1. Gene
  2. SIPA1L2 - signal induced proliferation associated 1 like 2 Gene

SIPA1L2 - signal induced proliferation associated 1 like 2 Gene

中文名称:信号诱导增殖相关 1 样 2

种属: Homo sapiens

同用名: SPAL2; SPAR2

基因 ID: 57568 | 基因类型: protein coding

关于 SIPA1L2

Cytogenetic location: 1q42.2 Genomic coordinates (GRCh38): 1:232,397,965-232,630,496 (from NCBI)

This gene has 11 transcripts (splice variants), 209 orthologues and 6 paralogues. Ubiquitous expression in heart (RPKM 11.7), placenta (RPKM 10.4) and 24 other tissues.

功能概要

该基因编码信号诱导增殖相关 1 样家族的成员。该家族的成员包含一个 GTPase 激活结构域、一个 PDZ 结构域和一个带有亮氨酸拉链的 C 末端卷曲螺旋结构域。大鼠中的一种类似蛋白质充当小 GTP 酶 Rap 的 GTP 酶。[RefSeq 提供,2015 年 9 月]

This gene encodes a member of the signal-induced proliferation-associated 1 like family. Members of this family contain a GTPase activating domain, a PDZ domain and a C-terminal coiled-coil domain with a leucine zipper. A similar protein in rat acts as a GTPases for the small GTPase Rap. [provided by RefSeq, Sep 2015]

SIPA1L2 基因产物(2)

mRNA Protein Name
NM_001377488.1 NP_001364417.1 signal-induced proliferation-associated 1-like protein 2 isoform 2
NM_020808.5 NP_065859.3 signal-induced proliferation-associated 1-like protein 2 isoform 1
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 protein binding IPI
IPI: 通过物理相互作用推断
25416956 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

SIPA1L2 蛋白结构

Rap_GAP

Rap_GAP: Rap/ran-GAP (624 - 812)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (951 - 1021)

SPAR_C

SPAR_C: C-terminal domain of SPAR protein (1421 - 1666)

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  • 1722 a.a.
蛋白主名 其他名称

signal-induced proliferation-associated 1-like protein 2

SIPA1-like protein 2

关联疾病

疾病名称 别名
Warburg Micro Syndrome 4

WARBM4

Micro Syndrome 4

Cortical Dysplasia, Complex, With Other Brain Malformations 6

Complex Cortical Dysplasia With Other Brain Malformations 6

CDCBM6

Cdcbm56

Dysplasia ,Cortical, Complex, With Other Brain Malformations, Type 6

Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

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 SIPA1L2 VGNC VGNC:65154
Rattus norvegicus SIPA1L2 RGD RGD:1306269
Bos taurus SIPA1L2 VGNC VGNC:34629
Canis familiaris SIPA1L2 VGNC VGNC:46181
Mus musculus SIPA1L2 MGD MGI:2676970
Macaca mulatta SIPA1L2 VGNC VGNC:106494