1. Gene
  2. ADCY10 - adenylate cyclase 10 Gene

ADCY10 - adenylate cyclase 10 Gene

中文名称:腺苷酸环化酶 10

种属: Homo sapiens

同用名: SAC; HCA2; SACI; Sacy; hsAC; HEL-S-7a

基因 ID: 55811 | 基因类型: protein coding

关于 ADCY10

Cytogenetic location: 1q24.2 Genomic coordinates (GRCh38): 1:167,809,386-167,914,134 (from NCBI)

This gene has 5 transcripts (splice variants), 155 orthologues and is associated with 2 phenotypes. Restricted expression toward testis (RPKM 5.6).

功能概要

由该基因编码的蛋白质属于一类不同的腺苷酸环化酶,它是可溶的并且对 G 蛋白或毛喉素调节不敏感。这种蛋白质的活性受碳酸氢盐调节。已在吸收性高钙尿症患者中观察到该基因的变异。已经观察到编码不同亚型的可变剪接转录物变体。该基因在 6 号染色体上有一个假基因。[RefSeq 提供,2014 年 7 月]

The protein encoded by this gene belongs to a distinct class of adenylyl cyclases that is soluble and insensitive to G protein or forskolin regulation. Activity of this protein is regulated by bicarbonate. Variation at this gene has been observed in patients with absorptive hypercalciuria. Alternatively spliced transcript variants encoding different isoforms have been observed. There is a pseudogene of this gene on chromosome 6. [provided by RefSeq, Jul 2014]

ADCY10 基因产物(3)

mRNA Protein Name
NM_001167749.3 NP_001161221.1 adenylate cyclase type 10 isoform 2
NM_001297772.2 NP_001284701.1 adenylate cyclase type 10 isoform 3
NM_018417.6 NP_060887.2 adenylate cyclase type 10 isoform 1
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 adenylate cyclase activity IDA
IDA: 通过直接分析推断
12609998 GOA
enables bicarbonate binding IDA
IDA: 通过直接分析推断
24567411 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cAMP biosynthetic process IDA
IDA: 通过直接分析推断
12609998 GOA
involved in epithelial cilium movement involved in extracellular fluid movement IMP
IMP: 通过突变表型推断
17591988 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with microtubule cytoskeleton IDA
IDA: 通过直接分析推断
15659711 GOA
colocalizes with motile cilium IDA
IDA: 通过直接分析推断
17591988 GOA
located in nucleus IDA
IDA: 通过直接分析推断
15659711 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
15659711 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

ADCY10 蛋白结构

Guanylate_cyc

Guanylate_cyc: Adenylate and Guanylate cyclase catalytic domain (43 - 206)

Guanylate_cyc

Guanylate_cyc: Adenylate and Guanylate cyclase catalytic domain (289 - 417)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1610 a.a.
蛋白主名 其他名称

adenylate cyclase type 10

3',5'-cyclic AMP synthetase

关联疾病

疾病名称 别名
Hypercalciuria, Absorptive, 2

HCA2

Hypercalciuria, Absorptive, Susceptibility To

Hypercalciuria, Absorptive

Familial Idiopathic Hypercalciuria

Hypercalciuria, Familial Idiopathic

Hypercalciuria Absorptive 2

Hypercalciuria Familial Idiopathic

Hypercalciuria, Absorptive, Type 2

Hypercalciuria

Idiopathic Hypercalciuria
Platelet Adenylate Cyclase Activity
Cholera

Vibrio Cholerae Infection

Cholera - Vibrio Cholerae

Cholera Due To Vibrio Cholerae

Vibrio Cholerae

Cholera Syndrome

Asiatic Cholera

Epidemic Cholera

Pertussis

Whooping Cough

Bordetella Infections

Bordetella Infection

Bordetella Pertussis Infection

Wc - Whooping Cough

Whooping Cough Due To Unspecified Organism

Bordetellosis

Tussis Convulsiva

Whooping Cough, Unspecified Organism

Wc - [Whooping Cough]

