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| Gene Model: Slc6a4 |
| Nomenclature | Genomic Location | ||
| Symbol | Slc6a4 | Chromosome | 1 |
| Name | Sodium-dependent serotonin transporter | Linkage map | unknown |
| Species | Dracomimus familiaris | Genome Coordinates | Chr1: 40 Mbp |
| Molecular Function |
|
Serotonin transporter whose primary function in the central nervous system involves the regulation of serotonergic signaling via transport of serotonin molecules from the synaptic cleft back into the pre-synaptic terminal for re-utilization. Plays a key role in mediating regulation of the availability of serotonin to other receptors of serotonergic systems. Terminates the action of serotonin and recycles it in a sodium-dependent manner. Molecular Function Terms: binding
enzyme regulator activity
transporter activity
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| Human Disease Association |
|
Polymorphism: A polymorphism in the promoter region (5-HTT gene-linked polymorphic region, 5-HTTLPR) is located approximately 1 kb upstream of the transcription initiation site and is composed of 16 repeat elements. The polymorphism consists of a 44-bp insertion or deletion involving repeat elements 6 to 8. The short allele is associated with lower transcriptional efficiency of the promoter compared with the long allele. Over half of the Caucasian population has a short allele. Individuals with one or two copies of the short allele exhibit more depressive symptoms, diagnosable depression and suicidality in relation to stressful life events than individuals homozygous for the long allele. The polymorphism Val-425 seems to be linked to a susceptibility to obsessive-compulsive disorder (OCD) [MIM:164230]. Genetic variations in SLC6A4 determine the genetic susceptibility to alcoholism [MIM:103780]. |
| Predicted Transcript |
1 ATGGAGAAAACAAGCCATGAGACACAGCCTCTCACATCTCCAAAGGAGCCCTCGAATTGC
61 GTTGAAGAGGGGGACTGCGCAGGCAATGGACTCCTACGCAAGGATGCCAAGCCAGCATTG
121 CCGCTGGCGGAAGAGACAGACAGAGTGCCCTTTGGCCAGGCAGACAAAGGGGCAGCCAGC
181 CCCATCTCCAATGGATTTTCAGGGGCTCAGAGCCCAAGCTCTTTCAATGTGGCCGGGGGC
241 AATGAGGGGACGCCTTCGGTCACCCCGGTGGCCATGACCACCCTGACCACCAACACTAAC
301 ACTACCACCACCACCTCCATCTTGTGCGTGGTGGATGGCCAGCAGCAGCTGGAGTTGGGT
361 GAGCGGGAAACCTGGAGCAAGAAAATGGACTTTCTCCTCTCGGTGATCGGATATGCCGTG
421 GACCTGGGCAATGTCTGGCGCTTCCCTTACATCTGTTACCAAAATGGAGGAGGGGCGTTC
481 CTCCTGCCGTACACGATCATGGCCATTTTTGGAGGCATCCCACTCTTCTACATGGAGCTG
541 GCGCTGGGACAGTATCACCGGAATGGCTGCATTTCGATATGGAGGAAAATCTGCCCCATT
