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

Gene ID: 64645, updated on 3-Apr-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
1p21.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (100038095..100083377)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (99886211..99931496)
105.20220307 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
  • 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_2023_10

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

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