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MFSD8 major facilitator superfamily domain containing 8 [ Homo sapiens (human) ]

Gene ID: 256471, updated on 6-Nov-2022

Summary

Official Symbol
MFSD8provided by HGNC
Official Full Name
major facilitator superfamily domain containing 8provided by HGNC
Primary source
HGNC:HGNC:28486
See related
Ensembl:ENSG00000164073 MIM:611124; AllianceGenome:HGNC:28486
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CCMD; CLN7
Summary
This gene encodes a ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamily (MFS) domain. Other members of the major facilitator superfamily transport small solutes through chemiosmotic ion gradients. The substrate transported by this protein is unknown. The protein likely localizes to lysosomal membranes. Mutations in this gene are correlated with a variant form of late infantile-onset neuronal ceroid lipofuscinoses (vLINCL). [provided by RefSeq, Oct 2008]
Expression
Ubiquitous expression in skin (RPKM 4.9), thyroid (RPKM 4.1) and 25 other tissues See more
Orthologs
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Genomic context

See MFSD8 in Genome Data Viewer
Location:
4q28.2
Exon count:
13
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (127917732..127965963, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (131220758..131270005, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (128838887..128887118, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene heat shock protein family A (Hsp70) member 4 like Neighboring gene ribosomal protein L21 pseudogene 53 Neighboring gene RNA, U6 small nuclear 583, pseudogene Neighboring gene polo like kinase 4 Neighboring gene abhydrolase domain containing 18 Neighboring gene La ribonucleoprotein 1B Neighboring gene ribosomal protein L15 pseudogene 8 Neighboring gene FOSL1 pseudogene 1

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

  • MGC33302

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in TORC1 signaling IEA
Inferred from Electronic Annotation
more info
 
involved_in autophagosome maturation IEA
Inferred from Electronic Annotation
more info
 
involved_in lysosome organization IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron development IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of autophagy IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of lysosomal protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in lysosomal membrane HDA PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
major facilitator superfamily domain-containing protein 8
Names
ceroid-lipofuscinosis, neuronal 7, late infantile

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.

Genomic

  1. NG_008657.1 RefSeqGene

    Range
    5022..53180
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_833

mRNA and Protein(s)

  1. NM_001363520.3NP_001350449.1  major facilitator superfamily domain-containing protein 8 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks two consecutive alternate exons compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC099340
    Consensus CDS
    CCDS87259.1
    UniProtKB/TrEMBL
    A0A286YEW8
    Related
    ENSP00000492966.1, ENST00000641690.1
    Conserved Domains (1) summary
    cd06174
    Location:39436
    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. NM_001363521.3NP_001350450.1  major facilitator superfamily domain-containing protein 8 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks three consecutive alternate exons compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC099340
    Consensus CDS
    CCDS87255.1
    UniProtKB/TrEMBL
    A0A286YFF1
    Related
    ENSP00000493459.1, ENST00000641509.1
    Conserved Domains (1) summary
    cd06174
    Location:39398
    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. NM_001371590.2NP_001358519.1  major facilitator superfamily domain-containing protein 8 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC099340
    Consensus CDS
    CCDS93626.1
    UniProtKB/TrEMBL
    A0A286YF45
    Related
    ENSP00000492989.1, ENST00000641178.1
    Conserved Domains (1) summary
    cd17326
    Location:1462
    MFS_MFSD8; Major facilitator superfamily domain-containing protein 8
  4. NM_001371591.2NP_001358520.1  major facilitator superfamily domain-containing protein 8 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC099340
    Related
    ENSP00000493260.1, ENST00000642042.1
    Conserved Domains (1) summary
    cd17326
    Location:39510
    MFS_MFSD8; Major facilitator superfamily domain-containing protein 8
  5. NM_001371592.2NP_001358521.1  major facilitator superfamily domain-containing protein 8 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC099340
    Conserved Domains (1) summary
    cd17326
    Location:39509
    MFS_MFSD8; Major facilitator superfamily domain-containing protein 8
  6. NM_001371593.2NP_001358522.1  major facilitator superfamily domain-containing protein 8 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC099340
    Consensus CDS
    CCDS93628.1
    UniProtKB/TrEMBL
    A0A286YFI8
    Related
    ENSP00000493347.1, ENST00000641186.1
    Conserved Domains (1) summary
    cd17326
    Location:39469
    MFS_MFSD8; Major facilitator superfamily domain-containing protein 8
  7. NM_001371594.2NP_001358523.1  major facilitator superfamily domain-containing protein 8 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC099340
    Conserved Domains (1) summary
    cd17326
    Location:39458
    MFS_MFSD8; Major facilitator superfamily domain-containing protein 8
  8. NM_001371595.1NP_001358524.1  major facilitator superfamily domain-containing protein 8 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC099340
    Consensus CDS
    CCDS93623.1
    UniProtKB/TrEMBL
    E7ERQ4
    Related
    ENSP00000425000.2, ENST00000513559.6
    Conserved Domains (1) summary
    cd17326
    Location:1413
    MFS_MFSD8; Major facilitator superfamily domain-containing protein 8
  9. NM_001371596.2NP_001358525.1  major facilitator superfamily domain-containing protein 8 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC099340
    Consensus CDS
    CCDS3736.1
    UniProtKB/Swiss-Prot
    Q8N2P3
    Related
    ENSP00000493218.2, ENST00000641686.2
    Conserved Domains (1) summary
    cd17326
    Location:39507
    MFS_MFSD8; Major facilitator superfamily domain-containing protein 8
  10. NM_001410765.1NP_001397694.1  major facilitator superfamily domain-containing protein 8 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC099340
    Consensus CDS
    CCDS93622.1
    UniProtKB/TrEMBL
    A0A286YFB5
  11. NM_001410766.1NP_001397695.1  major facilitator superfamily domain-containing protein 8 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC099340
    Consensus CDS
    CCDS93627.1
    UniProtKB/TrEMBL
    A0A286YF72
  12. NM_152778.4NP_689991.1  major facilitator superfamily domain-containing protein 8 isoform 1

