1. Gene
  2. ATP6AP1 - ATPase H+ transporting accessory protein 1 Gene

ATP6AP1 - ATPase H+ transporting accessory protein 1 Gene

中文名称:ATPase H+ 转运辅助蛋白 1

种属: Homo sapiens

同用名: 16A; CF2; Ac45; XAP3; XAP-3; ATP6S1; VATPS1; ATP6IP1

基因 ID: 537 | 基因类型: protein coding

关于 ATP6AP1

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:154,428,677-154,436,516 (from NCBI)

This gene has 14 transcripts (splice variants), 274 orthologues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 59.1), thyroid (RPKM 48.0) and 25 other tissues.

功能概要

该基因编码介导真核细胞内细胞器酸化的多亚基酶的一个组分。液泡 ATP 酶 (V-ATPase) 由胞质 V1 (ATP 催化位点的位点) 和跨膜 V0 结构域组成。 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。该基因编码的蛋白质可能有助于 V-ATPase 介导的神经内分泌颗粒酸化。这种蛋白质也可能在早期发育中发挥作用。[RefSeq 提供,2013 年 8 月]

This gene encodes a component of a multisubunit Enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. This protein may also play a role in early development. [provided by RefSeq, Aug 2013]

ATP6AP1 基因产物(1)

mRNA Protein Name
NM_001183.6 NP_001174.2 V-type proton ATPase subunit S1 precursor

ATP6AP1 蛋白结构

ATP-synt_S1

ATP-synt_S1: Vacuolar ATP synthase subunit S1 (ATP6S1) (44 - 449)

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  • 470 a.a.
蛋白主名 其他名称

V-type proton ATPase subunit S1

ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1

关联疾病

疾病名称 别名
Immunodeficiency 47

Congenital Disorder Of Glycosylation Type Ii

CDG2E

Congenital Disorder Of Glycosylation Type Iie

IMD47

Cdg2s

Cdg Iis

Cdgiis

Immunodeficiency And Hepatopathy With Or Without Neurologic Features

Congenital Disorder Of Glycosylation, Type Ii

CDG1I

Congenital Disorder Of Glycosylation, Type Iie

Cdg Iie

Congenital Disorder Of Glycosylation Type 2e

Congenital Disorder Of Glycosylation, Type Iis

Cdg Ii

Cdgii

Cdgiie

Carbohydrate Deficient Glycoprotein Syndrome Type Iie

Cdg Syndrome Type Iie

Congenital Disorder Of Glycosylation Ii

Congenital Disorder Of Glycosylation 1i

Cdg-Iie

Alg2-Cdg

Cdg-Ii

Glycosylation, Congenital Disorder Of, Type Ii

Cdgiide

Congenital Disorder Of Glycosylation Type Iis

Cog7-Cdg

Cdg Syndrome Type Ii

Carbohydrate Deficient Glycoprotein Syndrome Type Ii

Congenital Disorder Of Glycosylation Type 1i

Mannosyltransferase 2 Deficiency

Congenital Disorder Of Glycosylation 2e

Congenital Disorder Of Glycosylation 2s

Congenital Disorders Of Glycosylation Type Ii

Glycosylation, Congenital Disorder Of, Type Iie

Immunodeficiency, Type 47

Congenital Disorder Of Glycosylation Type 2a

Congenital Disorder Of Glycosylation, Type Iip

CDG2P

Tmem199-Cdg

Cdg Iip

Congenital Disorder Of Glycosylation Type Iip

Cdgiip

Carbohydrate Deficient Glycoprotein Syndrome Type Iip

Cdg Syndrome Type Iip

Congenital Disorder Of Glycosylation Type 2p

Cdg-Iip

Cdgiidp

Congenital Disorder Of Glycosylation 2p

Breast Granular Cell Tumor
Congenital Disorder Of Glycosylation, Type Iio

CDG2O

Ccdc115-Cdg

Cdg Iio

Congenital Disorder Of Glycosylation Type Iio

Cdgiio

Carbohydrate Deficient Glycoprotein Syndrome Type Iio

Cdg Syndrome Type Iio

Congenital Disorder Of Glycosylation Type 2o

Cdg-Iio

Cdgiido

Congenital Disorder Of Glycosylation 2o

Glycosylation, Congenital Disorder Of, Type Iio

Myasthenic Syndrome, Congenital, 15

Congenital Myasthenic Syndrome 15

CMS15

Myasthenic Syndrome, Congenital, Without Tubular Aggregates

Cmswta

Myasthenic Syndrome, Congenital, 15, Without Tubular Aggregates

Congenital Myasthenic Syndrome 15 Without Tubular Aggregates

Myasthenic Syndrome, Congenital, Type 15, Without Tubular Aggregates

Cutis Laxa

Generalized Elastolysis

Loose Skin

Dermatolysis

Dermatomegaly

Cutis Laxa Syndrome

Bladder Leiomyoma

Leiomyoma Of The Urinary Bladder

Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome 9

CMS9

Congenital Myasthenic Syndrome 9, Associated With Acetylcholine Receptor Deficiency

