MFSD4A major facilitator superfamily domain containing 4A [Homo sapiens (human)] - Gene

Summary

Official Symbol: MFSD4Aprovided by HGNC
Official Full Name: major facilitator superfamily domain containing 4Aprovided by HGNC
Primary source: HGNC:HGNC:25433
See related: Ensembl:ENSG00000174514 MIM:620299; AllianceGenome:HGNC:25433
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: MFSD4; SLC60A1; UNQ3064
Summary: Predicted to enable transmembrane transporter activity. Predicted to be involved in D-glucose transmembrane transport. Predicted to be located in membrane. Biomarker of cholangiocarcinoma. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in kidney (RPKM 40.9), stomach (RPKM 37.2) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q32.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (205569014..205602918)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (204833559..204867476)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (205538142..205572046)

Chromosome 1 - NC_000001.11 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: 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?

Low MFSD4 expression is associated with hepatic metastasis in patients gastric cancer.
Title: Metastatic pathway-specific transcriptome analysis identifies MFSD4 as a putative tumor suppressor and biomarker for hepatic metastasis in patients with gastric cancer.
propose MFSD4A and MFSD9 to be novel transporters, belonging to disparate SLC families. Both proteins were located to neurons in mouse brain, and their mRNA expression levels were affected by the diet
Title: Structural prediction of two novel human atypical SLC transporters, MFSD4A and MFSD9, and their neuroanatomical distribution in mice.

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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

SHGC-30130 (e-PCR)
- UniSTS:73515

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-76230 (e-PCR)
- UniSTS:14405

A002U12 (e-PCR)
- UniSTS:17757

SHGC-76242 (e-PCR)
- UniSTS:25181

D1S1425 (e-PCR)
- UniSTS:149621

RH16681 (e-PCR)
- UniSTS:126

G32569 (e-PCR)
- UniSTS:117153

D1S1856E (e-PCR)
- UniSTS:58294

SHGC-76231 (e-PCR)
- UniSTS:76994

D1S2427 (e-PCR)
- UniSTS:69330

SHGC-76239 (e-PCR)
- UniSTS:4337

A009J04 (e-PCR)
- UniSTS:39159

Clone Names

FLJ25004, FLJ34577, FLJ45392, DKFZp564C1416, DKFZp761N1114

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables D-glucose transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info

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

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: major facilitator superfamily domain-containing protein 4A

Names: major facilitator superfamily domain containing 4; major facilitator superfamily domain-containing protein 4

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_181644.5 → NP_857595.3 major facilitator superfamily domain-containing protein 4A

See identical proteins and their annotated locations for NP_857595.3

Status: VALIDATED

Source sequence(s)

AK090831, AK091896, BC016377, BC036549, DC317463

Consensus CDS

CCDS1455.1

UniProtKB/Swiss-Prot

B7Z8X3, Q6UY25, Q8N468, Q8NAY0, Q8TCP4

UniProtKB/TrEMBL

F5H391

Related

ENSP00000356115.4, ENST00000367147.9

Conserved Domains (1) summary

cd06174
Location:18 → 160

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...