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UniProtKB - Q96H78 (S2544_HUMAN)
Protein
Solute carrier family 25 member 44
Gene
SLC25A44
Organism
Homo sapiens (Human)
Status
Functioni
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 the mitochondria for thermogenesis (PubMed:31435015).
By similarity1 PublicationGO - Molecular functioni
- branched-chain amino acid transmembrane transporter activity Source: UniProtKB
GO - Biological processi
- branched-chain amino acid catabolic process Source: UniProtKB
- branched-chain amino acid transport Source: UniProtKB
- regulation of cold-induced thermogenesis Source: UniProtKB
Keywordsi
Biological process | Amino-acid transport, Transport |
Enzyme and pathway databases
PathwayCommonsi | Q96H78 |
Reactomei | R-HSA-70895, Branched-chain amino acid catabolism |
SignaLinki | Q96H78 |
Protein family/group databases
TCDBi | 2.A.29.14.7, the mitochondrial carrier (mc) family |
Names & Taxonomyi
Protein namesi | Recommended name: Solute carrier family 25 member 44 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:29036, SLC25A44 |
MIMi | 610824, gene |
neXtProti | NX_Q96H78 |
VEuPathDBi | HostDB:ENSG00000160785 |
Subcellular locationi
Mitochondrion
- Mitochondrion membrane By similarity; Multi-pass membrane protein Sequence analysis
Mitochondrion
- mitochondrial membrane Source: UniProtKB-SubCell
- mitochondrion Source: UniProtKB
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 20 – 42 | Helical; Name=1Sequence analysisAdd BLAST | 23 | |
Transmembranei | 71 – 90 | Helical; Name=2Sequence analysisAdd BLAST | 20 | |
Transmembranei | 113 – 133 | Helical; Name=3Sequence analysisAdd BLAST | 21 | |
Transmembranei | 185 – 201 | Helical; Name=4Sequence analysisAdd BLAST | 17 | |
Transmembranei | 222 – 239 | Helical; Name=5Sequence analysisAdd BLAST | 18 | |
Transmembranei | 278 – 296 | Helical; Name=6Sequence analysisAdd BLAST | 19 |
Keywords - Cellular componenti
Membrane, MitochondrionPathology & Biotechi
Organism-specific databases
DisGeNETi | 9673 |
OpenTargetsi | ENSG00000160785 |
PharmGKBi | PA162403705 |
Miscellaneous databases
Pharosi | Q96H78, Tdark |
Genetic variation databases
BioMutai | SLC25A44 |
DMDMi | 74751902 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000253064 | 1 – 314 | Solute carrier family 25 member 44Add BLAST | 314 |
Proteomic databases
EPDi | Q96H78 |
jPOSTi | Q96H78 |
MassIVEi | Q96H78 |
MaxQBi | Q96H78 |
PaxDbi | Q96H78 |
PeptideAtlasi | Q96H78 |
PRIDEi | Q96H78 |
ProteomicsDBi | 76709 |
PTM databases
iPTMneti | Q96H78 |
PhosphoSitePlusi | Q96H78 |
Expressioni
Inductioni
Induction by cold exposure in brown adipose tissues.1 Publication
Gene expression databases
Bgeei | ENSG00000160785, Expressed in amniotic fluid and 241 other tissues |
ExpressionAtlasi | Q96H78, baseline and differential |
Genevisiblei | Q96H78, HS |
Organism-specific databases
HPAi | ENSG00000160785, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 115028, 7 interactors |
IntActi | Q96H78, 3 interactors |
STRINGi | 9606.ENSP00000407560 |
Miscellaneous databases
RNActi | Q96H78, protein |
Structurei
