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    MFSD14A major facilitator superfamily domain containing 14A [ Homo sapiens (human) ]

    Gene ID: 64645, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MFSD14Aprovided by HGNC
    Official Full Name
    major facilitator superfamily domain containing 14Aprovided by HGNC
    Primary source
    HGNC:HGNC:23363
    See related
    Ensembl:ENSG00000156875 MIM:620347; AllianceGenome:HGNC:23363
    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
    HAIT1; HIAT1
    Summary
    Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to act upstream of or within acrosome assembly; sperm mitochondrion organization; and spermatid nucleus differentiation. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 31.6), testis (RPKM 26.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MFSD14A in Genome Data Viewer
    Location:
    1p21.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (100038095..100083377)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (99886211..99931496)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (100503651..100548933)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904230 Neighboring gene solute carrier family 35 member A3 Neighboring gene RNA, U6 small nuclear 750, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:100471652-100472152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:100472153-100472653 Neighboring gene RNA, U6 small nuclear 1318, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:100503123-100503725 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1366 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:100514024-100514739 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1371 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1372 Neighboring gene SAS-6 centriolar assembly protein Neighboring gene ReSE screen-validated silencer GRCh37_chr1:100578889-100579078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1373 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:100598108-100598271 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:100598267-100598869 Neighboring gene Sharpr-MPRA regulatory region 13340 Neighboring gene tRNA methyltransferase 13 homolog Neighboring gene leucine rich repeat containing 39

    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 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. Cloning of a cDNA encoding a novel sugar transporter expressed in the neonatal mouse hippocampus. Matsuo N, et al. Biochem Biophys Res Commun, 1997 Sep 8. PMID 9299464
    2. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. Otsuki T, et al. DNA Res, 2005. PMID 16303743
    3. Systematic protein-protein interaction mapping for clinically relevant human GPCRs. Sokolina K, et al. Mol Syst Biol, 2017 Mar 15. PMID 28298427, Free PMC Article
    4. TNIP2 is a Hub Protein in the NF-κB Network with Both Protein and RNA Mediated Interactions. Banks CA, et al. Mol Cell Proteomics, 2016 Nov. PMID 27609421, 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 (10) 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

    • DKFZp564L0864

    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 acrosome assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sperm mitochondrion organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatid nucleus differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 1 protein
    Names
    hippocampus abundant gene transcript 1
    putative tetracycline transporter-like protein
    tetracycline transporter-like protein

    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_033055.3 → NP_149044.2  hippocampus abundant transcript 1 protein

      See identical proteins and their annotated locations for NP_149044.2

      Status: VALIDATED

      Source sequence(s)
      AC093019, AF427492, AK075208, BC033696
      Consensus CDS
      CCDS763.1
      UniProtKB/Swiss-Prot
      Q6P2N7, Q8N8K2, Q8NBV3, Q96MC6, Q96NY0, Q9NT25
      UniProtKB/TrEMBL
      Q32Q64
      Related
      ENSP00000359171.3, ENST00000370152.8
      Conserved Domains (1) summary
      cd17387
      Location:37 → 449
      MFS_MFSD14; Major facilitator superfamily domain-containing 14A and 14B

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      100038095..100083377
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541957.2 → XP_011540259.1  hippocampus abundant transcript 1 protein isoform X2

      UniProtKB/TrEMBL
      Q32Q64
      Conserved Domains (2) summary
      cd06174
      Location:40 → 359
      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:42 → 348
      MFS_1; Major Facilitator Superfamily

    2. XM_047427999.1 → XP_047283955.1  hippocampus abundant transcript 1 protein isoform X3

    3. XM_047427996.1 → XP_047283952.1  hippocampus abundant transcript 1 protein isoform X1

    4. XM_017002084.2 → XP_016857573.1  hippocampus abundant transcript 1 protein isoform X1

      UniProtKB/TrEMBL
      Q32Q64
      Conserved Domains (1) summary
      cd17387
      Location:15 → 427
      MFS_MFSD14; Major facilitator superfamily domain-containing 14A and 14B

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      99886211..99931496
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338255.1 → XP_054194230.1  hippocampus abundant transcript 1 protein isoform X2

    2. XM_054338256.1 → XP_054194231.1  hippocampus abundant transcript 1 protein isoform X3

    3. XM_054338254.1 → XP_054194229.1  hippocampus abundant transcript 1 protein isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96MC6.2 GenPept UniProtKB/Swiss-Prot:Q96MC6

    Gene LinkOut

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

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