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    SLC14A1 solute carrier family 14 member 1 (Kidd blood group) [ Homo sapiens (human) ]

    Gene ID: 6563, updated on 3-Apr-2024

    Summary

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    Official Symbol
    SLC14A1provided by HGNC
    Official Full Name
    solute carrier family 14 member 1 (Kidd blood group)provided by HGNC
    Primary source
    HGNC:HGNC:10918
    See related
    Ensembl:ENSG00000141469 MIM:613868; AllianceGenome:HGNC:10918
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    JK; UT1; UTE; HUT11; Jk(a); Jk(b); RACH1; RACH2; UT-B1; HUT11A; HsT1341
    Summary
    The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009]
    Expression
    Biased expression in prostate (RPKM 18.0), urinary bladder (RPKM 11.5) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    18q12.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (45724181..45752520)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (45915156..45943497)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (43304146..43332485)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 14 member 2 Neighboring gene SLC14A2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9415 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:42982182-42983381 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13262 Neighboring gene VISTA enhancer hs1464 Neighboring gene VISTA enhancer hs1440 Neighboring gene uncharacterized LOC105372093 Neighboring gene uncharacterized LOC105372092 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:43386185-43386686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13263 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:43408730-43409428 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:43418307-43418808 Neighboring gene sialic acid binding Ig like lectin 15 Neighboring gene Sharpr-MPRA regulatory region 10800 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:43478156-43479355 Neighboring gene ectopic P-granules 5 autophagy tethering factor Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:43530707-43531906 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:43547054-43547555 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:43557301-43557872 Neighboring gene RN7SK pseudogene 26 Neighboring gene proline-serine-threonine phosphatase interacting protein 2

    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. SLC14A1 is a new biomarker in renal cancer. Wan Z, et al. Clin Transl Oncol, 2023 Aug. PMID 37004669
    2. Study on the role of SLC14A1 gene in biochemical recurrence of prostate cancer. Ye B, et al. Sci Rep, 2022 Oct 18. PMID 36257969, Free PMC Article
    3. Decreased Expression of the Human Urea Transporter SLC14A1 in Bone is Induced by Cytokines and Stimulates Adipogenesis of Mesenchymal Progenitor Cells. Komrakova M, et al. Exp Clin Endocrinol Diabetes, 2020 Sep. PMID 31958845
    4. A novel JK null allele in a Brazilian patient with sickle cell disease (SCD). Castilho L, et al. Transfusion, 2019 Jul. PMID 30964549
    5. Urea transport B gene induces melanoma B16 cell death via activation of p53 and mitochondrial apoptosis. Liu L, et al. Cancer Sci, 2018 Dec. PMID 30290033, Free PMC Article

    See all (71) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SLC14A1 is a new biomarker in renal cancer.
      Title: SLC14A1 is a new biomarker in renal cancer.
    2. Study on the role of SLC14A1 gene in biochemical recurrence of prostate cancer.
      Title: Study on the role of SLC14A1 gene in biochemical recurrence of prostate cancer.
    3. A potential link between AQP3 and SLC14A1 gene expression level and clinical parameters of maintenance hemodialysis patients.
      Title: A potential link between AQP3 and SLC14A1 gene expression level and clinical parameters of maintenance hemodialysis patients.
    4. Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program.
      Title: Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program.
    5. SLC14A1 prevents oncometabolite accumulation and recruits HDAC1 to transrepress oncometabolite genes in urothelial carcinoma.
      Title: SLC14A1 prevents oncometabolite accumulation and recruits HDAC1 to transrepress oncometabolite genes in urothelial carcinoma.
    6. Decreased Expression of the Human Urea Transporter SLC14A1 in Bone is Induced by Cytokines and Stimulates Adipogenesis of Mesenchymal Progenitor Cells.
      Title: Decreased Expression of the Human Urea Transporter SLC14A1 in Bone is Induced by Cytokines and Stimulates Adipogenesis of Mesenchymal Progenitor Cells.
    7. A novel JK null allele in a Brazilian patient with sickle cell disease (SCD).
      Title: A novel JK null allele in a Brazilian patient with sickle cell disease (SCD).
    8. Study found that UT-B expression is decreased in human melanoma tissue. Its overexpression plays a role in tumor growth regulation of melanoma cell lines and animal transplantation models, and this, combined with findings from UT-B inhibition in bladder cancer, suggests that UT-B may have tumor suppressor functions.
      Title: Urea transport B gene induces melanoma B16 cell death via activation of p53 and mitochondrial apoptosis.
    9. The urea transporter subtypes, UT-A1 and UT-B1, were expressed in the skin basal cell layer and exocrine sweat glands. The abundance of UT-A1 and UT-B1 in uremic sweat glands was significantly increased in UP, while the expression of AQP5 was decreased.
      Title: The Expression of AQP5 and UTs in the Sweat Glands of Uremic Patients.
    10. In addition to the well known Polynesian Jknull allele, three Jknull alleles were detected including one novel Jknull allele: JKA (130A, 220G).
      Title: Molecular genetic analysis of the Jk(a-b-) phenotype in Chinese: A novel silent recessive JK allele.
    Submit: New GeneRIF Correction See all GeneRIFs (38)

