KEGG   Homo sapiens (human): 6576
Entry
6576              CDS       T01001                                 

Gene name
SLC25A1, CMS23, CTP, D2L2AD, SEA, SLC20A3
Definition
(RefSeq) solute carrier family 25 member 1
  KO
K15100  solute carrier family 25 (mitochondrial citrate transporter), member 1
Organism
hsa  Homo sapiens (human)
Disease
H00770  Congenital myasthenic syndrome
H02304  Combined D-2- and L-2-hydroxyglutaric aciduria
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    6576 (SLC25A1)
Transporters [BR:hsa02000]
 Solute carrier family (SLC)
  SLC25: Mitochondrial carrier
   6576 (SLC25A1)
SSDB
Motif
Pfam: Mito_carr
Other DBs
NCBI-GeneID: 6576
NCBI-ProteinID: NP_005975
OMIM: 190315
HGNC: 10979
Ensembl: ENSG00000100075
Vega: OTTHUMG00000150123
Pharos: P53007(Tbio)
UniProt: P53007
Position
22q11.21
AA seq 311 aa
MPAPRAPRALAAAAPASGKAKLTHPGKAILAGGLAGGIEICITFPTEYVKTQLQLDERSH
PPRYRGIGDCVRQTVRSHGVLGLYRGLSSLLYGSIPKAAVRFGMFEFLSNHMRDAQGRLD
STRGLLCGLGAGVAEAVVVVCPMETIKVKFIHDQTSPNPKYRGFFHGVREIVREQGLKGT
YQGLTATVLKQGSNQAIRFFVMTSLRNWYRGDNPNKPMNPLITGVFGAIAGAASVFGNTP
LDVIKTRMQGLEAHKYRNTWDCGLQILKKEGLKAFYKGTVPRLGRVCLDVAIVFVIYDEV
VKLLNKVWKTD
NT seq 936 nt   +upstreamnt  +downstreamnt
atgcccgcgccccgcgccccgcgcgctctggcggccgccgcgcccgcgtccgggaaggcc
aagctgacgcacccggggaaggcgatcctggcaggcggcctggcgggtggcatcgagatc
tgcatcaccttccccaccgagtacgtgaagacgcagctgcagctggacgagcgctcgcac
ccgccgcggtaccggggcatcggggactgcgtgcggcagacggttcgcagccatggcgtc
ctgggcctgtaccgcggccttagctccctgctctacggttccatccccaaggcggccgtc
aggtttggaatgttcgagttcctcagcaaccacatgcgggatgcccagggacggctggac
agcacgcgtgggctgctgtgcggcctgggcgctggcgtggccgaggccgtggtggtcgtg
tgccccatggagaccatcaaggtgaagttcatccacgaccagacctccccaaaccccaag
tacagaggattcttccacggggttagggagattgtgcgggaacaagggctgaaggggacg
taccagggcctcacagccactgtcctgaagcagggctcgaaccaggccatccgcttcttc
gtcatgacctccctgcgcaactggtaccgaggggacaaccccaacaagcccatgaaccct
ctgatcactggggtcttcggagctattgcaggcgcagccagtgtctttggaaacactcct
ctggatgtgattaagacccggatgcagggcctggaggcgcacaaataccggaacacgtgg
gactgcggcttgcagatcctgaagaaggaggggctcaaggcattctacaagggcactgtc
ccccgcctgggccgggtctgcctggatgtggccatagtgtttgtcatctatgatgaagtg
gtgaagctgctcaacaaagtgtggaagacggactaa

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