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  2. TCIRG1 - T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 Gene

TCIRG1 - T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 Gene

中文名称:T 细胞免疫调节因子 1,ATPase H+ 转运 V0 亚基 a3

种属: Homo sapiens

同用名: a3; Stv1; Vph1; Atp6i; OC116; OPTB1; TIRC7; ATP6N1C; ATP6V0A3; OC-116kDa

基因 ID: 10312 | 基因类型: protein coding

关于 TCIRG1

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:68,039,025-68,053,762 (from NCBI)

This gene has 22 transcripts (splice variants), 229 orthologues, 3 paralogues and is associated with 5 phenotypes. Ubiquitous expression in bone marrow (RPKM 27.5), spleen (RPKM 26.3) and 25 other tissues.

功能概要

该基因编码称为液泡 H+-ATP 酶 (V-ATPase) 的大型蛋白质复合物的一个亚基。蛋白质复合物充当将质子移动穿过膜的泵。质子的这种运动有助于调节细胞及其周围环境的 pH 值。 V-ATPase 依赖性细胞器酸化对于蛋白质分选、酶原激活和受体介导的内吞作用等细胞内过程是必需的。 V-ATPase 由胞质 V1 结构域和跨膜 V0 结构域组成。可变剪接导致多个转录本变体。该基因的突变与婴儿恶性骨硬化病有关。[RefSeq 提供,2017 年 5 月]

This gene encodes a subunit of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). The protein complex acts as a pump to move protons across the membrane. This movement of protons helps regulate the pH of cells and their surrounding environment. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Alternative splicing results in multiple transcript variants. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, May 2017]

TCIRG1 基因产物(3)

mRNA Protein Name
NM_001351059.2 NP_001337988.1 V-type proton ATPase 116 kDa subunit a 3 isoform c
NM_006019.4 NP_006010.2 V-type proton ATPase 116 kDa subunit a 3 isoform a
NM_006053.4 NP_006044.1 V-type proton ATPase 116 kDa subunit a 3 isoform b

TCIRG1 蛋白结构

V_ATPase_I

V_ATPase_I: V-type ATPase 116kDa subunit family (26 - 825)