Whooping Cough Due To B. Parapertussis

Infection Due To Bordetella Parapertussis

Pseudohypoparathyroidism, Type Ii

Pseudohypoparathyroidism Type 2

PHP2

Php Ii

Pseudohypoparathyroidism

Familial Pseudohypoparathyroidism

Parathyroid Hormone Resistant Hypoparathyroidism

Php - [Pseudohypoparathyroidism]

Constitutional Chronic Hypocalcaemia

Morphine Dependence
Anthrax Disease

Anthrax

Ragpicker'S Disease

Black Baine

Malignant Edema

Malignant Pustule

Siberian Plague

Wool Sorter'S Disease

Gas Gangrene

Cutaneous Anthrax

Anthrax Infection

Splenic Fever

Orofaciodigital Syndrome Iv

OFD4

Baraitser-Burn Syndrome

Orofaciodigital Syndrome 4

Ofd Syndrome With Tibial Defects

Mohr-Majewski Syndrome

Ofds Iv

Oral-Facial-Digital Syndrome, Type Iv

Ofd Syndrome, Baraitser-Burn Type

Oral-Facial-Digital Syndrome Type 4

Ofd Syndrome 4

Ofds 4

Oral Facial Digital Syndrome 4

Oral Facial Digital Syndrome Type 4

Orofaciodigital Syndrome With Tibial Dysplasia

Orofaciodigital Syndrome Type 4

Ofd Syndrome Baraitser-Burn Type

Oral-Facial-Digital Syndrome 4

Orofaciodigital Syndrome, Type Iv

Juvenile Dermatitis Herpetiformis
Shipyard Eye

Epidemic Keratoconjunctivitis

Ekc

Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Pheochromocytoma

Pheochromocytoma, Susceptibility To

Phaeochromocytoma

Adrenal Gland Chromaffin Paraganglioma

Adrenal Gland Chromaffinoma

Adrenal Gland Paraganglioma

Adrenal Gland Pheochromocytoma

Chromaffin Paraganglioma Of The Adrenal Gland

Intraadrenal Paraganglioma

PCC

Chromaffin Cell Tumor

Medullary Chromaffinoma

Medullary Paraganglioma

Pheochromoblastoma

Pheochromocytomas

Chromaffin Cell Neoplasm

Pheochromocytoma, Malignant

Korean Hemorrhagic Fever

Hemorrhagic Fever With Renal Syndrome

Inflammatory Bowel Disease 16

IBD16

Inflammatory Bowel Disease 16, Susceptibility To

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Hypermethioninemia Due To Adenosine Kinase Deficiency

Adk Hypermethioninemia

Hypermethioninemia Encephalopathy Due To Adenosine Kinase Deficiency

Hypermethioninemia Encephalopathy Due To Adk Deficiency

Mrt8

Mental Retardation, Autosomal Recessive 8, Formerly

Mrt8, Formerly

HMAKD

Mental Retardation, Autosomal Recessive 8

Hemophagocytic Lymphohistiocytosis, Familial, 3

Familial Hemophagocytic Lymphohistiocytosis 3

FHL3

Hplh3

Hlh3

Lymphohistiocytosis, Hemophagocytic, Familial, Type 3

Osteogenic Sarcoma

Osteosarcoma

OSRC

Osteosarcoma, Somatic

Neoplasms, Bone Tissue

Bone Tissue Neoplasm

Osteoid Sarcoma

Skeletal Sarcoma

Osteosarcoma Of Bone

Bone Sarcoma

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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
Rattus norvegicus ADCY10 RGD RGD:708450
Mus musculus ADCY10 MGD MGI:2660854
Felis catus ADCY10 VGNC VGNC:59614
Bos taurus ADCY10 VGNC VGNC:53843
Canis familiaris ADCY10 VGNC VGNC:53325
Macaca mulatta ADCY10 VGNC VGNC:69491