1. Gene
  2. SLC41A1 - solute carrier family 41 member 1 Gene

SLC41A1 - solute carrier family 41 member 1 Gene

中文名称:溶质载体家族 41 成员 1

种属: Homo sapiens

同用名: MgtE; NPHPL2

基因 ID: 254428 | 基因类型: protein coding

关于 SLC41A1

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:205,789,095-205,813,198 (from NCBI)

This gene has 4 transcripts (splice variants), 208 orthologues, 2 paralogues and is associated with 1 phenotype. Broad expression in heart (RPKM 55.1), testis (RPKM 27.0) and 20 other tissues.

功能概要

启用镁离子跨膜转运蛋白活性和镁:钠逆向转运蛋白活性。参与细胞镁离子稳态;细胞对镁离子的反应;和镁离子跨膜转运。位于基底外侧质膜。部分含蛋白质复合物。 [由基因组资源联盟提供,2022 年 4 月]

Enables magnesium ion transmembrane transporter activity and magnesium:sodium antiporter activity. Involved in cellular magnesium ion homeostasis; cellular response to magnesium ion; and magnesium ion transmembrane transport. Located in basolateral plasma membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]

SLC41A1 基因产物(1)

mRNA Protein Name
NM_173854.6 NP_776253.3 solute carrier family 41 member 1

SLC41A1 蛋白结构

MgtE

MgtE: Divalent cation transporter (139 - 270)

MgtE

MgtE: Divalent cation transporter (352 - 498)

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  • 200
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  • 400
  • 513 a.a.
蛋白主名 其他名称

solute carrier family 41 member 1

solute carrier family 41 (magnesium transporter), member 1

关联疾病

疾病名称 别名
Nephronophthisis-Like Nephropathy 2

NPHPL2

Nephronophthisis

Medullary Cystic Disease

Medullary Cystic Kidney

Nph

Nphp

Kidney Disease, Cystic, Medullary

Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia

XMEN

X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection And Neoplasia

X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia

Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection And Neoplasia

Cid Due To Magt1 Deficiency

Combined Immunodeficiency Due To Magt1 Deficiency

X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection An

X-Linked Magnesium Deficiency With Epstein-Barr Virus Infection And Neoplasia

Cystic Kidney Disease

Renal Cyst

Simple Renal Cyst

Kidney Cysts

Kidney Diseases, Cystic

Renal Cysts

Kidney Cyst

Cystic Kidney

Congenital Cystic Kidney Disease

Cystic Kidney Diseases

Bosniak 1 Cyst

Hypomagnesemia 1, Intestinal

Intestinal Hypomagnesemia 1

HOMG1

Hypomagnesemia With Secondary Hypocalcemia

Hsh

Hypomagnesemic Tetany

Intestinal Hypomagnesemia With Secondary Hypocalcemia

Homg

Hypomagnesemia Caused By Selective Magnesium Malabsorption

Hypomagnesemia Intestinal Type 1

Primary Hypomagnesemia With Secondary Hypocalcemia

Phsh

Hypomagnesemia, Intestinal, With Secondary Hypocalcemia

Familial Primary Hypomagnesemia With Hypocalcuria

Hypomagnesemia 1

Hypomagnesmic Tetany

Urofacial Syndrome 1

Urofacial Syndrome

Ochoa Syndrome

Hydronephrosis With Peculiar Facial Expression

Ufs

Inverted Smile And Occult Neuropathic Bladder

Partial Facial Palsy With Urinary Abnormalities

UFS1

Urofacial Ochoa'S Syndrome

Urofacial Syndrome Type 1

Facial Palsy, Partial, With Urinary Abnormalities

Hydronephrosis-Inverted Smile

Inverted Smile-Neurogenic Bladder

Hydronephrosis-Inverted Smile Syndrome

Inverted Smile-Neurogenic Bladder Syndrome

Partial Facial Palsy Partial With Urinary Abnormalities

Urologic Diseases

Primary Hypomagnesemia

Familial Primary Hypomagnesemia

Homg

Primary Familial Hypomagnesemia

Genetic Primary Hypomagnesemia

Hypomagnesemia 1, Intestinal

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

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
Bos taurus SLC41A1 VGNC VGNC:34873
Canis familiaris SLC41A1 VGNC VGNC:46412
Macaca mulatta SLC41A1 VGNC VGNC:77515
Rattus norvegicus SLC41A1 RGD RGD:1311397
Mus musculus SLC41A1 MGD MGI:2444823
Felis catus SLC41A1 VGNC VGNC:65368