SLC35F1 solute carrier family 35 member F1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC35F1provided by HGNC
Official Full Name: solute carrier family 35 member F1provided by HGNC
Primary source: HGNC:HGNC:21483
See related: Ensembl:ENSG00000196376 MIM:620349; AllianceGenome:HGNC:21483
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: C6orf169; dJ230I3.1
Summary: Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Located in synaptic vesicle membrane. [provided by Alliance of Genome Resources, Nov 2024]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
Expression: Biased expression in brain (RPKM 17.3), heart (RPKM 1.2) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 6q22.2-q22.31

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (117907264..118317671)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (119091523..119502777)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (118228427..118638834)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Residence of the Nucleotide Sugar Transporter Family Members SLC35F1 and SLC35F6 in the Endosomal/Lysosomal Pathway.
Title: Residence of the Nucleotide Sugar Transporter Family Members SLC35F1 and SLC35F6 in the Endosomal/Lysosomal Pathway.
SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome.
Title: SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome.
Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide association analysis identifies multiple loci related to resting heart rate.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide pleiotropy of osteoporosis-related phenotypes: the Framingham Study.
Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.

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

EBI GWAS Catalog

Description
Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at ten loci influence QT interval duration in the QTGEN Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies multiple loci related to resting heart rate. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D6S1954 (e-PCR)
- UniSTS:77857

RH121802 (e-PCR)
- UniSTS:134951

SHGC-142186 (e-PCR)
- UniSTS:171307

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

D6S1997 (e-PCR)
- UniSTS:2631

STS-N66295 (e-PCR)
- UniSTS:14936

SHGC-85738 (e-PCR)
- UniSTS:103768

D1S1423 (e-PCR)
- UniSTS:149619

SHGC-79599 (e-PCR)
- UniSTS:104587

D6S1075 (e-PCR)
- UniSTS:3526

A008R47 (e-PCR)
- UniSTS:43468

SHGC-154554 (e-PCR)
- UniSTS:178133

AL020969 (e-PCR)
- UniSTS:8427

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_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 F1

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.