    See identical proteins and their annotated locations for NP_689991.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript.
    Source sequence(s)
    AA242881, BC029503, BI553701, BQ015234, CB956202, CN310788, CX873070, DA481070
    Consensus CDS
    CCDS3736.1
    UniProtKB/Swiss-Prot
    Q8N2P3, Q8NHS3
    Related
    ENSP00000296468.3, ENST00000296468.8
    Conserved Domains (1) summary
    cd17326
    Location:39507
    MFS_MFSD8; Major facilitator superfamily domain-containing protein 8

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    127917732..127965963 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453983.2XP_024309751.1  major facilitator superfamily domain-containing protein 8 isoform X5

    Related
    ENSP00000493133.1, ENST00000641147.1
    Conserved Domains (1) summary
    cd06174
    Location:1353
    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_024453982.2XP_024309750.1  major facilitator superfamily domain-containing protein 8 isoform X1

    Conserved Domains (1) summary
    cd06174
    Location:1420
    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_047449993.1XP_047305949.1  major facilitator superfamily domain-containing protein 8 isoform X3

  4. XM_047449992.1XP_047305948.1  major facilitator superfamily domain-containing protein 8 isoform X2

    UniProtKB/TrEMBL
    E7ERQ4
    Conserved Domains (1) summary
    cd17326
    Location:1413
    MFS_MFSD8; Major facilitator superfamily domain-containing protein 8
  5. XM_047449998.1XP_047305954.1  major facilitator superfamily domain-containing protein 8 isoform X11

  6. XM_047449995.1XP_047305951.1  major facilitator superfamily domain-containing protein 8 isoform X9

    UniProtKB/TrEMBL
    A0A286YEX1
    Related
    ENSP00000493056.1, ENST00000515130.6
  7. XM_011531832.2XP_011530134.1  major facilitator superfamily domain-containing protein 8 isoform X6

    UniProtKB/TrEMBL
    A0A286YF72
    Related
    ENSP00000493132.1, ENST00000641590.1
    Conserved Domains (2) summary
    cd06174
    Location:39157
    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 ...
    pfam07690
    Location:42146
    MFS_1; Major Facilitator Superfamily
  8. XM_017007989.2XP_016863478.1  major facilitator superfamily domain-containing protein 8 isoform X8

    UniProtKB/TrEMBL
    A0A286YFM2
    Related
    ENSP00000493194.1, ENST00000641228.1
  9. XM_047449994.1XP_047305950.1  major facilitator superfamily domain-containing protein 8 isoform X7

  10. XM_005262898.4XP_005262955.1  major facilitator superfamily domain-containing protein 8 isoform X4

    UniProtKB/TrEMBL
    A0A286YF73
    Related
    ENSP00000493277.1, ENST00000641482.1
    Conserved Domains (2) summary
    cd06174
    Location:39186
    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 ...
    pfam07690
    Location:42186
    MFS_1; Major Facilitator Superfamily
  11. XM_047449999.1XP_047305955.1  major facilitator superfamily domain-containing protein 8 isoform X12

    UniProtKB/TrEMBL
    B7Z2B2
    Related
    ENSP00000492925.1, ENST00000641134.1
  12. XM_047449997.1XP_047305953.1  major facilitator superfamily domain-containing protein 8 isoform X10

    UniProtKB/TrEMBL
    A0A286YFC6
    Related
    ENSP00000493083.1, ENST00000641243.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    131220758..131270005 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)