FERMT1 - FERM domain containing kindlin 1 Gene

Also Known as URP1; KIND1; DTGCU2; UNC112A; C20orf42

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55612

About FERMT1

Cytogenetic location: 20p12.3 Genomic coordinates (GRCh38): 20:6,074,845-6,123,030 (from NCBI)

This gene has 8 transcripts (splice variants), 208 orthologues, 2 paralogues and is associated with 3 phenotypes. Broad expression in colon (RPKM 18.0), skin (RPKM 10.5) and 15 other tissues.

Summary

This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in Integrin signaling and linkage of the actin Cytoskeleton to the extracellular matrix. Mutations in this gene have been linked to Kindler syndrome. [provided by RefSeq, Dec 2009]

FERMT1 Products (1)

mRNA	Protein	Name
NM_017671.5	NP_060141.3	fermitin family homolog 1

FERMT1 Protein Structure

FERM_N

FERM_M

0
200
400
600
677 a.a.

Protein Preferred Names	Protein Names
fermitin family homolog 1	UNC112 related protein 1

Related Diseases

Diseases	Alias
Kindler Syndrome	Poikiloderma Of Kindler Bullous Acrokeratotic Poikiloderma Of Kindler And Weary Congenital Bullous Poikiloderma KNDLRS Poikiloderma, Hereditary Acrokeratotic Poikiloderma, Congenital, With Bullae, Weary Type Kindler'S Syndrome Poikiloderma Congenital With Bullae Weary Type Hereditary Acrokeratotic Poikiloderma Of Kindler-Weary Hereditary Acrokeratotic Poikiloderma Weary Syndrome Poikiloderma Hereditary Acrokeratotic Potassium Deficiency
Kindler Epidermolysis Bullosa	Congenital Bullous Poikiloderma Kindler Syndrome Poikiloderma Of Kindler
Skin Atrophy	Atrophic Condition Of Skin Atrophoderma Atrophy - Skin
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Leukocyte Adhesion Deficiency, Type Iii	Leukocyte Adhesion Deficiency 3 LAD3 Leukocyte Adhesion Deficiency 1 Variant Lad1v Integrin Activation Deficiency Disease Iadd Leukocyte Adhesion Deficiency Type Iii Lad1 Variant Lad-1 Variant Lad-Iii Leukocyte Adhesion Deficiency-1 Variant Leukocyte Adhesion Deficiency Type 1
Leukocyte Adhesion Deficiency, Type I	Leukocyte Adhesion Deficiency Leukocyte Adhesion Deficiency 1 LAD1 Lad Lymphocyte Function-Associated Antigen 1 Immunodeficiency Leukocyte Adhesion Deficiency Type I Leukocyte Adhesion Deficiency Type 1 Linear Iga Bullous Dermatosis Linear Iga Dermatosis Leukocyte-Adhesion Deficiency Syndrome Lfa1 Immunodeficiency Congenital Leukocyte Adherence Deficiency Lad-I Linear Iga Disease Leukocyte Adhesion Deficiency Syndrome Lad 1 Lfa 1 Immunodeficiency Linear Immunoglobulin A Dermatosis Leucocyte Adhesion Deficiency Type 1 Leukocyte Adhesion Molecule Deficiency Type 1
Fraser Syndrome 1	Fraser Syndrome Cryptophthalmos With Other Malformations Cryptophthalmos Syndrome FRASRS1 Cryptophthalmos-Syndactyly Syndrome Fraser-Francois Syndrome Cyclopism Meyer-Schwickerath'S Syndrome Ulrich-Feichtiger Syndrome Cryptophthalmos Syndactyly Syndrome Fraser'S Syndrome Meyer-Schwickerath Syndrome Ullrich-Feichtiger Syndrome
Epidermolysis Bullosa Dystrophica	Dystrophic Epidermolysis Bullosa Deb Dermolytic Epidermolysis Bullosa Epidermolysis Bullosa, Dermolytic Epidermolysis Bullosa, Dystrophic Epidermolysis Bullosa Dystrophic Dystrophic Eb - [Epidermolysis Bullosa]
