SLC13A5 - solute carrier family 13 member 5 Gene

Homo sapiens

Also known as INDY; NACT; DEE25; mIndy; EIEE25

Gene ID: 284111 | Gene type: protein coding

About SLC13A5

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:6,684,719-6,713,369 (from NCBI)

This gene has 12 transcripts (splice variants), 282 orthologues, 5 paralogues and is associated with 5 phenotypes. Biased expression in liver (RPKM 61.1) and salivary gland (RPKM 7.3).

Summary

This gene encodes a protein belonging to the solute carrier family 13 group of proteins. This family member is a sodium-dependent citrate cotransporter that may regulate metabolic processes. Mutations in this gene cause early infantile epileptic encephalopathy 25. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

SLC13A5 Products(4)

mRNA	Protein	Name
NM_001143838.3	NP_001137310.1	Na(+)/citrate cotransporter isoform b
NM_001284509.2	NP_001271438.1	Na(+)/citrate cotransporter isoform c
NM_001284510.2	NP_001271439.1	Na(+)/citrate cotransporter isoform d
NM_177550.5	NP_808218.1	Na(+)/citrate cotransporter isoform a

SLC13A5 Protein Structure

Na_sulph_symp

0
100
200
300
400
500
568 a.a.

Protein Preferred Names

Protein Names

Na(+)/citrate cotransporter

solute carrier family 13 member 5

Na+-coupled citrate transporter protein

Related Diseases

Diseases

Alias

Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta

Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta	DEE25
Epileptic Encephalopathy, Early Infantile, 25, With Amelogenesis Imperfecta	Eiee25

Developmental And Epileptic Encephalopathy 25

Developmental And Epileptic Encephalopathy, 25	Dee25
Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta	Early Infantile Epileptic Encephalopathy 25
Encephalopathy, Epileptic, Early Infantile, Type 25

Kohlschutter-Tonz Syndrome

Amelocerebrohypohidrotic Syndrome	KTZS
Epilepsy And Yellow Teeth	Kohlschutter Tonz Syndrome
Kohlschutter Syndrome	Epilepsy Dementia Amelogenesis Imperfecta
Epilepsy-Dementia-Amelogenesis Imperfecta Syndrome	Epilepsy, Dementia, And Amelogenesis Imperfecta
Kohlschutter'S Syndrome	Kohlschütter-Tönz Syndrome
Kohlschuetter-Toenz Syndrome	Presenile Dementia
Dementia

Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy	Non-Specific Eoee
Undetermined Eoee

Epilepsy, Pyridoxine-Dependent

Pyridoxine-Dependent Epilepsy	PDE
Pyridoxine Dependency With Seizures	Vitamin B6-Dependent Seizures
EPD	Aasa Dehydrogenase Deficiency
Antiquitin Deficiency	Pyridoxine Dependency
Glutamate Decarboxylase Deficiency	Pyridoxine-Dependent Seizures
Deficiency Of Glutamate Decarboxylase

Chronic Kidney Disease

Chronic Renal Disease	Chronic Kidney Failure
Ckd	Chronic Renal Failure
Kidney Failure, Chronic	Chronic Renal Failure Syndrome
Crf	Renal Failure - Chronic
Renal Failure Chronic	Chronic Kidney Diseases
Chronic Kidney Disease Stage 5	Ckd - [Chronic Kidney Disease]
Crf - [Chronic Renal Failure]	Chronic Kidney Impairment
Chronic Renal Impairment	Chronic Kidney Shutdown
Chronic Hypoxic Kidney Failure	Chronic Kidney Collapse
Chronic Renal Insufficiency	Chronic Kidney Toxaemia
Chronic Kidney Hypofunction	Chronic Renal Suppression
Chronic Renal Failure, Stage 5	Ckd - [Chronic Kidney Disease] Stage 5
End Stage Kidney Failure	End Stage Renal Failure
End Stage Kidney Disease	End Stage Renal Disease
End Stage Chronic Renal Failure	Esrf - [End Stage Renal Failure]
Esrd - [End Stage Renal Diseases]	Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²

Encephalopathy

Brain Diseases	Encephalopathies
Toxic Encephalopathy	Toxic Brain Fever
Toxic Brain Inflammation	Toxic Brain Stem Inflammation
Toxic Cerebral Fever	Toxic Cerebrospinal Fever
Toxic Cerebrospinal Inflammation	Encephalopathy Nec
Encephalopathy Nos	Encephalopathy Disease
Encephalopathy Syndrome

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly

SRTD13

Amelogenesis Imperfecta

Ai	Congenital Enamel Hypoplasia
Al - [Amelogenesis Imperfecta]

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

Deafness, Dystonia, And Cerebral Hypomyelination

Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	DDCH
Cadds	Severe Motor And Intellectual Disabilities-Sensorineural Hearing Loss-Dystonia Syndrome
Contiguous Abcd1 Dxs1357e Deletion Syndrome	Zellweger-Like Contiguous Gene Deletion Syndrome
Contiguous Abcd1/Dxs1375e Deletion Syndrome	Deafness, Dystonia, Cerebral Hypomyelination
Contiguous Abcd1-Dxs1375e Deletion Syndrome

Ovarian Embryonal Carcinoma

Embryonal Carcinoma Of Ovary

Embryonal Carcinoma Of The Ovary

Alacrima, Achalasia, And Mental Retardation Syndrome

AAMR	Alacrima, Achalasia, And Intellectual Disability Syndrome
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Intellectual Disability

Machado-Joseph Disease

SCA3	MJD
Spinocerebellar Ataxia 3	Azorean Disease
Spinocerebellar Ataxia Type 3	Spinocerebellar Atrophy
Azorean Neurologic Disease	Spinopontine Atrophy
Nigrospinodentatal Degeneration	Spinocerebellar Atrophy Iii
Spinocerebellar Atrophy Type 3	Azorean Ataxia
Azorean Disease Of The Nervous System	Machado Disease
Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia	Disease, Machado-Joseph
Ataxia, Spinocerebellar

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia	Adca
Pierre Marie Cerebellar Ataxia	Ataxia, Spinocerebellar
Sca	Autosomal Dominant Spinocerebellar Ataxia
Spinocerebellar Ataxias

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Cerebellar Disease

Cerebellar Diseases	Cerebellar Dysfunction
Cerebellar Abnormality	Cerebellar Disorders

Tooth Agenesis

Oligodontia	Hypodontia
Selective Tooth Agenesis	Tooth Agenesis, Selective
Familial Tooth Agenesis	Anodontia
Congenital Absence Of One Tooth

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-120669	PF-06761281	Inhibitor	99.32%	Unkown
HY-125990	SLC13A5-IN-1	Inhibitor	99.79%	Unkown
HY-124738	BI 01383298	Inhibitor	99.30%	Unkown
HY-120103	PF-06649298	Inhibitor	99.51%	Unkown
HY-158160	LBA-3	Inhibitor	/	Unkown
HY-RS13009	SLC13A5 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SLC13A5	VGNC	VGNC:65199
Rattus norvegicus	SLC13A5	RGD	RGD:631374
Canis familiaris	SLC13A5	VGNC	VGNC:46231
Macaca mulatta	SLC13A5	VGNC	VGNC:77556
Bos taurus	SLC13A5	VGNC	VGNC:34677
Mus musculus	SLC13A5	MGD	MGI:3037150

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