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    MFSD6L major facilitator superfamily domain containing 6 like [ Homo sapiens (human) ]

    Gene ID: 162387, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MFSD6Lprovided by HGNC
    Official Full Name
    major facilitator superfamily domain containing 6 likeprovided by HGNC
    Primary source
    HGNC:HGNC:26656
    See related
    Ensembl:ENSG00000185156 AllianceGenome:HGNC:26656
    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
    Summary
    Predicted to be active in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
    mouse all
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    Genomic context

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    See MFSD6L in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (8797110..8799365, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (8703310..8705565, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (8700428..8702683, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371529 Neighboring gene speedy/RINGO cell cycle regulator family member E4 Neighboring gene uncharacterized LOC105371530 Neighboring gene uncharacterized LOC124903918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11703 Neighboring gene MPRA-validated peak2720 silencer Neighboring gene phosphoinositide-3-kinase regulatory subunit 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:8730902-8731702 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:8731703-8732503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11705 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:8740143-8740949 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11707 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11711 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11712 Neighboring gene uncharacterized LOC107985071

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Deficiency of MFSD6L, an acrosome membrane protein, causes oligoasthenoteratozoospermia in humans and mice.
      Title: Deficiency of MFSD6L, an acrosome membrane protein, causes oligoasthenoteratozoospermia in humans and mice.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    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)

    Genotypes

    General gene information

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    Homology

    Clone Names

    • FLJ35773

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    major facilitator superfamily domain-containing protein 6-like

    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_152599.4 → NP_689812.3  major facilitator superfamily domain-containing protein 6-like

      See identical proteins and their annotated locations for NP_689812.3

      Status: VALIDATED

      Source sequence(s)
      AC009451, AK093092, BM986935
      Consensus CDS
      CCDS11146.1
      UniProtKB/Swiss-Prot
      Q6YL34, Q8IWD5, Q8NA76
      Related
      ENSP00000330051.4, ENST00000329805.6
      Conserved Domains (2) summary
      cd06174
      Location:368 → 529
      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:28 → 87
      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

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      8797110..8799365 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      8703310..8705565 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IWD5.2 GenPept UniProtKB/Swiss-Prot:Q8IWD5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
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