Gene Gene information from NCBI Gene database.
Entrez ID 9673
Gene name Solute carrier family 25 member 44
Gene symbol SLC25A44
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1q22
Summary SLC25A44 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]
miRNA miRNA information provided by mirtarbase database.
1014
miRTarBase ID miRNA Experiments Reference
MIRT016231 hsa-miR-548b-3p Sequencing 20371350
MIRT025960 hsa-miR-7-5p Sequencing 20371350
MIRT030354 hsa-miR-26b-5p Sequencing 20371350
MIRT049375 hsa-miR-92a-3p CLASH 23622248
MIRT043801 hsa-miR-328-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IEA
GO:0005739 Component Mitochondrion ISS
GO:0006865 Process Amino acid transport IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610824 29036 ENSG00000160785
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96H78
Protein name Solute carrier family 25 member 44
Protein function Mitochondrial solute transporter which transports branched-chain amino acid (BCAA; valine, leucine and isoleucine) into mitochondria in brown adipose tissue (BAT) (By similarity). BAT is involved in BCAA catabolism and actively utilizes BCAA in
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00153 Mito_carr 19 105 Mitochondrial carrier protein Family
PF00153 Mito_carr 105 213 Mitochondrial carrier protein Family
PF00153 Mito_carr 220 306 Mitochondrial carrier protein Family
Sequence
MEDKRNIQIIEWEHLDKKKFYVFGVAMTMMIRVSVYPFTLIRTRLQVQKGKSLYHGTFDA
FIKILRADGITGLYRGFLVNTFTLISGQCYVTTYELTRKFVADY
SQSNTVKSLVAGGSAS
LVAQSITVPIDVVSQHLMMQRKGEKMGRFQVRGNPEGQGVVAFGQTKDIIRQILQADGLR
GFYRGYVASLLTYIPNSAVWWPFYHFYAEQLSY
LCPKECPHIVFQAVSGPLAAATASILT
NPMDVIRTRVQVEGKNSIILTFRQLMAEEGPWGLMKGLSARIISATPSTIVIVVGYESLK
KLSLRP
ELVDSRHW
Sequence length 314
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Melanoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Cerebral Small Vessel Diseases Cerebral microangiopathy Pubtator 31430377 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★☆☆☆☆
Found in Text Mining only
Pancreatic Neoplasms Pancreatic neoplasm Pubtator 36514121 Associate
★☆☆☆☆
Found in Text Mining only
Testicular Germ Cell Tumor Testicular Germ Cell Tumor GWASDB_DG 23666240
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Testicular Germ Cell Tumor Testicular Germ Cell Tumor GWASCAT_DG 25877299, 28604728, 28604732
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Testicular Neoplasms Testicular Neoplasms GWASCAT_DG 23666240
★☆☆☆☆
Found in Text Mining only