SLC35B1 solute carrier family 35 member B1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC35B1provided by HGNC
Official Full Name: solute carrier family 35 member B1provided by HGNC
Primary source: HGNC:HGNC:20798
See related: Ensembl:ENSG00000121073 MIM:610790; AllianceGenome:HGNC:20798
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AXER; UGTREL1
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]
Expression: Ubiquitous expression in thyroid (RPKM 24.3), duodenum (RPKM 18.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.33

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (49700943..49708197, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (50564044..50571286, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (47778305..47785326, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The broad range di- and tri-nucleotide exchanger SLC35B1 displays asymmetrical affinities for ATP transport across the ER membrane.
Title: The broad range di- and tri-nucleotide exchanger SLC35B1 displays asymmetrical affinities for ATP transport across the ER membrane.
SLC35B1 significantly contributes to the uptake of UDPGA into the endoplasmic reticulum for glucuronidation catalyzed by UDP-glucuronosyltransferases.
Title: SLC35B1 significantly contributes to the uptake of UDPGA into the endoplasmic reticulum for glucuronidation catalyzed by UDP-glucuronosyltransferases.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of solute carrier family 35, member B1 (SLC35B1) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_7913-7914:1010423980:1 (e-PCR)
- UniSTS:269853

A007B33 (e-PCR)
- UniSTS:11507

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP:ADP antiporter activity	IDA Inferred from Direct Assay more info	PubMed
enables UDP-galactose transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables UDP-glucose transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ADP transport	IEA Inferred from Electronic Annotation more info
involved_in ATP transport	IEA Inferred from Electronic Annotation more info
involved_in UDP-galactose transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in UDP-glucose transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: solute carrier family 35 member B1

Names: ATP/ADP exchanger ER; ATP/ADP exchanger in the ER membrane; UDP-galactose transporter related; UDP-galactose transporter-related protein 1; endoplasmic reticulum ATP/ADP translocase

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001278784.2 → NP_001265713.1 solute carrier family 35 member B1 isoform 2

See identical proteins and their annotated locations for NP_001265713.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region and initiates translation at downstream start codon compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AC015795, AI252816, AU309730, CX164572

UniProtKB/TrEMBL

D6R981

Conserved Domains (1) summary

pfam08449
Location:18 → 242

UAA; UAA transporter family
NM_005827.4 → NP_005818.3 solute carrier family 35 member B1 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).

Source sequence(s)

AC015795, AI252816, AU099388, BM476321, D87989

Consensus CDS

CCDS11552.3

UniProtKB/Swiss-Prot

B4DEC4, J3KQV4, P78383, Q96EW7

Related

ENSP00000240333.8, ENST00000240333.12

Conserved Domains (1) summary

pfam08449
Location:16 → 309

UAA; UAA transporter family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

49700943..49708197 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011524180.3 → XP_011522482.1 solute carrier family 35 member B1 isoform X3

See identical proteins and their annotated locations for XP_011522482.1

UniProtKB/TrEMBL

D6R981

Related

ENSP00000423323.1, ENST00000503334.5

Conserved Domains (1) summary

pfam08449
Location:18 → 242

UAA; UAA transporter family
XM_011524179.3 → XP_011522481.1 solute carrier family 35 member B1 isoform X2

Conserved Domains (2) summary

pfam08449
Location:53 → 303

UAA; UAA transporter family

cl23754
Location:199 → 303

EamA; EamA-like transporter family
XM_006721632.4 → XP_006721695.1 solute carrier family 35 member B1 isoform X1

Conserved Domains (1) summary

pfam08449
Location:53 → 380

UAA; UAA transporter family

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

50564044..50571286 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054314671.1 → XP_054170646.1 solute carrier family 35 member B1 isoform X3

UniProtKB/TrEMBL

D6R981
XM_054314670.1 → XP_054170645.1 solute carrier family 35 member B1 isoform X2
XM_054314669.1 → XP_054170644.1 solute carrier family 35 member B1 isoform X1