Transient Bullous Dermolysis Of The Newborn	TBDN Transient Bullous Of The Newborn Epidermolysis Bullosa Dystrophica, Neonatal Form Dystrophic Epidermolysis Bullosa, Neonatal Deb, Bullous Dermolysis Of The Newborn Deb-Bdn Epidermolysis Bullosa Dystrophica, Dominant Neonatal Form Self-Improving Dystrophic Epidermolysis Bullosa Self-Improving Deb Epidermolysis Bullosa Dystrophica Dominant Neonatal Type
Recessive Dystrophic Epidermolysis Bullosa	Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type Rdeb, Hallopeau-Siemens Type Severe Generalized Rdeb Severe Generalized Recessive Dystrophic Epidermolysis Bullosa Rdeb Generalisata Gravis Rdeb, Severe Generalized Rdeb-Sev Gen Recessive Dystrophic Epidermolysis Bullosa, Severe Generalized Hallopeau-Siemens Disease
Phimosis	Tight Foreskin Tight Frenulum Congenital Phimosis
Epidermolysis Bullosa Simplex 2f, With Mottled Pigmentation	Epidermolysis Bullosa Simplex With Mottled Pigmentation Ebsmp Speckled Hyperpigmentation With Punctate Palmoplantar Keratoses And Childhood Blistering Ebs-Mp EBS2F Ebs With Mottled Pigmentation Epidermolysis Bullosa Simplex-Mp Speckled Hyperpigmentation, Palmo-Plantar Punctate Keratoses And Childhood Blistering Epidermolysis Bullosa Simplex, With Mottled Pigmentation
Ectropion	Ectropion Of Eyelid Everted Margin Eversion Of The Eyelid Eyelashes Turned Out Eyelid Everted Eyelid Turned Out Unspecified Ectropion Of Unspecified Eye
Urethral Stricture	Ankylurethria Urethral Stenosis Urethral Contracture Urethral Obstruction Meatal Stenosis Nos Constriction Of Urethra Contraction Of Urethra Stricture Of Urinary Meatus Urethral Obliteration Urethral Narrowing Pinpoint Meatus Pinhole Meatus Nos Urethral Occlusion
Junctional Epidermolysis Bullosa	Epidermolysis Bullosa, Junctional Jeb Epidermolysis Bullosa Atrophicans Congenital Junctional Epidermolysis Bullosa Epidermolysis Bullosa Junctional Junctional Eb - [Epidermolysis Bullosa] Jeb - [Junctional Epidermolysis Bullosa] Lucidolytic Epidermolysis Bullosa
Photoparoxysmal Response 1	Photosensitivity Disease Photodermatitis Photosensitivity Disorders PPR1 Ppr Photosensitivity Photoconvulsive Reaction Epilepsy, Photogenic Photosensitivity Of Skin Dermatitis, Phototoxic
Bullous Skin Disease	Skin Diseases Bullous Skin Diseases, Bullous
Combined Immunodeficiency	Combined T Cell And B Cell Immunodeficiency Congenital Combined Immunodeficiency Syndrome With Combined Immunodeficiency Combined T And B Cell Immunodeficiency Combined Immunity Deficiency Combined Immunodeficiency Syndrome Combined T-Cell And B-Cell Immunodeficiency Lymphopenic Agammaglobulinaemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04864	FERMT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21129	Fermt1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27647	Fermt1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	FERMT1	MGD	MGI:2443583
Canis familiaris	FERMT1	VGNC	VGNC:40822
Bos taurus	FERMT1	VGNC	VGNC:28952
Macaca mulatta	FERMT1	VGNC	VGNC:72511
Rattus norvegicus	FERMT1	RGD	RGD:1306816
Felis catus	FERMT1	VGNC	VGNC:62229
Others	FERMT1	NCBI