2. Gene
  3. KIRREL1 - kirre like nephrin family adhesion molecule 1 Gene

KIRREL1 - kirre like nephrin family adhesion molecule 1 Gene

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

中文名称：kirre 样 nephrin 家族粘附分子 1

种属: Homo sapiens

同用名: NEPH1; KIRREL; NPHS23

基因 ID: 55243 | 基因类型: protein coding

关于 KIRREL1

Cytogenetic location: 1q23.1 Genomic coordinates (GRCh38): 1:157,993,645-158,100,262 (from NCBI)

This gene has 4 transcripts (splice variants), 280 orthologues, 3 paralogues and is associated with 1 phenotype. Ubiquitous expression in placenta (RPKM 3.8), gall bladder (RPKM 3.0) and 22 other tissues.

功能概要

NEPH1 是 nephrin 样蛋白家族的成员，该家族包括 NEPH2 (MIM 607761) 和 NEPH3 (MIM 607762) 。这些蛋白质的细胞质结构域与 podocin (NPHS2; MIM 604766) 的 C 末端相互作用，并且这些基因在肾脏足细胞中表达，这些细胞参与确保大小和电荷选择性超滤 (Sellin 等人，2003 [PubMed 12424224] ]) .[OMIM 提供，2008 年 3 月]

NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM, Mar 2008]

KIRREL1 基因产物(2)

mRNA Protein Name
NM_001286349.2 NP_001273278.1 kin of IRRE-like protein 1 isoform 2 precursor
NM_018240.7 NP_060710.3 kin of IRRE-like protein 1 isoform 1 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables myosin binding IPI
IPI: 通过物理相互作用推断
21402783 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21402783 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell-cell junction maintenance IMP
IMP: 通过突变表型推断
31472902 GOA
involved in glomerular filtration IMP
IMP: 通过突变表型推断
31472902 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell-cell junction IDA
IDA: 通过直接分析推断
21402783 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
21402783 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
21402783 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

KIRREL1 蛋白结构

I-set

I-set: Immunoglobulin I-set domain (22 - 116)

C2-set_2

C2-set_2: CD80-like C2-set immunoglobulin domain (134 - 205)

Ig_2

Ig_2: Immunoglobulin domain (226 - 305)

Ig_2

Ig_2: Immunoglobulin domain (311 - 385)

Ig_3

Ig_3: Immunoglobulin domain (392 - 476)

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

kin of IRRE-like protein 1

kin of IRRE like

KIRREL1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
KIRREL1 Q96J84 TJP1 Homo sapiens Q07157
Anti Tag CoIP
22262837
种属内
KIRREL1 Q96J84 TJP1 Homo sapiens Q07157
Anti Bait CoIP
22262837
种属内
KIRREL1 Q96J84 TJP1 Homo sapiens Q07157
SAXS
22262837
种属内
KIRREL1 Q96J84 TJP1 Homo sapiens Q07157
GMS
22262837
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 KIRREL1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76467 Kirrel1/NEPH1 Protein, Human (HEK293, Fc) Q96J84-1 (Q17-L493) ≥95%
HY-P76468 Kirrel1/NEPH1 Protein, Human (HEK293, His) Q96J84-1 (Q17-L493) ≥95%

关联疾病

疾病名称 别名
Nephrotic Syndrome, Type 23

NPHS23

Nephrotic Syndrome Type 23

Nephrotic Syndrome 23
Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis
Nephrotic Syndrome, Type 1

Finnish Congenital Nephrosis

NPHS1

Cnf

Finnish Congenital Nephrotic Syndrome

Nephrotic Syndrome Type 1

Nephrosis, Congenital

Congenital Nephrotic Syndrome

Nephrotic Syndrome, Congenital

Congenital Nephrotic Syndrome Finnish Type

Congenital Nephrotic Syndrome 1

Nephrosis 1, Congenital, Finnish Type

Congenital Nephrotic Syndrome, Finnish Type

Nephrotic Syndrome 1

Congenital Nephrotic Syndrome Of The Finnish Type
Familial Nephrotic Syndrome

Congenital Nephrotic Syndrome

Nephrosis, Congenital

Finnish Congenital Nephrotic Syndrome
Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Chronic Kidney Disease

Chronic Renal Disease

Chronic Kidney Failure

Ckd

Chronic Renal Failure

Kidney Failure, Chronic

Chronic Renal Failure Syndrome

Crf

Renal Failure - Chronic

Renal Failure Chronic

Chronic Kidney Diseases

Chronic Kidney Disease Stage 5

Ckd - [Chronic Kidney Disease]

Crf - [Chronic Renal Failure]

Chronic Kidney Impairment

Chronic Renal Impairment

Chronic Kidney Shutdown

Chronic Hypoxic Kidney Failure

Chronic Kidney Collapse

Chronic Renal Insufficiency

Chronic Kidney Toxaemia

Chronic Kidney Hypofunction

Chronic Renal Suppression

Chronic Renal Failure, Stage 5

Ckd - [Chronic Kidney Disease] Stage 5

End Stage Kidney Failure

End Stage Renal Failure

End Stage Kidney Disease

End Stage Renal Disease

End Stage Chronic Renal Failure

Esrf - [End Stage Renal Failure]

Esrd - [End Stage Renal Diseases]

Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²
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-RS07312 KIRREL1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus KIRREL1 MGD MGI:1891396
Felis catus KIRREL1 VGNC VGNC:63122
Canis familiaris KIRREL1 VGNC VGNC:42418
Macaca mulatta KIRREL1 VGNC VGNC:73837
Rattus norvegicus KIRREL1 RGD RGD:727883
Bos taurus KIRREL1 VGNC VGNC:30614
Others KIRREL1 NCBI
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