Myasthenic Syndrome, Congenital, Type 9, Associated With Acetylcholine Receptor Deficiency

Neonatal Jaundice

Neonatal Hyperbilirubinemia

Neonatal Icterus

Jaundice Neonatal

Jaundice, Neonatal

Hyperbilirubinemia, Neonatal

Autosomal Recessive Cutis Laxa Type Ii Classic Type

Arcl2, Classic Type

Arcl2, Debre Type

Autosomal Recessive Cutis Laxa Type 2, Classic Type

Autosomal Recessive Cutis Laxa Type 2, Debre Type

Fructose Intolerance, Hereditary

Hereditary Fructose Intolerance

Fructose Intolerance

Fructose-1-Phosphate Aldolase Deficiency

Fructose-1,6-Bisphosphate Aldolase B Deficiency

Aldolase B Deficiency

Fructosemia

Aldob Deficiency

Hereditary Fructose Intolerance Syndrome

HFI

Fructosaemia

Hereditary Fructose-1-Phosphate Aldolase Deficiency

Fructose Aldolase B Deficiency

Fructose-1,6-Biphosphate Aldolase Deficiency

Hereditary Fructosemia

Fructosemia, Hereditary

Hereditary Fructosaemia

Fructose-Biphosphate Aldolase B Deficiency

Fructose Intolerance Of Newborn

Aldb - [Aldolase B] Deficiency

Deficiency Of Fructose-Bisphosphate Aldolase

Parkinsonism With Spasticity, X-Linked

X-Linked Parkinsonism-Spasticity Syndrome

XPDS

X-Linked Parkinsonism With Spasticity

Hypokalemia

Potassium Deficiency

Potassium Deficiency Disorder

Hypopotassemia

Potassium

Potassium [K] Deficiency

Hypokalaemic Syndrome

Hypopotassaemia

Hypopotassaemia Syndrome

Hypokalaemic

Potassium Depletion

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation

CDG1N

Congenital Disorders Of Glycosylation

Cdg In

Cdgin

Congenital Disorder Of Glycosylation 1n

Carbohydrate-Deficient Glycoprotein Syndrome

Cdg

Rft1-Cdg

Cdg-In

Congenital Disorder Of Glycosylation Type In

Carbohydrate Deficient Glycoprotein Syndrome

Cdg Syndrome

Congenital Disorder Of Glycosylation In

Carbohydrate-Deficient Glycoprotein Syndromes

Cdg Syndrome Type In

Carbohydrate Deficient Glycoprotein Syndrome Type In

Congenital Disorder Of Glycosylation Type 1n

Man5glcnac2-Pp-Dol Flippase Deficiency

Glycosylation, Congenital Disorder Of

Glycosylation, Congenital Disorder Of, Type In

Frontotemporal Dementia

Pallidopontonigral Degeneration

Frontotemporal Lobar Degeneration

Semantic Dementia

FTD

Frontotemporal Lobe Dementia

Multiple System Tauopathy With Presenile Dementia

Dementia, Frontotemporal

Frontotemporal Dementia With Parkinsonism

Mstd

Frontotemporal Lobar Degeneration With Tau Inclusions

Ftld With Tau Inclusions

Dementia, Frontotemporal, With Parkinsonism

Fldem

Ftdp17

Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

Ddpac

Wilhelmsen-Lynch Disease

Wld

Ppnd

Dementia, Frontotemporal, With Or Without Parkinsonism

Semantic Primary Progressive Aphasia

Semantic Variant Ppa

Wilhemsen-Lynch Disease

Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

Ftd-Als

Ftld

Pick Complex

Pick Disease Of The Brain

Frontotemporal Dementia With Parkinsonism-17

Grn-Related Frontotemporal Dementia

Frontotemporal Dementia With Motor Neuron Disease

Dementia In Fronto-Temporal Lobar Degeneration

Ftd - [Frontotemporal Dementia]

Temple Dementia

Frontal Lobe Dementia

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 ATP6AP1 VGNC VGNC:38266
Rattus norvegicus ATP6AP1 RGD RGD:620423
Mus musculus ATP6AP1 MGD MGI:109629
Felis catus ATP6AP1 VGNC VGNC:68720
Macaca mulatta ATP6AP1 VGNC VGNC:70190
Bos taurus ATP6AP1 VGNC VGNC:26306