Fermt1 fermitin family member 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fermt1provided by MGI
Official Full Name: fermitin family member 1provided by MGI
Primary source: MGI:MGI:2443583
See related: Ensembl:ENSMUSG00000027356 AllianceGenome:MGI:2443583
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: Kindlin-1; 5830467P10Rik
Summary: Enables actin filament binding activity. Involved in several processes, including positive regulation of cell adhesion; regulation of gene expression; and regulation of signal transduction. Located in focal adhesion. Is expressed in several structures, including alimentary system; genitourinary system; immune system; lung; and skin. Used to study Kindler syndrome. Human ortholog(s) of this gene implicated in Kindler syndrome; telangiectasis; and vesiculobullous skin disease. Orthologous to human FERMT1 (FERM domain containing kindlin 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in colon adult (RPKM 15.9), large intestine adult (RPKM 8.3) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 F2; 2 64.8 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (132746097..132787956, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (132904177..132946036, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Kindlin-1 regulates IL-6 secretion and modulates the immune environment in breast cancer models.
Title: Kindlin-1 regulates IL-6 secretion and modulates the immune environment in breast cancer models.
The sharpin may complex with both kindlin-1 and the integrin beta1 CT to restrict the talin head domain binding, thus inhibiting beta1-integrin activation.
Title: Sharpin suppresses β1-integrin activation by complexing with the β1 tail and kindlin-1.
Kindin-1 is a critical mediator of early lung metastasis of breast cancer.
Title: Kindlin-1 Promotes Pulmonary Breast Cancer Metastasis.
Kindlin supports platelet GPIIB IIIA activation by interacting with paxillin.
Title: Kindlin supports platelet integrin αIIbβ3 activation by interacting with paxillin.
loss of Kindlin-1 leads to an imbalance in the cellular oxidative state, which renders Kindlin-1 deficient cells more prone to the effects of reactive oxygen species generated in response to oxidative stress
Title: Kindlin-1 protects cells from oxidative damage through activation of ERK signalling.
these data define a novel role for Kin1 in microtubule acetylation and stability
Title: Kindlin1 regulates microtubule function to ensure normal mitosis.
These results indicate that Kindlin-1 is essential in EGF-induced re-epithelialization in skin wound healing and provide additional rationale for the clinical application of EGF in the treatment of acute wounds.
Title: Kindlin-1 contributes to EGF-induced re-epithelialization in skin wound healing.
By modulating its affinity with kindlin, beta3 integrin may be able to locate near the cell edge where it can control beta1 integrin activation and clustering.
Title: αvβ3 integrins negatively regulate cellular forces by phosphorylation of its distal NPXY site.
Kindlin-1 is highly expressed in epithelial tissues derived from ectoderm and endoderm. Kindlin-1 was also found highly expressed in endoderm/ectoderm-derived tissues in embryos.
Title: Kindler syndrome protein Kindlin-1 is mainly expressed in adult tissues originating from ectoderm/endoderm.
Kindlin-1 controls keratinocyte adhesion through beta1-class integrins and proliferation and differentiation of cutaneous epithelial stem cells via TGF-beta activation and Wnt-beta-catenin signal inhibition.
Title: Kindlin-1 controls Wnt and TGF-β availability to regulate cutaneous stem cell proliferation.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

5830467P10Rik (e-PCR), detects polymorphism
- UniSTS:498215

5830467P10Rik (e-PCR), detects polymorphism
- UniSTS:498216

D2Mit508 (e-PCR), detects polymorphism
- UniSTS:129429

D2Dcr76 (e-PCR), detects polymorphism
- UniSTS:507635

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables integrin binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in basement membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in cell adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell-matrix adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment of epithelial cell polarity	ISO Inferred from Sequence Orthology more info
involved_in establishment of epithelial cell polarity	ISS Inferred from Sequence or Structural Similarity more info
involved_in integrin-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in keratinocyte migration	ISO Inferred from Sequence Orthology more info
involved_in keratinocyte migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in keratinocyte proliferation	ISO Inferred from Sequence Orthology more info
involved_in keratinocyte proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein import into nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of stem cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of timing of anagen	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell adhesion mediated by integrin	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell-matrix adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of integrin activation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of integrin activation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transforming growth factor beta production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transforming growth factor beta receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of wound healing, spreading of epidermal cells	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of wound healing, spreading of epidermal cells	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cell junction	ISO Inferred from Sequence Orthology more info
located_in cell junction	ISS Inferred from Sequence or Structural Similarity more info
located_in cell periphery	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
is_active_in focal adhesion	IBA Inferred from Biological aspect of Ancestor more info
located_in focal adhesion	IDA Inferred from Direct Assay more info	PubMed
located_in focal adhesion	ISO Inferred from Sequence Orthology more info
located_in ruffle membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: fermitin family homolog 1

Names: unc-112-related protein 1

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_198029.2 → NP_932146.2 fermitin family homolog 1

See identical proteins and their annotated locations for NP_932146.2

Status: VALIDATED

Source sequence(s)

AK030947, AK050804, AL831763

Consensus CDS

CCDS38248.1

UniProtKB/Swiss-Prot

A2ANX1, P59113, Q8BQG6

Related

ENSMUSP00000047616.5, ENSMUST00000038280.5

Conserved Domains (5) summary

smart00295
Location:250 → 322

B41; Band 4.1 homologues

cd01237
Location:370 → 494

PH_fermitin; Fermitin family pleckstrin homology (PH) domain

cd13205
Location:564 → 655

FERM_C_fermitin; FERM domain C-lobe of the Fermitin family

pfam00169
Location:378 → 473

PH; PH domain

pfam00373
Location:515 → 570

FERM_M; FERM central 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_000068.8 Reference GRCm39 C57BL/6J

Range

132746097..132787956 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006499507.1 → XP_006499570.1 fermitin family homolog 1 isoform X1

UniProtKB/TrEMBL

Q4W4Z0

Conserved Domains (5) summary

smart00295
Location:155 → 227

B41; Band 4.1 homologues

cd01237
Location:275 → 399

PH_fermitin; Fermitin family pleckstrin homology (PH) domain

cd13205
Location:469 → 560

FERM_C_fermitin; FERM domain C-lobe of the Fermitin family

pfam00373
Location:419 → 475

FERM_M; FERM central domain

cl28922
Location:1 → 180

Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold