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

    Gene ID: 256471, updated on 23-Nov-2023

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MFSD8 in Genome Data Viewer
    Location:
    4q28.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (127917732..127965963, complement)
    RS_2023_10 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 NANOG-H3K27ac hESC enhancer GRCh37_chr4:128767199-128767740 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_73803 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21887 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_73815 Neighboring gene RNA, U6 small nuclear 583, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_73859 Neighboring gene polo like kinase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15675 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:128886145-128886760 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15677 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15676 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:128887439-128887940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:128887941-128888440 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15679 Neighboring gene abhydrolase domain containing 18 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_73920 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_73968 Neighboring gene H3K27ac hESC enhancers GRCh37_chr4:128981832-128982690 and GRCh37_chr4:128982691-128983549 Neighboring gene MPRA-validated peak5106 silencer 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

    Clone Names

    • MGC33302

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chloride channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables fluoride channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables iodide transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fluoride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in iodide transport 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
     
    Component Evidence Code Pubs
    part_of chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosomal membrane HDA PubMed 
    is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    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)

    NEW Try the new Transcript table

    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, A0A286YFI9
      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, A0A286YFI9
      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, B7Z2P8
      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
      UniProtKB/TrEMBL
      B7Z2P8
      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
      UniProtKB/TrEMBL
      B7Z2P8
      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, A0A286YFI9
      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
      UniProtKB/TrEMBL
      A0A286YFI9
      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
      B7Z2P8, 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
      B2RDM1, B7Z205, Q8N2P3, Q8NHS3
      UniProtKB/TrEMBL
      B7Z2P8
      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
      Related
      ENSP00000493133.1, ENST00000641147.1
    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, B7Z280
      Related
      ENSP00000493132.1, ENST00000641590.1
    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
      B2RDM1, B7Z205, Q8N2P3, Q8NHS3
      UniProtKB/TrEMBL
      B7Z2P8
      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: GCF_000001405.40-RS_2023_10

    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_024453982.2XP_024309750.1  major facilitator superfamily domain-containing protein 8 isoform X1

      UniProtKB/TrEMBL
      A0A286YFI9
      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 ...
    2. XM_047449993.1XP_047305949.1  major facilitator superfamily domain-containing protein 8 isoform X3

      UniProtKB/TrEMBL
      B7Z2P8
    3. XM_047449992.1XP_047305948.1  major facilitator superfamily domain-containing protein 8 isoform X2

      UniProtKB/TrEMBL
      B7Z2P8, E7ERQ4
      Conserved Domains (1) summary
      cd17326
      Location:1413
      MFS_MFSD8; Major facilitator superfamily domain-containing protein 8
    4. XM_047449998.1XP_047305954.1  major facilitator superfamily domain-containing protein 8 isoform X9

      UniProtKB/TrEMBL
      B7Z280
    5. XM_047449995.1XP_047305951.1  major facilitator superfamily domain-containing protein 8 isoform X7

      UniProtKB/TrEMBL
      A0A286YEV9, A0A286YEX1
      Related
      ENSP00000493056.1, ENST00000515130.6
    6. XM_017007989.2XP_016863478.1  major facilitator superfamily domain-containing protein 8 isoform X6

      UniProtKB/TrEMBL
      A0A286YFK4, A0A286YFM2
      Related
      ENSP00000493194.1, ENST00000641228.1
    7. XM_047449994.1XP_047305950.1  major facilitator superfamily domain-containing protein 8 isoform X5

      UniProtKB/TrEMBL
      A0A286YFK4
    8. XM_005262898.4XP_005262955.1  major facilitator superfamily domain-containing protein 8 isoform X4

      UniProtKB/TrEMBL
      A0A286YF73, B7Z280
      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
    9. XM_047449999.1XP_047305955.1  major facilitator superfamily domain-containing protein 8 isoform X10

      UniProtKB/TrEMBL
      B7Z2B2
      Related
      ENSP00000492925.1, ENST00000641134.1
    10. XM_047449997.1XP_047305953.1  major facilitator superfamily domain-containing protein 8 isoform X8

      UniProtKB/TrEMBL
      A0A286YF82, 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)

    mRNA and Protein(s)

    1. XM_054349563.1XP_054205538.1  major facilitator superfamily domain-containing protein 8 isoform X1

      UniProtKB/TrEMBL
      A0A286YFI9
    2. XM_054349565.1XP_054205540.1  major facilitator superfamily domain-containing protein 8 isoform X3

      UniProtKB/TrEMBL
      B7Z2P8
    3. XM_054349564.1XP_054205539.1  major facilitator superfamily domain-containing protein 8 isoform X2

      UniProtKB/TrEMBL
      B7Z2P8, E7ERQ4
    4. XM_054349571.1XP_054205546.1  major facilitator superfamily domain-containing protein 8 isoform X9

      UniProtKB/TrEMBL
      B7Z280
    5. XM_054349569.1XP_054205544.1  major facilitator superfamily domain-containing protein 8 isoform X7

      UniProtKB/TrEMBL
      A0A286YEV9, A0A286YEX1
    6. XM_054349568.1XP_054205543.1  major facilitator superfamily domain-containing protein 8 isoform X6

      UniProtKB/TrEMBL
      A0A286YFK4, A0A286YFM2
    7. XM_054349567.1XP_054205542.1  major facilitator superfamily domain-containing protein 8 isoform X5

      UniProtKB/TrEMBL
      A0A286YFK4
    8. XM_054349566.1XP_054205541.1  major facilitator superfamily domain-containing protein 8 isoform X4

      UniProtKB/TrEMBL
      A0A286YF73, B7Z280
    9. XM_054349572.1XP_054205547.1  major facilitator superfamily domain-containing protein 8 isoform X10

      UniProtKB/TrEMBL
      B7Z2B2
    10. XM_054349570.1XP_054205545.1  major facilitator superfamily domain-containing protein 8 isoform X8

      UniProtKB/TrEMBL
      A0A286YF82, A0A286YFC6