1. Gene
  2. SLC22A12 - solute carrier family 22 member 12 Gene

SLC22A12 - solute carrier family 22 member 12 Gene

中文名称:溶质载体家族 22 成员 12

种属: Homo sapiens

同用名: RST; OAT4L; URAT1

基因 ID: 116085 | 基因类型: protein coding

关于 SLC22A12

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:64,591,220-64,602,344 (from NCBI)

This gene has 5 transcripts (splice variants), 475 orthologues, 22 paralogues and is associated with 2 phenotypes. Restricted expression toward kidney (RPKM 60.9).

功能概要

该基因编码的蛋白质是有机阴离子转运蛋白 (OAT) 家族的成员,它作为尿酸盐转运蛋白来调节血液中的尿酸盐水平。这种蛋白质是一种完整的膜蛋白,主要存在于肾脏近端小管的上皮细胞中。血清尿酸盐水平升高、高尿酸血症与痛风发病率增加有关,并且该基因的突变会导致 1 型肾性低尿酸血症。可变剪接导致多种转录本变异。[RefSeq 提供,2013 年 1 月]

The protein encoded by this gene is a member of the organic anion transporter (OAT) family, and it acts as a urate transporter to regulate urate levels in blood. This protein is an integral membrane protein primarily found in epithelial cells of the proximal tubule of the kidney. An elevated level of serum urate, hyperuricemia, is associated with increased incidences of gout, and mutations in this gene cause renal hypouricemia type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

SLC22A12 基因产物(6)

mRNA Protein Name
XM_006718431.5 XP_006718494.1 solute carrier family 22 member 12 isoform X2
NM_144585.4 NP_653186.2 solute carrier family 22 member 12 isoform a
NM_001276326.2 NP_001263255.1 solute carrier family 22 member 12 isoform c
NM_153378.3 NP_700357.1 solute carrier family 22 member 12 isoform b
NM_001276327.2 NP_001263256.1 solute carrier family 22 member 12 isoform d
XM_006718430.5 XP_006718493.1 solute carrier family 22 member 12 isoform X1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables PDZ domain binding IPI
IPI: 通过物理相互作用推断
15304510 GOA
enables urate transmembrane transporter activity IDA
IDA: 通过直接分析推断
12024214 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in response to xenobiotic stimulus IDA
IDA: 通过直接分析推断
12024214 GOA
involved in urate metabolic process IMP
IMP: 通过突变表型推断
19503597 GOA
involved in urate transport IDA
IDA: 通过直接分析推断
12024214 GOA
involved in urate transport IMP
IMP: 通过突变表型推断
22194875 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in apical plasma membrane IDA
IDA: 通过直接分析推断
12024214 GOA
located in membrane IDA
IDA: 通过直接分析推断
12024214 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
14694169 GOA
located in plasma membrane IMP
IMP: 通过突变表型推断
22194875 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SLC22A12 蛋白结构

MFS_1

MFS_1: Major Facilitator Superfamily (142 - 484)

