FMN1 - formin 1 Gene

Also Known as LD; FMN

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 342184

About FMN1

Cytogenetic location: 15q13.3 Genomic coordinates (GRCh38): 15:32,765,544-33,194,714 (from NCBI)

This gene has 13 transcripts (splice variants) and 242 orthologues. Broad expression in testis (RPKM 2.4), colon (RPKM 1.7) and 20 other tissues.

Summary

This gene belongs to the formin homology family and encodes a protein that has a role in the formation of adherens junction and the polymerization of linear actin cables. The homologous gene in mouse is associated with limb deformity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]

FMN1 Products (3)

mRNA	Protein	Name
NM_001103184.4	NP_001096654.1	formin-1 isoform b
NM_001277313.2	NP_001264242.1	formin-1 isoform a
NM_001277314.2	NP_001264243.1	formin-1 isoform c

FMN1 Protein Structure

FH2

0
300
600
900
1200
1419 a.a.

Protein Preferred Names	Protein Names
formin-1	formin (limb deformity)

Related Diseases

Diseases	Alias
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Konigsmark Syndrome DFNA1 Autosomal Dominant Nonsyndromic Deafness 1 Lfhl1 Deafness, Autosomal Dominant 1 Autosomal Dominant Deafness 1 Autosomal Dominant Deafness 1, With Or Without Thrombocytopenia Hereditary Low Frequency Hearing Loss 1 Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome Diaph1-Related Sensorineural Deafness-Thrombocytopenia Syndrome Hereditary Low-Frequency Hearing Loss Hereditary Low-Frequency Sensorineural Hearing Loss Lfsnhl1 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 1 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 1 Deafness, Autosomal Dominant, Type 1
Auditory Neuropathy, Autosomal Dominant 1	Autosomal Dominant Auditory Neuropathy 1 AUNA1 Nsdan Auditory Neuropathy, Autosomal Dominant, 1 Auditory Neuropathy, Nonsyndromic Dominant Nonsyndromic Dominant Auditory Neuropathy Nonsyndromic Auditory Neuropathy Autosomal Dominant
Aarskog-Scott Syndrome	Aarskog Syndrome Faciogenital Dysplasia Faciodigitogenital Syndrome AAS Fgdy X-Linked Aarskog Syndrome Intellectual Developmental Disorder, X-Linked, Syndromic 16 Aarskog Syndrome, X-Linked Intellectual Developmental Disorder, X-Linked Syndromic 16 Greig'S Syndrome Aarskog Scott Syndrome Aarskog Disease Scott Aarskog Syndrome Facio-Digito-Genital Dysplasia Faciogenital Dysplasia With Attention Deficit-Hyperactivity Disorder Aarskog-Scott Syndrome ) Syndrome
Synostosis
Epidemic Typhus	Typhus Typhus Fever Epidemic Louse-Borne Typhus Fever Due To Rickettsia Prowazekii Murine Typhus Classical Typhus Endemic Flea-Borne Typhus Endemic Typhus Fever Epidemic Louse-Borne Typhus Famine Fever Flea-Borne Typhus Jail Fever Louse-Borne Typhus Mexican Typhus Shop Typhus Urban Typhus Brill-Zinsser Disease Endemic Typhus Sylvatic Typhus Epidemic Typhus European Typhus Exanthematic Typhus Fever Exanthematous Typhus Flea Typhus Flea-Borne Rickettsiosis Hospital Fever Louse-Borne [Epidemic] Typhus Louse-Borne Rickettsiosis Moscow Typhus Murine [Endemic] Typhus Petechial Fever Prison Fever Rat Flea Typhus Ship Fever Typhus Exanthematique