Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6563
Gene name	Solute carrier family 14 member 1 (Kidd blood group)
Gene symbol	SLC14A1
Synonyms (NCBI Gene)	HUT11HUT11AHsT1341JKJk(a)Jk(b)RACH1RACH2UT-B1UT1UTE
Chromosome	18
Chromosome location	18q12.3
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]

178

Show/Hide all (178)

miRTarBase ID	miRNA	Experiments	Reference
MIRT443546	hsa-miR-3613-3p	PAR-CLIP	22100165
MIRT443546	hsa-miR-3613-3p	PAR-CLIP	22100165
MIRT1352530	hsa-miR-1224-3p	CLIP-seq
MIRT1352531	hsa-miR-1256	CLIP-seq
MIRT1352532	hsa-miR-1260	CLIP-seq
MIRT1352533	hsa-miR-1260b	CLIP-seq
MIRT1352534	hsa-miR-1276	CLIP-seq
MIRT1352535	hsa-miR-1280	CLIP-seq
MIRT1352536	hsa-miR-150	CLIP-seq
MIRT1352537	hsa-miR-188-3p	CLIP-seq
MIRT1352538	hsa-miR-2052	CLIP-seq
MIRT1352539	hsa-miR-3125	CLIP-seq
MIRT1352540	hsa-miR-3148	CLIP-seq
MIRT1352541	hsa-miR-3156-3p	CLIP-seq
MIRT1352542	hsa-miR-3688-5p	CLIP-seq
MIRT1352543	hsa-miR-3916	CLIP-seq
MIRT1352544	hsa-miR-4269	CLIP-seq
MIRT1352545	hsa-miR-4311	CLIP-seq
MIRT1352546	hsa-miR-4438	CLIP-seq
MIRT1352547	hsa-miR-4446-5p	CLIP-seq
MIRT1352548	hsa-miR-4474-3p	CLIP-seq
MIRT1352549	hsa-miR-500a	CLIP-seq
MIRT1352550	hsa-miR-5095	CLIP-seq
MIRT1352551	hsa-miR-520d-5p	CLIP-seq
MIRT1352552	hsa-miR-524-5p	CLIP-seq
MIRT1352553	hsa-miR-562	CLIP-seq
MIRT1352554	hsa-miR-570	CLIP-seq
MIRT1352555	hsa-miR-583	CLIP-seq
MIRT1352556	hsa-miR-1343	CLIP-seq
MIRT1352557	hsa-miR-1913	CLIP-seq
MIRT1352538	hsa-miR-2052	CLIP-seq
MIRT1352558	hsa-miR-3120-3p	CLIP-seq
MIRT1352559	hsa-miR-324-3p	CLIP-seq
MIRT1352560	hsa-miR-3616-5p	CLIP-seq
MIRT1352561	hsa-miR-3646	CLIP-seq
MIRT1352562	hsa-miR-3647-5p	CLIP-seq
MIRT1352563	hsa-miR-3942-5p	CLIP-seq
MIRT1352564	hsa-miR-3978	CLIP-seq
MIRT1352565	hsa-miR-4703-5p	CLIP-seq
MIRT1352566	hsa-miR-4707-3p	CLIP-seq
MIRT1352567	hsa-miR-4795-5p	CLIP-seq
MIRT1352568	hsa-miR-498	CLIP-seq
MIRT1352569	hsa-miR-515-5p	CLIP-seq
MIRT1352570	hsa-miR-548a-5p	CLIP-seq
MIRT1352571	hsa-miR-548ab	CLIP-seq
MIRT1352572	hsa-miR-548ak	CLIP-seq
MIRT1352573	hsa-miR-548b-5p	CLIP-seq
MIRT1352574	hsa-miR-548c-5p	CLIP-seq
MIRT1352575	hsa-miR-548d-5p	CLIP-seq
MIRT1352576	hsa-miR-548h	CLIP-seq
MIRT1352577	hsa-miR-548i	CLIP-seq
MIRT1352578	hsa-miR-548j	CLIP-seq
MIRT1352579	hsa-miR-548w	CLIP-seq
MIRT1352580	hsa-miR-548y	CLIP-seq
MIRT1352581	hsa-miR-559	CLIP-seq
MIRT1352582	hsa-miR-573	CLIP-seq
MIRT1352583	hsa-miR-129-3p	CLIP-seq
MIRT1352558	hsa-miR-3120-3p	CLIP-seq
MIRT1352563	hsa-miR-3942-5p	CLIP-seq
MIRT1352584	hsa-miR-4690-3p	CLIP-seq
