1. Gene
  2. AHCY - adenosylhomocysteinase Gene

AHCY - adenosylhomocysteinase Gene

中文名称:腺苷同型半胱氨酸酶

种属: Homo sapiens

同用名: SAHH; adoHcyase

基因 ID: 191 | 基因类型: protein coding

关于 AHCY

Cytogenetic location: 20q11.22 Genomic coordinates (GRCh38): 20:34,231,981-34,311,836 (from NCBI)

This gene has 6 transcripts (splice variants), 218 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 29.2), thyroid (RPKM 22.9) and 25 other tissues.

功能概要

S-腺苷同型半胱氨酸水解酶属于腺苷同型半胱氨酸酶家族。它催化 S-腺苷高半胱氨酸 (AdoHcy) 可逆水解为腺苷 (Ado) 和 L-高半胱氨酸 (Hcy) 。因此,它调节细胞内 S-腺苷高半胱氨酸 (SAH) 浓度,该浓度被认为对转甲基反应很重要。这种蛋白质的缺乏是高甲硫氨酸血症的不同原因之一。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2009 年 6 月]

S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. It catalyzes the reversible hydrolysis of S-adenosylhomocysteine (AdoHcy) to adenosine (Ado) and L-homocysteine (Hcy). Thus, it regulates the intracellular S-adenosylhomocysteine (SAH) concentration thought to be important for transmethylation reactions. Deficiency in this protein is one of the different causes of hypermethioninemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]

AHCY 基因产物(6)

mRNA Protein Name
NM_000687.4 NP_000678.1 adenosylhomocysteinase isoform 1
NM_001161766.2 NP_001155238.1 adenosylhomocysteinase isoform 2
NM_001322084.2 NP_001309013.1 adenosylhomocysteinase isoform 2
NM_001322085.2 NP_001309014.1 adenosylhomocysteinase isoform 2
NM_001322086.2 NP_001309015.1 adenosylhomocysteinase isoform 3
NM_001362750.2 NP_001349679.1 adenosylhomocysteinase 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 adenosylhomocysteinase activity IDA
IDA: 通过直接分析推断
10933798 GOA
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

AHCY 蛋白结构

AdoHcyase

AdoHcyase: S-adenosyl-L-homocysteine hydrolase (7 - 431)

AdoHcyase_NAD

AdoHcyase_NAD: S-adenosyl-L-homocysteine hydrolase, NAD binding domain (191 - 352)

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  • 432 a.a.
蛋白主名 其他名称

adenosylhomocysteinase

S-adenosyl-L-homocysteine hydrolase

AHCY 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
AHCY P23526 ANKRD40 Homo sapiens Q6AI12 25910212
种属内
AHCY P23526 ANKRD40 Homo sapiens Q6AI12 25910212
种属内
AHCY P23526 ANKRD40 Homo sapiens Q6AI12 25910212
种属内
AHCY P23526 ANKRD40 Homo sapiens Q6AI12 28514442
种属内
AHCY P23526 ANKRD40 Homo sapiens Q6AI12 33961781
种属内
AHCY P23526 C1orf50 Homo sapiens Q9BV19 25910212
种属内
AHCY P23526 C1orf50 Homo sapiens Q9BV19 25910212
种属内
AHCY P23526 C1orf50 Homo sapiens Q9BV19 33961781
种属内
AHCY P23526 C1orf50 Homo sapiens Q9BV19 32296183
种属内
AHCY P23526 C1orf50 Homo sapiens Q9BV19 28514442
种属内
AHCY P23526 C1orf50 Homo sapiens Q9BV19 32296183
种属内
AHCY P23526 C1orf50 Homo sapiens Q9BV19 25416956
种属内
AHCY P23526 C1orf50 Homo sapiens Q9BV19 32296183
种属内
AHCY P23526 C1orf50 Homo sapiens Q9BV19
SLC
25910212
种属内
AHCY P23526 C1orf50 Homo sapiens Q9BV19 25910212
种属内
AHCY P23526 C1orf50 Homo sapiens Q9BV19 25416956
种属内
AHCY P23526 APPBP2 Homo sapiens Q92624 25416956
种属内
AHCY P23526 APPBP2 Homo sapiens Q92624 25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 AHCY 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72073 AHCY Protein, Human (His-SUMO) P23526 (S2-Y432) ≥95%
HY-P72074 AICDA Protein, Mouse (His-Myc) Q9WVE0 (M1-F198) ≥95%

