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

Gene ID: 256471, updated on 14-Jun-2018
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; Vega:OTTHUMG00000133303
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
See MFSD8 in Genome Data Viewer
Location:
4q28.2
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (127917805..127966032, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (128838960..128887185, 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 domain family member 1B Neighboring gene ribosomal protein L15 pseudogene 8 Neighboring gene FOS like 1, AP-1 transcription factor subunit pseudogene 1

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC33302

Gene Ontology Provided by GOA

Process Evidence Code Pubs
lysosome organization IEA
Inferred from Electronic Annotation
more info
 
neuron development IEA
Inferred from Electronic Annotation
more info
 
regulation of autophagy IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
lysosomal membrane HDA PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
Preferred Names
major facilitator superfamily domain-containing protein 8
Names
ceroid-lipofuscinosis, neuronal 7, late infantile

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
    5001..53180
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001363520.1NP_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
  2. NM_001363521.1NP_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
  3. NM_152778.2NP_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 and encodes the longest isoform (1).
    Source sequence(s)
    AA242881, BC029503, BI553701, BQ015234, CB956202, CN310788, CX873070, DA481070
    Consensus CDS
    CCDS3736.1
    UniProtKB/Swiss-Prot
    Q8NHS3
    Related
    ENSP00000296468.3, OTTHUMP00000164425, ENST00000296468.8, OTTHUMT00000257097
    Conserved Domains (1) summary
    cd06174
    Location:39503
    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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    127917805..127966032 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453981.1XP_024309749.1  major facilitator superfamily domain-containing protein 8 isoform X3

    Related
    ENSP00000492989.1, ENST00000641178.1
    Conserved Domains (1) summary
    cd06174
    Location:1458
    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_024453983.1XP_024309751.1  major facilitator superfamily domain-containing protein 8 isoform X8

    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 ...
  3. XM_024453982.1XP_024309750.1  major facilitator superfamily domain-containing protein 8 isoform X6

    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 ...
  4. XM_011531831.1XP_011530133.1  major facilitator superfamily domain-containing protein 8 isoform X7

    UniProtKB/TrEMBL
    A0A286YFF1
    Related
    ENSP00000493459.1, ENST00000641509.1
    Conserved Domains (2) 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 ...
    pfam07690
    Location:42364
    MFS_1; Major Facilitator Superfamily
  5. XM_011531832.1XP_011530134.1  major facilitator superfamily domain-containing protein 8 isoform X10

    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
  6. XM_011531830.1XP_011530132.1  major facilitator superfamily domain-containing protein 8 isoform X2

    See identical proteins and their annotated locations for XP_011530132.1

    UniProtKB/TrEMBL
    A0A286YFI8
    Related
    ENSP00000493347.1, ENST00000641186.1
    Conserved Domains (2) summary
    cd06174
    Location:39465
    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
  7. XM_017007989.1XP_016863478.1  major facilitator superfamily domain-containing protein 8 isoform X11

    UniProtKB/TrEMBL
    A0A286YFM2
    Related
    ENSP00000493194.1, ENST00000641228.1
  8. XM_005262896.1XP_005262953.1  major facilitator superfamily domain-containing protein 8 isoform X4

    Related
    ENSP00000425000.2, ENST00000513559.6
    Conserved Domains (2) summary
    cd06174
    Location:39454
    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:42420
    MFS_1; Major Facilitator Superfamily
  9. XM_005262893.1XP_005262950.1  major facilitator superfamily domain-containing protein 8 isoform X1

    See identical proteins and their annotated locations for XP_005262950.1

    UniProtKB/Swiss-Prot
    Q8NHS3
    Related
    ENSP00000493218.1, ENST00000641686.1
    Conserved Domains (1) summary
    cd06174
    Location:39503
    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 ...
  10. XM_005262897.2XP_005262954.1  major facilitator superfamily domain-containing protein 8 isoform X5

    UniProtKB/TrEMBL
    A0A286YEW8
    Related
    ENSP00000492966.1, ENST00000641690.1
    Conserved Domains (2) 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 ...
    pfam07690
    Location:42402
    MFS_1; Major Facilitator Superfamily
  11. XM_005262898.3XP_005262955.1  major facilitator superfamily domain-containing protein 8 isoform X9

    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

RNA

  1. XR_001741195.1 RNA Sequence

    Related
    ENST00000641774.1
  2. XR_001741197.1 RNA Sequence

    Related
    ENST00000641133.1
  3. XR_001741196.1 RNA Sequence

    Related
    ENST00000641332.1
  4. XR_001741194.1 RNA Sequence

  5. XR_001741199.1 RNA Sequence

    Related
    ENST00000642078.1
  6. XR_001741198.2 RNA Sequence

    Related
    ENST00000641870.1
  7. XR_938717.2 RNA Sequence

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