MPC1L mitochondrial pyruvate carrier 1 like [Homo sapiens (human)] - Gene

Summary

Official Symbol: MPC1Lprovided by HGNC
Official Full Name: mitochondrial pyruvate carrier 1 likeprovided by HGNC
Primary source: HGNC:HGNC:44205
See related: Ensembl:ENSG00000238205 MIM:301103; AllianceGenome:HGNC:44205
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: SLC54A3
Summary: Predicted to enable pyruvate transmembrane transporter activity. Predicted to be involved in mitochondrial pyruvate transmembrane transport. Predicted to be integral component of mitochondrial inner membrane. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: mouse all
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Genomic context

Location:: Xp11.4

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (40623428..40624136)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (40024973..40025681)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (40482680..40483388)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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)

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables pyruvate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in mitochondrial pyruvate transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial pyruvate transmembrane transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in mitochondrial inner membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: mitochondrial pyruvate carrier 1-like protein

Names: brain protein 44-like protein 2

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)

NM_001195522.3 → NP_001182451.1 mitochondrial pyruvate carrier 1-like protein

Status: VALIDATED

Source sequence(s)

AC092473

Consensus CDS

CCDS83466.1

UniProtKB/Swiss-Prot

P0DKB6

Related

ENSP00000489748.1, ENST00000423387.4

Conserved Domains (1) summary

pfam03650
Location:26 → 99

MPC; uncharacterized protein family (UPF0041)