Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9673
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 25 member 44
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC25A44
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q22
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610824 29036 ENSG00000160785
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast cancer Breast cancer N/A N/A GWAS
Testicular Germ Cell Tumor Testicular germ cell tumor N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cerebral Small Vessel Diseases Associate 31430377
Neoplasm Metastasis Inhibit 36514121
Neoplasms Inhibit 36514121
Pancreatic Neoplasms Associate 36514121