1. Gene
  2. NIPAL4 - NIPA like domain containing 4 Gene

NIPAL4 - NIPA like domain containing 4 Gene

中文名称:含 NIPA 样域 4

种属: Homo sapiens

同用名: ARCI6; ICHYN; SLC57A6; ICHTHYIN

基因 ID: 348938 | 基因类型: protein coding

关于 NIPAL4

Cytogenetic location: 5q33.3 Genomic coordinates (GRCh38): 5:157,460,019-157,474,722 (from NCBI)

This gene has 5 transcripts (splice variants), 215 orthologues, 5 paralogues and is associated with 4 phenotypes. Biased expression in skin (RPKM 16.9), esophagus (RPKM 5.1) and 4 other tissues.

功能概要

该基因可能编码膜受体。该基因的突变与常染色体隐性先天性鱼鳞病有关。[RefSeq 提供,2010 年 2 月]

This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010]

NIPAL4 基因产物(2)

mRNA Protein Name
NM_001099287.2 NP_001092757.2 magnesium transporter NIPA4 isoform 1
NM_001172292.2 NP_001165763.2 magnesium transporter NIPA4 isoform 2
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 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

NIPAL4 蛋白结构

Mg_trans_NIPA

Mg_trans_NIPA: Magnesium transporter NIPA (115 - 412)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 466 a.a.
蛋白主名 其他名称

magnesium transporter NIPA4

NIPA-like protein 4

NIPAL4 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra NIPAL4 Q0D2K0 IL10RA Homo sapiens Q13651
Y2H Prey Pooling
32296183
Intra NIPAL4 Q0D2K0 IL10RA Homo sapiens Q13651
Validated Y2H
32296183
Intra NIPAL4 Q0D2K0 IL10RA Homo sapiens Q13651
Y2H Array
32296183
Intra NIPAL4 Q0D2K0 GPR152 Homo sapiens Q8TDT2
Validated Y2H
32296183
Intra NIPAL4 Q0D2K0 GPR152 Homo sapiens Q8TDT2
Y2H Array
32296183
Intra NIPAL4 Q0D2K0 GPR152 Homo sapiens Q8TDT2
Y2H Prey Pooling
32296183
Intra NIPAL4 Q0D2K0 TM4SF18 Homo sapiens Q96CE8
Y2H Array
32296183
Intra NIPAL4 Q0D2K0 TM4SF18 Homo sapiens Q96CE8
Y2H Prey Pooling
32296183
Intra NIPAL4 Q0D2K0 TM4SF18 Homo sapiens Q96CE8
Validated Y2H
32296183
Intra NIPAL4 Q0D2K0 ACKR2 Homo sapiens O00590
Y2H Prey Pooling