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

V-type proton ATPase 116 kDa subunit a 3

ATPase, H+ transporting, 116kD

关联疾病

疾病名称 别名
Osteopetrosis, Autosomal Recessive 1

OPTB1

Autosomal Recessive Osteopetrosis 1

Autosomal Recessive Albers-Schonberg Disease

Infantile Malignant Osteopetrosis

Osteopetrosis, Infantile Malignant 1

Marble Bones, Autosomal Recessive

Albers-Schonberg Disease, Autosomal Recessive

Infantile Malignant Osteopetrosis 1

Osteopetrosis Autosomal Recessive 1

Autosomal Recessive Osteopetrosis Type 1

Marble Bones Autosomal Recessive

Osteopetrosis Infantile Malignant 1

Osteopetrosis, Autosomal Recessive, Type 1

Osteopetrosis

Marble Bone Disease

Albers-Schonberg Disease

Osteopetroses

Marble Bones

Osteopetrosis And Related Disorders

Congenital Osteopetrosis

Marble Bone

Albers-Schoenberg Disease

Albers-Schonberg Osteopetrosis

Osteosclerosis Fragilis

Ivory Bones

Neutropenia, Severe Congenital, 1, Autosomal Dominant

SCN1

Neutropenia, Severe Congenital 1, Autosomal Dominant

Neutropenia, Severe Congenital, Autosomal Dominant 1

Osteopetrosis, Autosomal Recessive 6

OPTB6

Autosomal Recessive Osteopetrosis 6

Autosomal Recessive Osteopetrosis Intermediate Form

Osteopetrosis, Autosomal Recessive, Intermediate Form

Osteopetrosis Autosomal Recessive 6

Autosomal Recessive Osteopetrosis Type 6

Osteopetrosis Autosomal Recessive Intermediate Form

Intermediate Osteopetrosis

Autosomal Recessive Intermediate Osteopetrosis

Osteopetrosis, Autosomal Recessive, Type 6

Dysosteosclerosis
Severe Congenital Neutropenia

Congenital Neutropenia

Neutropenia, Severe Congenital

Congenital Agranulocytosis

Infantile Genetic Agranulocytosis

Kostmann Disease

Kostmann'S Agranulocytosis

Kostmann'S Syndrome

Severe Infantile Genetic Neutropenia

Autosomal Recessive Malignant Osteopetrosis

Infantile Malignant Osteopetrosis

Autosomal Dominant Severe Congenital Neutropenia

Severe Congenital Neutropenia Autosomal Dominant

Neutropenia, Congenital, Severe, Autosomal Dominant

Endosteal Hyperostosis, Autosomal Dominant

Osteosclerosis

Worth Syndrome

Osteosclerosis, Autosomal Dominant

Hyperostosis, Endosteal

Endosteal Hyperostosis, Worth Type

Worth Disease

Autosomal Dominant Endosteal Hyperostosis

Autosomal Dominant Osteosclerosis, Worth Type

Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus

Autosomal Dominant Osteosclerosis

Benign Form Of Worth Hyperostosis Corticalis Generalisata With Torus Platinus

Worth'S Syndrome

Worth Type Autosomal Dominant Osteosclerosis

Hyperostosis Corticalis Generalisata, Benign Form Of Worth With Torus Palatinus

Osteosclerosis, Autosomal Dominant, Worth Type

WENHY

Endosteal Hyperostosis Autosomal Dominant

Hyperostosis Corticalis Generalisata Benign Form Of Worth With Torus Palatinus

Osteosclerosis Autosomal Dominant

Acquired Osteosclerosis

Beach Ear

Acute Swimmer'S Ear

Acute Bacterial Inflammation Of External Ear

Acute Otitis Externa, Diffuse

Acute Swimmers' Ear

Tank Ear

Osteopetrosis, Autosomal Recessive 7

OPTB7

Autosomal Recessive Osteopetrosis 7

Autosomal Recessive Osteoclast-Poor Osteopetrosis With Hypogammaglobulinemia

Autosomal Recessive Osteopetrosis Type 7

Osteoclast-Poor Osteopetrosis With Hypogammaglobulinemia

Osteopetrosis-Hypogammaglobulinemia Syndrome

Osteopetrosis, Osteoclast-Poor, With Hypogammaglobulinemia

Osteopetrosis Autosomal Recessive 7

Osteopetrosis Osteoclast-Poor With Hypogammaglobulinemia

Osteopetrosis, Autosomal Recessive, Type 7

Osteopetrosis, Autosomal Recessive 3

Osteopetrosis With Renal Tubular Acidosis

Marble Brain Disease

OPTB3

Guibaud-Vainsel Syndrome

Carbonic Anhydrase Ii Deficiency

Osteopetrosis, Autosomal Recessive 3, With Renal Tubular Acidosis

Autosomal Recessive Osteopetrosis 3

Carbonic Anhydrase 2 Deficiency

Autosomal Recessive Osteopetrosis 3 With Renal Tubular Acidosis

Osteopetrosis Autosomal Recessive 3

Autosomal Recessive Osteopetrosis Type 3

Guibaud Vainsel Syndrome

Mixed Rta