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 18 – 100 | Solcar 1PROSITE-ProRule annotationAdd BLAST | 83 | |
Repeati | 107 – 210 | Solcar 2PROSITE-ProRule annotationAdd BLAST | 104 | |
Repeati | 220 – 302 | Solcar 3PROSITE-ProRule annotationAdd BLAST | 83 |
Sequence similaritiesi
Keywords - Domaini
Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0765, Eukaryota |
GeneTreei | ENSGT00940000155399 |
HOGENOMi | CLU_015166_3_3_1 |
InParanoidi | Q96H78 |
OMAi | ELWHEEK |
OrthoDBi | 1102784at2759 |
PhylomeDBi | Q96H78 |
TreeFami | TF354268 |
Family and domain databases
Gene3Di | 1.50.40.10, 2 hits |
InterProi | View protein in InterPro IPR002067, Mit_carrier IPR018108, Mitochondrial_sb/sol_carrier IPR023395, Mt_carrier_dom_sf IPR042164, SLC25A44 |
PANTHERi | PTHR46314, PTHR46314, 1 hit |
Pfami | View protein in Pfam PF00153, Mito_carr, 3 hits |
PRINTSi | PR00926, MITOCARRIER |
SUPFAMi | SSF103506, SSF103506, 1 hit |
PROSITEi | View protein in PROSITE PS50920, SOLCAR, 3 hits |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
Q96H78-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MEDKRNIQII EWEHLDKKKF YVFGVAMTMM IRVSVYPFTL IRTRLQVQKG
60 70 80 90 100
KSLYHGTFDA FIKILRADGI TGLYRGFLVN TFTLISGQCY VTTYELTRKF
110 120 130 140 150
VADYSQSNTV KSLVAGGSAS LVAQSITVPI DVVSQHLMMQ RKGEKMGRFQ
160 170 180 190 200
VRGNPEGQGV VAFGQTKDII RQILQADGLR GFYRGYVASL LTYIPNSAVW
210 220 230 240 250
WPFYHFYAEQ LSYLCPKECP HIVFQAVSGP LAAATASILT NPMDVIRTRV
260 270 280 290 300
QVEGKNSIIL TFRQLMAEEG PWGLMKGLSA RIISATPSTI VIVVGYESLK
310
KLSLRPELVD SRHW
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE9PGQ0 | E9PGQ0_HUMAN | Solute carrier family 25 member 44 | SLC25A44 | 322 | Annotation score: | ||
A0A804HJB0 | A0A804HJB0_HUMAN | Solute carrier family 25 member 44 | SLC25A44 | 101 | Annotation score: |
Sequence cautioni
The sequence BAA32291 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 208 | A → AAIVFPWIP in BAA32291 (PubMed:9455484).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_050134 | 52 | S → I. Corresponds to variant dbSNP:rs11576750Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB007915 mRNA Translation: BAA32291.3 Different initiation. AK074912 mRNA Translation: BAC11287.1 AK075002 mRNA Translation: BAC11347.1 AL135927 Genomic DNA No translation available. BC008843 mRNA Translation: AAH08843.1 BC039854 mRNA Translation: AAH39854.1 |
CCDSi | CCDS1133.1 |
RefSeqi | NP_001273113.1, NM_001286184.1 NP_055470.1, NM_014655.3 XP_006711720.1, XM_006711657.3 XP_011508482.1, XM_011510180.1 XP_011508483.1, XM_011510181.1 XP_016858393.1, XM_017002904.1 XP_016858394.1, XM_017002905.1 XP_016858395.1, XM_017002906.1 |
Genome annotation databases
Ensembli | ENST00000359511; ENSP00000352497; ENSG00000160785 |
GeneIDi | 9673 |
KEGGi | hsa:9673 |
MANE-Selecti | ENST00000359511.5; ENSP00000352497.4; NM_014655.4; NP_055470.1 |
UCSCi | uc001fnp.5, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB007915 mRNA Translation: BAA32291.3 Different initiation. AK074912 mRNA Translation: BAC11287.1 AK075002 mRNA Translation: BAC11347.1 AL135927 Genomic DNA No translation available. BC008843 mRNA Translation: AAH08843.1 BC039854 mRNA Translation: AAH39854.1 |
