GABRA1

Gamma-Aminobutyric Acid Type A

Receptor Subunit Alpha 1

[Homo sapiens (human)]

GABRA1

o GABRA1 is a protein coding gene located on Chromosome 5q34

o It encodes a gamma-aminobutyric acid (GABA) receptor,

which is a major inhibitory neurotransmitter

o Mutations in the gene can cause juvenile myoclonic

epilepsy and childhood absence epilepsy type 4

EXONS

Exon 1: (3621:72)

MRKSPGLSDCLWAWILLLSTLTGR

Exon 2: (6966:114)

SYGQPSLQDELKDNTTVFTRILDRLLDGYDNRLRPGLG

Exon 3: (18530:69)

ERVTEVKTDIFVTSFGPVSDHDM

Exon 4: (25927:222)

EYTIDVFFRQSWKDERLKFKGPMTVLRLNNLMASKIWTPDTFFHNGKKSVAHNMTMPNKLLRITEDGTLLYTMR

Exon 5: (28371:82)

LTVRAECPMHLEDFPMDAHACPLKFGS

SplitCodon: Y

Exon 6: (35368:146)

AYTRAEVVYEWTREPARSVVVAEDGSRLNQYDLLGQTVDSGIVQSSTG

Exon 7: (43710:153)

EYVVMTTHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFG

Exon 8: (48478:201)

VTTVLTMTTLSISARNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVNYFTKRGYAWDGKSVVPEK

Exon 9: (49921:309)

PKKVKDPLIKKNNTYAPTATSYTPNLARGDPGLATIAKSATIEPKEVKPETKPPEPKKTFNSVSKIDRLSRIAFPLLFGIFNLVYWATYLNREPQLKA

PTPHQ

EXON 1 MAP

START = 3621

LENGTH = 72

3501 TTCCTGACTT CAAAGCATTC ATCTAAACTG CCTCAGTCAG CCCTGGTGGT 3550

3551 TATAACCTGA TGTTTCTTGC TAGAGACATT GATCTCTACT TATTCTACTT 3600

3601 TTCAGCTGCT CCAGCCCGCG ATGAGGAAAA GTCCAGGTCT GTCTGACTGT 3650

[M R K S P G L S D C

3651 CTTTGGGCCT GGATCCTCCT TCTGAGCACA CTGACTGGAA GAAGGTGGGG 3700

L W A W I L L L S T L T G R]

3701 ACACTTTTTT AAAAATCTGC ATGAAAATTT CTGTAACTTT TCATTTATTT 3750

3751 TATCGGGGGA AGAAAATTGT CCTCAAATGA ATTTATGACT AAGGGAATTC 3800

3801 AGAAAACTTA ACTGCAATAA TTTCCAGCTA AGAATAAAGA GGAGCAGTAT 3850

3851 GAAACAAATC ATTATGTTTG CACGTTAGTT AGAATACAAT TAACAAGCCA 3900

3901 TTGTTAAGAC ATGTATTAAT TCAACATTTA AGTCTTAGAT TGAACTTCTC 3950

3951 ACTGTTCAGT TGGAACTGAA CAAAACGTGC GGTTTCCTAA TTCATAGAAA 4000

4001 AAGTTACCCC AATTAGTGGT TGCATACTGT GTAACCTGAT TTAACAACAA 4050

EXON 2 MAP

START = 6966

LENGTH = 114

6851 TTCAAGTTAA GATTCAGTAG AAACCAAAGT AGAAAAACTG AGAAAGGATT 6900

6901 TATTTGGAAA GAGGTTTTAG TAGAAATGTA TAATTTAGCT ATTGCTTCTC 6950

6951 TTTATGTTTT TTTTCAGCTA TGGACAGCCG TCATTACAAG ATGAACTTAA 7000

[S Y G Q P S L Q D E L K

7001 AGACAATACC ACTGTCTTCA CCAGGATTTT GGACAGACTC CTAGATGGTT 7050

D N T T V F T R I L D R L L D G

7051 ATGACAATCG CCTGAGACCA GGATTGGGAG GTAGGTTGCA TTATTGTATT 7100

Y D N R L R P G L G]

7101 TTTGTTTTAG AGAATAATAT GAGATCTTTA CTATCACAGC CTTAATTTAC 7150

7151 CTCTAAATGG TCAAATAATA AAAATGGTGA CATGTAATTT AATGACAAAT 7200

7201 CTATTTTTAA TGGATCACTC TATGTTAATT CAAGTTACTC TGTAGTTTCA 7250

7251 TATCCATACG TAGTAAAAGG CAGACACAAA CTTCTAATAA TGACACGAAG 7300

7301 CAGATGCTAC ATTTATATGA TAAGCACAGT ACTTTCTGTG TAACGATTTT 7350

EXON 3 MAP

START = 18530

LENGTH = 69

18401 CACAGTGGAC CAATTTTAGA AATAGCTAAT CAAAGACAAT CAATTTCCCA 18450

18451 TTTGGGTGTC AGTATGTGGT GGTGAGATCT AATAAGGACG GTTGACAGAC 18500

18501 ACTCACTCGC CCAATTTCCT GCTTCAACAG AGCGTGTAAC CGAAGTGAAG 18550

[ E R V T E V K

18551 ACTGATATCT TCGTCACCAG TTTCGGACCC GTTTCAGACC ATGATATGGT 18600

T D I F V T S F G P V S D H D M]

