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

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: mouse all
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Genomic context

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_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SLC14A1 and TGF-beta signaling: a feedback loop driving EMT and colorectal cancer metachronous liver metastasis.
Title: SLC14A1 and TGF-β signaling: a feedback loop driving EMT and colorectal cancer metachronous liver metastasis.
Down-regulation of SLC14A1 in prostate cancer activates CDK1/CCNB1 and mTOR pathways and promotes tumor progression.
Title: Down-regulation of SLC14A1 in prostate cancer activates CDK1/CCNB1 and mTOR pathways and promotes tumor progression.
SLC14A1 is a new biomarker in renal cancer.
Title: SLC14A1 is a new biomarker in renal cancer.
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.
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.
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.
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.
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.
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).
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.

Submit: New GeneRIF Correction See all GeneRIFs (40)

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	not available

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

G54655 (e-PCR)
- UniSTS:117760

NoName (e-PCR)
- UniSTS:9484

G59635 (e-PCR)
- UniSTS:136791

SHGC-32575 (e-PCR)
- UniSTS:17569

RH16293 (e-PCR)
- UniSTS:67029

SHGC-143656 (e-PCR)
- UniSTS:172001

D18S899E (e-PCR)
- UniSTS:150510

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

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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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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

NG_011775.4 RefSeqGene

Range

42157..70496

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_802

mRNA and Protein(s)

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
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
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
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
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
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