| Entry |
|
| Gene name |
LCT, LAC, LPH, LPH1
|
| Definition |
lactase (EC:3.2.1.108 3.2.1.62)
|
| Orthology |
|
| Organism |
|
| Pathway |
| Galactose metabolism | | Metabolic pathways | | Carbohydrate digestion and absorption |
|
| Disease |
| Congenital lactase deficiency |
|
| Class |
Metabolism; Carbohydrate metabolism; Galactose metabolism [PATH: hsa00052]
Organismal Systems; Digestive system; Carbohydrate digestion and absorption [PATH: hsa04973]
 |
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
| Position |
2q21
|
| AA seq |
1927 aa  
MELSWHVVFIALLSFSCWGSDWESDRNFISTAGPLTNDLLHNLSGLLGDQSSNFVAGDKD
MYVCHQPLPTFLPEYFSSLHASQITHYKVFLSWAQLLPAGSTQNPDEKTVQCYRRLLKAL
KTARLQPMVILHHQTLPASTLRRTEAFADLFADYATFAFHSFGDLVGIWFTFSDLEEVIK
ELPHQESRASQLQTLSDAHRKAYEIYHESYAFQGGKLSVVLRAEDIPELLLEPPISALAQ
DTVDFLSLDLSYECQNEASLRQKLSKLQTIEPKVKVFIFNLKLPDCPSTMKNPASLLFSL
FEAINKDQVLTIGFDINEFLSCSSSSKKSMSCSLTGSLALQPDQQQDHETTDSSPASAYQ
RIWEAFANQSRAERDAFLQDTFPEGFLWGASTGAFNVEGGWAEGGRGVSIWDPRRPLNTT
EGQATLEVASDSYHKVASDVALLCGLRAQVYKFSISWSRIFPMGHGSSPSLPGVAYYNKL
IDRLQDAGIEPMATLFHWDLPQALQDHGGWQNESVVDAFLDYAAFCFSTFGDRVKLWVTF
HEPWVMSYAGYGTGQHPPGISDPGVASFKVAHLVLKAHARTWHHYNSHHRPQQQGHVGIV
LNSDWAEPLSPERPEDLRASERFLHFMLGWFAHPVFVDGDYPATLRTQIQQMNRQCSHPV
AQLPEFTEAEKQLLKGSADFLGLSHYTSRLISNAPQNTCIPSYDTIGGFSQHVNHVWPQT
SSSWIRVVPWGIRRLLQFVSLEYTRGKVPIYLAGNGMPIGESENLFDDSLRVDYFNQYIN
EVLKAIKEDSVDVRSYIARSLIDGFEGPSGYSQRFGLHHVNFSDSSKSRTPRKSAYFFTS
IIEKNGFLTKGAKRLLPPNTVNLPSKVRAFTFPSEVPSKAKVVWEKFSSQPKFERDLFYH
GTFRDDFLWGVSSSAYQIEGAWDADGKGPSIWDNFTHTPGSNVKDNATGDIACDSYHQLD
ADLNMLRALKVKAYRFSISWSRIFPTGRNSSINSHGVDYYNRLINGLVASNIFPMVTLFH
WDLPQALQDIGGWENPALIDLFDSYADFCFQTFGDRVKFWMTFNEPMYLAWLGYGSGEFP
PGVKDPGWAPYRIAHAVIKAHARVYHTYDEKYRQEQKGVISLSLSTHWAEPKSPGVPRDV
EAADRMLQFSLGWFAHPIFRNGDYPDTMKWKVGNRSELQHLATSRLPSFTEEEKRFIRAT
ADVFCLNTYYSRIVQHKTPRLNPPSYEDDQEMAEEEDPSWPSTAMNRAAPWGTRRLLNWI
KEEYGDIPIYITENGVGLTNPNTEDTDRIFYHKTYINEALKAYRLDGIDLRGYVAWSLMD
NFEWLNGYTVKFGLYHVDFNNTNRPRTARASARYYTEVITNNGMPLAREDEFLYGRFPEG
FIWSAASAAYQIEGAWRADGKGLSIWDTFSHTPLRVENDAIGDVACDSYHKIAEDLVTLQ
NLGVSHYRFSISWSRILPDGTTRYINEAGLNYYVRLIDTLLAASIQPQVTIYHWDLPQTL
QDVGGWENETIVQRFKEYADVLFQRLGDKVKFWITLNEPFVIAYQGYGYGTAAPGVSNRP
GTAPYIVGHNLIKAHAEAWHLYNDVYRASQGGVISITISSDWAEPRDPSNQEDVEAARRY
VQFMGGWFAHPIFKNGDYNEVMKTRIRDRSLAAGLNKSRLPEFTESEKRRINGTYDFFGF
NHYTTVLAYNLNYATAISSFDADRGVASIADRSWPDSGSFWLKMTPFGFRRILNWLKEEY
NDPPIYVTENGVSQREETDLNDTARIYYLRTYINEALKAVQDKVDLRGYTVWSAMDNFEW
ATGFSERFGLHFVNYSDPSLPRIPKASAKFYASVVRCNGFPDPATGPHACLHQPDAGPTI
SPVRQEEVQFLGLMLGTTEAQTALYVLFSLVLLGVCGLAFLSYKYCKRSKQGKTQRSQQE
LSPVSSF |
| NT seq |
5784 nt  +upstreamnt +downstreamnt