MIRT1352565	hsa-miR-4703-5p	CLIP-seq
MIRT1352585	hsa-miR-512-5p	CLIP-seq
MIRT1352569	hsa-miR-515-5p	CLIP-seq
MIRT1352556	hsa-miR-1343	CLIP-seq
MIRT1352586	hsa-miR-335	CLIP-seq
MIRT1352587	hsa-miR-3545-3p	CLIP-seq
MIRT1352588	hsa-miR-3622a-3p	CLIP-seq
MIRT1352589	hsa-miR-3622b-3p	CLIP-seq
MIRT1352590	hsa-miR-378g	CLIP-seq
MIRT1352591	hsa-miR-4437	CLIP-seq
MIRT1352592	hsa-miR-4635	CLIP-seq
MIRT1352593	hsa-miR-4674	CLIP-seq
MIRT1352594	hsa-miR-4680-5p	CLIP-seq
MIRT1352595	hsa-miR-499-3p	CLIP-seq
MIRT1352596	hsa-miR-499a-3p	CLIP-seq
MIRT1352597	hsa-miR-587	CLIP-seq
MIRT2104369	hsa-miR-1182	CLIP-seq
MIRT2104370	hsa-miR-1254	CLIP-seq
MIRT2104371	hsa-miR-1910	CLIP-seq
MIRT2104372	hsa-miR-193a-5p	CLIP-seq
MIRT2104373	hsa-miR-200b	CLIP-seq
MIRT2104374	hsa-miR-200c	CLIP-seq
MIRT2104375	hsa-miR-3116	CLIP-seq
MIRT2104376	hsa-miR-3135b	CLIP-seq
MIRT2104377	hsa-miR-3143	CLIP-seq
MIRT2104378	hsa-miR-377	CLIP-seq
MIRT2104379	hsa-miR-423-3p	CLIP-seq
MIRT1352544	hsa-miR-4269	CLIP-seq
MIRT2104380	hsa-miR-4287	CLIP-seq
MIRT2104381	hsa-miR-429	CLIP-seq
MIRT2104382	hsa-miR-431	CLIP-seq
MIRT2104383	hsa-miR-4421	CLIP-seq
MIRT1352546	hsa-miR-4438	CLIP-seq
MIRT2104384	hsa-miR-4469	CLIP-seq
MIRT2104385	hsa-miR-4496	CLIP-seq
MIRT2104386	hsa-miR-452	CLIP-seq
MIRT2104387	hsa-miR-4676-3p	CLIP-seq
MIRT2104388	hsa-miR-4685-3p	CLIP-seq
MIRT2104389	hsa-miR-4735-5p	CLIP-seq
MIRT2104390	hsa-miR-4775	CLIP-seq
MIRT2104391	hsa-miR-4794	CLIP-seq
MIRT1352550	hsa-miR-5095	CLIP-seq
MIRT2104392	hsa-miR-590-3p	CLIP-seq
MIRT2104393	hsa-miR-642a	CLIP-seq
MIRT2104394	hsa-miR-661	CLIP-seq
MIRT2328827	hsa-miR-122	CLIP-seq
MIRT1352556	hsa-miR-1343	CLIP-seq
MIRT2104371	hsa-miR-1910	CLIP-seq
MIRT2328828	hsa-miR-223	CLIP-seq
MIRT2328829	hsa-miR-3198	CLIP-seq
MIRT1352587	hsa-miR-3545-3p	CLIP-seq
MIRT2328830	hsa-miR-3663-5p	CLIP-seq
MIRT1352590	hsa-miR-378g	CLIP-seq
MIRT2104380	hsa-miR-4287	CLIP-seq
MIRT2328831	hsa-miR-4309	CLIP-seq
MIRT2104383	hsa-miR-4421	CLIP-seq
MIRT1352591	hsa-miR-4437	CLIP-seq
MIRT1352546	hsa-miR-4438	CLIP-seq
MIRT2104384	hsa-miR-4469	CLIP-seq
MIRT1352592	hsa-miR-4635	CLIP-seq
MIRT1352593	hsa-miR-4674	CLIP-seq
MIRT1352594	hsa-miR-4680-5p	CLIP-seq
MIRT2104388	hsa-miR-4685-3p	CLIP-seq
MIRT2328832	hsa-miR-4697-3p	CLIP-seq
MIRT2328833	hsa-miR-4713-5p	CLIP-seq
MIRT2328834	hsa-miR-4726-3p	CLIP-seq
MIRT1352568	hsa-miR-498	CLIP-seq
MIRT2328835	hsa-miR-501-5p	CLIP-seq
MIRT1352550	hsa-miR-5095	CLIP-seq
MIRT2328836	hsa-miR-622	CLIP-seq
MIRT2104393	hsa-miR-642a	CLIP-seq
MIRT2104394	hsa-miR-661	CLIP-seq
