U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 348938, updated on 4-Dec-2023

    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; AllianceGenome:HGNC:28018
    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; NIPA4; SLC57A6; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NIPAL4 in Genome Data Viewer
    Location:
    5q33.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (157460213..157474722)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (157979233..157993740)
    105.20220307 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 ReSE screen-validated silencer GRCh37_chr5:156789204-156789414 Neighboring gene fibronectin type III domain containing 9 Neighboring gene NIPAL4 divergent transcript Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:156817055-156818254 Neighboring gene ribosomal protein L26 pseudogene 18 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16559 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:156905935-156906445 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:156913469-156913969 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:156923503-156924004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23512 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23513 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23514 Neighboring gene ADAM metallopeptidase domain 19 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:156951101-156951600 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23517 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23519 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23521 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23522 Neighboring gene Sharpr-MPRA regulatory region 5046 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:157001479-157002008 Neighboring gene uncharacterized LOC124901121 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23524 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16561 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:157004182-157004797 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:157004798-157005414 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:157005415-157006029 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables magnesium ion transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in magnesium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in magnesium ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    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)

    NEW Try the new Transcript table

    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
      5195..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
      CCDS47328.2
      UniProtKB/Swiss-Prot
      A8S6F1, A8S6F5, A8S6F8, B4DLF3, Q0D2J8, Q0D2J9, Q0D2K0
      Related
      ENSP00000311687.8, ENST00000311946.8
      Conserved Domains (1) summary
      cl23754
      Location:54348
      EamA; EamA-like transporter family
    2. NM_001172292.2NP_001165763.2  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, AK296972
      Consensus CDS
      CCDS54944.1
      Related
      ENSP00000406456.3, ENST00000435489.7

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      157460213..157474722
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534552.2XP_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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      157979233..157993740
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352513.1XP_054208488.1  magnesium transporter NIPA4 isoform X1