MFSD5 major facilitator superfamily domain containing 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MFSD5provided by HGNC
Official Full Name: major facilitator superfamily domain containing 5provided by HGNC
Primary source: HGNC:HGNC:28156
See related: Ensembl:ENSG00000182544 MIM:620345; AllianceGenome:HGNC:28156
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: hsMOT2; SLC61A1
Summary: Enables molybdate ion transmembrane transporter activity. Involved in molybdate ion transport. Located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in skin (RPKM 12.9), esophagus (RPKM 11.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.13

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (53251197..53254406)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (53216787..53219996)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (53645370..53648190)

Chromosome 12 - NC_000012.12 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: 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?

Major Facilitator Superfamily Domain Containing 5 Inhibition Reduces Lipoprotein(a) Uptake and Calcification in Valvular Heart Disease.
Title: Major Facilitator Superfamily Domain Containing 5 Inhibition Reduces Lipoprotein(a) Uptake and Calcification in Valvular Heart Disease.

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molybdate ion transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in molybdate ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in monoatomic ion transport	IEA Inferred from Electronic Annotation more info

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

General protein information

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Preferred Names: molybdate-anion transporter

Names: major facilitator superfamily domain-containing protein 5; molybdate transporter 2 homolog

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_001170790.2 → NP_001164261.1 molybdate-anion transporter isoform 1

See identical proteins and their annotated locations for NP_001164261.1

Status: VALIDATED

Description

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

Source sequence(s)

AK097576, BC007703, BC067795, DA565785

Consensus CDS

CCDS53796.1

UniProtKB/Swiss-Prot

Q6N075

Related

ENSP00000442688.1, ENST00000534842.1

Conserved Domains (2) summary

pfam07690
Location:155 → 488

MFS_1; Major Facilitator Superfamily

cl21472
Location:113 → 435

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 ...
NM_032889.5 → NP_116278.3 molybdate-anion transporter isoform 2

See identical proteins and their annotated locations for NP_116278.3

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1.

Source sequence(s)

AK074684, BC067795, DA428788, DA695979

Consensus CDS

CCDS8851.1

UniProtKB/Swiss-Prot

G3V1N7, Q6N075, Q6NW04, Q8N7W8, Q8NCK0, Q96IA5

Related

ENSP00000332624.5, ENST00000329548.5

Conserved Domains (1) summary

cl21472
Location:6 → 328

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 ...

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_000012.12 Reference GRCh38.p14 Primary Assembly

Range

53251197..53254406

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005269197.2 → XP_005269254.1 molybdate-anion transporter isoform X1

See identical proteins and their annotated locations for XP_005269254.1

UniProtKB/Swiss-Prot

Q6N075

Conserved Domains (2) summary

pfam07690
Location:155 → 488

MFS_1; Major Facilitator Superfamily

cl21472
Location:113 → 435

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 ...
XM_005269198.5 → XP_005269255.1 molybdate-anion transporter isoform X2

See identical proteins and their annotated locations for XP_005269255.1

UniProtKB/Swiss-Prot

G3V1N7, Q6N075, Q6NW04, Q8N7W8, Q8NCK0, Q96IA5

Conserved Domains (1) summary

cl21472
Location:6 → 328

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 ...