关联疾病

疾病名称 别名
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency

Hypermethioninemia With Deficiency Of S-Adenosylhomocysteine Hydrolase

Hypermethioninemia Due To S-Adenosylhomocysteine Hydrolase Deficiency

Psychomotor Retardation Due To S-Adenosylhomocysteine Hydrolase Deficiency

Psychomotor Delay Due To S-Adenosylhomocysteine Hydrolase Deficiency

HMAHCHD

Hypermethioninemia

Hepatic Methionine Adenosyltransferase Deficiency

Deficiency Of Methionine Adenosyltransferase

Glycine N-Methyltransferase Deficiency

Met

S-Adenosylhomocysteine Hydrolase Deficiency

Gnmt Deficiency

Mat Deficiency

Methionine Adenosyltransferase Deficiency

Methioninemia

Deficiency Of Acetyl-Coa Acetyltransferase

Endometrial Cancer

Endometrial Carcinoma

Endometrial Neoplasm

Malignant Neoplasm Of Endometrium

Endometrioid Carcinoma

Endometrial Neoplasms

Carcinoma, Endometrioid

Endometrial Cancer, Familial

Endometrial Carcinoma, Somatic

Endometrial Cancer, Susceptibility To

Endometrial Ca

Malignant Endometrial Neoplasm

Neoplasm Of Endometrium

Primary Malignant Neoplasm Of Endometrium

Tumor Of Endometrium

Carcinoma Of The Endometrium

Endometrioid Carcinoma Of Female Reproductive System

ENDMC

Carcinoma Endometrioid

Endometrial Cancers

Cancer, Endometrial

Uterine Corpus Cancer

Hyperhomocysteinemia
Adenosine Deaminase Deficiency

Ada Deficiency

Ada-Scid

Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency

Adenosine Deaminase Deficient Severe Combined Immunodeficiency

Scid Due To Ada Deficiency

Severe Combined Immunodeficiency Due To Ada Deficiency

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency

Ada

Scid Due To Adenosine Deaminase Deficiency

Copper Deficiency Myelopathy

Swayback

Human Swayback

Glycine N-Methyltransferase Deficiency

GNMT DEFICIENCY

Hypermethioninemia Due To Glycine N-Methyltransferase Deficiency

Hypermethioninemia Due To Gnmt Deficiency

Hypermethioninemia

Hepatic Methionine Adenosyltransferase Deficiency

Purine Nucleoside Phosphorylase Deficiency

Purine-Nucleoside Phosphorylase Deficiency

Pnp Deficiency

Nucleoside Phosphorylase Deficiency

Immunodeficiency Due To Purine Nucleoside Phosphorylase Deficiency

Deficiency Of Inosine Phosphorylase

Pnpase Deficiency

PNPD

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia

Alkaptonuria

Homogentisic Acid Oxidase Deficiency

Alcaptonuria

AKU

Deficiency Of Homogentisicase

Homogentisate 1,2-Dioxygenase Deficiency

Alkaptonuric Ochronosis

Homogentisic Acidura

Ochronosis, Hereditary

Hereditary Ochronosis

Ochronosis

Homogentisicaciduria

Deficiency Of Homogentisate Oxygenase

Tyrosinemia, Type I

Tyrosinemia Type I

Hepatorenal Tyrosinemia

Fumarylacetoacetase Deficiency

Fah Deficiency

TYRSN1

Fumarylacetoacetate Hydrolase Deficiency

Tyrosinemia Type 1

Tyrosinemia 1

Fumarylacetoacetase

Glycogen Storage Disease

Glycogenosis

Glycogenoses

Gsd

Storage Disease, Glycogen

Gsd - [Glycogen Storage Disease]

Glycogen Thesaurismosis

Diffuse Glycogenosis

Generalised Glycogen Storage Disease

Generalised Glycogenosis

Generalised Glycogen Storage Disease Of Infants

Glycogen Synthase Deficiency

Purine-Pyrimidine Metabolic Disorder

Inborn Errors Of Purine-Pyrimidine Metabolism

Disorder Of Purine Or Pyrimidine Metabolism

Severe Combined Immunodeficiency

Scid

Severe Combined Immunodeficiency Disease

Combined T And B Cell Inborn Immunodeficiency

Immunodeficiency, Severe Combined

Scid - [Severe Combined Immunodeficiencies]

Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors

Inborn Errors Of Amino Acid Metabolism

Disorder Of Amino Acid Metabolism

Amino Acid Metabolism Disorders

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 AHCY VGNC VGNC:79986
Macaca mulatta AHCY VGNC VGNC:84541
Mus musculus AHCY MGD MGI:87968
Bos taurus AHCY VGNC VGNC:25750
Rattus norvegicus AHCY RGD RGD:69260
Canis familiaris AHCY VGNC VGNC:37724
Others AHCY NCBI