SLC13A1 - solute carrier family 13 member 1 Gene

Homo sapiens

Also known as NAS1; NaSi-1

Gene ID: 6561 | Gene type: protein coding

About SLC13A1

Cytogenetic location: 7q31.32 Genomic coordinates (GRCh38): 7:123,113,531-123,199,971 (from NCBI)

This gene has 4 transcripts (splice variants), 204 orthologues and 5 paralogues. Biased expression in kidney (RPKM 26.2), small intestine (RPKM 5.7) and 1 other tissue.

Summary

The protein encoded by this gene is an apical membrane Na(+)-sulfate cotransporter involved in sulfate homeostasis in the kidney. Defects in this gene lead to many pathophysiologic problems. [provided by RefSeq, May 2016]

SLC13A1 Products(2)

mRNA	Protein	Name
NM_001324400.1	NP_001311329.1	solute carrier family 13 member 1 isoform 2
NM_022444.4	NP_071889.2	solute carrier family 13 member 1 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables sodium:sulfate symporter activity	IDA IDA: Inferred from direct assay	11161786	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

SLC13A1 Protein Structure

Na_sulph_symp

0
100
200
300
400
500
595 a.a.

Protein Preferred Names

Protein Names

solute carrier family 13 member 1

Na(+)/sulfate cotransporter

Related Diseases

Diseases

Alias

Achondrogenesis, Type Ib

ACG1B	Achondrogenesis Type Ib
Achondrogenesis Type 1b	Achondrogenesis Ib
Achondrogenesis Fraccaro Type	Achondrogenesis, Fraccaro Type
Achondrogenesis, Parenti-Fraccaro Type	Achondrogenesis 1b
Acg-Ib	Fraccaro Achondrogenesis

Nephrotic Syndrome, Type 14

Sphingosine Phosphate Lyase Insufficiency Syndrome	Nephrotic Syndrome 14
NPHS14	Splis
Nephrotic Syndrome Type 14	Sgpl1 Deficiency
Steroid-Resistant Nephrotic Syndrome Type 14	Familial Steroid-Resistant Nephrotic Syndrome With Adrenal Insufficiency
Primary Adrenal Insufficiency-Steroid-Resistant Nephrotic Syndrome Due To Sgpl1 Deficiency

Atelosteogenesis

Atelosteogenesis, Type 1

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

Brown-Vialetto-Van Laere Syndrome 2

BVVLS2	Rfvt3-Related Riboflavin Transporter Deficiency
Rtd3	Riboflavin Transporter Deficiency 3
Brown-Vialetto-Van Laere Syndrome, Type 2

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13005	SLC13A1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SLC13A1	VGNC	VGNC:46227
Bos taurus	SLC13A1	VGNC	VGNC:34673
Felis catus	SLC13A1	VGNC	VGNC:65196
Mus musculus	SLC13A1	MGD	MGI:1859937
Rattus norvegicus	SLC13A1	RGD	RGD:61919
Macaca mulatta	SLC13A1	VGNC	VGNC:77391

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