SLC13A5 - solute carrier family 13 member 5 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 284111

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables citrate transmembrane transporter activity	IDA IDA: Inferred from direct assay	21264516	GOA
enables citrate transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	30054523	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	33597751	GOA
enables organic acid:sodium symporter activity	IDA IDA: Inferred from direct assay	12445824	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in alpha-ketoglutarate transport	IDA IDA: Inferred from direct assay	26324167	GOA
involved in cellular response to lithium ion	IDA IDA: Inferred from direct assay	26324167	GOA
involved in citrate transport	IDA IDA: Inferred from direct assay	12445824	GOA
involved in citrate transport	IMP IMP: Inferred from mutant phenotype	30054523	GOA
involved in fumarate transport	IDA IDA: Inferred from direct assay	26324167	GOA
involved in oxaloacetate transport	IDA IDA: Inferred from direct assay	26324167	GOA
involved in succinate transport	IDA IDA: Inferred from direct assay	26324167	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	26384929	GOA
located in plasma membrane	IMP IMP: Inferred from mutant phenotype	30054523	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

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

Protein Preferred Names

Protein Names

Na(+)/citrate cotransporter

solute carrier family 13 member 5

Na+-coupled citrate transporter protein

SLC13A5 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	SLC13A5	Q86YT5	KRTAP10-8	Homo sapiens	P60410	Y2H Array	32296183
Intra	SLC13A5	Q86YT5	KRTAP10-8	Homo sapiens	P60410	Y2H Prey Pooling	32296183
Intra	SLC13A5	Q86YT5	ADAMTSL4	Homo sapiens	Q6UY14-3	Y2H Array	32296183
Intra	SLC13A5	Q86YT5	ADAMTSL4	Homo sapiens	Q6UY14-3	Y2H Prey Pooling	32296183
Intra	SLC13A5	Q86YT5	KRTAP12-2	Homo sapiens	P59991	Y2H Array	32296183
Intra	SLC13A5	Q86YT5	KRTAP12-2	Homo sapiens	P59991	Y2H Prey Pooling	32296183
Intra	SLC13A5	Q86YT5	KRTAP9-3	Homo sapiens	Q9BYQ3	Y2H Prey Pooling	32296183
Intra	SLC13A5	Q86YT5	KRTAP9-3	Homo sapiens	Q9BYQ3	Validated Y2H	32296183
Intra	SLC13A5	Q86YT5	KRTAP9-3	Homo sapiens	Q9BYQ3	Y2H Array	32296183
Intra	SLC13A5	Q86YT5	KRTAP9-2	Homo sapiens	Q9BYQ4	Validated Y2H	32296183
Intra	SLC13A5	Q86YT5	KRTAP9-2	Homo sapiens	Q9BYQ4	Y2H Prey Pooling	32296183
Intra	SLC13A5	Q86YT5	KRTAP9-2	Homo sapiens	Q9BYQ4	Y2H Array	32296183
Intra	SLC13A5	Q86YT5	KRTAP11-1	Homo sapiens	Q8IUC1	Y2H Prey Pooling	32296183
Intra	SLC13A5	Q86YT5	KRTAP11-1	Homo sapiens	Q8IUC1	Validated Y2H	32296183
Intra	SLC13A5	Q86YT5	KRTAP11-1	Homo sapiens	Q8IUC1	Y2H Array	32296183
Intra	SLC13A5	Q86YT5	KLHL20	Homo sapiens	Q9BS75	Y2H Prey Pooling	32296183
Intra	SLC13A5	Q86YT5	KLHL20	Homo sapiens	Q9BS75	Validated Y2H	32296183
