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

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

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC14A1 in Genome Data Viewer
    Location:
    18q12.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (45724181..45752520)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (45915156..45943497)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    HIV-1 interactions

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ33745, FLJ41687

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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

    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)

    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_001128588.4NP_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:115410
      UT; Urea transporter
    2. NM_001146036.3NP_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:59354
      UT; Urea transporter
    3. NM_001146037.1NP_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:115410
      UT; Urea transporter
    4. NM_001308278.2NP_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:2249
      UT; Urea transporter
    5. NM_001308279.2NP_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:1222
      UT; Urea transporter
    6. NM_015865.7NP_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:59354
      UT; Urea transporter

    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_000018.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      A0A2I6PCQ9
      Conserved Domains (1) summary
      pfam03253
      Location:115387
      UT; Urea transporter
    2. XM_047437758.1XP_047293714.1  urea transporter 1 isoform X1

      UniProtKB/TrEMBL
      A0A7L9QHR7, F6IQ87
    3. XM_006722526.4XP_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:94389
      UT; Urea transporter
    4. XM_005258333.2XP_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:1222
      UT; Urea transporter
    5. XM_011526144.2XP_011524446.1  urea transporter 1 isoform X4

      UniProtKB/TrEMBL
      A0A2I6PCQ9
      Conserved Domains (1) summary
      pfam03253
      Location:115371
      UT; Urea transporter
    6. XM_047437759.1XP_047293715.1  urea transporter 1 isoform X3

      UniProtKB/TrEMBL
      A0A2I6PCQ9
    7. XM_011526142.2XP_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:94389
      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_054319022.1XP_054174997.1  urea transporter 1 isoform X2

      UniProtKB/TrEMBL
      A0A2I6PCQ9
    2. XM_054319021.1XP_054174996.1  urea transporter 1 isoform X1

      UniProtKB/TrEMBL
      A0A7L9QHR7
    3. XM_054319020.1XP_054174995.1  urea transporter 1 isoform X1

      UniProtKB/TrEMBL
      A0A7L9QHR7
    4. XM_054319025.1XP_054175000.1  urea transporter 1 isoform X5

      UniProtKB/TrEMBL
      B4DHU3
    5. XM_054319024.1XP_054174999.1  urea transporter 1 isoform X4

      UniProtKB/TrEMBL
      A0A2I6PCQ9
    6. XM_054319023.1XP_054174998.1  urea transporter 1 isoform X3

      UniProtKB/TrEMBL
      A0A2I6PCQ9