Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	253512
Gene name	Solute carrier family 25 member 30
Gene symbol	SLC25A30
Synonyms (NCBI Gene)	KMCP1
Chromosome	13
Chromosome location	13q14.13
Summary	Although the outer mitochondrial membrane is permeable to many small metabolites, transport of solutes across the inner mitochondrial membrane is achieved by members of the mitochondrial carrier protein family, such as SLC25A30 (Haguenauer et al., 2005 [P

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018190	hsa-miR-335-5p	Microarray	18185580
MIRT021436	hsa-miR-9-5p	Microarray	17612493
MIRT002682	hsa-miR-124-3p	Microarray	15685193
MIRT002682	hsa-miR-124-3p	Microarray	18668037
MIRT023277	hsa-miR-122-5p	Microarray	17612493
MIRT002777	hsa-miR-1-3p	Microarray	18668037
MIRT002777	hsa-miR-1-3p	Microarray	15685193
MIRT026526	hsa-miR-192-5p	Microarray	19074876
MIRT050172	hsa-miR-26a-5p	CLASH	23622248
MIRT047420	hsa-miR-10b-5p	CLASH	23622248
MIRT1356172	hsa-miR-1229	CLIP-seq
MIRT1356173	hsa-miR-1253	CLIP-seq
MIRT1356174	hsa-miR-1264	CLIP-seq
MIRT1356175	hsa-miR-128	CLIP-seq
MIRT1356176	hsa-miR-1303	CLIP-seq
MIRT1356177	hsa-miR-194	CLIP-seq
MIRT1356178	hsa-miR-27a	CLIP-seq
MIRT1356179	hsa-miR-27b	CLIP-seq
MIRT1356180	hsa-miR-3124-3p	CLIP-seq
MIRT1356181	hsa-miR-3140-3p	CLIP-seq
MIRT1356182	hsa-miR-3148	CLIP-seq
MIRT1356183	hsa-miR-3170	CLIP-seq
MIRT1356184	hsa-miR-3179	CLIP-seq
MIRT1356185	hsa-miR-3185	CLIP-seq
MIRT1356186	hsa-miR-3190	CLIP-seq
MIRT1356187	hsa-miR-330-3p	CLIP-seq
MIRT1356188	hsa-miR-342-3p	CLIP-seq
MIRT1356189	hsa-miR-34b	CLIP-seq
MIRT1356190	hsa-miR-3692	CLIP-seq
MIRT1356191	hsa-miR-3914	CLIP-seq
MIRT1356192	hsa-miR-3942-3p	CLIP-seq
MIRT1356193	hsa-miR-4255	CLIP-seq
MIRT1356194	hsa-miR-4276	CLIP-seq
MIRT1356195	hsa-miR-4452	CLIP-seq
MIRT1356196	hsa-miR-4464	CLIP-seq
MIRT1356197	hsa-miR-4476	CLIP-seq
MIRT1356198	hsa-miR-4519	CLIP-seq
MIRT1356199	hsa-miR-4668-3p	CLIP-seq
MIRT1356200	hsa-miR-4668-5p	CLIP-seq
MIRT1356201	hsa-miR-4719	CLIP-seq
MIRT1356202	hsa-miR-4720-3p	CLIP-seq
MIRT1356203	hsa-miR-4748	CLIP-seq
MIRT1356204	hsa-miR-4804-3p	CLIP-seq
MIRT1356205	hsa-miR-494	CLIP-seq
MIRT1356206	hsa-miR-548u	CLIP-seq
MIRT1356207	hsa-miR-556-3p	CLIP-seq
MIRT1356208	hsa-miR-635	CLIP-seq
MIRT1356209	hsa-miR-653	CLIP-seq
MIRT1356210	hsa-miR-656	CLIP-seq
MIRT1356211	hsa-miR-759	CLIP-seq
MIRT1553724	hsa-miR-548ac	CLIP-seq
MIRT1553725	hsa-miR-548d-3p	CLIP-seq
MIRT1553726	hsa-miR-548z	CLIP-seq
MIRT2105467	hsa-miR-1224-3p	CLIP-seq
MIRT2105468	hsa-miR-145	CLIP-seq
MIRT2105469	hsa-miR-3171	CLIP-seq
MIRT2105470	hsa-miR-3180-5p	CLIP-seq
MIRT2105471	hsa-miR-4495	CLIP-seq
MIRT2105472	hsa-miR-455-3p	CLIP-seq
MIRT2105473	hsa-miR-4724-3p	CLIP-seq
MIRT2105474	hsa-miR-4795-3p	CLIP-seq
MIRT2105475	hsa-miR-548a-5p	CLIP-seq
MIRT2105476	hsa-miR-548ab	CLIP-seq
MIRT2105477	hsa-miR-548ak	CLIP-seq
MIRT2105478	hsa-miR-548b-5p	CLIP-seq
MIRT2105479	hsa-miR-548c-3p	CLIP-seq
MIRT2105480	hsa-miR-548c-5p	CLIP-seq
MIRT2105481	hsa-miR-548d-5p	CLIP-seq
MIRT2105482	hsa-miR-548h	CLIP-seq
MIRT2105483	hsa-miR-548i	CLIP-seq
MIRT2105484	hsa-miR-548j	CLIP-seq
MIRT2105485	hsa-miR-548w	CLIP-seq
MIRT2105486	hsa-miR-548y	CLIP-seq
MIRT2105487	hsa-miR-559	CLIP-seq
MIRT2105467	hsa-miR-1224-3p	CLIP-seq
MIRT1356174	hsa-miR-1264	CLIP-seq
MIRT2105468	hsa-miR-145	CLIP-seq
MIRT2330003	hsa-miR-15a	CLIP-seq
MIRT2330004	hsa-miR-15b	CLIP-seq
MIRT2330005	hsa-miR-16	CLIP-seq
MIRT2330006	hsa-miR-195	CLIP-seq
MIRT2330007	hsa-miR-3130-3p	CLIP-seq
MIRT2330008	hsa-miR-3145-3p	CLIP-seq
MIRT1356187	hsa-miR-330-3p	CLIP-seq
MIRT2330009	hsa-miR-3591-3p	CLIP-seq
MIRT2330010	hsa-miR-3689a-5p	CLIP-seq
MIRT2330011	hsa-miR-3689b	CLIP-seq
MIRT2330012	hsa-miR-3689e	CLIP-seq
MIRT2330013	hsa-miR-3689f	CLIP-seq
MIRT2330014	hsa-miR-384	CLIP-seq
MIRT2330015	hsa-miR-424	CLIP-seq
MIRT2330016	hsa-miR-4273	CLIP-seq
MIRT1356194	hsa-miR-4276	CLIP-seq
MIRT2330017	hsa-miR-4302	CLIP-seq
MIRT1356198	hsa-miR-4519	CLIP-seq
MIRT2330018	hsa-miR-4524	CLIP-seq
MIRT2330019	hsa-miR-4659a-3p	CLIP-seq
MIRT2330020	hsa-miR-4659b-3p	CLIP-seq
MIRT2330021	hsa-miR-4661-3p	CLIP-seq
MIRT1356199	hsa-miR-4668-3p	CLIP-seq
MIRT2330022	hsa-miR-4677-5p	CLIP-seq
MIRT2330023	hsa-miR-4789-3p	CLIP-seq
MIRT2105474	hsa-miR-4795-3p	CLIP-seq
MIRT2330024	hsa-miR-497	CLIP-seq
MIRT2330025	hsa-miR-503	CLIP-seq
MIRT2330026	hsa-miR-513a-3p	CLIP-seq
MIRT2330027	hsa-miR-562	CLIP-seq
MIRT2330028	hsa-miR-646	CLIP-seq
MIRT2394666	hsa-miR-1273d	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005452	Function	Solute:inorganic anion antiporter activity	IDA	31356773
GO:0005452	Function	Solute:inorganic anion antiporter activity	IEA
GO:0005515	Function	Protein binding	IPI	26387735
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS	15809292
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0015698	Process	Inorganic anion transport	IDA	31356773
GO:0016020	Component	Membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IBA
GO:0055085	Process	Transmembrane transport	IEA

