1. Gene
  2. FHL1 - four and a half LIM domains 1 Gene

FHL1 - four and a half LIM domains 1 Gene

中文名称:四个半 LIM 域 1

种属: Homo sapiens

同用名: KYOT; SLIM; FCMSU; FHL-1; FHL1A; FHL1B; FLH1A; SLIM1; XMPMA; RBMX1A; RBMX1B; SLIM-1; SLIMMER

基因 ID: 2273 | 基因类型: protein coding

关于 FHL1

Cytogenetic location: Xq26.3 Genomic coordinates (GRCh38): X:136,146,702-136,211,359 (from NCBI)

This gene has 36 transcripts (splice variants), 214 orthologues, 20 paralogues and is associated with 12 phenotypes. Broad expression in heart (RPKM 286.6), fat (RPKM 281.6) and 18 other tissues.

功能概要

该基因编码四个半 LIM-only 蛋白质家族的成员。家族成员包含两个高度保守、串联排列的锌指结构域,每个锌指中有四个高度保守的半胱氨酸结合一个锌原子。这些家族成员的表达以细胞和组织特异性模式发生,并且这些蛋白质参与许多细胞过程。已经在 Emery-Dreifuss 肌营养不良症患者中发现了该基因的突变。已经描述了编码不同蛋白质亚型的多个交替剪接的转录变体。[RefSeq 提供,2009 年 11 月]

This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. Expression of these family members occurs in a cell- and tissue-specific mode and these proteins are involved in many cellular processes. Mutations in this gene have been found in patients with Emery-Dreifuss muscular dystrophy. Multiple alternately spliced transcript variants which encode different protein isoforms have been described.[provided by RefSeq, Nov 2009]

FHL1 基因产物(15)

mRNA Protein Name
NM_001159699.2 NP_001153171.1 four and a half LIM domains protein 1 isoform 5
NM_001159700.2 NP_001153172.1 four and a half LIM domains protein 1 isoform 2
NM_001159701.2 NP_001153173.1 four and a half LIM domains protein 1 isoform 3 precursor
NM_001159702.3 NP_001153174.1 four and a half LIM domains protein 1 isoform 1
NM_001159703.2 NP_001153175.1 four and a half LIM domains protein 1 isoform 4
NM_001159704.1 NP_001153176.1 four and a half LIM domains protein 1 isoform 2
NM_001167819.1 NP_001161291.1 four and a half LIM domains protein 1 isoform 2
NM_001330659.2 NP_001317588.1 four and a half LIM domains protein 1 isoform 6
NM_001369326.1 NP_001356255.1 four and a half LIM domains protein 1 isoform 1
NM_001369327.2 NP_001356256.1 four and a half LIM domains protein 1 isoform 1
NM_001369328.1 NP_001356257.1 four and a half LIM domains protein 1 isoform 1
NM_001369329.1 NP_001356258.1 four and a half LIM domains protein 1 isoform 2
NM_001369330.1 NP_001356259.1 four and a half LIM domains protein 1 isoform 2
NM_001369331.1 NP_001356260.1 four and a half LIM domains protein 1 isoform 2
NM_001449.5 NP_001440.2 four and a half LIM domains protein 1 isoform 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
18482256 GOA
enables transmembrane transporter binding IPI
IPI: 通过物理相互作用推断
18281375 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
21702045 GOA
located in nucleus IDA
IDA: 通过直接分析推断
21702045 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
18281375 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

FHL1 蛋白结构

LIM

LIM: LIM domain (40 - 94)

LIM

LIM: LIM domain (101 - 158)

LIM

LIM: LIM domain (162 - 214)

  • 0
  • 100
  • 200
  • 300
  • 323 a.a.
蛋白主名 其他名称

four and a half LIM domains protein 1

LIM protein SLIMMER

FHL1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra FHL1 Q13642 NRIP1 Homo sapiens P48552
Anti Bait CoIP
19401155
Intra FHL1 Q13642 NRIP1 Homo sapiens P48552
Anti Tag CoIP
19401155
Intra FHL1 Q13642 NRIP1 Homo sapiens P48552
Y2H
19401155
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Myopathy, X-Linked, With Postural Muscle Atrophy

