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    MFSD14B major facilitator superfamily domain containing 14B [ Homo sapiens (human) ]

    Gene ID: 84641, updated on 5-Mar-2024

    Summary

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    Official Symbol
    MFSD14Bprovided by HGNC
    Official Full Name
    major facilitator superfamily domain containing 14Bprovided by HGNC
    Primary source
    HGNC:HGNC:23376
    See related
    Ensembl:ENSG00000148110 MIM:620348; AllianceGenome:HGNC:23376
    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
    HIATL1
    Summary
    Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in esophagus (RPKM 21.3), lung (RPKM 18.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MFSD14B in Genome Data Viewer
    Location:
    9q22.32
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (94374417..94461042)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (106544066..106630677)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (97136851..97223324)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100132077 Neighboring gene proline-rich nuclear receptor coactivator 2-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:97103095-97103595 Neighboring gene prothymosin alpha pseudogene 12 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:97136619-97137120 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:97137121-97137620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28631 Neighboring gene yrdC N(6)-threonylcarbamoyltransferase domain containing pseudogene 1 Neighboring gene MPRA-validated peak7296 silencer Neighboring gene uncharacterized LOC107987100 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_110230 Neighboring gene MPRA-validated peak7297 silencer Neighboring gene leishmanolysin like peptidase pseudogene Neighboring gene RNA, U6 small nuclear 669, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_110244 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_110264 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_110288 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_110294 Neighboring gene uncharacterized LOC124902218 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:97315577-97316239 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:97316904-97317566 Neighboring gene prostate cancer associated transcript 7

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Genome-Wide Interaction Analyses between Genetic Variants and Alcohol Consumption and Smoking for Risk of Colorectal Cancer. Gong J, et al. PLoS Genet, 2016 Oct. PMID 27723779, Free PMC Article
    2. A protein interaction framework for human mRNA degradation. Lehner B, et al. Genome Res, 2004 Jul. PMID 15231747, Free PMC Article
    3. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article
    4. Control of a neuronal morphology program by an RNA-binding zinc finger protein, Unkempt. Murn J, et al. Genes Dev, 2015 Mar 1. PMID 25737280, Free PMC Article
    5. Ubiquitin-mediated proteolysis of HuR by heat shock. Abdelmohsen K, et al. EMBO J, 2009 May 6. PMID 19322201, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ14753, MGC117350

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    hippocampus abundant transcript-like protein 1
    Names
    hippocampus abundant transcript-like 1

    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_032558.3 → NP_115947.2  hippocampus abundant transcript-like protein 1

      See identical proteins and their annotated locations for NP_115947.2

      Status: VALIDATED

      Source sequence(s)
      AL358232, BC106062, BU507687, BX359483
      Consensus CDS
      CCDS6710.2
      UniProtKB/Swiss-Prot
      B4DUE6, E9PD58, Q3KQT4, Q53GU5, Q5SR56, Q8WU95, Q96SM4
      Related
      ENSP00000364493.3, ENST00000375344.8
      Conserved Domains (2) summary
      cd06174
      Location:48 → 450
      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:49 → 394
      MFS_1; Major Facilitator Superfamily

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      94374417..94461042
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017015218.2 → XP_016870707.1  hippocampus abundant transcript-like protein 1 isoform X4

      Conserved Domains (2) summary
      cd06174
      Location:18 → 385
      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:18 → 329
      MFS_1; Major Facilitator Superfamily

    2. XM_017015219.3 → XP_016870708.1  hippocampus abundant transcript-like protein 1 isoform X1

    3. XM_047423972.1 → XP_047279928.1  hippocampus abundant transcript-like protein 1 isoform X2

    4. XM_047423973.1 → XP_047279929.1  hippocampus abundant transcript-like protein 1 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      106544066..106630677
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364016.1 → XP_054219991.1  hippocampus abundant transcript-like protein 1 isoform X4

    2. XM_054364013.1 → XP_054219988.1  hippocampus abundant transcript-like protein 1 isoform X1

    3. XM_054364014.1 → XP_054219989.1  hippocampus abundant transcript-like protein 1 isoform X2

    4. XM_054364015.1 → XP_054219990.1  hippocampus abundant transcript-like protein 1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5SR56.3 GenPept UniProtKB/Swiss-Prot:Q5SR56

    Gene LinkOut

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

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