Typhus, Endemic Flea-Borne Typhus, Epidemic Louse-Borne Typhus Group Rickettsial Disease Relapsing Fever Typhus Fever Nos Typhus Nos Epidemic Typhus Fever Louse-Borne Typhus Fever Classical Typhus Fever Louse-Borne Tabardillo Epidemic Typhus Fever Due To Rickettsia Prowazekii Endemic Murine Typhus Flea-Borne Typhus Fever Murine Endemic Flea Typhus Rat Typhus Typhus Due To Rickettsia Typhi Flea-Borne Tabardillo Rickettsia Typhi Rickettsiosis Mexican Fever Murine Flea-Borne Typhus Mooser Bodies Tsutsugamushi Fever Kedani Fever Mite-Borne Typhus Mite-Borne Typhus Due To Rickettsia Tsutsugamushi Scrub Typhus Tsutsugamushi Tsutsugamushi Disease Scrub Mite-Borne Typhus Sumatran Mite Fever Japanese River Fever Kedani Typhus Rickettsia Tsutsugamushi Rickettsiosis Sumatran Mite Typhus Tropical Typhus Japanese Typhus
Wiskott-Aldrich Syndrome	WAS Eczema-Thrombocytopenia-Immunodeficiency Syndrome Immunodeficiency 2 Aldrich Syndrome Imd2 Wiskott-Aldrich Syndrome 1 Was1 Wiskott Syndrome Wiskott Aldrich Syndrome Eczema Thrombocytopenia Immunodeficiency Syndrome Imd 2
Rocky Mountain Spotted Fever	Brazillian Spotted Choix Exanthematic Typhus Of Sao Paulo Fiebre Maculosa Fiebre Manchada Sao Paulo Typhus So Paulo Fever Tick Typhus Tobia Fever Rmsf Typhus, Tick
Syndactyly, Type Iii	Syndactyly Type 3 SDTY3 Ring And Little Finger Syndactyly Syndactyly Of Fingers Iv And V Syndactyly Of Fingers 4 And 5 Ringand Little Finger Syndactyly Syndactyly Of Fingers Four And Five Syndactyly Of The Ring And Little Finger Sd3 Syndactyly 3 Syndactyly Type Iii 4-5 Finger Syndactyly Syndactyly, Type 3
Akinetopsia
Brill-Zinsser Disease	Recrudescent Typhus Brill Disease Brill Zinsser Disease Brill'S Disease Latent Typhus Sporadic Typhus Typhus, Epidemic Louse-Borne Recrudescent Typhus Due To Rickettsia Prowazekii Recrudescent Typhus Fever Recrudescent Brill-Zinsser Typhus Due To Rickettsia Prowazekii Recrudescent Brill Disease Recrudescent Typhus Fever Due To Rickettsia Prowazekii
Lethal Congenital Contracture Syndrome 4	LCCS4 Contracture Syndrome, Lethal, Congenital, Type 4
Spotted Fever	Spotted Fevers Spotted Fever Group Rickettsial Disease Tick-Borne Rickettsioses Tick-Borne Typhus Nos Rocky Mountain Spotted Fever Sao Paulo Fever Sao Paulo Typhus Lone Star Spotted Fever Colombian Spotted Fever American Spotted Fever Tick Typhus Due To Rickettsia Rickettsii Rocky Mountain Tick Fever Boutonneuse Fever Mediterranean Tick Fever Fièvre Boutonneuse Mediterranean Spotted Fever Tick Typhus Due To Rickettsia Conorii African Tick Typhus Indian Tick Typhus Kenya Tick Typhus North Asian Tick Fever Siberian Tick Typhus Tick Typhus Due To Rickettsia Siberica North Asian Spotted Fever Queensland Tick Typhus Queensland Fever
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05000	FMN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W141871	DL-Thyronine		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	FMN1	VGNC	VGNC:59112
Macaca mulatta	FMN1	VGNC	VGNC:108298
Rattus norvegicus	FMN1	RGD	RGD:1306349
Mus musculus	FMN1	MGD	MGI:101815
Felis catus	FMN1	VGNC	VGNC:62303
Others	FMN1	NCBI