1. Gene
  2. PLCXD1 - phosphatidylinositol specific phospholipase C X domain containing 1 Gene

PLCXD1 - phosphatidylinositol specific phospholipase C X domain containing 1 Gene

中文名称:含磷脂酰肌醇特异性磷脂酶 CX 结构域, 1

种属: Homo sapiens

同用名: LL0XNC01-136G2.1

基因 ID: 55344 | 基因类型: protein coding

关于 PLCXD1

Cytogenetic location: Xp22.33 Genomic coordinates (GRCh38): X:276,356-303,356 (from NCBI)

This gene has 10 transcripts (splice variants), 214 orthologues and 2 paralogues. Ubiquitous expression in stomach (RPKM 5.3), skin (RPKM 4.4) and 25 other tissues.

功能概要

该基因是 X 和 Y 染色体上假常染色体 (PAR) 区域中最末端的蛋白质编码基因。交替剪接导致多个转录变体。[RefSeq 提供,2010 年 3 月]

This gene is the most terminal protein-coding gene in the pseudoautosomal (PAR) region on chromosomes X and Y. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

PLCXD1 基因产物(5)

mRNA Protein Name
NM_001370370.1 NP_001357299.1 PI-PLC X domain-containing protein 1 isoform 1
NM_001370371.1 NP_001357300.1 PI-PLC X domain-containing protein 1 isoform 1
NM_001370372.1 NP_001357301.1 PI-PLC X domain-containing protein 1 isoform 2
NM_001370373.1 NP_001357302.1 PI-PLC X domain-containing protein 1 isoform 1
NM_018390.4 NP_060860.1 PI-PLC X domain-containing protein 1 isoform 1

PLCXD1 蛋白结构

PI-PLC-X

PI-PLC-X: Phosphatidylinositol-specific phospholipase C, X domain (84 - 182)

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  • 323 a.a.
蛋白主名 其他名称

PI-PLC X domain-containing protein 1

关联疾病

疾病名称 别名
Leri-Weill Dyschondrosteosis

LWD

Dyschondrosteosis

Dco

Léri-Weill Dyschondrosteosis

Leri Weill Dyschondrosteosis

Leri-Weill Syndrome

Leri-Weil Syndrome

Dyschondrosteosis, Leri-Weill

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 PLCXD1 MGD MGI:2685422
Canis familiaris PLCXD1 VGNC VGNC:44656
Rattus norvegicus PLCXD1 RGD RGD:1560935