32296183
Intra NIPAL4 Q0D2K0 ACKR2 Homo sapiens O00590
Y2H Array
32296183
Intra NIPAL4 Q0D2K0 GJB1 Homo sapiens P08034
Y2H Prey Pooling
32296183
Intra NIPAL4 Q0D2K0 GJB1 Homo sapiens P08034
Y2H Array
32296183
Intra NIPAL4 Q0D2K0 TRHR Homo sapiens P34981
Y2H Prey Pooling
32296183
Intra NIPAL4 Q0D2K0 TRHR Homo sapiens P34981
Y2H Array
32296183
Intra NIPAL4 Q0D2K0 CMTM2 Homo sapiens Q8TAZ6
Validated Y2H
32296183
Intra NIPAL4 Q0D2K0 CMTM2 Homo sapiens Q8TAZ6
Y2H Prey Pooling
32296183
Intra NIPAL4 Q0D2K0 CMTM2 Homo sapiens Q8TAZ6
Y2H Array
32296183
Intra NIPAL4 Q0D2K0 RNF185 Homo sapiens Q96GF1
Y2H Array
32296183
Intra NIPAL4 Q0D2K0 RNF185 Homo sapiens Q96GF1
Validated Y2H
32296183
Intra NIPAL4 Q0D2K0 RNF185 Homo sapiens Q96GF1
Y2H Prey Pooling
32296183
Intra NIPAL4 Q0D2K0 RNF19B Homo sapiens Q6ZMZ0
Y2H Prey Pooling
32296183
Intra NIPAL4 Q0D2K0 RNF19B Homo sapiens Q6ZMZ0
Validated Y2H
32296183
Intra NIPAL4 Q0D2K0 RNF19B Homo sapiens Q6ZMZ0
Y2H Array
32296183
Intra NIPAL4 Q0D2K0 LHFPL5 Homo sapiens Q8TAF8
Y2H Array
32296183
Intra NIPAL4 Q0D2K0 LHFPL5 Homo sapiens Q8TAF8
Validated Y2H
32296183
Intra NIPAL4 Q0D2K0 LHFPL5 Homo sapiens Q8TAF8
Y2H Prey Pooling
32296183
Intra NIPAL4 Q0D2K0 FFAR2 Homo sapiens O15552
Y2H Array
32296183
Intra NIPAL4 Q0D2K0 FFAR2 Homo sapiens O15552
Y2H Prey Pooling
32296183
Intra NIPAL4 Q0D2K0 HHLA2 Homo sapiens Q9UM44
Y2H Array
32296183
Intra NIPAL4 Q0D2K0 HHLA2 Homo sapiens Q9UM44
Y2H Prey Pooling
32296183
Intra NIPAL4 Q0D2K0 HHLA2 Homo sapiens Q9UM44
Validated Y2H
32296183
Intra NIPAL4 Q0D2K0 COMT Homo sapiens P21964
Y2H Prey Pooling
32296183
Intra NIPAL4 Q0D2K0 COMT Homo sapiens P21964
Y2H Array
32296183
Intra NIPAL4 Q0D2K0 CLDN7 Homo sapiens O95471
Y2H Prey Pooling
32296183
Intra NIPAL4 Q0D2K0 CLDN7 Homo sapiens O95471
Y2H Array
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Ichthyosis, Congenital, Autosomal Recessive 6