MIM	HGNC	e!Ensembl
610793	27371	ENSG00000174032

Q5SVS4

Protein name

Kidney mitochondrial carrier protein 1 (Solute carrier family 25 member 30) (Uncoupling protein 6)

Protein function

Antiporter that transports inorganic anions (sulfate, sulfite, thiosulfate and phosphate) and, to a lesser extent, a variety of dicarboxylates (e.g. malonate, malate and citramalate) and, even more so, aspartate (PubMed:31356773). The sulfate/su

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00153	Mito_carr	2 → 101	Mitochondrial carrier protein	Family
PF00153	Mito_carr	102 → 194	Mitochondrial carrier protein	Family
PF00153	Mito_carr	197 → 290	Mitochondrial carrier protein	Family

Sequence

MSALNWKPFVYGGLASITAECGTFPIDLTKTRLQIQGQTNDAKFKEIRYRGMLHALVRIG
REEGLKALYSGIAPAMLRQASYGTIKIGTYQSLKRLFIERPEDETLPINVICGILSGVIS
STIANPTDVLKIRMQAQSNTIQGGMIGNFMNIYQQEGTRGLWKGVSLTAQRAAIVVGVEL
PVYDITKKHLILSGLMGDTVYTHFLSSFTCGLAGALASNPVDVVRTRMMNQRVLRDGRCS
GYTGTLDCLLQTWKNEGFFALYKGFWPNWLRLGPWNIIFFVTYEQLKKLDL

Sequence length

291

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

SLC25A30 (solute carrier family 25 member 30)