1. Gene
  2. UCMA - upper zone of growth plate and cartilage matrix associated Gene

UCMA - upper zone of growth plate and cartilage matrix associated Gene

中文名称:生长板的上部区域和相关的软骨基质

种属: Homo sapiens

同用名: GRP; C10orf49; GRP/UCMA

基因 ID: 221044 | 基因类型: protein coding

关于 UCMA

This gene has 2 transcripts (splice variants) and 220 orthologues. Low expression observed in reference dataset.

功能概要

该基因编码一种软骨细胞特异性、高电荷的蛋白质,该蛋白质在胎儿和幼年骨骺软骨的上层未成熟区大量表达。编码的蛋白质经过蛋白水解加工,生成分泌到细胞外基质中的成熟蛋白质。编码蛋白质中的谷氨酸残基以维生素 K 依赖性方式进行 γ 羧化。编码蛋白的羧基化不足与人类的骨关节炎有关。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2015 年 7 月]

This gene encodes a chondrocyte-specific, highly charged protein that is abundantly expressed in the upper immature zone of fetal and juvenile epiphyseal cartilage. The encoded protein undergoes proteolytic processing to generate a mature protein that is secreted into the extracellular matrix. The glutamic acid residues in the encoded protein undergo gamma carboxylation in a vitamin K-dependent manner. Undercarboxylation of the encoded protein is associated with osteoarthritis in humans. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]

UCMA 基因产物(3)

mRNA Protein Name
NM_001303118.2 NP_001290047.1 unique cartilage matrix-associated protein isoform 2 precursor
NM_001303119.2 NP_001290048.1 unique cartilage matrix-associated protein isoform 3 precursor
NM_145314.3 NP_660357.2 unique cartilage matrix-associated protein isoform 1 preproprotein
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables BMP binding IDA
IDA: 通过直接分析推断
29563538 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
29720262 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
蛋白主名 其他名称

unique cartilage matrix-associated protein

Gla-rich protein

重组 UCMA 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71413 UCMA Protein, Human Q8WVF2 (S65-T138) ≥95%

关联疾病

疾病名称 别名
Osteoarthritis

Osteoarthrosis

Degenerative Joint Disease

Hypertrophic Arthritis

Arthropathy

Degenerative Polyarthritis

Degenerative Arthritis

Osteoarthrosis And Allied Disorder

Arthritis, Degenerative

Oa

Osteoarthritis Deformans

Osteoarthrosis Deformans

Kashin-Beck Disease

Poland Syndrome

Poland Anomaly

Poland Sequence

Poland Syndactyly

Poland'S Syndrome

Poland'S Anomaly

Poland'S Syndactyly

Acro-Pectoro-Renal Field Defect

Brachydactyly, Absent Pectoral Muscles And Agenesis/Hypoplasia Of Kidneys

Unilateral Defect Of Pectoralis Muscle And Syndactyly Of The Hand

Unilateral Defect Of Pectoralis Major And Syndactyly Of The Hand

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
Mus musculus UCMA MGD MGI:1915777
Macaca mulatta UCMA VGNC VGNC:79482
Bos taurus UCMA VGNC VGNC:107012
Canis familiaris UCMA VGNC VGNC:48107
Rattus norvegicus UCMA RGD RGD:1308977
Others UCMA NCBI