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  • 553 a.a.
蛋白主名 其他名称

solute carrier family 22 member 12

organic anion transporter 4-like protein

renal-specific transporter

solute carrier family 22 (organic anion/cation transporter), member 12

solute carrier family 22 (organic anion/urate transporter), member 12

urate anion exchanger 1

urate transporter 1

关联疾病

疾病名称 别名
Fanconi Syndrome

Infantile Nephropathic Cystinosis

Adult Fanconi Syndrome

Congenital Fanconi Syndrome

De Toni-Fanconi Syndrome

Fanconi-De Toni Syndrome

Lignac-Fanconi Syndrome

Fanconi Renotubular Syndrome

Primary Fanconi Renotubular Syndrome

De Toni-Debre-Fanconi Syndrome

Adult Fanconi Anemia

Detoni Fanconi Syndrome

Fanconi-De-Toni Syndrome

Primary Fanconi Syndrome

Detoni-Debre-Fanconi Syndrome

Primary Fanconi Renal Syndrome

Fanconi Anemia

Cystinosis, Infantile Nephropathic

Fanconi-Bickel Syndrome

Renal Fanconi Syndrome

Lowe-Bickel Syndrome

Kidney Cortex Disease
Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

Hypouricemia, Renal, 1

Dalmatian Hypouricemia

Renal Hypouricemia

Hypouricemia, Renal

RHUC1

Familial Renal Hypouricemia

Hereditary Renal Hypouricemia

Familial Renal Hypouricaemia

Rhuc

Hypouricemia Renal 1

Hypouricemia, Renal, Type 1

Purine-Pyrimidine Metabolic Disorder

Inborn Errors Of Purine-Pyrimidine Metabolism

Disorder Of Purine Or Pyrimidine Metabolism

Kidney Cortex Necrosis

Renal Cortical Necrosis

Gout

Gouty Arthritis

Articular Gout

Gouty Arthropathy

Arthritis, Gouty

Arthritis Gouty

Idiopathic Gout

Idiopathic Gout, Unspecified Site

Gouty Bursitis

Uratic Arthritis

Gout Nos

Gouty

Gouty Diathesis

Tubulointerstitial Kidney Disease, Autosomal Dominant, 1

Mckd2

Familial Juvenile Hyperuricemic Nephropathy

Familial Juvenile Hyperuricemic Nephropathy Type 1

Fjhn

Medullary Cystic Kidney Disease 2

Uromodulin-Associated Kidney Disease

Medullary Cystic Kidney Disease Type 2

ADTKD1

Hnfj1

Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria

Adtkd-Umod

Familial Juvenile Hyperuricemic Nephropathy 1

Umod-Related Adtkd

Umod-Related Autosomal Dominant Tubulointerstitial Kidney Disease

Hyperuricemic Nephropathy, Familial Juvenile, 1

Gouty Nephropathy, Familial Juvenile

Medullary Cystic Kidney Disease 2, Autosomal Dominant

Admckd2

Autosomal Dominant Tubulointerstitial Kidney Disease Due To Umod Mutations

Adtkd Due To Umod Mutations

Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related

Autosomal Dominant Medullary Cystic Kidney Disease Type 2

Umod-Associated Kidney Disease

Uromodulin Kidney Disease

Familial Gout-Kidney Disease

Familial Gouty Nephropathy

Umak

Umod-Related Kidney Disease

Uromodulin Storage Disease

Fjhn1

Gouty Nephropathy Familial Juvenile

Nephropathy Familial With Gout

Hyperuricemic Nephropathy, Familial Juvenile 1

Hyperuricemic Nephropathy, Familial Juvenile

Kidney Disease, Glomerulocystic, With Hyperuricemia And Isosthenuria

Nephropathy, Hyperuricemic, Juvenile, Familial, Type 1

Kidney Disease, Cystic, Medullary, Type 2

Medullary Cystic Kidney Disease Type Ii

Familial Juvenile Gout

Nephrolithiasis, Uric Acid

Nephrolithiasis, Uric Acid, Susceptibility To

Uric Acid Urolithiasis

Uric Acid Nephrolithiasis

UAN

Acute Urate Nephropathy

Urolithiasis, Uric Acid

Urolithiasis, Uric Acid, Susceptibility To

Uric Acid Renal Calculus

Xanthinuria

Xanthine Dehydrogenase Deficiency

Xanthine Oxidase Deficiency

Hereditary Xanthinuria

Xanthic Urolithiasis

Xanthine Stone Disease

Xanthinuria, Type I

Combined Deficiency Of Xanthine Dehydrogenase And Aldehyde Oxidase

Xdh Deficiency

Classic Xanthinuria

Xanthinuria, Type Ii

Classical Xanthinuria

Xanthine Calculus

Hyperuricemia, Hprt-Related

Hprt-Related Gout

Kelley-Seegmiller Syndrome

Hprt Deficiency, Partial

HRH

Gout, Hprt-Related

Hprt1 Deficiency, Partial

Hrpt-Related Hyperuricemia

Hprt Deficiency, Grade I

Hprt Partial Deficiency

Hprt-Related Hyperuricemia

Hprt1 Partial Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase 1 Partial Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade I

Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency

Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial

Hyperuricemia, Hrpt-Related

Alzheimer Disease 17

AD17

Alzheimer'S Disease 17

Alzheimer Disease 17, Late-Onset

Alzheimer Disease 17, Late Onset

Acute Kidney Failure

Acute Renal Failure

Renal Failure Acute

Acute Kidney Injury

Kidney Failure, Acute

Pre-Renal Acute Kidney Injury

Nontraumatic Acute Kidney Injury

Aki - [Acute Kidney Injury]

Arf - [Acute Kidney Failure]

Acute Kidney Disease

Acute Kidney Impairment

Acute Ischaemic Renal Failure

Acute Hypoxic Kidney Failure

Acute Kidney Shutdown

Acute Renal Oedema

Acute Renal Impairment

Acute Kidney Collapse

Acute Necrotising Kidney

Acute Renal Suppression

Nephrolithiasis

Kidney Stones

Stone - Kidney/Ureter

Kidney Calculi

Lesch-Nyhan Syndrome

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

LNS

Hprt Deficiency

Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase Deficiency

X-Linked Hyperuricemia

Choreoathetosis Self-Mutilation Syndrome

Hprt1 Deficiency

Hprt Deficiency, Complete

Deficiency Of Imp Pyrophosphorylase

Hgprt Deficiency

Lesch-Nyhan Disease

Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency

Hg-Prt Deficiency

Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency

Lesch - Nyhan Syndrome

Hprt1 Disorders

Lesch Nyhan Syndrome

Complete Hprt Deficiency Complete

Lesch Nyhan Disease

Complete Hprt Deficiency

Deficiency Of Guanine Phosphoribosyltransferase

Deficiency Of Hypoxanthine Phosphoribosyltransferase

Hypoxanthine Phosphoribosyltransferase Deficiency

Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome

Juvenile Hyperuricemia Syndrome

Lnd

Primary Hyperuricemia Syndrome

Total Hprt Deficiency

Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency

X-Linked Primary Hyperuricemia

X-Linked Uric Aciduria Enzyme Defect

Hprt Complete Deficiency

Hprt Deficiency Grade Iv

Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency

Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv

Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency

Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency

Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency

Lower Urinary Tract Calculus

Calculus Of Lower Urinary Tract

Hyperuricemia

Blood Urate Raized

Uricacidemia

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus SLC22A12 RGD RGD:621628
Mus musculus SLC22A12 MGD MGI:1195269
Bos taurus SLC22A12 VGNC VGNC:56280
Macaca mulatta SLC22A12 VGNC VGNC:77501
Felis catus SLC22A12 VGNC VGNC:65239
Canis familiaris SLC22A12 VGNC VGNC:46273
Others SLC22A12 NCBI