1. Gene
  2. SPON1 - spondin 1 Gene

SPON1 - spondin 1 Gene

中文名称:spondin 1

种属: Homo sapiens

同用名: f-spondin; VSGP/F-spondin

基因 ID: 10418 | 基因类型: protein coding

关于 SPON1

Cytogenetic location: 11p15.2 Genomic coordinates (GRCh38): 11:13,962,723-14,268,133 (from NCBI)

This gene has 2 transcripts (splice variants), 287 orthologues and 3 paralogues. Broad expression in gall bladder (RPKM 73.6), urinary bladder (RPKM 33.9) and 16 other tissues.

功能概要

预测为细胞外基质结构成分。预计参与细胞粘附。预计在蛋白质结合活性的正调节上游或正调节内起作用;蛋白质加工的正调节;淀粉样蛋白前体蛋白分解代谢过程的调控。位于细胞外空间。与含胶原蛋白的细胞外基质共定位。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to be an extracellular matrix structural constituent. Predicted to be involved in cell adhesion. Predicted to act upstream of or within positive regulation of protein binding activity; positive regulation of protein processing; and regulation of amyloid precursor protein catabolic process. Located in extracellular space. Colocalizes with collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022]

SPON1 基因产物(1)

mRNA Protein Name
NM_006108.4 NP_006099.2 spondin-1 precursor

SPON1 蛋白结构

Reeler

Reeler: Reeler domain (43 - 173)

Spond_N

Spond_N: Spondin_N (204 - 398)

TSP_1

TSP_1: Thrombospondin type 1 domain (446 - 494)

TSP_1

TSP_1: Thrombospondin type 1 domain (505 - 554)

TSP_1

TSP_1: Thrombospondin type 1 domain (562 - 610)

TSP_1

TSP_1: Thrombospondin type 1 domain (618 - 665)

TSP_1

TSP_1: Thrombospondin type 1 domain (672 - 720)

TSP_1

TSP_1: Thrombospondin type 1 domain (759 - 807)

  • 0
  • 200
  • 400
  • 600
  • 807 a.a.
蛋白主名 其他名称

spondin-1

spondin 1, (f-spondin) extracellular matrix protein

关联疾病

疾病名称 别名
Peters-Plus Syndrome

Krause-Kivlin Syndrome

Peters Plus Syndrome

Peters Anomaly

Irido-Corneo-Trabecular Dysgenesis

PTRPLS

Peters Anomaly With Short-Limb Dwarfism

Peters Anomaly-Short Limb Dwarfism Syndrome

Peters Anomaly With Short Limb Dwarfism

Peters Congenital Glaucoma

Krause-Van Schooneveld-Kivlin Syndrome

Peters' Plus Syndrome

Peters'-Plus Syndrome

Anomaly Peters

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12

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
Felis catus SPON1 VGNC VGNC:104331
Bos taurus SPON1 VGNC VGNC:35227
Canis familiaris SPON1 VGNC VGNC:46752
Rattus norvegicus SPON1 RGD RGD:619918
Macaca mulatta SPON1 VGNC VGNC:77862
Mus musculus SPON1 MGD MGI:2385287