18601 AAGTGGACAC TTTATCTTTG CTTTTCTTGA AGAATTTTTA AAATTTAACT 18650

18651 TTTCAAAGAA AAATATAAAC TAAGTTCTTA GGGAGCAACC TGAAAAGTCT 18700

18701 TGGCTATACT TTTGTGTCTT TCTGTGTGTA ATATGTAATA TGTAATATAA 18750

18751 TATTTATACA ATAGAAAAAT ACTCATTTGC ATTCCAGATC AGACCTATTT 18800

18801 CCATGATTTT CAACCACTGC AGTCATCTTT TTTTAAAAAA TATTTTAAAT 18850

18851 GATTGGTTTG CCTTGGTTAA TACCCCACAA GCCATACAGT ATGAGTTATG 18900

18901 TTTCATTTTA GTTAGCAGGC CATGTTGATT CAAGGATGCT GTTTTCAGGC 18950

EXON 4 MAP

START = 25927

LENGTH = 222

25801 TCTAAAAACA TCACCTAGCT AACATTATAC TTCCAAAGTT GCAAAAATTA 25850

25851 TGCACTGTCT GCGTTAGATA TTTGCATTGC AAAATACAGC ACAGTGAACT 25900

25901 CTTCGTCATT TTCCAAAATT ACCTAGGAAT ATACAATAGA TGTATTTTTC 25950

[E Y T I D V F F

25951 CGTCAAAGCT GGAAGGATGA AAGGTTAAAA TTTAAAGGAC CTATGACAGT 26000

R Q S W K D E R L K F K G P M T V

26001 CCTCCGGTTA AATAACCTAA TGGCAAGTAA AATCTGGACT CCGGACACAT 26050

L R L N N L M A S K I W T P D T

26051 TTTTCCACAA TGGAAAGAAG TCAGTGGCCC ACAACATGAC CATGCCCAAC 26100

F F H N G K K S V A H N M T M P N

26101 AAACTCCTGC GGATCACAGA GGATGGCACC TTGCTGTACA CCATGAGGTA 26150

K L L R I T E D G T L L Y T M R]

26151 AGGATGGCTG CACTGCCATT CATGAATGTT TCTGTACTTC ATTCCCTTCC 26200

EXON 5 MAP

START = 28371

LENGTH = 82

28251 ACCCTGCAAT TATGCCTTCT TTGTTAATAT ATTTGCTACA GTTAATAACA 28300

28301 TTCCACTTGT ACTTATCAAG AAGTATCTAA TCTATATGGC TCTTGTTTGT 28350

28351 ATTCTATGTT TCCCTTAAGG CTGACAGTGA GAGCTGAATG TCCGATGCAT 28400

[L T V R A E C P M H

28401 TTGGAGGACT TCCCTATGGA TGCCCATGCT TGCCCACTAA AATTTGGAAG 28450

L E D F P M D A H A C P L K F G S

28451 TTGTGAGTAA ATTTATATGG ACTTTTCTTG ATTGTAAGTC ATTAAGCAAG 28500

28501 AGATCTCTAG CTATATCTGT GAGAAAAACG CGTAGATAAG GGAATCAAGA 28550

28551 AAATTTAAAC AGCAATATAC CACATGGACT TTCCATAAGT AGTGCTCTGT 28600

28601 GACTTCACTT TTTAATGTTG CTTCAAGAGA GAGCTTATTC TTTATCTACT 28650

28651 GAACTAGAAA GCATGGATTA AACTAGTTAT TGAAATAATT CTATTTATGC 28700

28701 TGAATTTGTA TTTATAGAAA AAGAAGTGAA GTATGGATGC TTCTACCTCA 28750

EXON 6 MAP

START = 35368

LENGTH = 146

35251 CCTAGCCTGC CCTCTGGAAC CATGATATAG AAAATATGAA GCTGATGAAA 35300

35301 GGTACCAACT AAATAAGAGA ATTGAAGTGG TAAAATATAT GGATCATTTT 35350

35351 CTACTGTTTC CTTTTAGATG CTTATACAAG AGCAGAAGTT GTTTATGAAT 35400

Y>[ A Y T R A E V V Y E

35401 GGACCAGAGA GCCAGCACGC TCAGTGGTTG TAGCAGAAGA TGGATCACGT 35450

W T R E P A R S V V V A E D G S R

35451 CTAAACCAGT ATGACCTTCT TGGACAAACA GTAGACTCTG GAATTGTCCA 35500

L N Q Y D L L G Q T V D S G I V Q

35501 GTCAAGTACA GGTAAGTACG ATTTTGTTAC TTCAGTTATG GAGGAAGAAG 35550

S S T G]

