NIPAL4 - NIPA like domain containing 4 Gene

Also Known as ARCI6; ICHYN; SLC57A6; ICHTHYIN

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 348938

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NIPAL4 Protein Structure

Mg_trans_NIPA

0
100
200
300
400
466 a.a.

Protein Preferred Names	Protein Names
magnesium transporter NIPA4	NIPA-like protein 4

NIPAL4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09304	NIPAL4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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