1. Gene
  2. AHCYL1 - adenosylhomocysteinase like 1 Gene

AHCYL1 - adenosylhomocysteinase like 1 Gene

Homo sapiens

Also known as DCAL; IRBIT; PPP1R78; PRO0233; XPVKONA

Gene ID: 10768 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

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.
Protein Preferred Names Protein Names

S-adenosylhomocysteine hydrolase-like protein 1

DC-expressed AHCY-like molecule

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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