    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

    Associated conditions

    Description Tests
    BLOOD GROUP--KIDD SYSTEM
    MedGen: C0022645 OMIM: 111000 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study of bladder cancer identifies a new susceptibility locus within SLC14A1, a urea transporter gene on chromosome 18q12.3.
    EBI GWAS Catalog
    European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple loci associated with bladder cancer risk.
    EBI GWAS Catalog

    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat downregulates the expression of solute carrier family 14, member 1 (SLC14A1) in human primary T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ33745, FLJ41687

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables urea channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables urea transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables urea transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables water transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in urea transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in urea transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in urea transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in water transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in basolateral plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    urea transporter 1
    Names
    Kidd blood group antigen
    SLC14A1 JK
    mutant KIDD blood group antigen
    solute carrier family 14 (urea transporter), member 1 (Kidd blood group)
    urea transporter JK glycoprotein
    urea transporter, erythrocyte
    urea transporter-B1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_011775.4 RefSeqGene

      Range
      42157..70496
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_802

    mRNA and Protein(s)

    1. NM_001128588.4 → NP_001122060.3  urea transporter 1 isoform 1

      See identical proteins and their annotated locations for NP_001122060.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 4. Variants 1 and 4 both encode the same isoform (1).
      Source sequence(s)
      AC023421, AK289608, DA186606
      Consensus CDS
      CCDS45860.1
      UniProtKB/TrEMBL
      A0A7L9QHR7, F6IQ87
      Related
      ENSP00000412309.2, ENST00000415427.7
      Conserved Domains (1) summary
      pfam03253
      Location:115 → 410
      UT; Urea transporter

    2. NM_001146036.3 → NP_001139508.2  urea transporter 1 isoform 2

      See identical proteins and their annotated locations for NP_001139508.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an in-frame portion of the 5' coding sequence compared to variant 4. The resulting isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2 and 3 both encode the same isoform (2).
      Source sequence(s)
      AC023421, AK289608, DA186606, DA473671
      Consensus CDS
      CCDS11925.1
      UniProtKB/Swiss-Prot
      A8K0P3, B3KR62, B3KVX3, C9EHF2, Q13336, Q86VM5
      UniProtKB/TrEMBL
      A0A7L9QHR7, F6IQ87, G0W2N5
      Related
      ENSP00000465702.2, ENST00000586951.6
      Conserved Domains (1) summary
      pfam03253
      Location:59 → 354
      UT; Urea transporter

    3. NM_001146037.1 → NP_001139509.1  urea transporter 1 isoform 1

      See identical proteins and their annotated locations for NP_001139509.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (1). Variants 1 and 4 both encode the same isoform.
      Source sequence(s)
      AC023421, AK091064, BC050539, DA051199
      Consensus CDS
      CCDS45860.1
      UniProtKB/TrEMBL
      A0A7L9QHR7, F6IQ87
      Related
      ENSP00000390637.2, ENST00000436407.7
      Conserved Domains (1) summary
      pfam03253
      Location:115 → 410
      UT; Urea transporter

