| Nomenclature | Genomic Location |
| Symbol | Slc22a5 | Chromosome | 1 |
| Name | Solute carrier family 22,
member 5 | Linkage map | unknown |
| Species | Dracomimus familiaris | Genome Coordinates | 1: 30 Mbp |
| Molecular Function |
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Sodium-ion dependent, high affinity carnitine transporter.
Involved in the active cellular uptake of carnitine.
Transports one sodium ion with one molecule of carnitine.
Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium.
Molecular Function Terms:
binding
nucleotide binding
purine nucleotide binding
adenyl nucleotide binding
adenyl ribonucleotide binding
ATP binding
protein binding
protein domain specific binding
transporter activity
substrate-specific transporter activity
substrate-specific transmembrane transporter activity
amine transmembrane transporter activity
amino acid transmembrane transporter activity
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| Human Disease Association |
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Defects in SLC22A5 are the cause of systemic primary carnitine deficiency (CDSP) [MIM:212140].
CDSP is an autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport.
Present early in life with hypoketotic hypoglycemia and acute metabolic decompensation, or later in
life with skeletal myopathy or cardiomyopathy.
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1 ATGCGGGACTACGACGACATGGTGGCCTTCCTGGGCGAGTGGGGCCCCTTCCAGCGGCTG
61 GTCTTCTTCCTGCTCAGCGCCAGCATCATCCCCAACGGCTTCAACGGCCTCTCCGCCGTC
121 TTCCTGGCCGGCATCCCCGAGCACCGCTGCCACATCCCGGCGGGGGCCAACCTGAGCGCG
181 GCGTGGCTCAACGCGAGCGTCCCACTGGAGGAGCGTGGCGGGAAGGTGGTGGCCCAGCGG
241 TGCCGGCGCTACAGCCTCCGCGCCCTCAGCAACCTCTCCGCCCAGGGGCTGCTCCCGGGA
301 GACGTGGACCTGGCCGCCCTCGAGCAGGAGCCCTGCCTCGACGGCTGGGACTACAGCACC
361 GAGCCCTACCTTTCCACCATCGTCAGCCAGTGGGATCTTGTCTGTGAGAACGACTGGAAA
421 ACACCTCTAACTACCTCTTTGTTTTTTGTGGGTGTACTGTTTGGATCCTTTGTATCTGGA
481 CAGATGTCAGACAGATTTGGTAGGAAGAATGTTCTGTTTGCAACCATGGGAGTCCAGACT
541 GGCTTTGGCATCATCCAGGTCTTCTCAACAAGTTGGGAGATGTTTTCAGTCCTCTTTGTC
601 ATTGTTGGAATGGGGCAGATCTCTAATTATGTGGCAGCATTTGTACTAGGCACAGAAATT
661 CTCGGCAGCTCAATCCGTATTATATACTGCACTTTAGGTGTTTGTCTGTTTTATGCCTTG
721 GGCTACATGTTGCTGCCACTGACTGCTTACTTCCTCCGAGATTGGCGGATGCTGCTCTTG
781 GCCCTTACCTTGCCGGGGCTGCTGTACATTCCTCTGTGGTGGTTCATCCCTGAATCCCCT
841 CGATGGCTGCTCTCTCAAGGAAGGCTTGAGGAAGCAGAAAACATTATTCGGAAGGCTGCC
901 CAAAAGAATGGTGTTACAGCTCCAGAAGTAATATTTGATCCCTCTGAGTTACAAGACTTG
961 ACAACCCGGGACCAACAAACATACAGCATTTTGGACCTGGTGAAGAGTCAGAATATCCGC
1021 TGTATCACTATTATGTGTGTAATTTTATGGATGGTCATTGCCATAGGATACTTTGGCCTC
1081 TCTTTGGACACTCCTAACTTGCATGGAGACATCTATCTCAATTGCTTCCTTTCGGCAGTA
1141 ATCGAAGTCCCAGCTTATATCATCTCTTGGCTGCTCCTTCAATATTTTCCCCGGCGATAT
1201 TCAATGGCAGCAGTCTTGTTTTTAGGAGGCTGTGTCCTGCTCTTCGTTCAGTTGGTGCCT
1261 ACATACCTCGGCATACTATCCATTGTTCTGGTAATGACTGGAAAGTTTGGGATCACGGCT
1321 GCCTTCTCAATGGTTTATGTGTATACGGCTGAACTGTACCCAACCGTGGTGAGGAACATG
1381 GGAGTTGGTGCCAGTTCCATGGCCTCCAGAATTGGAAGCATCCTATCACCTTACTTTGTA
1441 TATCTTGGGGCCTATGACAGGTTTCTTCCCTACATTTTAATGGGAAGCTTGACAGTACTT
1501 ACAGGAATCCTCACTCTGTTTCTTCCAGAGAGTTTTGGGACACCACTCCCAGATACCATA
