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

Gene ID: 6563, updated on 7-Jun-2020

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
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(b); RACH1; RACH2; UT-B1; 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

Genomic context

See SLC14A1 in Genome Data Viewer
Location:
18q12.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (45724127..45752520)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (43304088..43332485)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 14 member 2 Neighboring gene uncharacterized LOC107985153 Neighboring gene uncharacterized LOC105372093 Neighboring gene uncharacterized LOC105372092 Neighboring gene sialic acid binding Ig like lectin 15 Neighboring gene ectopic P-granules autophagy protein 5 homolog Neighboring gene Sharpr-MPRA regulatory region 10800

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

NHGRI 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.
NHGRI GWA Catalog
European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene.
NHGRI GWA Catalog
Genome-wide association study identifies multiple loci associated with bladder cancer risk.
NHGRI GWA 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

Homology

Clone Names

  • FLJ33745, FLJ41687

Gene Ontology Provided by GOA

Function Evidence Code Pubs
urea channel activity IDA
Inferred from Direct Assay
more info
PubMed 
water transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
transmembrane transport TAS
Traceable Author Statement
more info
 
urea transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
urea transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
urea transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
water transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
urea transporter 1
Names
Kidd blood group
Kidd blood group antigen
SLC14A1 JK
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)

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)

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/Swiss-Prot
    Q13336
    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
    Q13336
    UniProtKB/TrEMBL
    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/Swiss-Prot
    Q13336
    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
    B4DFJ8
    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
    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
    Q13336
    UniProtKB/TrEMBL
    G0W2N5
    Related
    ENSP00000318546.4, ENST00000321925.9
    Conserved Domains (1) summary
    pfam03253
    Location:59354
    UT; Urea transporter

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    45724127..45752520
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for XP_006722589.1

    Conserved Domains (1) summary
    pfam03253
    Location:94389
    UT; Urea transporter
  2. XM_024451238.1XP_024307006.1  urea transporter 1 isoform X4

    Conserved Domains (1) summary
    pfam03253
    Location:59331
    UT; Urea transporter
  3. XM_005258329.1XP_005258386.1  urea transporter 1 isoform X2

    Conserved Domains (1) summary
    pfam03253
    Location:115387
    UT; Urea transporter
  4. XM_011526144.1XP_011524446.1  urea transporter 1 isoform X3

    Conserved Domains (1) summary
    pfam03253
    Location:115371
    UT; Urea transporter
  5. XM_005258333.1XP_005258390.1  urea transporter 1 isoform X5

    See identical proteins and their annotated locations for XP_005258390.1

    UniProtKB/TrEMBL
    F5GWS2
    Related
    ENSP00000466273.3, ENST00000589322.7
    Conserved Domains (1) summary
    pfam03253
    Location:1222
    UT; Urea transporter
  6. XM_011526142.1XP_011524444.1  urea transporter 1 isoform X1

    See identical proteins and their annotated locations for XP_011524444.1

    Conserved Domains (1) summary
    pfam03253
    Location:94389
    UT; Urea transporter

RNA

  1. XR_001753266.1 RNA Sequence

    Related
    ENST00000619403.4
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