SLC35D3 solute carrier family 35 member D3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC35D3provided by HGNC
Official Full Name: solute carrier family 35 member D3provided by HGNC
Primary source: HGNC:HGNC:15621
See related: Ensembl:ENSG00000182747 MIM:612519; AllianceGenome:HGNC:15621
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FRCL1
Summary: Predicted to enable antiporter activity and pyrimidine nucleotide-sugar transmembrane transporter activity. Predicted to be involved in carbohydrate transport and pyrimidine nucleotide-sugar transmembrane transport. Predicted to act upstream of or within energy homeostasis and positive regulation of protein exit from endoplasmic reticulum. Predicted to be located in early endosome and endoplasmic reticulum. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 6q23.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (136922301..136925660)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (138110480..138113839)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (137243439..137246798)

Chromosome 6 - NC_000006.12 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Our results suggest that the SLC35D3 gene, close to the D6S1009 locus, is a candidate gene for MetS, which is involved in metabolic control in the central nervous system by regulating dopamine signaling.
Title: Mutation of SLC35D3 causes metabolic syndrome by impairing dopamine signaling in striatal D1 neurons.

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SLC35D3_3740 (e-PCR)
- UniSTS:462928

RH102353 (e-PCR)
- UniSTS:96687

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables UDP-glucose transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables antiporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein-macromolecule adaptor activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in UDP-glucose transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in energy homeostasis	IEA Inferred from Electronic Annotation more info
involved_in platelet dense granule organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of autophagy	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein exit from endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
involved_in protein exit from endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in early endosome membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
is_active_in synaptic vesicle membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: solute carrier family 35 member D3

Names: frc, fringe-like 1; fringe connection-like protein 1

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_001008783.3 → NP_001008783.1 solute carrier family 35 member D3

See identical proteins and their annotated locations for NP_001008783.1

Status: VALIDATED

Source sequence(s)

AK295424, AK316095, BC067217, BE669463

Consensus CDS

CCDS34544.1

UniProtKB/Swiss-Prot

B4DI58, Q5M8T2, Q5QNZ6, Q6NX71

UniProtKB/TrEMBL

B7Z9Y0

Related

ENSP00000333591.4, ENST00000331858.5

Conserved Domains (1) summary

COG5070
Location:30 → 308

VRG4; Nucleotide-sugar transporter [Carbohydrate transport and metabolism / Posttranslational modification, protein turnover, chaperones / Intracellular trafficking and secretion]