atggagctgtcttggcatgtagtctttattgccctgctaagtttttcatgctgggggtca
gactgggagtctgatagaaatttcatttccaccgctggtcctctaaccaatgacttgctg
cacaacctgagtggtctcctgggagaccagagttctaactttgtagcaggggacaaagac
atgtatgtttgtcaccagccactgcccactttcctgccagaatacttcagcagtctccat
gccagtcagatcacccattataaggtatttctgtcatgggcacagctcctcccagcagga
agcacccagaatccagacgagaaaacagtgcagtgctaccggcgactcctcaaggccctc
aagactgcacggcttcagcccatggtcatcctgcaccaccagaccctccctgccagcacc
ctccggagaaccgaagcctttgctgacctcttcgccgactatgccacattcgccttccac
tccttcggggacctagttgggatctggttcaccttcagtgacttggaggaagtgatcaag
gagcttccccaccaggaatcaagagcgtcacaactccagaccctcagtgatgcccacaga
aaagcctatgagatttaccacgaaagctatgcttttcagggcggaaaactctctgttgtc
ctgcgagctgaagatatcccggagctcctgctagaaccacccatatctgcgcttgcccag
gacacggtcgatttcctctctcttgatttgtcttatgaatgccaaaatgaggcaagtctg
cggcagaagctgagtaaattgcagaccattgagccaaaagtgaaagttttcatcttcaac
ctaaaactcccagactgcccctccaccatgaagaacccagccagtctgctcttcagcctt
tttgaagccataaataaagaccaagtgctcaccattgggtttgatattaatgagtttctg
agttgttcatcaagttccaagaaaagcatgtcttgttctctgactggcagcctggccctt
cagcctgaccagcagcaggaccacgagaccacggactcctctcctgcctctgcctatcag
agaatctgggaagcatttgccaatcagtccagggcggaaagggatgccttcctgcaggat
actttccctgaaggcttcctctggggtgcctccacaggagcctttaacgtggaaggaggc
tgggccgagggtgggagaggggtgagcatctgggatccacgcaggcccctgaacaccact
gagggccaagcgacgctggaggtggccagcgacagttaccacaaggtagcctctgacgtc
gccctgctttgcggcctccgggctcaggtgtacaagttctccatctcctggtcccggatc
ttccccatggggcacgggagcagccccagcctcccaggcgttgcctactacaacaagctg
attgacaggctacaggatgcgggcatcgagcccatggccacgctgttccactgggacctg
cctcaggccctgcaggatcatggtggatggcagaatgagagcgtggtggatgccttcctg
gactatgcggccttctgcttctccacatttggggaccgtgtgaagctgtgggtgaccttc
catgagccgtgggtgatgagctacgcaggctatggcaccggccagcaccctcccggcatc
tctgacccaggagtggcctcttttaaggtggctcacttggtcctcaaggctcatgccaga
acttggcaccactacaacagccatcatcgcccacagcagcaggggcacgtgggcattgtg
ctgaactcagactgggcagaacccctgtctccagagaggcctgaggacctgagagcctct
gagcgcttcttgcacttcatgctgggctggtttgcacaccccgtctttgtggatggagac
tacccagccaccctgaggacccagatccaacagatgaacagacagtgctcccatcctgtg
gctcaactccccgagttcacagaggcagagaagcagctcctgaaaggctctgctgatttt
ctgggtctgtcgcattacacctcccgcctcatcagcaacgccccacaaaacacctgcatc
cctagctatgataccattggaggcttctcccaacacgtgaaccatgtgtggccccagacc
tcatcctcttggattcgtgtggtgccctgggggataaggaggctgttgcagtttgtatcc
ctggaatacacaagaggaaaagttccaatataccttgccgggaatggcatgcccataggg
gaaagtgaaaatctctttgatgattccttaagagtagactacttcaatcaatatatcaat
gaggtgctcaaggctatcaaggaagactctgtggatgttcgttcctacattgctcgttcc
ctcattgatggcttcgaaggcccttctggttacagccagcggtttggcctgcaccacgtc
aacttcagcgacagcagcaagtcaaggactcccaggaaatctgcctactttttcactagc