Emery-Dreifuss Muscular Dystrophy 6, X-Linked

XMPMA

X-Linked Myopathy With Postural Muscle Atrophy

X-Linked Emery-Dreifuss Muscular Dystrophy 6

EDMD6

Emd6

Scapuloperoneal Myopathy, X-Linked Dominant

X-Linked Scapuloperoneal Muscular Dystrophy

SPM

Scapuloperoneal Myopathy, Fhl1-Related

X-Linked Spmd

X-Linked Scapuloperoneal Syndrome

X-Linked Dominant Scapuloperoneal Myopathy

Scapuloperoneal Myopathy Fhl1-Related

X-Linked Emery-Dreifuss Muscular Dystrophy

Reducing Body Myopathy, X-Linked 1a, Severe, With Infantile Or Early Childhood Onset

Myopathy, Reducing Body, X-Linked, Early-Onset, Severe

RBMX1A

Reducing Body Myopathy, X-Linked 1a, Severe, Infantile Or Early Childhood Onset

Myopathy, Reducing Body, X-Linked, Severe Early-Onset

Reducing Body Myopathy, X-Linked 1b, With Late Childhood Or Adult Onset

RBMX1B

Uruguay Faciocardiomusculoskeletal Syndrome

FCMSU

Faciocardiomusculoskeletal Syndrome, Uruguay Type

Fcms

Musculoskeletal Diseases

Reducing Body Myopathy

Myopathy, Reducing Body

Reducing-Body Myopathy

X-Linked Emery-Dreifuss Muscular Dystrophy

Emery-Dreifuss Muscular Dystrophy, X-Linked

Scapuloperoneal Myopathy
Hemophagocytic Lymphohistiocytosis, Familial, 1

Familial Hemophagocytic Lymphohistiocytosis

Fhl

Familial Erythrophagocytic Lymphohistiocytosis

Hemophagocytic Syndrome

FHL1

Hplh1

Hlh1

Fel

Familial Hemophagocytic Lymphohistiocytosis 1

Primary Hemophagocytic Lymphohistiocytosis

Familial Hlh

Hlh

Familial Hemophagocytic Lymphocytosis

Hemophagocytic Lymphohistiocytosis, Familial

Reticulosis, Familial Histiocytic

Hemophagocytic Reticulosis, Familial

Erythrophagocytic Lymphohistiocytosis, Familial

Familial Histiocytic Reticulosis

Familial Hemophagocytic Histiocytosis

Familial Hemophagocytic Reticulosis

Fhlh

Hplh

Primary Hemophagocytic Hymphohistiocytosis

Genetic Hemophagocytic Lymphohistiocytosis

Hemophagocytic Lymphohistiocytosis

Familial Hemophagocytic Lymphohistiocytosis Type 1

Emery-Dreifuss Muscular Dystrophy

Edmd

Emery-Dreifuss Syndrome

Muscular Dystrophy, Emery-Dreifuss

Humeroperoneal Neuromuscular Disease

Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures

Scapuloperoneal Syndrome, X-Linked

Benign Scapuloperoneal Muscular Dystrophy With Early Contractures

Muscular Dystrophy, Emery-Dreifuss Type

Muscular Dystrophy Emery-Dreifuss

Dystrophy, Muscular, Emery-Dreifuss

Emd - [Emery-Dreifuss Muscular Dystrophy]

Muscle Hypertrophy

MSLHP

Hypertrophy

Hypertrophy, Muscle

Chikungunya

Chikungunya Fever

Arbovirus A Chikungunya Type

Chik

Chikv Infection

Ck

Chikungunya Virus Infection

Chikungunya Haemorrhagic Fever

Chikungunya Viral Disease

Chikungunya Mosquito-Borne Viral Fever

Progressive Muscular Dystrophy
Foot Drop
Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1

CMH1

Hypertrophic Cardiomyopathy 19

CMH

Ventricular Hypertrophy, Hereditary

Ash

Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1

Hcm

Hereditary Ventricular Hypertrophy

Idiopathic Hypertrophic Subaortic Stenosis

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy

Fhc

Cardiomyopathy, Hypertrophic, Familial, Type 1

Myofibrillar Myopathy

Desmin Related Myopathy

Myotilinopathy

Myopathy, Myofibrillar

Alpha Beta Crystallinopathy

Desmin Storage Myopathy

Desminopathy

Filaminopathy

Protein Surplus Myopathy

Zaspopathy

Myofibrillar Myopathies

Myopathy, Myofibrillar, Desmin-Related

Myopathy, Desmin Storage

Mfm - [Myofibrillar Myopathy]