CCDSi | CCDS1133.1 |
RefSeqi | NP_001273113.1, NM_001286184.1 NP_055470.1, NM_014655.3 XP_006711720.1, XM_006711657.3 XP_011508482.1, XM_011510180.1 XP_011508483.1, XM_011510181.1 XP_016858393.1, XM_017002904.1 XP_016858394.1, XM_017002905.1 XP_016858395.1, XM_017002906.1 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 115028, 7 interactors |
IntActi | Q96H78, 3 interactors |
STRINGi | 9606.ENSP00000407560 |
Protein family/group databases
TCDBi | 2.A.29.14.7, the mitochondrial carrier (mc) family |
PTM databases
iPTMneti | Q96H78 |
PhosphoSitePlusi | Q96H78 |
Genetic variation databases
BioMutai | SLC25A44 |
DMDMi | 74751902 |
Proteomic databases
EPDi | Q96H78 |
jPOSTi | Q96H78 |
MassIVEi | Q96H78 |
MaxQBi | Q96H78 |
PaxDbi | Q96H78 |
PeptideAtlasi | Q96H78 |
PRIDEi | Q96H78 |
ProteomicsDBi | 76709 |
Protocols and materials databases
Antibodypediai | 47042, 25 antibodies from 10 providers |
DNASUi | 9673 |
Genome annotation databases
Ensembli | ENST00000359511; ENSP00000352497; ENSG00000160785 |
GeneIDi | 9673 |
KEGGi | hsa:9673 |
MANE-Selecti | ENST00000359511.5; ENSP00000352497.4; NM_014655.4; NP_055470.1 |
UCSCi | uc001fnp.5, human |
Organism-specific databases
CTDi | 9673 |
DisGeNETi | 9673 |
GeneCardsi | SLC25A44 |
HGNCi | HGNC:29036, SLC25A44 |
HPAi | ENSG00000160785, Low tissue specificity |
MIMi | 610824, gene |
neXtProti | NX_Q96H78 |
OpenTargetsi | ENSG00000160785 |
PharmGKBi | PA162403705 |
VEuPathDBi | HostDB:ENSG00000160785 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0765, Eukaryota |
GeneTreei | ENSGT00940000155399 |
HOGENOMi | CLU_015166_3_3_1 |
InParanoidi | Q96H78 |
OMAi | ELWHEEK |
OrthoDBi | 1102784at2759 |
PhylomeDBi | Q96H78 |
TreeFami | TF354268 |
Enzyme and pathway databases
PathwayCommonsi | Q96H78 |
Reactomei | R-HSA-70895, Branched-chain amino acid catabolism |
SignaLinki | Q96H78 |
Miscellaneous databases
BioGRID-ORCSi | 9673, 6 hits in 1046 CRISPR screens |
ChiTaRSi | SLC25A44, human |
GenomeRNAii | 9673 |
Pharosi | Q96H78, Tdark |
PROi | PR:Q96H78 |
RNActi | Q96H78, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000160785, Expressed in amniotic fluid and 241 other tissues |
ExpressionAtlasi | Q96H78, baseline and differential |
Genevisiblei | Q96H78, HS |
Family and domain databases
Gene3Di | 1.50.40.10, 2 hits |
InterProi | View protein in InterPro IPR002067, Mit_carrier IPR018108, Mitochondrial_sb/sol_carrier IPR023395, Mt_carrier_dom_sf IPR042164, SLC25A44 |
PANTHERi | PTHR46314, PTHR46314, 1 hit |
Pfami | View protein in Pfam PF00153, Mito_carr, 3 hits |
PRINTSi | PR00926, MITOCARRIER |
SUPFAMi | SSF103506, SSF103506, 1 hit |
PROSITEi | View protein in PROSITE PS50920, SOLCAR, 3 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | S2544_HUMAN | |
Accessioni | Q96H78Primary (citable) accession number: Q96H78 Secondary accession number(s): O75034 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 17, 2006 |
Last sequence update: | December 1, 2001 | |
Last modified: | February 23, 2022 | |
This is version 155 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families