35551 AAGAATAATA TTTTGTGAGA ACTCAATGAA TCATTCAGTA ACACAAGTCT 35600

35601 AGGAGAGAGA ACATTTCACT AAATTGGGCA TCAGTTGAGC TGGGAACTAA 35650

35651 TGTAAACTCG GTAGACCTGT GACCTTGGAC ATGTCATTTA ATGCCTCTTG 35700

EXON 7 MAP

START = 43710

LENGTH = 153

43601 GAAAGGATGT GTCTAATTCC CAGACCTTTG GTACTCATAG TAAACCTCAG 43650

43651 AGATTACCTT TTTCTAAAGT CAAATTGCTC ATCTTTCTTG TGTGTTTTAC 43700

43701 TTCTCAGGAG AATATGTTGT TATGACCACT CATTTCCACT TGAAGAGAAA 43750

[ E Y V V M T T H F H L K R K

43751 GATTGGCTAC TTTGTTATTC AAACATACCT GCCATGCATA ATGACAGTGA 43800

I G Y F V I Q T Y L P C I M T V

43801 TTCTCTCACA AGTCTCCTTC TGGCTCAACA GAGAGTCTGT ACCAGCAAGA 43850

I L S Q V S F W L N R E S V P A R

43851 ACTGTCTTTG GTAAGTCCCA ATCAAGATAC ATACGCAAGG AAGGGTATGG 43900

T V F G]

43901 AAGACAAGTT ATGTCATATC TGTGACACTG CAAAGAGAAA TAAAAAAAAA 43950

43951 TATACACTCA AATATTAAGT TCATATAACA GAAAGTTTCA AGGAATTGCC 44000

44001 ACTCTCATTA TGGTATATAT TTTTTAAAAC TATTTAACTA GCAAGCTGTT 44050

EXON 8 MAP

START = 48478

LENGTH = 201

48351 GATGGTCTAG AAACCACATT CTGTCATGAT ACTGTTGATT TCCTTTTGTT 48400

48401 CAAGTAGGCT GTCCCATCAT GATGAAATTT CACAGTATGA ACTGGCATCA 48450

48451 TGTATGTTTT TTTTTTTCTT TACAGGAGTA ACAACTGTGC TCACCATGAC 48500

[V T T V L T M T

48501 AACATTGAGC ATCAGTGCCA GAAACTCCCT CCCTAAGGTG GCTTATGCAA 48550

T L S I S A R N S L P K V A Y A

48551 CAGCTATGGA TTGGTTTATT GCCGTGTGCT ATGCCTTTGT GTTCTCAGCT 48600

T A M D W F I A V C Y A F V F S A

48601 CTGATTGAGT TTGCCACAGT AAACTATTTC ACTAAGAGAG GTTATGCATG 48650

L I E F A T V N Y F T K R G Y A W

48651 GGATGGCAAA AGTGTGGTTC CAGAAAAGGT AAATGCTTTA ATGGTCACTG 48700

D G K S V V P E K]

48701 TAGTACATCA ATATTATGTC TCTTTAAACC TATGAAATGA GATGTTTTGG 48750

EXON 9 MAP

START = 49921

LENGTH = 309

49901 ATTGCTCTTT CTTTCTACAG CCAAAGAAAG TAAAGGATCC TCTTATTAAG 49950

[P K K V K D P L I K

49951 AAAAACAACA CTTACGCTCC AACAGCAACC AGCTACACCC CTAATTTGGC 50000

K N N T Y A P T A T S Y T P N L A

50001 CAGGGGCGAC CCGGGCTTAG CCACCATTGC TAAAAGTGCA ACCATAGAAC 50050

R G D P G L A T I A K S A T I E

50051 CTAAAGAGGT CAAGCCCGAA ACAAAACCAC CAGAACCCAA GAAAACCTTT 50100

P K E V K P E T K P P E P K K T F

50101 AACAGTGTCA GCAAAATTGA CCGACTGTCA AGAATAGCCT TCCCGCTGCT 50150

N S V S K I D R L S R I A F P L L

50151 ATTTGGAATC TTTAACTTAG TCTACTGGGC TACGTATTTA AACAGAGAGC 50200

F G I F N L V Y W A T Y L N R E

50201 CTCAGCTAAA AGCCCCCACA CCACATCAAT AGATCTTTTA CTCACATTCT 50250

P Q L K A P T P H Q]

SOURCES

PRE mRNA LINK:

https://www.ncbi.nlm.nih.gov/nuccore/NC_000005.10?report=fasta&from=161847191&

to=161899971

mRNA LINK:

https://www.ncbi.nlm.nih.gov/nuccore/NM_000806.5?report=fasta

PROTEIN LINK:

https://www.ncbi.nlm.nih.gov/protein/NP_000797.2?report=fasta