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NIPAL4 NIPA like domain containing 4 [ Homo sapiens (human) ]

Gene ID: 348938, updated on 7-Jun-2020

Summary

Official Symbol
NIPAL4provided by HGNC
Official Full Name
NIPA like domain containing 4provided by HGNC
Primary source
HGNC:HGNC:28018
See related
Ensembl:ENSG00000172548 MIM:609383
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ARCI6; ICHYN; ICHTHYIN
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]
Expression
Biased expression in skin (RPKM 16.9), esophagus (RPKM 5.1) and 4 other tissues See more
Orthologs

Genomic context

See NIPAL4 in Genome Data Viewer
Location:
5q33.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (157460019..157474722)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (156887027..156901730)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene cytoplasmic FMR1 interacting protein 2 Neighboring gene uncharacterized LOC102724404 Neighboring gene fibronectin type III domain containing 9 Neighboring gene ribosomal protein L26 pseudogene 18 Neighboring gene ADAM metallopeptidase domain 19 Neighboring gene RNA, U6 small nuclear 390, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
magnesium ion transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
magnesium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
magnesium ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
magnesium transporter NIPA4
Names
NIPA-like protein 4
non-imprinted in Prader-Willi/Angelman syndrome region protein 4

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016626.1 RefSeqGene

    Range
    5001..19704
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001099287.2NP_001092757.2  magnesium transporter NIPA4 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC008676
    Consensus CDS
    CCDS47328.1
    Related
    ENSP00000311687.7, ENST00000311946.7
  2. NM_001172292.1NP_001165763.1  magnesium transporter NIPA4 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AC008676, AF131815, AK026158, AK296972
    Consensus CDS
    CCDS54944.1
    UniProtKB/Swiss-Prot
    Q0D2K0
    Related
    ENSP00000406456.2, ENST00000435489.6
    Conserved Domains (2) summary
    COG0697
    Location:118219
    RhaT; Permease of the drug/metabolite transporter (DMT) superfamily [Carbohydrate transport and metabolism, Amino acid transport and metabolism, General function prediction only]
    cl23754
    Location:116391
    EamA; EamA-like transporter family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    157460019..157474722
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534552.1XP_011532854.1  magnesium transporter NIPA4 isoform X1

    See identical proteins and their annotated locations for XP_011532854.1

    Conserved Domains (1) summary
    cl23754
    Location:1245
    EamA; EamA-like transporter family
  2. XM_024446043.1XP_024301811.1  magnesium transporter NIPA4 isoform X2

    Conserved Domains (1) summary
    cl23754
    Location:1177
    EamA; EamA-like transporter family
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