Myopathy

Muscular Diseases

Myopathies

Rigid Spine Muscular Dystrophy 1

Rigid Spine Syndrome

RSMD1

Rss

Mdrs1

Eichsfeld Type Congenital Muscular Dystrophy

Desmin-Related Myopathy With Mallory Bodies

Classic Multiminicore Myopathy

Sepn1-Related Myopathy

Multicore Myopathy, Severe Classic Form

Minicore Myopathy, Severe Classic Form

Multiminicore Disease, Severe Classic Form

Muscular Dystrophy, Rigid Spine, 1

Classic Mmd

Classic Multiminicore Disease

Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity

Desmin-Related Myopathy With Mallory Body-Like Inclusions

Early-Onset Desmin-Related Myopathy

Myopathy, Sepn1-Related

Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity

Muscular Dystrophy, Congenital, Eichsfeld Type

Severe Classic Form Minicore Myopathy

Severe Classic Form Multicore Myopathy

Severe Classic Form Multiminicore Disease

Desmin-Related Myopathies With Mallory Bodies

Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity

Rigid Spine Muscular Dystrophy-1

Rigid Spine Congenital Muscular Dystrophy

Congenital Muscular Dystrophy Eichsfeld Type

Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity

Minicore Myopathy Severe Classic Form

Multicore Myopathy Severe Classic Form

Multiminicore Disease Severe Classic Form

Dystrophy, Muscular, Rigid Spine, Type 1

Clubfoot

Congenital Talipes Equinovarus

Congenital Clubfoot

Congenital Equinovarus

Equinovarus Deformity Of Foot

Club Foot

Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

EDMD5

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 5

Emd5

Dystrophy, Muscular, Emery-Dreifuss, Type 5, Autosomal Dominant

Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

EDMD4

Emery-Dreifuss Muscular Dystrophy 4 With Variable Features

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4

Emd4

Dystrophy, Muscular, Emery-Dreifuss, Type 4, Autosomal Dominant

Emery-Dreifuss Muscular Dystrophy 4

Respiratory Failure

Acute Respiratory Failure

Chronic Respiratory Failure

Respiratory Insufficiency

Acute-On-Chronic Respiratory Failure

Respiratory Disease

Acute And Chronic Respiratory Failure

Respiratory Insufficiency/Failure

Chronic Respiratory Disease

Pulmonary Valve Insufficiency

Chronic Disease Of Respiratory System

Respiration Disorders

Respiratory Tract Diseases

Lung Failure Nos

Pulmonary Failure

Arf - [Acute Respiratory Failure]

Acute Respiratory Insufficiency

Acute Pulmonary Insufficiency

Acute Respiration Failure

Chronic Respiration Failure

Muscular Dystrophy, Congenital, Lmna-Related

Congenital Muscular Dystrophy

Congenital Muscular Dystrophy Due To Lmna Mutation

MDCL

L-Cmd

Lmna-Related Congenital Muscular Dystrophy

Muscular Dystrophy, Congenital

Congenital Muscular Dystrophy Lmna-Related

Lmna-Related Cmd

Cmd

Mdc

Muscular Dystrophy Congenital Lmna-Related

Dystrophy, Muscular, Congenital, Lmna-Related

Dystrophy, Muscular, Congenital

Hereditary Muscular Dystrophy

Congenital Hereditary Muscular Dystrophy

Congenital Progressive Muscular Dystrophy

Hereditary Progressive Muscular Dystrophy

Scoliosis
Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

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 FHL1 VGNC VGNC:40871
Mus musculus FHL1 MGD MGI:1298387
Rattus norvegicus FHL1 RGD RGD:2615
Macaca mulatta FHL1 VGNC VGNC:72660
Felis catus FHL1 VGNC VGNC:62264
Bos taurus FHL1 VGNC VGNC:28999
Others FHL1 NCBI