ALDH16A1 - aldehyde dehydrogenase 16 family member A1 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 126133

About ALDH16A1

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:49,453,225-49,471,050 (from NCBI)

This gene has 8 transcripts (splice variants), 184 orthologues and 17 paralogues. Ubiquitous expression in spleen (RPKM 10.1), duodenum (RPKM 6.6) and 25 other tissues.

Summary

This gene encodes a member of the aldehyde dehydrogenase superfamily. The family members act on aldehyde substrates and use nicotinamide adenine dinucleotide phosphate (NADP) as a cofactor. This gene is conserved in chimpanzee, dog, cow, mouse, rat, and zebrafish. The protein encoded by this gene interacts with maspardin, a protein that when truncated is responsible for Mast syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]

ALDH16A1 Products (2)

mRNA Protein Name
NM_001145396.2 NP_001138868.1 aldehyde dehydrogenase family 16 member A1 isoform 2
NM_153329.4 NP_699160.2 aldehyde dehydrogenase family 16 member A1 isoform 1
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ALDH16A1 Protein Structure

Aldedh

Aldedh: Aldehyde dehydrogenase family (48 - 486)

Aldedh

Aldedh: Aldehyde dehydrogenase family (550 - 767)

  • 0
  • 200
  • 400
  • 600
  • 802 a.a.
Protein Preferred Names Protein Names

aldehyde dehydrogenase family 16 member A1

ALDH16A1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ALDH16A1 Q8IZ83 DERA Homo sapiens Q9Y315 35271311
Intra
ALDH16A1 Q8IZ83 DERA Homo sapiens Q9Y315 32296183
Intra
ALDH16A1 Q8IZ83 DERA Homo sapiens Q9Y315 32296183
Intra
ALDH16A1 Q8IZ83 DERA Homo sapiens Q9Y315 32296183
Intra
ALDH16A1 Q8IZ83 DLGAP4 Homo sapiens Q9Y2H0-1 32296183
Intra
ALDH16A1 Q8IZ83 DLGAP4 Homo sapiens Q9Y2H0-1 32296183
Intra
ALDH16A1 Q8IZ83 DLGAP4 Homo sapiens Q9Y2H0-1 32296183
Intra
ALDH16A1 Q8IZ83 NOTCH2NLC Homo sapiens P0DPK4 32296183
Intra
ALDH16A1 Q8IZ83 NOTCH2NLC Homo sapiens P0DPK4 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

ALDH16A1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P86768 ALDH16A1 Antibody (YA6461) WB, IHC-P Human, Mouse, Rat

Related Diseases

Diseases Alias
Mast Syndrome
  • SPG21

  • Spastic Paraplegia 21, Autosomal Recessive

  • Autosomal Recessive Spastic Paraplegia Type 21

  • Autosomal Recessive Spastic Paraplegia 21

  • Hereditary Spastic Paraplegia 21

Liver Inflammatory Pseudotumor
  • Inflammatory Pseudotumor Of The Liver

  • Liver Inflammatory Myofibroblastic Tumor

Hyperuricemia, Hprt-Related
  • Hprt-Related Gout

  • Kelley-Seegmiller Syndrome

  • Hprt Deficiency, Partial

  • HRH

  • Gout, Hprt-Related

  • Hprt1 Deficiency, Partial

  • Hrpt-Related Hyperuricemia

  • Hprt Deficiency, Grade I

  • Hprt Partial Deficiency

  • Hprt-Related Hyperuricemia

  • Hprt1 Partial Deficiency

  • Hypoxanthine Guanine Phosphoribosyltransferase 1 Partial Deficiency

  • Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade I

  • Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency

  • Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

  • Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial

  • Hyperuricemia, Hrpt-Related

Gamma-Amino Butyric Acid Metabolism Disorder
  • Disorder Of Gamma-Aminobutyric Acid Metabolism

