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    SLC22A14 solute carrier family 22 member 14 [ Homo sapiens (human) ]

    Gene ID: 9389, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SLC22A14provided by HGNC
    Official Full Name
    solute carrier family 22 member 14provided by HGNC
    Primary source
    HGNC:HGNC:8495
    See related
    Ensembl:ENSG00000144671 MIM:604048; AllianceGenome:HGNC:8495
    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
    OCTL2; OCTL4; ORCTL4
    Summary
    This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 3. The encoded protein is a transmembrane protein which is thought to transport small molecules and since this protein is conserved among several species, it is suggested to have a fundamental role in mammalian systems. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
    Expression
    Restricted expression toward testis (RPKM 3.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC22A14 in Genome Data Viewer
    Location:
    3p22.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (38278832..38318575)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (38284541..38324319)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (38323785..38360066)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928234 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:38205703-38206902 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:38207186-38207801 Neighboring gene oxidative stress responsive kinase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14207 Neighboring gene Sharpr-MPRA regulatory region 12810 Neighboring gene Sharpr-MPRA regulatory region 5010 Neighboring gene solute carrier family 22 member 13 Neighboring gene CDC42 pseudogene 7 Neighboring gene RNA, U6 small nuclear 235, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38358039-38358575 Neighboring gene DLEC1 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:38388053-38388884 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:38388885-38389716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38415461-38415962 Neighboring gene xylulokinase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:38447285-38447785 Neighboring gene MPRA-validated peak4613 silencer Neighboring gene ACVR2B antisense RNA 1

    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. SLC22A14 is a mitochondrial riboflavin transporter required for sperm oxidative phosphorylation and male fertility. Kuang W, et al. Cell Rep, 2021 Apr 20. PMID 33882315, Free PMC Article
    2. Molecular cloning, mapping, and characterization of two novel human genes, ORCTL3 and ORCTL4, bearing homology to organic-cation transporters. Nishiwaki T, et al. Cytogenet Cell Genet, 1998. PMID 10072596
    3. Molecular cloning of a candidate tumor suppressor gene, DLC1, from chromosome 3p21.3. Daigo Y, et al. Cancer Res, 1999 Apr 15. PMID 10213508
    4. Characterization of a 1200-kb genomic segment of chromosome 3p22-p21.3. Daigo Y, et al. DNA Res, 1999 Feb 26. PMID 10231028
    5. Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. Saleheen D, et al. Nature, 2017 Apr 12. PMID 28406212, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
    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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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-02-02)

    ClinGen Genome Curation Page
    Haploinsufficency

    Dosage sensitivity unlikely (Last evaluated 2021-02-02)

    ClinGen Genome Curation PagePubMed

    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

    • MGC163415

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables riboflavin transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in flagellated sperm motility IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in riboflavin transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sperm capacitation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in sperm principal piece IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    solute carrier family 22 member 14
    Names
    organic cation transporter-like 4
    organic cationic transporter-like 4
    solute carrier family 22 (organic cation transporter), member 14

    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_001320033.2 → NP_001306962.1  solute carrier family 22 member 14

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AI446196, AK315317, AP006193, DB024161, HY221852
      Consensus CDS
      CCDS2677.1
      UniProtKB/Swiss-Prot
      A0AVS9, A1L4H6, B2RCX3, Q6DJT3, Q9Y267
      Related
      ENSP00000396283.1, ENST00000448498.6
      Conserved Domains (2) summary
      cd06174
      Location:189 → 560
      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 ...
      TIGR00898
      Location:60 → 569
      2A0119; cation transport protein

    2. NM_004803.4 → NP_004794.2  solute carrier family 22 member 14

      See identical proteins and their annotated locations for NP_004794.2

      Status: VALIDATED

      Source sequence(s)
      AB011082, AI446196, AP006193, BC130543, HY221852
      Consensus CDS
      CCDS2677.1
      UniProtKB/Swiss-Prot
      A0AVS9, A1L4H6, B2RCX3, Q6DJT3, Q9Y267
      Related
      ENSP00000273173.4, ENST00000273173.4
      Conserved Domains (2) summary
      cd06174
      Location:189 → 560
      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 ...
      TIGR00898
      Location:60 → 569
      2A0119; cation transport protein

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      38278832..38318575
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006713416.4 → XP_006713479.2  solute carrier family 22 member 14 isoform X1

      Conserved Domains (2) summary
      cd06174
      Location:270 → 641
      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 ...
      TIGR00898
      Location:141 → 650
      2A0119; cation transport protein

    2. XM_006713418.5 → XP_006713481.2  solute carrier family 22 member 14 isoform X3

      Conserved Domains (2) summary
      cd06174
      Location:270 → 399
      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 ...
      TIGR00898
      Location:141 → 596
      2A0119; cation transport protein

    3. XM_006713417.4 → XP_006713480.2  solute carrier family 22 member 14 isoform X2

      Conserved Domains (2) summary
      cd06174
      Location:270 → 630
      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 ...
      TIGR00898
      Location:141 → 639
      2A0119; cation transport protein

    4. XM_011534247.3 → XP_011532549.1  solute carrier family 22 member 14 isoform X5

      Conserved Domains (2) summary
      cd06174
      Location:270 → 399
      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 ...
      TIGR00898
      Location:141 → 468
      2A0119; cation transport protein

    5. XM_047449237.1 → XP_047305193.1  solute carrier family 22 member 14 isoform X4

      UniProtKB/Swiss-Prot
      A0AVS9, A1L4H6, B2RCX3, Q6DJT3, Q9Y267

    6. XM_047449236.1 → XP_047305192.1  solute carrier family 22 member 14 isoform X4

      UniProtKB/Swiss-Prot
      A0AVS9, A1L4H6, B2RCX3, Q6DJT3, Q9Y267

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      38284541..38324319
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348441.1 → XP_054204416.1  solute carrier family 22 member 14 isoform X1

    2. XM_054348443.1 → XP_054204418.1  solute carrier family 22 member 14 isoform X3

    3. XM_054348442.1 → XP_054204417.1  solute carrier family 22 member 14 isoform X2

    4. XM_054348445.1 → XP_054204420.1  solute carrier family 22 member 14 isoform X5

    5. XM_054348446.1 → XP_054204421.1  solute carrier family 22 member 14 isoform X4

    6. XM_054348444.1 → XP_054204419.1  solute carrier family 22 member 14 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y267.4 GenPept UniProtKB/Swiss-Prot:Q9Y267

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