MIRT2104370	hsa-miR-1254	CLIP-seq
MIRT2459484	hsa-miR-129-5p	CLIP-seq
MIRT2104375	hsa-miR-3116	CLIP-seq
MIRT2459485	hsa-miR-3149	CLIP-seq
MIRT2459486	hsa-miR-3674	CLIP-seq
MIRT2459487	hsa-miR-3935	CLIP-seq
MIRT2104389	hsa-miR-4735-5p	CLIP-seq
MIRT2104390	hsa-miR-4775	CLIP-seq
MIRT2104391	hsa-miR-4794	CLIP-seq
MIRT2104392	hsa-miR-590-3p	CLIP-seq
MIRT2104394	hsa-miR-661	CLIP-seq
MIRT2328827	hsa-miR-122	CLIP-seq
MIRT2104370	hsa-miR-1254	CLIP-seq
MIRT2459484	hsa-miR-129-5p	CLIP-seq
MIRT2104375	hsa-miR-3116	CLIP-seq
MIRT2459485	hsa-miR-3149	CLIP-seq
MIRT2328829	hsa-miR-3198	CLIP-seq
MIRT2459486	hsa-miR-3674	CLIP-seq
MIRT2459487	hsa-miR-3935	CLIP-seq
MIRT1352544	hsa-miR-4269	CLIP-seq
MIRT2328831	hsa-miR-4309	CLIP-seq
MIRT1352546	hsa-miR-4438	CLIP-seq
MIRT2328834	hsa-miR-4726-3p	CLIP-seq
MIRT2104389	hsa-miR-4735-5p	CLIP-seq
MIRT2104390	hsa-miR-4775	CLIP-seq
MIRT2104391	hsa-miR-4794	CLIP-seq
MIRT1352550	hsa-miR-5095	CLIP-seq
MIRT2104392	hsa-miR-590-3p	CLIP-seq
MIRT2104394	hsa-miR-661	CLIP-seq
MIRT2104370	hsa-miR-1254	CLIP-seq
MIRT2459484	hsa-miR-129-5p	CLIP-seq
MIRT2690878	hsa-miR-1299	CLIP-seq
MIRT2104375	hsa-miR-3116	CLIP-seq
MIRT2459485	hsa-miR-3149	CLIP-seq
MIRT2459486	hsa-miR-3674	CLIP-seq
MIRT2459487	hsa-miR-3935	CLIP-seq
MIRT1352544	hsa-miR-4269	CLIP-seq
MIRT1352546	hsa-miR-4438	CLIP-seq
MIRT2104389	hsa-miR-4735-5p	CLIP-seq
MIRT2104390	hsa-miR-4775	CLIP-seq
MIRT2690879	hsa-miR-4782-5p	CLIP-seq
MIRT2104391	hsa-miR-4794	CLIP-seq
MIRT1352550	hsa-miR-5095	CLIP-seq
MIRT2690880	hsa-miR-516b	CLIP-seq
MIRT2104392	hsa-miR-590-3p	CLIP-seq
MIRT2104394	hsa-miR-661	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005372	Function	Water transmembrane transporter activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IDA	7797558, 10514515, 19865084
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	7797558, 7989337
GO:0006833	Process	Water transport	IEA
GO:0015204	Function	Urea transmembrane transporter activity	IDA	7797558, 7989337, 8997401, 10514515
GO:0015204	Function	Urea transmembrane transporter activity	IEA
GO:0015204	Function	Urea transmembrane transporter activity	TAS
GO:0015265	Function	Urea channel activity	IDA	19865084
GO:0015840	Process	Urea transport	IEA
GO:0015840	Process	Urea transport	TAS	7989337
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0055085	Process	Transmembrane transport	TAS
GO:0071918	Process	Urea transmembrane transport	IBA
GO:0071918	Process	Urea transmembrane transport	IDA	19865084
GO:0071918	Process	Urea transmembrane transport	IEA

