2. Gene
  3. SLC13A5 - solute carrier family 13 member 5 Gene

SLC13A5 - solute carrier family 13 member 5 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference 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 Reference 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

Na_sulph_symp: Sodium:sulfate symporter transmembrane region (13 - 552)

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  • 568 a.a.
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 Reference
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

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-120103 PF-06649298 Inhibitor 99.51% Unkown
HY-124738 BI 01383298 Inhibitor 99.30% Unkown
HY-158160 LBA-3 Inhibitor / Unkown
HY-RS13009 SLC13A5 Human Pre-designed siRNA Set A Pre-designed Sets / 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