SLC25A51 solute carrier family 25 member 51 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC25A51provided by HGNC
Official Full Name: solute carrier family 25 member 51provided by HGNC
Primary source: HGNC:HGNC:23323
See related: Ensembl:ENSG00000122696 MIM:619153; AllianceGenome:HGNC:23323
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: CG7943; MCART1
Summary: Enables NAD transmembrane transporter activity. Involved in mitochondrial NAD transmembrane transport. Located in mitochondrion. Is active in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in fat (RPKM 3.6), testis (RPKM 1.8) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 9p13.2-p13.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (37877575..37904127, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (37901485..37928037, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (37877572..37904124, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SLC25A51 decouples the mitochondrial NAD[+]/NADH ratio to control proliferation of AML cells.
Title: SLC25A51 decouples the mitochondrial NAD(+)/NADH ratio to control proliferation of AML cells.
Layered mechanisms regulating the human mitochondrial NAD+ transporter SLC25A51.
Title: Layered mechanisms regulating the human mitochondrial NAD+ transporter SLC25A51.
Dynamics of SLC25A51 reveal preference for oxidized NAD[+] and substrate led transport.
Title: Dynamics of SLC25A51 reveal preference for oxidized NAD(+) and substrate led transport.
Absence of mitochondrial SLC25A51 enhances PARP1-dependent DNA repair by increasing nuclear NAD+ levels.
Title: Absence of mitochondrial SLC25A51 enhances PARP1-dependent DNA repair by increasing nuclear NAD+ levels.
SLC25A51 promotes tumor growth through sustaining mitochondria acetylation homeostasis and proline biogenesis.
Title: SLC25A51 promotes tumor growth through sustaining mitochondria acetylation homeostasis and proline biogenesis.
Differential levels of CHMP2B, LLPH, and SLC25A51 proteins in secondary renal amyloidosis.
Title: Differential levels of CHMP2B, LLPH, and SLC25A51 proteins in secondary renal amyloidosis.
Welcome to the Family: Identification of the NAD(+) Transporter of Animal Mitochondria as Member of the Solute Carrier Family SLC25.
Title: Welcome to the Family: Identification of the NAD(+) Transporter of Animal Mitochondria as Member of the Solute Carrier Family SLC25.
SLC25A51 is a mammalian mitochondrial NAD(+) transporter.
Title: SLC25A51 is a mammalian mitochondrial NAD(+) transporter.
Epistasis-driven identification of SLC25A51 as a regulator of human mitochondrial NAD import.
Title: Epistasis-driven identification of SLC25A51 as a regulator of human mitochondrial NAD import.
Compares and contrasts all the known human SLC25A* genes and includes functional information.
Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH78981 (e-PCR)
- UniSTS:92672

RH75285 (e-PCR)
- UniSTS:91405

NoName (e-PCR)
- UniSTS:487200

D11S2560 (e-PCR)
- UniSTS:37928

L17705 (e-PCR)
- UniSTS:66091

RH18244 (e-PCR)
- UniSTS:56666

D10S16 (e-PCR)
- UniSTS:155756

G62115 (e-PCR)
- UniSTS:139158

L18441 (e-PCR)
- UniSTS:71348

G30541 (e-PCR)
- UniSTS:54199

GDB:335751 (e-PCR)
- UniSTS:156601

GDB:631802 (e-PCR)
- UniSTS:158429

GDB:631813 (e-PCR)
- UniSTS:158430

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NAD transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables NAD transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables NAD transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of aerobic electron transport chain	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in aerobic electron transport chain	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial NAD transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial NAD transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial NAD transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed

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

General protein information

Go to the top of the page Help

Preferred Names: mitochondrial nicotinamide adenine dinucleotide transporter SLC25A51

Names: mitochondrial NAD(+) transporter SLC25A51; mitochondrial NAD+ transporter; mitochondrial carrier triple repeat 1; mitochondrial carrier triple repeat protein 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

mRNA and Protein(s)

NM_033412.4 → NP_219480.1 mitochondrial nicotinamide adenine dinucleotide transporter SLC25A51

See identical proteins and their annotated locations for NP_219480.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shortest transcript and encodes the functional protein.

Source sequence(s)

AL138752, BG953457

Consensus CDS

CCDS6614.1

UniProtKB/Swiss-Prot

Q9H1U9

UniProtKB/TrEMBL

B4DYA5

Related

ENSP00000242275.6, ENST00000242275.7

Conserved Domains (1) summary

pfam00153
Location:31 → 112

Mito_carr; Mitochondrial carrier protein

RNA

NR_024872.3 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains 3 alternate exons in the 5' and 3' regions and lacks the coding exon, compared to variant 1. This variant is represented as non-coding because it completely lacks the coding region found in variant 1.

Source sequence(s)

AK091407, AK098185, AL138752, KF459922
NR_024873.3 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains 2 alternate exons at the 3' end and lacks the coding exon, compared to variant 1. This variant is represented as non-coding because it completely lacks the coding region found in variant 1.

Source sequence(s)

AK098185, AL138752, BC063563, KF459922