601 TTCAAAGGGATTGGCTATGCCATCTGCATCATTGCCTTCTACATTGCTTCATACTATAAC
661 ACTATCATTGCCTGGGCCTTGTACTACCTCATCTCCTCCTTCACGGATGAGCTGCCTTGG
721 ACCAGCTGCACAAACGCTTGGAACACCAAGAACTGCACCAACTATTTCTCCAACCGGAGC
781 ATCGCCTGGACGGACAGCTCCATCTCTCCAGCAGAAGAATTTTATACTCGGCATGTTCTC
841 CAGGTGCATCGAGCTAAGGGGCTGGACGACCTAGGCGGCATCAGCTGGCAGCTCACCCTC
901 TGCTTGCTCTTCATCTTCACCATCGTCTATTTCAGCATCTGGAAAGGGGTCAAAACGTCT
961 GGAAAGGTAGTGTGGGTGACAGCCACCTTCCCTTACATCATCCTCTTCATCCTTTTAATA
1021 CGGGGTGCCACTTTGCCCGGAGCTTGGAGAGGAGTGCTCTACTACTTGAAGCCGGACTGG
1081 CAGAAACTTCTTTCAACAGAGGTATGGGTGGACGCTGCTGCTCAGATCTTCTTCTCCCTT
1141 GGTCCTGGCTTTGGGGTGCTCCTTGCCTTTGCGAGCTACAACAAGTTTCACAACAACTGC
1201 TACCAAGATGCTCTGGTTACCAGTGCTGTGAACTGTATGACAAGTTTCATCTCCGGTTTT
1261 GTCATCTTCACTGTTCTTGGCTACATGGCAGAGATGAGGAATGAAGAGGTCTCAGAAGTT
1321 GCCAAAGACACTGGGCCCAGCCTCCTCTTCATCACTTATGCAGAGGCCATCGCAAACATG
1381 CCTGCCTCAACCTTCTTTGCCATCATCTTCTTCCTGATGCTGATCACTTTGGGCCTGGAC
1441 AGTACGTTTGCCGGGCTGGAAGGGGTGATCACTGCTGTCCTGGACGAATTCCCCCACGTT
1501 TGGAGCAAACGCCGAGAAATCTTTGCGCTGGGTTTCATTGTGATCTGCTTCATGGGTGCC
1561 CTCTCCACGCTGACCTTTGGTGGTGCATATGTGGTGAAGCTGTTTGAGGAATATGCCACA
1621 GGCCCGGCGCTGATAGCCGTGGTATTTCTGGAATCCATTGCAGTGTCTTGGTTTTATGGT
1681 GTGGCTCAGTTTTCCAGGGATGTAAAGGAGATGCTTGGATTCAGCCCTGGATGGTACTGG
1741 AGGATCTGTTGGGTAGCCATCAGCCCAATCTTTCTCTTGTTTATCATTTGCAGCTTCATG
1801 TCCAGCGTTCCAGAACTCCGCCTTTTCGATTACACTTATCCCTACTGGACCATGGTGCTG
1861 GGTTACTGCATCGGGACGTCGTCTTTTATCTGCATTCCTGCCTATATGGTTTATCGGCTG
1921 GCAACTACTCCAGGGACACTCAAAGAGCGTATTCTAAAAAGCATCACGCCAGAAACAGGC
1981 ACTGAGATTCCCTTTGGCGACATCCGTATGAATGCCGTCTAA
| Predicted Protein Product |
MEKTSHETQPLTSPKEPSNCVEEGDCAGNGLLRKDAKPALPLAEETDRVPFGQADKGAAS PISNGFSGAQSPSSFNVAGGNEGTPSVTPVAMTTLTTNTNTTTTTSILCVVDGQQQLELG ERETWSKKMDFLLSVIGYAVDLGNVWRFPYICYQNGGGAFLLPYTIMAIFGGIPLFYMEL ALGQYHRNGCISIWRKICPIFKGIGYAICIIAFYIASYYNTIIAWALYYLISSFTDELPW TSCTNAWNTKNCTNYFSNRSIAWTDSSISPAEEFYTRHVLQVHRAKGLDDLGGISWQLTL CLLFIFTIVYFSIWKGVKTSGKVVWVTATFPYIILFILLIRGATLPGAWRGVLYYLKPDW QKLLSTEVWVDAAAQIFFSLGPGFGVLLAFASYNKFHNNCYQDALVTSAVNCMTSFISGF VIFTVLGYMAEMRNEEVSEVAKDTGPSLLFITYAEAIANMPASTFFAIIFFLMLITLGLD STFAGLEGVITAVLDEFPHVWSKRREIFALGFIVICFMGALSTLTFGGAYVVKLFEEYAT GPALIAVVFLESIAVSWFYGVAQFSRDVKEMLGFSPGWYWRICWVAISPIFLLFIICSFM SSVPELRLFDYTYPYWTMVLGYCIGTSSFICIPAYMVYRLATTPGTLKERILKSITPETG TEIPFGDIRMNAV
| Protein Alignment to Mouse |
sp|Q60857|SC6A4_MOUSE Sodium-dependent serotonin transporter OS=Mus musculus
GN=Slc6a4 PE=1 SV=3
Length = 630
