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MFSD12 major facilitator superfamily domain containing 12 [ Homo sapiens (human) ]

Gene ID: 126321, updated on 23-Nov-2021

Summary

Official Symbol
MFSD12provided by HGNC
Official Full Name
major facilitator superfamily domain containing 12provided by HGNC
Primary source
HGNC:HGNC:28299
See related
Ensembl:ENSG00000161091 MIM:617745
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
PP3501; C19orf28
Expression
Ubiquitous expression in kidney (RPKM 23.3), skin (RPKM 11.8) and 25 other tissues See more
Orthologs
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Genomic context

See MFSD12 in Genome Data Viewer
Location:
19p13.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (3538270..3557592, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (3544197..3557584, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372246 Neighboring gene uncharacterized LOC122405565 Neighboring gene uncharacterized LOC105372245 Neighboring gene deoxyhypusine hydroxylase Neighboring gene fizzy and cell division cycle 20 related 1 Neighboring gene chromosome 19 open reading frame 71 Neighboring gene Sharpr-MPRA regulatory region 8051 Neighboring gene high mobility group 20B

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC20700

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cysteine transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables symporter activity IEA
Inferred from Electronic Annotation
more info
 
enables transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in late endosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in lysosomal membrane HDA PubMed 
located_in lysosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in melanosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in melanosome membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
major facilitator superfamily domain-containing protein 12

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)

  1. NM_001287529.2NP_001274458.1  major facilitator superfamily domain-containing protein 12 isoform d

    See identical proteins and their annotated locations for NP_001274458.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice junction at the 3' end of the first exon compared to variant 3. The resulting isoform (d) has the same N- and C-termini but is shorter compared to isoform c.
    Source sequence(s)
    AC005786, BC036706, BC068439, HY061678
    Consensus CDS
    CCDS74256.1
    UniProtKB/Swiss-Prot
    Q6NUT3
    Related
    ENSP00000467207.1, ENST00000588918.5
    Conserved Domains (2) summary
    cd06174
    Location:262402
    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 ...
    pfam13347
    Location:22414
    MFS_2; MFS/sugar transport protein
  2. NM_174983.5NP_778148.2  major facilitator superfamily domain-containing protein 12 isoform c

    See identical proteins and their annotated locations for NP_778148.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) represents the longer transcript and encodes the longer isoform (c).
    Source sequence(s)
    AC005786, BC068439, HY061678
    Consensus CDS
    CCDS42465.1
    UniProtKB/Swiss-Prot
    Q6NUT3
    Related
    ENSP00000347583.1, ENST00000355415.7
    Conserved Domains (2) summary
    cd06174
    Location:271411
    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 ...
    cl21472
    Location:15183
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    3538270..3557592 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006722647.3XP_006722710.1  major facilitator superfamily domain-containing protein 12 isoform X1

    UniProtKB/Swiss-Prot
    Q6NUT3
    Conserved Domains (2) summary
    cd06174
    Location:271411
    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 ...
    cl21472
    Location:15183
    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 ...
  2. XM_011527684.2XP_011525986.1  major facilitator superfamily domain-containing protein 12 isoform X3

    UniProtKB/Swiss-Prot
    Q6NUT3
    Conserved Domains (2) summary
    cd06174
    Location:271411
    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 ...
    cl21472
    Location:15183
    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 ...
  3. XM_005259490.4XP_005259547.1  major facilitator superfamily domain-containing protein 12 isoform X2

    Conserved Domains (2) summary
    pfam13347
    Location:22351
    MFS_2; MFS/sugar transport protein
    cl21472
    Location:15183
    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 ...
  4. XM_017026288.1XP_016881777.1  major facilitator superfamily domain-containing protein 12 isoform X4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001042680.1: Suppressed sequence

    Description
    NM_001042680.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_021731.2: Suppressed sequence

    Description
    NM_021731.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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