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

Gene ID: 9389, updated on 3-Nov-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
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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 (20) 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

Gene LinkOut

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