  • Disorder Of Gaba Metabolism

  • Disorders Of Gaba - [Gamma Aminobutyric Acid] Metabolism

Sjogren-Larsson Syndrome
  • Sjögren-Larsson Syndrome

  • SLS

  • Faldh Deficiency

  • Fatty Aldehyde Dehydrogenase Deficiency

  • Fatty Acid Alcohol Oxidoreductase Deficiency

  • Ichthyosis, Spastic Neurologic Disorder, And Oligophrenia

  • Sjogren Larsson Syndrome

  • Fatty Alcohol:Nad+ Oxidoreductase Deficiency

  • Sjogren-Larsson'S Syndrome

  • Fadh Deficiency

  • Fao Deficiency

  • Congenital Icthyosis Mental Retardation Spasticity Syndrome

  • Ichthyosis Oligophrenia Syndrome

  • Sjoegren-Larsson Syndrome

Succinic Semialdehyde Dehydrogenase Deficiency
  • 4-Hydroxybutyric Aciduria

  • Ssadh Deficiency

  • Gamma-Hydroxybutyric Aciduria

  • Gaba Metabolic Defect

  • SSADHD

  • Ssadh

  • Succinate-Semialdehyde Dehydrogenase Deficiency

  • Gamma-Hydroxybutyricaciduria

  • 4-Hydroxybutyricaciduria

  • Gamma-Hydroxybutyric Acidemia

  • Succinate Semialdehyde Dehydrogenase Deficiency

Hyperprolinemia
  • Proline Oxidase Deficiency

  • Hyperprolinemia Type 1

  • Proline Hydrogenase Deficiency

  • Prolinemia

  • Pyrroline Carboxylate Dehydrogenase Deficiency

  • Pyrroline-5-Carboxylate Dehydrogenase Deficiency

  • Proline Dehydrogenase Deficiency

  • Hyperprolinemia Type 2

Lesch-Nyhan Syndrome
  • Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

  • LNS

  • Hprt Deficiency

  • Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

  • Hypoxanthine Guanine Phosphoribosyltransferase Deficiency

  • X-Linked Hyperuricemia

  • Choreoathetosis Self-Mutilation Syndrome

  • Hprt1 Deficiency

  • Hprt Deficiency, Complete

  • Deficiency Of Imp Pyrophosphorylase

  • Hgprt Deficiency

  • Lesch-Nyhan Disease

  • Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency

  • Hg-Prt Deficiency

  • Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency

  • Lesch - Nyhan Syndrome

  • Hprt1 Disorders

  • Lesch Nyhan Syndrome

  • Complete Hprt Deficiency Complete

  • Lesch Nyhan Disease

  • Complete Hprt Deficiency

  • Deficiency Of Guanine Phosphoribosyltransferase

  • Deficiency Of Hypoxanthine Phosphoribosyltransferase

  • Hypoxanthine Phosphoribosyltransferase Deficiency

  • Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome

  • Juvenile Hyperuricemia Syndrome

  • Lnd

  • Primary Hyperuricemia Syndrome

  • Total Hprt Deficiency

  • Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency

  • X-Linked Primary Hyperuricemia

  • X-Linked Uric Aciduria Enzyme Defect

  • Hprt Complete Deficiency

  • Hprt Deficiency Grade Iv

  • Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency

  • Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv

  • Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency

  • Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency

  • Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency

Hereditary Spastic Paraplegia
  • Familial Spastic Paraplegia

  • Hereditary Spastic Paraparesis

  • Strumpell-Lorrain Disease

  • Familial Spastic Paraparesis

  • Hsp

  • Spg

  • Strümpell-Lorrain Disease

  • Spastic Paraplegia, Hereditary

  • French Settlement Disease

  • Strumpell-Lorrain Syndrome

  • Fsp

  • Spastic Paraplegia, Familial

  • Spastic Paraplegia Hereditary

  • Spastic Paraplegia 3, Autosomal Dominant

  • Spastic Paraparesis

  • Hereditary Spastic Paralysis

  • Familial Spastic Paralysis

  • Hereditary Spastic Ataxia

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
Macaca mulatta ALDH16A1 VGNC VGNC:108462
Rattus norvegicus ALDH16A1 RGD RGD:1566295
Bos taurus ALDH16A1 VGNC VGNC:25806
Felis catus ALDH16A1 VGNC VGNC:97344
Canis familiaris ALDH16A1 VGNC VGNC:37780
Mus musculus ALDH16A1 MGD MGI:1916998
Others ALDH16A1 NCBI