Mixed Renal Tubular Acidosis

Renal Tubular Acidosis Type 3

Carbonic Anhydrase Ii Deficiency Syndrome

Carbonic Anhydrase Ii Variant

Osteopetrosis, Autosomal Recessive, Type 3

Carbonic Anhydrase 2

Osteopetrosis, Autosomal Recessive 2

OPTB2

Autosomal Recessive Osteopetrosis 2

Osteopetrosis, Mild Autosomal Recessive Form

Osteoclast-Poor Osteopetrosis

Osteopetrosis, Osteoclast-Poor

Mild Autosomal Recessive Form Osteopetrosis

Osteopetrosis Autosomal Recessive 2

Autosomal Recessive Osteopetrosis Type 2

Osteopetrosis Osteoclast-Poor

Osteopetrosis, Autosomal Recessive, Type 2

Osteopetrosis, Autosomal Recessive 4

Autosomal Recessive Osteopetrosis 4

OPTB4

Infantile Malignant Osteopetrosis 2

Osteopetrosis, Infantile Malignant 2

Osteopetrosis, Autosomal Recessive, Type 4

Axial Osteomalacia

Atypical Osteomalacia Involving The Axial Skeleton

Osteopetrosis, Autosomal Recessive 5

OPTB5

Autosomal Recessive Osteopetrosis 5

Infantile Malignant Osteopetrosis 3

Osteopetrosis, Infantile Malignant 3

Osteopetrosis Autosomal Recessive 5

Osteopetrosis And Infantile Neuroaxonal Dystrophy

Autosomal Recessive Osteopetrosis Type 5

Osteopetrosis Infantile Malignant 3

Osteopetrosis, Autosomal Recessive, Type 5

Osteopetrosis, Autosomal Dominant 2

OPTA2

Autosomal Dominant Osteopetrosis 2

Osteopetrosis Autosomal Dominant Type 2

Osteopetrosis, Autosomal Dominant, Type Ii

Albers-Schonberg Osteopetrosis

Autosomal Dominant Albers-Schonberg Disease

Osteopetrosis

Marble Bones, Autosomal Dominant

Osteosclerosis Fragilis Generalisata

Albers-Schonberg Disease, Autosomal Dominant

Autosomal Dominant Osteopetrosis Type Ii

Albers-Schönberg Osteopetrosis

Autosomal Dominant Osteopetrosis Type 2

Marble Disease Autosomal Dominant

Osteopetrosis, Autosomal Dominant, Type 2

Pycnodysostosis

Pyknodysostosis

PKND

Pycd

Toulouse-Lautrec Syndrome

Osteopetrosis, Autosomal Recessive 8

Autosomal Recessive Osteopetrosis 8

OPTB8

Osteopetrosis, Autosomal Recessive, Type 8

Distal Renal Tubular Acidosis

Classic Rta

Familial Distal Primary Acidosis

Renal Tubular Acidosis Type 1

Drta

Renal Tubular Acidosis, Distal

Syndromic X-Linked Intellectual Disability Hedera Type

Mental Retardation, X-Linked, Syndromic, Hedera Type

Mrxe

Mrxsh

Fibrogenesis Imperfecta Ossium

Baker'S Disease

Renal Tubular Acidosis

Acidosis Renal Tubular

Acidosis, Renal Tubular

Lightwood-Albright Syndrome

Lightwood Syndrome

Idiopathic Infantile Hypercalcemia - Mild Form

Kidney Tubular Acidosis

Renal Tubule Acidosis

Kidney Acidosis

Renal Acidosis

Renal Hyperchloremic Acidosis

Rta - [Renal Tubular Acidosis]

Craniodiaphyseal Dysplasia

CDD

Schaefer Stein Oshman Syndrome

Craniodiaphyseal Dysplasia, Dominant

Dominantly Inherited Craniodiaphyseal Dysplasia

Craniometaphyseal Dysplasia, Autosomal Dominant

Craniometaphyseal Dysplasia

CMDD

Cmdj

Cmd

Autosomal Dominant Craniometaphyseal Dysplasia

Craniometaphyseal Dysplasia, Jackson Type

Craniometaphyseal Dysplasia Jackson Type

Autosomal Recessive Craniometaphyseal Dysplasia

Cmdr

Dysplasia, Craniometaphyseal, Autosomal Dominant

Craniometaphyseal Dysplasia, Autosomal Recessive Type

Bone Remodeling Disease
Osteoporosis

Postmenopausal Osteoporosis

Osteoporosis, Postmenopausal

Bone Mineral Density Quantitative Trait Locus

Bmnd

Osteoporosis, Involutional

Osteoporosis, Susceptibility To

Osteoporosis, Postmenopausal, Susceptibility

Bone Mineral Density Variation Qtl, Osteoporosis

OSTEOP

Involutional Osteoporosis

Senile Osteoporosis

Osteoporosis Postmenopausal

Bone Mineral Density, Quantitative Trait Locus

Osteoporosis, Senile

Idiopathic Osteoporosis

Bone Rarefaction Nos

Type 1 Osteoporosis

Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

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
Canis familiaris TCIRG1 VGNC VGNC:47203
Bos taurus TCIRG1 VGNC VGNC:56298
Macaca mulatta TCIRG1 VGNC VGNC:78291
Felis catus TCIRG1 VGNC VGNC:66031
Rattus norvegicus TCIRG1 RGD RGD:735136
Mus musculus TCIRG1 MGD MGI:1350931