ENSG00000174358


Homo sapiens

Features
Gene ID: ENSG00000174358
  
Biological name :SLC6A19
  
Synonyms : Q695T7 / SLC6A19 / solute carrier family 6 member 19
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: 1
Band: p15.33
Gene start: 1201595
Gene end: 1225117
  
Corresponding Affymetrix probe sets: 231021_at (Human Genome U133 Plus 2.0 Array)   231480_at (Human Genome U133 Plus 2.0 Array)   238177_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000305302
Ensembl peptide - ENSP00000425701
NCBI entrez gene - 340024     See in Manteia.
OMIM - 608893
RefSeq - NM_001003841
RefSeq Peptide - NP_001003841
swissprot - E9PD72
swissprot - Q695T7
Ensembl - ENSG00000174358
  
Related genetic diseases (OMIM): 138500 - Hyperglycinuria, 138500
  234500 - Hartnup disorder, 234500
  242600 - Iminoglycinuria, digenic, 242600
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 slc6a19a.1ENSDARG00000018621Danio rerio
 slc6a19a.2ENSDARG00000091560Danio rerio
 slc6a19bENSDARG00000056719Danio rerio
 SLC6A19ENSGALG00000019527Gallus gallus
 Q9D687ENSMUSG00000021565Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q96N87 / SLC6A18 / solute carrier family 6 member 18ENSG0000016436350
Q9H2J7 / SLC6A15 / solute carrier family 6 member 15ENSG0000007204144
Q9NP91 / SLC6A20 / solute carrier family 6 member 20ENSG0000016381743
Q9H1V8 / SLC6A17 / solute carrier family 6 member 17ENSG0000019710641
Q9GZN6 / SLC6A16 / solute carrier family 6 member 16ENSG0000006312732


Protein motifs (from Interpro)
Interpro ID Name
 IPR000175  Sodium:neurotransmitter symporter
 IPR002438  Sodium:neurotransmitter symporter, orphan
 IPR037272  Sodium:neurotransmitter symporter superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003333 amino acid transmembrane transport IEA
 biological_processGO:0006836 neurotransmitter transport IEA
 biological_processGO:0006865 amino acid transport TAS
 biological_processGO:0007584 response to nutrient IEA
 biological_processGO:0015804 neutral amino acid transport IEA
 biological_processGO:0055085 transmembrane transport IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031526 brush border membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005328 neurotransmitter:sodium symporter activity IEA
 molecular_functionGO:0015171 amino acid transmembrane transporter activity TAS
 molecular_functionGO:0015175 neutral amino acid transmembrane transporter activity IEA
 molecular_functionGO:0015293 symporter activity IEA


Pathways (from Reactome)
Pathway description
Amino acid transport across the plasma membrane
Na+/Cl- dependent neurotransmitter transporters
Defective SLC6A19 causes Hartnup disorder (HND)
Defective SLC6A19 causes Hartnup disorder (HND)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show

 HP:0000206 Glossitis "Inflammation of the tongue." [HPO:sdoelken]
Show

 HP:0000230 Gingivitis 
Show

 HP:0000478 Abnormality of the eyes "Any abnormality of the `eyes` (FMA:54448), including location, spacing, and intraocular abnormalities." [HPO:curators]
Show

 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
Show

 HP:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
Show

 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
Show

 HP:0000709 Psychosis "A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs." [HPO:curators]
Show

 HP:0000712 Emotional lability 
Show

 HP:0000738 Hallucinations 
Show

 HP:0000739 Anxiety 
Show

 HP:0000988 Skin rash 
Show

 HP:0000992 Photosensitivity "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin." [HPO:curators]
Show

 HP:0001053 Hypopigmented skin patches 
Show

 HP:0001249 Mental retardation 
Show

 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
Show

 HP:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
Show

 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
Show

 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
Show

 HP:0001276 Hypertonia 
Show

 HP:0001347 Hyperreflexia "The presence of overactive or overresponsive reflexes." [HPO:curators]
Show

 HP:0002024 Malabsorption 
Show

 HP:0002076 Migraine 
Show

 HP:0002131 Ataxia, episodic 
Show

 HP:0002353 EEG abnormalities "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain s spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators]
Show

 HP:0002383 Encephalitis 
Show

 HP:0003080 Hydroxyprolinuria 
Show

 HP:0003108 Hyperglycinuria 
Show

 HP:0003137 Prolinuria 
Show

 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
Show

 HP:0007400 Irregular hyperpigmentation 
Show

 HP:0008066 Abnormal blistering of the skin 
Show

 HP:0008353 Neutral hyperaminoaciduria 
Show

 HP:0008672 Calcium oxalate nephrolithiasis 
Show

 HP:0012086 Abnormal urinary color "An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color." [HPO:probinson]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   


© Olivier Tassy / Olivier Pourquie 2007-2025
contact: otassy@igbmc.fr