MIM	HGNC	e!Ensembl
613868	10918	ENSG00000141469

Q13336

Protein name

Urea transporter 1 (Solute carrier family 14 member 1) (Urea transporter, erythrocyte)

Protein function

Mediates the transport of urea driven by a concentration gradient across the cell membrane of erythrocytes (PubMed:10514515, PubMed:7797558, PubMed:7989337, PubMed:8997401). Also mediates the transport of urea across the cell membrane of the ren

PDB

6QD5 , 8BLP , 8XDF

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03253	UT	59 → 354	Urea transporter	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in erythrocytes (at protein level) (PubMed:23219802). Expressed in spleen erythroblasts and tumoral kidney (PubMed:7989337). {ECO:0000269|PubMed:23219802, ECO:0000269|PubMed:7989337}.

Sequence

MEDSPTMVRVDSPTMVRGENQVSPCQGRRCFPKALGYVTGDMKELANQLKDKPVVLQFID
WILRGISQVVFVNNPVSGILILVGLLVQNPWWALTGWLGTVVSTLMALLLSQDRSLIASG
LYGYNATLVGVLMAVFSDKGDYFWWLLLPVCAMSMTCPIFSSALNSMLSKWDLPVFTLPF
NMALSMYLSATGHYNPFFPAKLVIPITTAPNISWSDLSALELLKSIPVGVGQIYGCDNPW
TGGIFLGAILLSSPLMCLHAAIGSLLGIAAGLSLSAPFEDIYFGLWGFNSSLACIAMGGM
FMALTWQTHLLALGCALFTAYLGVGMANFMAEVGLPACTWPFCLATLLFLIMTTKNSNIY
KMPLSKVTYPEENRIFYLQAKKRMVESPL

Sequence length

389

Interactions

View interactions

	Reactome
			Transport of bile salts and organic acids, metal ions and amine compounds

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Jk-null variant	Likely pathogenic; Pathogenic	rs78937798, rs77744921	RCV000019291 RCV000019292	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Jk-null variant, finnish type	Pathogenic	rs78242949	RCV000019293	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant lymphoma, large B-cell, diffuse	Likely pathogenic	rs78937798	RCV005887567	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLC14A1-related disorder	Likely pathogenic	rs760401643, rs78937798	RCV003422467 RCV003415719	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
altered red cell phenotype	Affects	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC, AUTOIMMUNE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE HEMOLYTIC ANEMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLOOD GROUP, KIDD SYSTEM	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDD BLOOD POLYMORPHISM Jk(a)/Jk(b)	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (31)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anemia, Hemolytic, Idiopathic Acquired	Anemia	CTD_human_DG	6427987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	29330014		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia	CTD_human_DG	6427987		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	21824976, 23754249, 25218484, 28503151, 28589430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	21750109, 21824976, 23754249, 25218484, 28503151, 28589430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	GWASCAT_DG	21750109, 21824976, 24163127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30393947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35955933	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cold Hemagglutinin Disease	Autoimmune hemolytic anemia	CTD_human_DG	6427987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	1868434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	31199035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	6117683		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	6416912, 6580815, 6951830, 9215669		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erythroblastosis, Fetal	Erythroblastosis Fetalis	BEFREE	9885013		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	29279852	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Autoimmune Hemolytic Anemia	Anemia	CTD_human_DG	6427987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	38077322	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30393947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22735730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	21750109, 21824976, 23754249, 25218484, 28503151, 28589430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	GWASDB_DG	21750109, 21824976, 24163127		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28503151, 28589430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	BEFREE	10369594, 9783700		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	29293364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	23597578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22735730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22735730	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36257969	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	30575218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	23597578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	21750109, 23754249, 29028944, 32703295	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC14A1 (solute carrier family 14 member 1 (Kidd blood group))