SLC25A17 solute carrier family 25 member 17 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC25A17provided by HGNC
Official Full Name: solute carrier family 25 member 17provided by HGNC
Primary source: HGNC:HGNC:10987
See related: Ensembl:ENSG00000100372 MIM:606795; AllianceGenome:HGNC:10987
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: PMP34
Summary: This gene encodes a peroxisomal membrane protein that belongs to the family of mitochondrial solute carriers. It is expressed in the liver, and is likely involved in transport. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Expression: Ubiquitous expression in ovary (RPKM 10.5), thyroid (RPKM 8.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (40769630..40819346, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (41241822..41291529, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (41165634..41215350, complement)

Chromosome 22 - NC_000022.11 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: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The solute carrier SLC25A17 sustains peroxisomal redox homeostasis in diverse mammalian cell lines.
Title: The solute carrier SLC25A17 sustains peroxisomal redox homeostasis in diverse mammalian cell lines.
Multiomics data analyses to identify SLC25A17 as a novel biomarker to predict the prognosis and immune microenvironment in head and neck squamous cell carcinoma.
Title: Multiomics data analyses to identify SLC25A17 as a novel biomarker to predict the prognosis and immune microenvironment in head and neck squamous cell carcinoma.
PEX16 mediates the peroxisomal trafficking of two distinct peroxisomal membrane proteins, PEX3 and PMP34, via the endoplasmic reticulum
Title: PEX16 contributes to peroxisome maintenance by constantly trafficking PEX3 via the ER.
Compares and contrasts all the known human SLC25A* genes and includes functional information.
Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
SLC25A17 is a transporter for CoA and FAD, and to a lesser extent NAD
Title: The human gene SLC25A17 encodes a peroxisomal transporter of coenzyme A, FAD and NAD+.
Results describe the identification of PMP34, a peroxisomal membrane protein belonging to the mitochondrial solute carrier family, as an adenine nucleotide transporter.
Title: Identification of human PMP34 as a peroxisomal ATP transporter.

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

SGC35084 (e-PCR)
- UniSTS:5891

SHGC-52894 (e-PCR)
- UniSTS:83203

SGC38343 (e-PCR)
- UniSTS:38927

D22S588 (e-PCR)
- UniSTS:19521

RH80474 (e-PCR)
- UniSTS:86092

A004I16 (e-PCR)
- UniSTS:22131

D22S1200 (e-PCR)
- UniSTS:70026

RH46061 (e-PCR)
- UniSTS:88475

SLC25A17_724 (e-PCR)
- UniSTS:277735

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ADP transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables ADP transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables AMP transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables AMP transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables ATP transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATP transmembrane transporter activity	IGI Inferred from Genetic Interaction more info	PubMed
enables FAD transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables FAD transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables FMN transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables FMN transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
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 adenine nucleotide transmembrane transporter activity	TAS Traceable Author Statement more info
enables antiporter activity	IEA Inferred from Electronic Annotation more info
enables coenzyme A transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables coenzyme A transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-folding chaperone binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ADP transport	IEA Inferred from Electronic Annotation more info
involved_in AMP transport	IEA Inferred from Electronic Annotation more info
involved_in ATP transport	IGI Inferred from Genetic Interaction more info	PubMed
involved_in FAD transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in NAD transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in coenzyme A transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in fatty acid alpha-oxidation	TAS Traceable Author Statement more info
involved_in fatty acid beta-oxidation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in fatty acid transport	IGI Inferred from Genetic Interaction more info	PubMed
involved_in nucleotide transmembrane transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
is_active_in peroxisomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in peroxisomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in peroxisomal membrane	TAS Traceable Author Statement more info
located_in peroxisome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: peroxisomal membrane protein PMP34

Names: solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17

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_001282726.2 → NP_001269655.1 peroxisomal membrane protein PMP34 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate exon in the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform 2, which has a shorter and distinct N-terminus, compared to isoform 1.

Source sequence(s)

AK300553, BX647991, DC397321

UniProtKB/TrEMBL

B4DU97

Conserved Domains (1) summary

pfam00153
Location:60 → 160

Mito_carr; Mitochondrial carrier protein
NM_001282727.2 → NP_001269656.1 peroxisomal membrane protein PMP34 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks two alternate exons in the 5' coding region, compared to variant 1. It encodes isoform 3, which lacks an internal in-frame segment and is shorter, compared to isoform 1.

Source sequence(s)

AK298215, BC005957, BX647991, DC397321

Consensus CDS

CCDS74868.1

UniProtKB/TrEMBL

B4DP73, F6RTR7

Related

ENSP00000438355.2, ENST00000544408.5

Conserved Domains (1) summary

pfam00153
Location:39 → 124

Mito_carr; Mitochondrial carrier protein
NM_006358.4 → NP_006349.1 peroxisomal membrane protein PMP34 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

BC012998, BX647991, DC397321

Consensus CDS

CCDS14005.1

UniProtKB/Swiss-Prot

A8KA59, O43808, Q5TFL0, Q9UGW8, Q9UGY7

Related

ENSP00000390722.2, ENST00000435456.7

Conserved Domains (1) summary

pfam00153
Location:97 → 197

Mito_carr; Mitochondrial carrier protein

RNA

NR_104235.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) contains two alternate internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BC024741, BX647991, DC397321

Related

ENST00000491545.5
NR_104236.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (5) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BC024741, BX352732, BX647991, DC397321

Related

ENST00000263255.10
NR_104237.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (6) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AU123445, BC005957, BX647991, DC397321
NR_104238.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (7) lacks three internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BQ440957, BX647991, DC397321