Autosomal Recessive Congenital Ichthyosis 6

ARCI6

Ichthyosis, Congenital, Autosomal Recessive, Nipal4-Related

Ichthyosis, Congenital, Autosomal Recessive, Ichthyin-Related

Ichthyosis Congenital Autosomal Recessive

Ichthyosis, Congenital, Autosomal Recessive, Type 6

Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis

Congenital Ichthyosiform Erythroderma

Li

Congenital Nonbullous Ichthyosiform Erythroderma

Arci

Congenital Lamellar Ichthyosis

Nonbullous Congenital Ichthyosiform Erythroderma

Cie

Congenital Non-Bullous Ichthyosiform Erythroderma

Erythrodermic Ichthyosis

Nbcie

Ncie

Non-Bullous Congenital Ichthyosiform Erythroderma

Collodion Baby

Ichthyosis, Lamellar

Non Bullous Congenital Ichthyosiform Erythroderma

Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form

Ichthyosiform Erythroderma, Congenital, Nonbullous, 1

Collodion Baby Syndrome

Ichthyoses, Lamellar

Nbie

Nonbullous Ichthyosiform Erythroderma

Classic Lamellar Ichthyosis

Ichthyosiform Erythroderma Nonbullous Congenital

Ichthyosiform Erythroderma Congenital

Ichthyosis, Congenital, Autosomal Recessive

Ichthyosiform Erythroderma, Congenital

Collodion Fetus

Non-Bullous Ichthyosiform Erythroderma

Erythrokeratodermia Variabilis Et Progressiva 1

Erythrokeratodermia Variabilis

Erythrokeratodermia Variabilis Et Progressiva

Greither Disease

Ekv

Ekvp

PSEK

Erythrokeratodermia Variabilis With Erythema Gyratum Repens

Keratosis Palmoplantaris Transgrediens Et Progrediens

Transgrediens Et Progrediens Palmoplantar Keratoderma

EKVP1

Erythrokeratodermia, Progressive Symmetric

Erythrokeratodermia Figurata, Congenital Familial, In Plaques

Keratoderma Palmoplantaris Transgrediens

Keratosis Extremitatum Hereditaria Progrediens

Erythrokeratodermia Variabilis, Mendes Da Costa Type

Progressive Symmetric Erythrokeratodermia

Erythrokeratodermia Figurata Variabilis

Greither'S Disease

Ekv-P

Erythrokeratodermia Variabilis Of Mendes Da Costa

Progressive Symmetrical Erythrokeratoderma Of Gottron

Progressive Diffuse Ppk

Progressive Diffuse Palmoplantar Keratoderma

Transgrediens Et Progrediens Ppk

Darier-Gottron Disease

Erythrokeratodermia Progressiva Symmetrica

Progressive Symmetric Erythrokeratodermia, Gottron Type

Congenital Familial Erythrokeratodermia Figurata In Plaques

Erythrokeratodermia Progressive Symmetric

Erythrokeratodermia Variabilis Mendes Da Costa Type

Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis

Ichthyosis, Congenital, Autosomal Recessive 7

ARCI7

Autosomal Recessive Congenital Ichthyosis 7

Ichthyosis, Congenital, Autosomal Recessive 1

Collodion Fetus

Autosomal Recessive Congenital Ichthyosis 1

ARCI1

Ichthyosis Congenita

Lamellar Exfoliation Of Newborn

Desquamation Of Newborn

Ichthyosis Congenita Ii

Shcb

Icr2

Bathing Suit Ichthyosis

Li1

Self-Healing Collodion Baby

Ichthyosis, Congenital, Autosomal Recessive 1, With Bathing Suit Distribution

Collodion Baby, Self-Healing

Ichthyosis, Lamellar, 1, Formerly

Li1, Formerly

Ichthyosis Lamellar 1

Lamellar Ichthyosis, Type 1

Bsi

Autosomal Recessive Congenital Ichthyosis 1 With Bathing Suit Distribution

Autosomal Recessive Congenital Ichthyosis Tgm1-Related

Lamellar Ichthyosis 1

Non-Erythrodermic Ichthyosis

Ichthyosis, Congenital, Autosomal Recessive, Type 1

Congenital Ichthyosis

Ichthyosis, Congenital, Autosomal Recessive 4b

Harlequin Ichthyosis

Autosomal Recessive Congenital Ichthyosis 4b

Hi

Harlequin Fetus

ARCI4B

Ichthyosis Congenita, Harlequin Fetus Type

Harlequin Type Ichthyosis

'Harlequin Fetus'

