2. Gene
  3. FGFRL1 - fibroblast growth factor receptor like 1 Gene

FGFRL1 - fibroblast growth factor receptor like 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：成纤维细胞生长因子受体样 1

种属: Homo sapiens

同用名: FHFR; FGFR5; FGFR-5

基因 ID: 53834 | 基因类型: protein coding

关于 FGFRL1

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:1,010,212-1,026,898 (from NCBI)

This gene has 7 transcripts (splice variants), 253 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in thyroid (RPKM 21.2), fat (RPKM 15.4) and 25 other tissues.

功能概要

该基因编码的蛋白质是成纤维细胞生长因子受体 (FGFR) 家族的成员，其中氨基酸序列在成员之间和整个进化过程中高度保守。 FGFR 家族成员的配体亲和力和组织分布各不相同。全长代表性蛋白质将由一个细胞外区域组成，该区域由三个免疫球蛋白样结构域、一个疏水性跨膜片段和一个细胞质酪氨酸激酶结构域组成。蛋白质的细胞外部分与成纤维细胞生长因子相互作用，启动一系列下游信号，最终影响有丝分裂发生和分化。该基因产物与其他家族成员之间的显着差异是它缺乏细胞质酪氨酸激酶结构域。结果是一个跨膜受体可以与其他家族成员相互作用并可能抑制信号传导。已为该基因发现编码相同同种型的多个可变剪接转录物变体。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene is a member of the Fibroblast Growth Factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. A marked difference between this gene product and the other family members is its lack of a cytoplasmic tyrosine kinase domain. The result is a transmembrane receptor that could interact with other family members and potentially inhibit signaling. Multiple alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008]

FGFRL1 基因产物(4)

mRNA Protein Name
NM_001004356.3 NP_001004356.1 fibroblast growth factor receptor-like 1 precursor
NM_001004358.1 NP_001004358.1 fibroblast growth factor receptor-like 1 precursor
NM_001370296.1 NP_001357225.1 fibroblast growth factor receptor-like 1 precursor
NM_021923.3 NP_068742.2 fibroblast growth factor receptor-like 1 precursor

FGFRL1 蛋白结构

I-set

I-set: Immunoglobulin I-set domain (35 - 116)

I-set

I-set: Immunoglobulin I-set domain (160 - 238)

I-set

I-set: Immunoglobulin I-set domain (251 - 355)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 504 a.a.
蛋白主名 其他名称

fibroblast growth factor receptor-like 1

FGF homologous factor receptor

重组 FGFRL1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71950 FGFRL1 Protein, Human (HEK 293, His) Q8N441 (A25-P378) ≥95%
HY-P72643 FGFRL1 Protein, Human (HEK293, His) Q8N441 (A25-P378) ≥95%

关联疾病

疾病名称 别名
Chromosome 4p Deletion

4p Partial Monosomy Syndrome

Chromosome 4 Short Arm Deletion

4p Deletion

4p Monosomy

Deletion 4p

Monosomy 4p

Partial Monosomy 4p

Wolf-Hirschhorn Syndrome

Chromosome 4 Short Arm Deletion Syndrome

Deletion Of Short Arm Of Chromosome 4
Familiar Ovarian Carcinoma
Antley-Bixler Syndrome

Trapezoidocephaly Synostosis Syndrome

Trapezoidocephaly-Synostosis Syndrome

Antley Bixler Syndrome

Multisynostotic Osteodysgenesis With Long Bone Fractures

Osteodysgenesis, Multisynostotic With Fractures

Antley-Bixler Syndrome, Autosomal Dominant

Antley-Bixler Syndrome Phenotype
Fibrochondrogenesis 1

FBCG1

Fibrochondrogenesis, Type 1
Wolf-Hirschhorn Syndrome

Pitt-Rogers-Danks Syndrome

WHS

Chromosome 4p16.3 Deletion Syndrome

Wittwer Syndrome

4p- Syndrome

Pitt Syndrome

4p Deletion Syndrome

Distal Deletion 4p

Distal Monosomy 4p

Telomeric Deletion 4p

Prds

4p Syndrome

Chromosome 4p Syndrome

Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation

Wolf Syndrome

Chromosome 4p Deletion Syndrome

Chromosome 4p Monosomy

Del Syndrome

Monosomy 4p

Partial Monosomy 4p

Chromosome 4 Short Arm Deletion
Radioulnar Synostosis

Radio-Ulnar Synostosis Type 1
Crouzon Syndrome

Crouzon Craniofacial Dysostosis

Craniofacial Dysostosis

Cfd1

Craniofacial Dysostosis Type 1

Crouzon Disease

Crouzon'S Disease

Craniofacial Dysostosis, Type I

Craniofacial Dysarthrosis

Craniofacial Dysostosis Syndrome

CS

Craniofacial Dysostosis Type I

Vogt Cephalosyndactyly
Craniosynostosis

Premature Closure Of Cranial Sutures

Craniostenosis

Craniosynostosis Syndrome

Cso

Craniosynostoses

Congenital Ossification Of Cranial Sutures

Congenital Ossification Of Sutures Of Skull

Craniostosis

Imperfect Fusion Of Skull

Congenital Imperfect Closure Skull

Imperfect Closure Skull

Premature Closure Cranium Sutures

Deficiency Of Craniofacial Axis
Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia

Diaphragmatic Hernia

Cdh

Congenital Diaphragmatic Defect

Hernia, Diaphragmatic

Dih

Hernia, Congenital Diaphragmatic

Hcd

Diaphragmatic Defect, Congenital

Diaphragm, Unilateral Agenesis Of

Hemidiaphragm, Agenesis Of

Diaphragmatic Hernia 1

Agenesis Of Hemidiaphragm

Unilateral Agenesis Of Diaphragm

Hernia Diaphragmatic

Hernia Diaphragmatic Congenital

Hernia, Diaphragmatic, Type 1

Hiatus Hernia

Oesophageal Hiatus Hernia

Paraoesophageal Hernia

Sliding Hiatus Hernia

Congenital Diaphragm Hernia

Congenital Diaphragm Defect With Hernia

Gross Congenital Diaphragm Defect
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04924 FGFRL1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus FGFRL1 VGNC VGNC:107334
Mus musculus FGFRL1 MGD MGI:2150920
Rattus norvegicus FGFRL1 RGD RGD:735156
Bos taurus FGFRL1 VGNC VGNC:28989
Canis familiaris FGFRL1 VGNC VGNC:40862
Macaca mulatta FGFRL1 VGNC VGNC:72655
Others FGFRL1 NCBI
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