SLC25A33 solute carrier family 25 member 33 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC25A33provided by HGNC
Official Full Name: solute carrier family 25 member 33provided by HGNC
Primary source: HGNC:HGNC:29681
See related: Ensembl:ENSG00000171612 MIM:610816; AllianceGenome:HGNC:29681
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: PNC1; BMSC-MCP
Summary: SLC25A33 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]
Expression: Broad expression in testis (RPKM 27.8), fat (RPKM 18.2) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.22

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (9539465..9585173)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (9075801..9121512)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (9599524..9645231)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

The main physiological role of SLC25A33 and SLC25A36 is to import/export pyrimidine nucleotides into and from mitochondria
Title: The human SLC25A33 and SLC25A36 genes of solute carrier family 25 encode two mitochondrial pyrimidine nucleotide transporters.
Compares and contrasts all the known human SLC25A* genes and includes functional information.
Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
PNC1 is essential for mitochondria maintenance.
Title: Mitochondrial pyrimidine nucleotide carrier (PNC1) regulates mitochondrial biogenesis and the invasive phenotype of cancer cells.
BMSC-MCP is a phylogenetically conserved and widely expressed mitochondrial carrier protein which perhaps associates with mitochondrial oxidative phosphorylation
Title: HuBMSC-MCP, a novel member of mitochondrial carrier superfamily, enhances dendritic cell endocytosis.

Submit: New GeneRIF Correction

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC32104 (e-PCR)
- UniSTS:62232

SHGC-74187 (e-PCR)
- UniSTS:73446

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables pyrimidine nucleotide transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables pyrimidine nucleotide transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to insulin stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to insulin-like growth factor stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondria-nucleus signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitochondrial genome maintenance	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial genome maintenance	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial respiratory chain complex III assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrion organization	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pyrimidine nucleotide import into mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
involved_in pyrimidine nucleotide import into mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pyrimidine nucleotide import into mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
involved_in pyrimidine nucleotide transport	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of mitochondrial membrane potential	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of oxidative phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of reactive oxygen species biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: solute carrier family 25 member 33

Names: bone marrow stromal cell mitochondrial carrier protein; huBMSC-MCP; mitochondrial carrier protein; novel mitochondrial carrier protein; solute carrier family 25 (pyrimidine nucleotide carrier), member 33

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.