FERMT1 - FERM domain containing kindlin 1 Gene

Homo sapiens

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

Gene ID: 55612 | Gene type: protein coding

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04864	FERMT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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