SLC20A1 solute carrier family 20 member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC20A1provided by HGNC
Official Full Name: solute carrier family 20 member 1provided by HGNC
Primary source: HGNC:HGNC:10946
See related: Ensembl:ENSG00000144136 MIM:137570; AllianceGenome:HGNC:10946
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: PIT1; GLVR1; PiT-1; Glvr-1
Summary: The protein encoded by this gene is a sodium-phosphate symporter that absorbs phosphate from interstitial fluid for use in cellular functions such as metabolism, signal transduction, and nucleic acid and lipid synthesis. The encoded protein is also a retroviral receptor, causing human cells to be susceptible to infection by gibbon ape leukemia virus, simian sarcoma-associated virus, feline leukemia virus subgroup B, and 10A1 murine leukemia virus.[provided by RefSeq, Mar 2011]
Expression: Ubiquitous expression in bone marrow (RPKM 15.0), colon (RPKM 14.5) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q14.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (112645939..112663825)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (113072544..113090428)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (113403516..113421402)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pit 1 transporter (SLC20A1) as a key factor in the NPP1-mediated inhibition of insulin signaling in human podocytes.
Title: Pit 1 transporter (SLC20A1) as a key factor in the NPP1-mediated inhibition of insulin signaling in human podocytes.
Cellular abundance of sodium phosphate cotransporter SLC20A1/PiT1 and phosphate uptake are controlled post-transcriptionally by ESCRT.
Title: Cellular abundance of sodium phosphate cotransporter SLC20A1/PiT1 and phosphate uptake are controlled post-transcriptionally by ESCRT.
Long Noncoding RNA SLC20A1-1 Induces Nucleus Pulposus Apoptosis by Sponging miR-146a-5p.
Title: Long Noncoding RNA SLC20A1-1 Induces Nucleus Pulposus Apoptosis by Sponging miR-146a-5p.
Genome-wide methylation association with current suicidal ideation in schizophrenia.
Title: Genome-wide methylation association with current suicidal ideation in schizophrenia.
The present data suggested that SLC20A1 levels are positively associated with tumor size, invasive behavior and tumor recurrence in somatotroph adenomas. Furthermore, SLC20A1 may be associated with the activation of the Wnt/betacatenin signaling pathway.
Title: Impact of SLC20A1 on the Wnt/β‑catenin signaling pathway in somatotroph adenomas.
Targeted sequencing of two candidate genes, SLC20A1 and SLC15A4, of the solute carrier membrane transport protein family in 200 additional patients demonstrated two further variants predicted as damaging for combined hormone deficiency.
Title: Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency.
Overexpression of SLC20A1 is associated with Estrogen Receptor-positive Breast Cancer.
Title: Expression Levels of KMT2C and SLC20A1 Identified by Information-theoretical Analysis Are Powerful Prognostic Biomarkers in Estrogen Receptor-positive Breast Cancer.
indoxyl sulfate promotes Pit-1 expression in part by activation of the JNK pathway in vascular smooth muscle cells
Title: Indoxyl sulfate promotes vascular smooth muscle cell calcification via the JNK/Pit-1 pathway.
Ox-LDL induces an osteogenic change in human aortic valve interstitial cells marked by the induction of PiT-1.
Title: ox-LDL induces PiT-1 expression in human aortic valve interstitial cells.
Overexpression of SLC20A1 promotes apoptosis and mineralization by altering the level of Akt-1.
Title: High expression of the Pi-transporter SLC20A1/Pit1 in calcific aortic valve disease promotes mineralization through regulation of Akt-1.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of SLC20A1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH46300 (e-PCR)
- UniSTS:39948

D2S2795 (e-PCR)
- UniSTS:77888

SHGC-2362 (e-PCR)
- UniSTS:42316

D2S2728 (e-PCR)
- UniSTS:13405

RH69666 (e-PCR)
- UniSTS:7057

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables high-affinity phosphate:sodium symporter activity	IEA Inferred from Electronic Annotation more info
enables phosphate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables signaling receptor activity	TAS Traceable Author Statement more info	PubMed
enables sodium:phosphate symporter activity	IDA Inferred from Direct Assay more info	PubMed
enables sodium:phosphate symporter activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in biomineral tissue development	IEA Inferred from Electronic Annotation more info
involved_in cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in monoatomic ion transport	TAS Traceable Author Statement more info
involved_in phosphate ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphate-containing compound metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	HMP more info	PubMed
involved_in sodium ion transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: sodium-dependent phosphate transporter 1

Names: gibbon ape leukemia virus receptor 1; leukemia virus receptor 1 homolog; solute carrier family 20 (phosphate transporter), member 1

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.

Genomic

NG_028281.1 RefSeqGene

Range

5083..22969

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005415.5 → NP_005406.3 sodium-dependent phosphate transporter 1

See identical proteins and their annotated locations for NP_005406.3

Status: REVIEWED

Source sequence(s)

AC079922, AK312738, BC075818, DB086768

Consensus CDS

CCDS2099.1

UniProtKB/Swiss-Prot

Q08344, Q6DHX8, Q8WUM9, Q9UQ82

UniProtKB/TrEMBL

A7LNJ1

Related

ENSP00000272542.3, ENST00000272542.8

Conserved Domains (2) summary

COG0306
Location:22 → 240

PitA; Phosphate/sulfate permease [Inorganic ion transport and metabolism]

pfam01384
Location:519 → 665

PHO4; Phosphate transporter family