1561 GATCAAATGCTAAGGATTAAAGGAATTAAATACAGAAATACTCCCAAAAGCCAAAAGAAA
1621 ACAAAGGAAGAAGAAAATACAGTAATTCTAAAAACTACATCTTTCTGA
| Predicted Protein Product |
MRDYDDMVAFLGEWGPFQRLVFFLLSASIIPNGFNGLSAVFLAGIPEHRCHIPAGANLSA
AWLNASVPLEERGGKVVAQRCRRYSLRALSNLSAQGLLPGDVDLAALEQEPCLDGWDYST
EPYLSTIVSQWDLVCENDWKTPLTTSLFFVGVLFGSFVSGQMSDRFGRKNVLFATMGVQT
GFGIIQVFSTSWEMFSVLFVIVGMGQISNYVAAFVLGTEILGSSIRIIYCTLGVCLFYAL
GYMLLPLTAYFLRDWRMLLLALTLPGLLYIPLWWFIPESPRWLLSQGRLEEAENIIRKAA
QKNGVTAPEVIFDPSELQDLTTRDQQTYSILDLVKSQNIRCITIMCVILWMVIAIGYFGL
SLDTPNLHGDIYLNCFLSAVIEVPAYIISWLLLQYFPRRYSMAAVLFLGGCVLLFVQLVP
TYLGILSIVLVMTGKFGITAAFSMVYVYTAELYPTVVRNMGVGASSMASRIGSILSPYFV
YLGAYDRFLPYILMGSLTVLTGILTLFLPESFGTPLPDTIDQMLRIKGIKYRNTPKSQKK
TKEEENTVILKTTSF
| Protein Alignment to Mouse |
sp|Q9Z0E8|S22A5_MOUSE Solute carrier family 22 member 5 OS=Mus musculus
GN=Slc22a5 PE=1 SV=1
MGI:1329012 Slc22a5 solute carrier family 22
(organic cation transporter), member 5 (Chr 11)
Length = 557
Score = 1956 (693.6 bits), Expect = 7.8e-203, P = 7.8e-203
Identities = 368/557 (66%), Positives = 433/557 (77%)
Query: 1 MRDYDDMVAFLGEWGPFQRLVFFLLSASIIPNGFNGLSAVFLAGIPEHRCHIPAGANLSA 60
MRDYD++ AFLGEWGPFQRL+FFLLSASIIPNGFNG+S VFLAG PEHRC +P NLS+
Sbjct: 1 MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFNGMSIVFLAGTPEHRCLVPHTVNLSS 60
Query: 61 AWLNASVPLEERGGKVVAQRCRRYSLRALSNLSAQGLLPG-DVDLAALEQEPCLDGWDYS 119
AW N S+PLE + G+ V Q+CRRY L ++N S GL PG DVDL LEQE CLDGW+Y
Sbjct: 61 AWRNHSIPLETKDGRQVPQKCRRYRLATIANFSELGLEPGRDVDLEQLEQESCLDGWEYD 120
Query: 120 TEPYLSTIVSQWDLVCENDWKTPLTTXXXXXXXXXXXXXXXQMSDRFGRKNVLFATMGVQ 179
+ +LSTIV++WDLVC++DWK PLTT Q+SDRFGRKNVLF TMG+Q
Sbjct: 121 KDVFLSTIVTEWDLVCKDDWKAPLTTSLFFVGVLMGSFISGQLSDRFGRKNVLFLTMGMQ 180
Query: 180 TGFGIIQVFSTSWEMFSVLFVIVGMGQISNYVAAFVLGTEILGSSIRIIYCTLGVCLFYA 239
TGF +QVFS ++EMF+VLFV+VGMGQISNYVAAFVLGTEIL SIRII+ TLGVC+FYA
Sbjct: 181 TGFSFLQVFSVNFEMFTVLFVLVGMGQISNYVAAFVLGTEILSKSIRIIFATLGVCIFYA 240
Query: 240 LGYMLLPLTAYFLRDWRMXXXXXXXXXXXXXXXWWFIPESPRWLLSQGRLEEAENIIRKA 299
G+M+LPL AYF+RDWRM WWFIPESPRWL+SQGR++EAE IIRKA
Sbjct: 241 FGFMVLPLFAYFIRDWRMLLLALTVPGVLCGALWWFIPESPRWLISQGRIKEAEVIIRKA 300
Query: 300 AQKNGVTAPEVIFDPSELQDLTTRDQQTYSILDLVKSQNIRCITIMCVILWMVIAIGYFG 359
A+ NG+ AP IFDPSELQDL + Q + I DL++++NIR ITIM +ILW+ I++GYFG
Sbjct: 301 AKINGIVAPSTIFDPSELQDLNSTKPQLHHIYDLIRTRNIRVITIMSIILWLTISVGYFG 360
Query: 360 LSLDTPNLHGDIYLNCFLSAVIEVPAYIISWLLLQYFPRRYSMAAXXXXXXXXXXXXXXX 419
LSLDTPNLHGDIY+NCFL A +EVPAY+++WLLLQY PRRYS++A
Sbjct: 361 LSLDTPNLHGDIYVNCFLLAAVEVPAYVLAWLLLQYLPRRYSISAALFLGGSVLLFMQLV 420
Query: 420 PTYLGILSIVLVMTGKFGITAAFSMVYVYTAELYPTVVRNMGVGASSMASRIGSILSPYF 479
P+ L LS LVM GKFGIT+A+SMVYVYTAELYPTVVRNMGVG SS ASR+GSILSPYF
Sbjct: 421 PSELFYLSTALVMVGKFGITSAYSMVYVYTAELYPTVVRNMGVGVSSTASRLGSILSPYF 480
Query: 480 VYLGAYDRFLPYILMGSLTVLTGILTLFLPESFGTPLPDTIDQMLRIKGIKYRNTPKSQK 539
VYLGAYDRFLPYILMGSLT+LT ILTLF PESFG PLPDTIDQMLR+KGIK +
Sbjct: 481 VYLGAYDRFLPYILMGSLTILTAILTLFFPESFGVPLPDTIDQMLRVKGIKQWQIQSQTR 540
Query: 540 KTKE-EENTVILKTTSF 555
K+ EE+ +LK+T+F
Sbjct: 541 MQKDGEESPTVLKSTAF 557
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