Score = 2579 (912.9 bits), Expect = 1.2e-275, Sum P(2) = 1.2e-275
Identities = 465/558 (83%), Positives = 511/558 (91%)
Query: 116 QLELGERETWSKKMDFLLSVIGYAVDLGNVWRFPYICYQNGGGAFLLPYTIMAIFGGIPL 175
++ GERETW KKMDFLLSVIGYAVDLGN+WRFPYICYQNGGGAFLLPYTIMAIFGGIPL
Sbjct: 73 EIHQGERETWGKKMDFLLSVIGYAVDLGNIWRFPYICYQNGGGAFLLPYTIMAIFGGIPL 132
Query: 176 FYMELALGQYHRNGCISIWRKICPIFKGIGYAICIIAFYIASYYNTIIAWALYYLISSFT 235
FYMELALGQYHRNGCISIWRKICPIFKGIGYAICIIAFYIASYYNTIIAWALYYLISSFT
Sbjct: 133 FYMELALGQYHRNGCISIWRKICPIFKGIGYAICIIAFYIASYYNTIIAWALYYLISSFT 192
Query: 236 DELPWTSCTNAWNTKNCTNYFSNRSIAWTDSSISPAEEFYTRHVLQVHRAKGLDDLGGIS 295
D+LPWTSC N+WNT NCTNYF+ +I WT S SPAEEFY RHVLQ+H++KGL DLG IS
Sbjct: 193 DQLPWTSCKNSWNTGNCTNYFAQDNITWTLHSTSPAEEFYLRHVLQIHQSKGLQDLGTIS 252
Query: 296 WQLTLCLLFIFTIVYFSIWKGVKTSGKVVWVTATFPYIILFILLIRGATLPGAWRGVLYY 355
WQL LC++ IFTI+YFSIWKGVKTSGKVVWVTATFPYI+L +LL+RGATLPGAWRGV++Y
Sbjct: 253 WQLALCIMLIFTIIYFSIWKGVKTSGKVVWVTATFPYIVLSVLLVRGATLPGAWRGVVFY 312
Query: 356 LKPDWQKLLSTEVWVDAAAQIFFSLGPGFGVLLAFASYNKFHNNCYQDALVTSAVNCMTS 415
LKP+WQKLL T VWVDAAAQIFFSLGPGFGVLLAFASYNKF+NNCYQDALVTS VNCMTS
Sbjct: 313 LKPNWQKLLETGVWVDAAAQIFFSLGPGFGVLLAFASYNKFNNNCYQDALVTSVVNCMTS 372
Query: 416 FISGFVIFTVLGYMAEMRNEEVSEVAKDTGPSLLFITYAEAIANMPASTFFAIIFFLMLI 475
F+SGFVIFTVLGYMAEMRNE+VSEVAKD GPSLLFITYAEAIANMPASTFFAIIFFLMLI
Sbjct: 373 FVSGFVIFTVLGYMAEMRNEDVSEVAKDAGPSLLFITYAEAIANMPASTFFAIIFFLMLI 432
Query: 476 TLGLDSTFAGLEGVITAVLDEFPHVWSKRREIFALGFIVICFMGALSTLTFGGAYVVKLF 535
TLGLDSTFAGLEGVITAVLDEFPH+W+KRRE F L ++ C +G+L TLT GGAYVV L
Sbjct: 433 TLGLDSTFAGLEGVITAVLDEFPHIWAKRREWFVLIVVITCILGSLLTLTSGGAYVVTLL 492
Query: 536 EEYATGPALIAVVFLESIAVSWFYGVAQFSRDVKEMLGFSPGWYWRICWVAISPIFLLFI 595
EEYATGPA++ V +E++ VSWFYG+ QF DVKEMLGFSPGW+WRICWVAISP+FLLFI
Sbjct: 493 EEYATGPAVLTVALIEAVVVSWFYGITQFCSDVKEMLGFSPGWFWRICWVAISPLFLLFI 552
Query: 596 ICSFMSSVPELRLFDYTYPYWTMVLGYCIGTSSFICIPAYMVYRLATTPGTLKERILKSI 655
ICSF+ S P+LRLF Y YP+W+++LGYCIGTSS ICIP Y++YRL +TPGTLKERI+KSI
Sbjct: 553 ICSFLMSPPQLRLFQYNYPHWSIILGYCIGTSSVICIPIYIIYRLISTPGTLKERIIKSI 612
Query: 656 TPETGTEIPFGDIRMNAV 673
TPET TEIP GDIRMNAV
Sbjct: 613 TPETPTEIPCGDIRMNAV 630
Score = 88 (36.0 bits), Expect = 1.2e-275, Sum P(2) = 1.2e-275
Identities = 32/85 (37%), Positives = 40/85 (47%)
Query: 7 ETQPLTSPKEPSNCVEEGDCAGNGLLRKDAKPALPLAEETDRVPFGQADKGAASPISNGF 66
ET PL S K S C ++ DC NG+L+K +P P ADK ISNG+
Sbjct: 2 ETTPLNSQKVLSECKDKEDCQENGVLQK----GVP-------TP---ADKAEPGQISNGY 47
Query: 67 SGAQSPSSFNVAGGNEGTPSVTPVA 91
S S S+ G+E P TP A
Sbjct: 48 SAVPSTSA-----GDEA-PHSTPAA 66