    4. NM_001308278.2 → NP_001295207.1  urea transporter 1 isoform 3

      See identical proteins and their annotated locations for NP_001295207.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and lacks an in-frame portion of the 5' coding sequence compared to variant 4. The resulting isoform (3) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC023421, AK294129, DA156178
      Consensus CDS
      CCDS82252.1
      UniProtKB/TrEMBL
      B3KXJ3, B4DFJ8, E7EQN3
      Related
      ENSP00000385320.2, ENST00000402943.6
      Conserved Domains (1) summary
      pfam03253
      Location:2 → 249
      UT; Urea transporter

    5. NM_001308279.2 → NP_001295208.1  urea transporter 1 isoform 4

      See identical proteins and their annotated locations for NP_001295208.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and lacks an in-frame portion of the 5' coding sequence compared to variant 4. The resulting isoform (4) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC023421, AK295268, DA156178
      Consensus CDS
      CCDS77181.1
      UniProtKB/TrEMBL
      B4DHU3, F5GWS2, M0QX00
      Related
      ENSP00000441998.1, ENST00000535474.5
      Conserved Domains (1) summary
      pfam03253
      Location:1 → 222
      UT; Urea transporter

    6. NM_015865.7 → NP_056949.4  urea transporter 1 isoform 2

      See identical proteins and their annotated locations for NP_056949.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an in-frame portion of the 5' coding sequence compared to variant 4. The resulting isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2 and 3 both encode the same isoform (2).
      Source sequence(s)
      AC023421, AV724913, DA134800, Y19039
      Consensus CDS
      CCDS11925.1
      UniProtKB/Swiss-Prot
      A8K0P3, B3KR62, B3KVX3, C9EHF2, Q13336, Q86VM5
      UniProtKB/TrEMBL
      A0A7L9QHR7, F6IQ87, G0W2N5
      Related
      ENSP00000318546.4, ENST00000321925.9
      Conserved Domains (1) summary
      pfam03253
      Location:59 → 354
      UT; Urea transporter

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      45724181..45752520
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005258329.2 → XP_005258386.1  urea transporter 1 isoform X2

      UniProtKB/TrEMBL
      A0A2I6PCQ9
      Conserved Domains (1) summary
      pfam03253
      Location:115 → 387
      UT; Urea transporter

    2. XM_047437758.1 → XP_047293714.1  urea transporter 1 isoform X1

    3. XM_006722526.4 → XP_006722589.1  urea transporter 1 isoform X1

      See identical proteins and their annotated locations for XP_006722589.1

      UniProtKB/TrEMBL
      A0A7L9QHR7, F6IQ87
      Conserved Domains (1) summary
      pfam03253
      Location:94 → 389
      UT; Urea transporter

    4. XM_005258333.2 → XP_005258390.1  urea transporter 1 isoform X5

      See identical proteins and their annotated locations for XP_005258390.1

      UniProtKB/TrEMBL
      B4DHU3, F5GWS2, M0QX00
      Related
      ENSP00000466273.3, ENST00000589322.7
      Conserved Domains (1) summary
      pfam03253
      Location:1 → 222
      UT; Urea transporter

    5. XM_011526144.2 → XP_011524446.1  urea transporter 1 isoform X4

      UniProtKB/TrEMBL
      A0A2I6PCQ9
      Conserved Domains (1) summary
      pfam03253
      Location:115 → 371
      UT; Urea transporter

    6. XM_047437759.1 → XP_047293715.1  urea transporter 1 isoform X3

    7. XM_011526142.2 → XP_011524444.1  urea transporter 1 isoform X1

      See identical proteins and their annotated locations for XP_011524444.1

      UniProtKB/TrEMBL
      A0A7L9QHR7, F6IQ87
      Conserved Domains (1) summary
      pfam03253
      Location:94 → 389
      UT; Urea transporter

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      45915156..45943497
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319022.1 → XP_054174997.1  urea transporter 1 isoform X2

    2. XM_054319021.1 → XP_054174996.1  urea transporter 1 isoform X1

    3. XM_054319020.1 → XP_054174995.1  urea transporter 1 isoform X1

    4. XM_054319025.1 → XP_054175000.1  urea transporter 1 isoform X5

    5. XM_054319024.1 → XP_054174999.1  urea transporter 1 isoform X4

    6. XM_054319023.1 → XP_054174998.1  urea transporter 1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13336.2 GenPept UniProtKB/Swiss-Prot:Q13336

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