Intra	SLC13A5	Q86YT5	KLHL20	Homo sapiens	Q9BS75	Y2H Array	32296183
Intra	SLC13A5	Q86YT5	KRTAP1-3	Homo sapiens	Q8IUG1	Y2H Array	32296183
Intra	SLC13A5	Q86YT5	KRTAP1-3	Homo sapiens	Q8IUG1	Y2H Prey Pooling	32296183
Intra	SLC13A5	Q86YT5	KRTAP12-3	Homo sapiens	P60328	Y2H Array	32296183
Intra	SLC13A5	Q86YT5	KRTAP12-3	Homo sapiens	P60328	Y2H Prey Pooling	32296183
Intra	SLC13A5	Q86YT5	KRTAP5-2	Homo sapiens	Q701N4	Y2H Prey Pooling	32296183
Intra	SLC13A5	Q86YT5	KRTAP5-2	Homo sapiens	Q701N4	Y2H Array	32296183
Intra	SLC13A5	Q86YT5	KRTAP9-8	Homo sapiens	Q9BYQ0	Y2H Prey Pooling	32296183
Intra	SLC13A5	Q86YT5	KRTAP9-8	Homo sapiens	Q9BYQ0	Validated Y2H	32296183
Intra	SLC13A5	Q86YT5	KRTAP9-8	Homo sapiens	Q9BYQ0	Y2H Array	32296183
Intra	SLC13A5	Q86YT5	GJA8	Homo sapiens	P48165	Y2H Array	32296183
Intra	SLC13A5	Q86YT5	GJA8	Homo sapiens	P48165	Y2H Prey Pooling	32296183
Intra	SLC13A5	Q86YT5	EEF1A2	Homo sapiens	Q05639	Anti Tag CoIP	33961781
Intra	SLC13A5	Q86YT5	EEF1A2	Homo sapiens	Q05639	Anti Tag CoIP	28514442
Intra	SLC13A5	Q86YT5	CYSRT1	Homo sapiens	A8MQ03	Y2H Prey Pooling	32296183
Intra	SLC13A5	Q86YT5	CYSRT1	Homo sapiens	A8MQ03	Y2H Array	32296183
Intra	SLC13A5	Q86YT5	KRTAP5-9	Homo sapiens	P26371	Y2H Prey Pooling	32296183
Intra	SLC13A5	Q86YT5	KRTAP5-9	Homo sapiens	P26371	Y2H Array	32296183
Intra	SLC13A5	Q86YT5	GOLM1	Homo sapiens	Q8NBJ4	Y2H Prey Pooling	32296183
Intra	SLC13A5	Q86YT5	GOLM1	Homo sapiens	Q8NBJ4	Validated Y2H	32296183
Intra	SLC13A5	Q86YT5	GOLM1	Homo sapiens	Q8NBJ4	Y2H Array	32296183
Intra	SLC13A5	Q86YT5	MDFI	Homo sapiens	Q99750	Y2H Array	32296183
Intra	SLC13A5	Q86YT5	MDFI	Homo sapiens	Q99750	Y2H Prey Pooling	32296183
Intra	SLC13A5	Q86YT5	MDFI	Homo sapiens	Q99750	Validated Y2H	32296183
Intra	SLC13A5	Q86YT5	KRTAP3-2	Homo sapiens	Q9BYR7	Y2H Prey Pooling	32296183
Intra	SLC13A5	Q86YT5	KRTAP3-2	Homo sapiens	Q9BYR7	Validated Y2H	32296183
Intra	SLC13A5	Q86YT5	KRTAP3-2	Homo sapiens	Q9BYR7	Y2H Array	32296183
Intra	SLC13A5	Q86YT5	CD79A	Homo sapiens	P11912	Y2H Array	32296183
Intra	SLC13A5	Q86YT5	CD79A	Homo sapiens	P11912	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

SLC13A5 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P810020	SLC13A5 Antibody (YA9364)	WB, ICC/IF, IF-Tissue, IHC-P, IP, ELISA	human

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

Pre-clinical Phase

Bioactive Molecules (8)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-125990	SLC13A5-IN-1	Inhibitor	98.62%	Unkown
HY-120669	PF-06761281	Inhibitor	99.52%	Unkown
HY-120103	PF-06649298	Inhibitor	98.32%	Unkown
HY-124738	BI 01383298	Inhibitor	99.44%	Unkown
HY-RS13009	SLC13A5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-158160	LBA-3	Inhibitor	/	Unkown
HY-RS18581	Slc13a5 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25066	Slc13a5 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	SLC13A5	NCBI