1. Gene
  2. AHCYL1 - adenosylhomocysteinase like 1 Gene

AHCYL1 - adenosylhomocysteinase like 1 Gene

中文名称:腺苷同型半胱氨酸酶样 1

种属: Homo sapiens

同用名: DCAL; IRBIT; PPP1R78; PRO0233; XPVKONA

基因 ID: 10768 | 基因类型: protein coding

关于 AHCYL1

Cytogenetic location: 1p13.3 Genomic coordinates (GRCh38): 1:109,984,765-110,023,742 (from NCBI)

This gene has 6 transcripts (splice variants), 275 orthologues and 2 paralogues. Ubiquitous expression in brain (RPKM 81.1), duodenum (RPKM 50.1) and 25 other tissues.

功能概要

该基因编码的蛋白质与 1 型肌醇 1,4,5-三磷酸受体相互作用,可能参与 S-腺苷-L-高半胱氨酸向 L-高半胱氨酸和腺苷的转化。已发现该基因编码两种不同亚型的几种转录变体。[RefSeq 提供,2011 年 6 月]

The protein encoded by this gene interacts with inositol 1,4,5-trisphosphate receptor, type 1 and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

AHCYL1 基因产物(5)

mRNA Protein Name
NM_001242673.2 NP_001229602.1 S-adenosylhomocysteine hydrolase-like protein 1 isoform b
NM_001242674.2 NP_001229603.1 S-adenosylhomocysteine hydrolase-like protein 1 isoform b
NM_001242675.2 NP_001229604.1 S-adenosylhomocysteine hydrolase-like protein 1 isoform b
NM_001242676.2 NP_001229605.1 S-adenosylhomocysteine hydrolase-like protein 1 isoform b
NM_006621.7 NP_006612.2 S-adenosylhomocysteine hydrolase-like protein 1 isoform a

AHCYL1 蛋白结构

AdoHcyase

AdoHcyase: S-adenosyl-L-homocysteine hydrolase (104 - 529)

AdoHcyase_NAD

AdoHcyase_NAD: S-adenosyl-L-homocysteine hydrolase, NAD binding domain (289 - 449)

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  • 530 a.a.
蛋白主名 其他名称

S-adenosylhomocysteine hydrolase-like protein 1

DC-expressed AHCY-like molecule

关联疾病

疾病名称 别名
Intestinal Impaction
Spinocerebellar Ataxia 29

Spinocerebellar Ataxia Type 29

SCA29

Cnpca

Cerebellar Vermis Aplasia

Aplasia Of Cerebellar Vermis

Acv

Cerebellar Ataxia, Congenital Nonprogressive, Autosomal Dominant

Spinocerebellar Ataxia 29, Congenital Nonprogressive

Congenital Nonprogressive Spinocerebellar Ataxia

Autosomal Dominant Congenital Nonprogressive Cerebellar Ataxia

Ataxia, Spinocerebellar, Type 29, Congenital Nonprogressive

Familial Aplasia Of The Vermis

Cerebral Palsy, Ataxic, Autosomal Recessive

Ataxic Cerebral Palsy

Acp

Hypotonic Cerebral Palsy

Cerebral Palsy Ataxic

Cerebral Palsy, Atonic

Congenital Cerebral Palsy With Ataxia

Ataxic Cerebral Paralysis

Ataxia With Cerebral Palsy

Cerebral Infantile Diataxia

Spinocerebellar Ataxia, Autosomal Recessive 13

Autosomal Recessive Spinocerebellar Ataxia 13

SCAR13

Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency

Autosomal Recessive Congenital Cerebellar Ataxia Due To Metabotropic Glutamate Receptor 1 Deficiency

Autosomal Recessive Spinocerebellar Ataxia Type 13

Spinocerebellar Ataxia, Autosomal Recessive, 13

Ataxia, Spinocerebellar, Autosomal Recessive, Type 13

Hypogonadotropic Hypogonadism 6 With Or Without Anosmia

HH6

Kallmann Syndrome 6

Kal6

Hypogonadotropic Hypogonadism, Type 6 With/Without Anosmia

Gillespie Syndrome

GLSP

Aniridia, Cerebellar Ataxia And Mental Deficiency

Aniridia Cerebellar Ataxia Mental Deficiency

Aniridia, Cerebellar Ataxia, And Mental Retardation

Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome

Aniridia-Cerebellar Ataxia-Intellectual Disability

Aniridia-Cerebellar Ataxia-Mental Deficiency

Partial Aniridia-Cerebellar Ataxia-Oligophrenia

Aniridia, Cerebellar Ataxia, And Intellectual Disability

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 AHCYL1 VGNC VGNC:37725
Felis catus AHCYL1 VGNC VGNC:80130
Rattus norvegicus AHCYL1 RGD RGD:1309768
Mus musculus AHCYL1 MGD MGI:2385184
Macaca mulatta AHCYL1 VGNC VGNC:81350
Bos taurus AHCYL1 VGNC VGNC:25751