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  2. FMN1 - formin 1 Gene

FMN1 - formin 1 Gene

中文名称:形式 1

种属: Homo sapiens

同用名: LD; FMN

基因 ID: 342184 | 基因类型: protein coding

关于 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.

功能概要

该基因属于甲蛋白同源家族,编码一种在粘附连接形成和线性肌动蛋白电缆聚合中起作用的蛋白质。小鼠同源基因与肢体畸形有关。已发现该基因的可变剪接转录物变体。[RefSeq 提供,2015 年 9 月]

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 基因产物(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 蛋白结构

FH2

FH2: Formin Homology 2 Domain (973 - 1363)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1419 a.a.
蛋白主名 其他名称

formin-1

formin (limb deformity)

FMN1 抗体

目录号 产品名 应用 反应物种
HY-P89574 Formin 1 Antibody (YA8918) WB, ICC/IF, IF-Tissue, IP, ELISA human

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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