SLC35B1 - solute carrier family 35 member B1 Gene

Homo sapiens

Also known as AXER; UGTREL1

Gene ID: 10237 | Gene type: protein coding

About SLC35B1

Cytogenetic location: 17q21.33 Genomic coordinates (GRCh38): 17:49,700,943-49,708,197 (from NCBI)

This gene has 20 transcripts (splice variants), 203 orthologues and 3 paralogues. Ubiquitous expression in thyroid (RPKM 24.3), duodenum (RPKM 18.7) and 25 other tissues.

Summary

This gene encodes a nucleotide sugar transporter which is a member of solute carrier family 35. The transporters in this family are highly conserved hydrophobic proteins with multiple transmembrane domains. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

SLC35B1 Products(2)

mRNA	Protein	Name
NM_001278784.2	NP_001265713.1	solute carrier family 35 member B1 isoform 2
NM_005827.4	NP_005818.3	solute carrier family 35 member B1 isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATP:ADP antiporter activity	IDA IDA: Inferred from direct assay	30154480	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	30154480	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

SLC35B1 Protein Structure

UAA

0
100
200
300
322 a.a.

Protein Preferred Names

Protein Names

solute carrier family 35 member B1

ATP/ADP exchanger ER

Related Diseases

Diseases

Alias

Barre-Lieou Syndrome

Cervicocranial Syndrome

Posterior Cervical Sympathetic Syndrome

Dicarboxylic Aminoaciduria

Glutamate-Aspartate Transport Defect	Dicarboxylicaminoaciduria
DCBXA	Renal Aminoacidurias

Bardet-Biedl Syndrome 10

BBS10	Bardet-Biedl Syndrome
Bbs	Bardet-Biedl Syndrome, Type 10

Hydranencephaly

Hydroanencephaly

Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

Chromosome 1q21.1 Deletion Syndrome	1q21.1 Microdeletion Syndrome
Monosomy 1q21.1	1q21.1 Microdeletion
Chromosome 1q21.1 Microdeletion Syndrome	1q21.1 Contiguous Gene Deletion
1q21.1 Deletion	Del(1)(Q21)
1q21.1 Deletion Syndrome

Retinitis Pigmentosa 12

RP12	Retinitis Pigmentosa With Or Without Paraarteriolar Preservation Of Retinal Pigment Epithelium
Rp With Or Without Preserved Paraarteriole Retinal Pigment Epithelium	Rp With Or Without Pprpe
Retinitis Pigmentosa-12

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-RS13198	SLC35B1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SLC35B1	MGD	MGI:1343133
Rattus norvegicus	SLC35B1	RGD	RGD:727783
Macaca mulatta	SLC35B1	VGNC	VGNC:77533
Canis familiaris	SLC35B1	VGNC	VGNC:46364
Bos taurus	SLC35B1	VGNC	VGNC:34823
Felis catus	SLC35B1	VGNC	VGNC:65324

Name
Email *

	Sorry, but the email address you supplied was invalid.