbs; DBL's big sister protein pleckstrin homology (PH) domain
NM_001371044.1 → NP_001357973.1 guanine nucleotide exchange factor DBS isoform 5

Status: VALIDATED

Source sequence(s)

AC127308

UniProtKB/TrEMBL

E9PXE1

Related

ENSMUSP00000106503.3, ENSMUST00000110879.9

Conserved Domains (5) summary

cd11857
Location:1054 → 1108

SH3_DBS; Src homology 3 domain of DBL's Big Sister (DBS), a guanine nucleotide exchange factor

smart00516
Location:46 → 191

SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)

cd00160
Location:603 → 780

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd00176
Location:322 → 524

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cd01227
Location:787 → 918

PH_Dbs; DBL's big sister protein pleckstrin homology (PH) domain
NM_001371045.1 → NP_001357974.1 guanine nucleotide exchange factor DBS isoform 6

Status: VALIDATED

Source sequence(s)

AC127308

UniProtKB/TrEMBL

Q003U3

Related

ENSMUSP00000106495.2, ENSMUST00000110871.8

Conserved Domains (5) summary

cd11857
Location:1027 → 1081

SH3_DBS; Src homology 3 domain of DBL's Big Sister (DBS), a guanine nucleotide exchange factor

smart00516
Location:44 → 189

SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)

cd00160
Location:601 → 778

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd00176
Location:320 → 522

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cd01227
Location:785 → 916

PH_Dbs; DBL's big sister protein pleckstrin homology (PH) domain
NM_001371046.1 → NP_001357975.1 guanine nucleotide exchange factor DBS isoform 7

Status: VALIDATED

Source sequence(s)

AC127308

UniProtKB/TrEMBL

E9PXE1

Conserved Domains (5) summary

cd11857
Location:1025 → 1079

SH3_DBS; Src homology 3 domain of DBL's Big Sister (DBS), a guanine nucleotide exchange factor

smart00516
Location:17 → 162

SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)

cd00160
Location:574 → 751

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd00176
Location:293 → 495

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cd01227
Location:758 → 889

PH_Dbs; DBL's big sister protein pleckstrin homology (PH) domain
NM_001371047.1 → NP_001357976.1 guanine nucleotide exchange factor DBS isoform 8

Status: VALIDATED

Source sequence(s)

AC127308

UniProtKB/TrEMBL

Q6PDM6

Conserved Domains (5) summary

cd11857
Location:1054 → 1108

SH3_DBS; Src homology 3 domain of DBL's Big Sister (DBS), a guanine nucleotide exchange factor

smart00516
Location:46 → 191

SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)

cd00160
Location:603 → 780

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd00176
Location:322 → 524

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cd01227
Location:787 → 918

PH_Dbs; DBL's big sister protein pleckstrin homology (PH) domain
NM_001371048.1 → NP_001357977.1 guanine nucleotide exchange factor DBS isoform 9

Status: VALIDATED

Source sequence(s)

AC127308

UniProtKB/TrEMBL

Q6PDM6

Conserved Domains (5) summary

cd11857
Location:1083 → 1137

SH3_DBS; Src homology 3 domain of DBL's Big Sister (DBS), a guanine nucleotide exchange factor

smart00516
Location:44 → 189

SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)

cd00160
Location:601 → 778

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd00176
Location:320 → 522

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cd01227
Location:785 → 916

PH_Dbs; DBL's big sister protein pleckstrin homology (PH) domain
NM_001371049.1 → NP_001357978.1 guanine nucleotide exchange factor DBS isoform 10

Status: VALIDATED

Description

Transcript Variant: This variant (10) encodes the longest isoform (10).

Source sequence(s)

AC127308

UniProtKB/TrEMBL

E9PXE1

Related

ENSMUSP00000133577.2, ENSMUST00000145067.8

Conserved Domains (5) summary

cd11857
Location:1082 → 1136

SH3_DBS; Src homology 3 domain of DBL's Big Sister (DBS), a guanine nucleotide exchange factor

smart00516
Location:46 → 191

SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)

cd00160
Location:603 → 780

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd00176
Location:322 → 524

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cd01227
Location:787 → 918

PH_Dbs; DBL's big sister protein pleckstrin homology (PH) domain
NM_001371050.1 → NP_001357979.1 guanine nucleotide exchange factor DBS isoform 11

Status: VALIDATED

Source sequence(s)

AC127308

UniProtKB/TrEMBL

Q003U3

Related

ENSMUSP00000096528.4, ENSMUST00000098927.10

Conserved Domains (5) summary

cd11857
Location:1033 → 1087

SH3_DBS; Src homology 3 domain of DBL's Big Sister (DBS), a guanine nucleotide exchange factor

smart00516
Location:50 → 195

SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)

cd00160
Location:607 → 784

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd00176
Location:326 → 528

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cd01227
Location:791 → 922

PH_Dbs; DBL's big sister protein pleckstrin homology (PH) domain
NM_178076.4 → NP_835177.2 guanine nucleotide exchange factor DBS isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AC127308

Consensus CDS

CCDS40225.2

UniProtKB/TrEMBL

E9PXE2, Q6PDM6

Related

ENSMUSP00000106500.3, ENSMUST00000110876.9

Conserved Domains (6) summary

cd11857
Location:1085 → 1139

SH3_DBS; Src homology 3 domain of DBL's Big Sister (DBS), a guanine nucleotide exchange factor

smart00516
Location:46 → 191

SEC14; Domain in homologues of a S. cerevisiae phosphatidylinositol transfer protein (Sec14p)

cd00160
Location:603 → 780

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd00176
Location:322 → 524

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cd01227
Location:787 → 918

PH_Dbs; DBL's big sister protein pleckstrin homology (PH) domain

pfam00169
Location:801 → 915

PH; PH domain