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NIPAL1 NIPA like domain containing 1 [ Homo sapiens (human) ]

Gene ID: 152519, updated on 23-Nov-2023

Summary

Official Symbol
NIPAL1provided by HGNC
Official Full Name
NIPA like domain containing 1provided by HGNC
Primary source
HGNC:HGNC:27194
See related
Ensembl:ENSG00000163293 MIM:620340; AllianceGenome:HGNC:27194
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NIPA3; NPAL1; SLC57A3
Summary
Predicted to enable magnesium ion transmembrane transporter activity. Predicted to be involved in magnesium ion transport. Predicted to be integral component of membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in esophagus (RPKM 12.5), skin (RPKM 12.2) and 13 other tissues See more
Orthologs
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Genomic context

See NIPAL1 in Genome Data Viewer
Location:
4p12
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (48016772..48040173)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (47983845..48007239)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (48018789..48042190)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927179 Neighboring gene nuclear transcription factor, X-box binding like 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:47915468-47916154 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:47916155-47916840 Neighboring gene uncharacterized LOC101927157 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:47924749-47925248 Neighboring gene cyclic nucleotide gated channel subunit alpha 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:48013506-48014020 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:48014021-48014534 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:48018379-48018880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15402 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15403 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21533 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21534 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21535 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21536 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:48095793-48096992 Neighboring gene TXK tyrosine kinase Neighboring gene uncharacterized LOC124900886 Neighboring gene RNA, U6 small nuclear 838, 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

Clone Names

  • DKFZp686A06115

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables magnesium ion transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
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
located_in Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
magnesium transporter NIPA3
Names
NIPA-like protein 1
non-imprinted in Prader-Willi/Angelman syndrome region protein 3

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_207330.3NP_997213.1  magnesium transporter NIPA3

    See identical proteins and their annotated locations for NP_997213.1

    Status: VALIDATED

    Source sequence(s)
    AC096749, AK023734, AK095299, AL832997, BC067881, CB960388, CR749484, DA730492, DA830885
    Consensus CDS
    CCDS3479.1
    UniProtKB/Swiss-Prot
    B3KTB0, Q68DA9, Q6NVV3
    Related
    ENSP00000295461.5, ENST00000295461.10
    Conserved Domains (1) summary
    cl23754
    Location:66358
    EamA; EamA-like transporter family

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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    48016772..48040173
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007784.2XP_016863273.1  magnesium transporter NIPA3 isoform X1

  2. XM_047449642.1XP_047305598.1  magnesium transporter NIPA3 isoform X2

    Related
    ENST00000508180.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    47983845..48007239
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054348989.1XP_054204964.1  magnesium transporter NIPA3 isoform X2

  2. XM_054348988.1XP_054204963.1  magnesium transporter NIPA3 isoform X1