Harlequin Type Ichthyosis Congenita

Harlequin Type Ichthyosis Fetalis

Harlequin Baby Syndrome

Ichthyosis Congenita, Harlequin Type

Ichthyosis Fetalis, Harlequin Type

Ichthyosis Congenita Harlequin Fetus Type

Ichthyosis, Harlequin

Ichthyosis, Congenital, Autosomal Recessive, Type 4b

Ainhum

Dactylolysis Spontanea

Spontaneous Dactylolysis

Eyelid Disease

Eyelid Diseases

Eyelid Disorders

Acrokeratosis Verruciformis

Acrokeratosis Verruciformis Of Hopf

Hopf Disease

AKV

Akv Of Hopf

Ichthyosis, Congenital, Autosomal Recessive 4a

Ichthyosis Congenita Iib

Icr2b

Autosomal Recessive Congenital Ichthyosis 4a

ARCI4A

Lamellar Ichthyosis 2

Li2

Ichthyosis, Lamellar, 2, Formerly

Li2, Formerly

Ichthyosis Lamellar 2

Lamellar Ichthyosis, Type 2

Ichthyosis, Lamellar 2

Ichthyosis, Congenital, Autosomal Recessive, Type 4a

Epidermolytic Hyperkeratosis

Bullous Congenital Ichthyosiform Erythroderma

Bullous Ichthyosiform Erythroderma

EHK

Bullous Erythroderma Ichthyosiformis Congenita Of Brocq

Bcie

Bie

Epidermolytic Ichthyosis

Ichthyosis Bullosa Of Siemens

Superficial Epidermolytic Ichthyosis

Hyperkeratosis, Epidermolytic

Congenital Bullous Ichthyosiform Erythroderma

Bullous Type Ichthyosis

Epidermolytic Palmoplantar Hyperkeratosis

Bullous Ichthyosiform Erythroderma Congenita

Bullous Erythroderma Ichthyosiforme

Sei

Epidermolytic Hyperkeratosis Late-Onset

Epidermolytic Hyperkeratosis, Late-Onset

Ectropion

Ectropion Of Eyelid

Everted Margin

Eversion Of The Eyelid

Eyelashes Turned Out

Eyelid Everted

Eyelid Turned Out

Unspecified Ectropion Of Unspecified Eye

Verruciform Xanthoma Of Skin

Verruciform Xanthoma

Cutaneous Verruciform Xanthoma

Ichthyosis, X-Linked

X-Linked Ichthyosis

Steroid Sulfatase Deficiency

Placental Steroid Sulfatase Deficiency

Steroid Sulfatase Deficiency Disease

XLI

Sts Deficiency

Ssdd

X-Linked Recessive Ichthyosis

X-Linked Ichthyosis With Steryl-Sulphatase Deficiency

X-Linked Placental Steryl-Sulphatase Deficiency

Ssd

X Linked Ichthyosis

Recessive X-Linked Ichthyosis

Rxli

Syndromic Recessive X-Linked Ichthyosis

Recessive X-Linked Ichthyosis With Extracutaneous Manifestations

Syndromic Rxli

X-Linked Ichthyosis Syndrome

IXL

Ichthyosis X-Linked

Sex-Linked Ichthyosis

X-Linked Ichthyosis With Steryl-Sulfatase Deficiency

Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects

Child Syndrome

Ichthyosiform Erythroderma, Unilateral, With Ipsilateral Malformations, Especially Absence Deformity Of Limbs

Child Nevus

Congenital Hemidysplasia With Ichthyosiform Nevus And Limbs Defects

Congenital Hemidysplasia With Ichthyosiform Nevus And Limb Defects

Ichthyosis, Child Syndrome

Child Syndrome Ichthyosis

CHILD

X-Linked Chondrodysplasia Punctata 2

Happle Syndrome

Cdpx2

Conradi-Hünermann Syndrome

Chondrodysplasia Punctata 2, X-Linked

X-Linked Dominant Chondrodysplasia Punctata

Conradi-Hunermann Syndrome

Conradi-Hünermann-Happle Syndrome

Cdpxd

Cpxd

Chondrodystrophia Calcificans Congenita

Conradi-Hunermann-Happle Syndrome

X-Linked Chondrodysplasia Punctata Type 2

Chondrodysplasia Punctata, X-Linked Dominant Type

Ichthyosis, Congenital, Autosomal Recessive 2

Autosomal Recessive Congenital Ichthyosis 2

ARCI2

Ncie1

Ichthyosiform Erythroderma, Congenital

Collodion Baby, Self-Healing

Ichthyosiform Erythroderma, Nonbullous Congenital, 1, Formerly

Ncie1, Formerly

Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form, Formerly

Brocq Congenital Ichthyosiform Erythroderma Nonbullous Form

Nonbullous Congenital Ichthyosiform Erythroderma 1

Cie

Ichthyosiform Erythroderma Brocq Congenital Non-Bullous Form

Iecn1

Non-Bullous Congenital Ichthyosiform Erythroderma Type 1

Self-Healing Collodion Baby

Ichthyosis, Congenital, Autosomal Recessive, Type 2

Ichthyosiform Erythroderma, Congenital, Nonbullous, 1

Ichthyosis Vulgaris

Ichthyosis Simplex

Dominant Congenital Ichthyosiform Erythroderma

Common Ichthyosis

Fish Scale Disease

VI

Ichthyoses

Congenital Ichthyosis

Angelman Syndrome

AS

Happy Puppet Syndrome

Happy Puppet Syndrome, Formerly

Puppetlike Syndrome

Cicatricial Ectropion
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 NIPAL4 RGD RGD:1309452
Felis catus NIPAL4 VGNC VGNC:102267
Bos taurus NIPAL4 VGNC VGNC:32084
Macaca mulatta NIPAL4 VGNC VGNC:75267
Canis familiaris NIPAL4 VGNC VGNC:43818
Mus musculus NIPAL4 MGD MGI:2444671