atcatagaaaagaacggtttcctcaccaagggggcaaaaagactgctaccacctaataca
gtaaacctcccctccaaagtcagagccttcacttttccatctgaggtgccctccaaggct
aaagtcgtttgggaaaagttctccagccaacccaagttcgaaagagatttgttctaccac
gggacgtttcgggatgactttctgtggggcgtgtcctcttccgcttatcagattgaaggc
gcgtgggatgccgatggcaaaggccccagcatctgggataactttacccacacaccaggg
agcaatgtgaaagacaatgccactggagacatcgcctgtgacagctatcaccagctggat
gccgatctgaatatgctccgagctttgaaggtgaaggcctaccgcttctctatctcctgg
tctcggattttcccaactgggagaaacagctctatcaacagtcatggggttgattattac
aacaggctgatcaatggcttggtggcaagcaacatctttcccatggtgacattgttccat
tgggacctgccccaggccctccaggatatcggaggctgggagaatcctgccttgattgac
ttgtttgacagctacgcagacttttgtttccagacctttggtgatagagtcaagttttgg
atgacttttaatgagcccatgtacctggcatggctaggttatggctcaggggaatttccc
ccaggggtgaaggacccaggctgggcaccatataggatagcccacgccgtcatcaaagcc
catgccagagtctatcacacgtacgatgagaaatacaggcaggagcagaagggggtcatc
tcgctgagcctcagtacacactgggcagagcccaagtcaccaggggtccccagagatgtg
gaagccgctgaccgaatgctgcagttctccctgggctggtttgctcaccccatttttaga
aacggagactatcctgacaccatgaagtggaaagtggggaacaggagtgaactgcagcac
ttagccacctcccgcctgccaagcttcactgaggaagagaagaggttcatcagggcgacg
gccgacgtcttctgcctcaacacgtactactccagaatcgtgcagcacaaaacacccagg
ctaaacccaccctcctacgaagacgaccaggagatggctgaggaggaggacccttcgtgg
ccttccacggcaatgaacagagctgcgccctgggggacgcgaaggctgctgaactggatc
aaggaagagtatggtgacatccccatttacatcaccgaaaacggagtggggctgaccaat
ccgaacacggaggatactgataggatattttaccacaaaacctacatcaatgaggctttg
aaagcctacaggctcgatggtatagaccttcgagggtatgtcgcctggtctctgatggac
aactttgagtggctaaatggctacacggtcaagtttggactgtaccatgttgatttcaac
aacacgaacaggcctcgcacagcaagagcctccgccaggtactacacagaggtcattacc
aacaacggcatgccactggccagggaggatgagtttctgtacggacggtttcctgagggc
ttcatctggagtgcagcttctgctgcatatcagattgaaggtgcgtggagagcagatggc
aaaggactcagcatttgggacacgttttctcacacaccactgagggttgagaacgatgcc
attggagacgtggcctgtgacagttatcacaagattgctgaggatctggtcaccctgcag
aacctgggcgtgtcccactaccgtttttccatctcctggtctcgcatcctccctgatgga
accaccaggtacatcaatgaagcgggcctgaactactacgtgaggctcatcgatacactg
ctggccgccagcatccagccccaggtgaccatttaccactgggacctaccacagacgctc
caagatgtaggaggctgggagaatgagaccatcgtgcagcggtttaaggagtatgcagat
gtgctcttccagaggctgggagacaaggtgaagttttggatcacgctgaatgagcccttt
gtcattgcttaccagggctatggctacggaacagcagctccaggagtctccaataggcct
ggcactgccccctacattgttggccacaatctaataaaggctcatgctgaggcctggcat
ctgtacaacgatgtgtaccgcgccagtcaaggtggcgtgatttccatcaccatcagcagt
gactgggctgaacccagagatccctctaaccaggaggatgtggaggcagccaggagatat
gttcagttcatgggaggctggtttgcacatcctattttcaagaatggagattacaatgag
gtgatgaagacgcggatccgtgacaggagcttggctgcaggcctcaacaagtctcggctg
ccagaatttacagagagtgagaagaggaggatcaacggcacctatgacttttttgggttc
aatcactacaccactgtcctcgcctacaacctcaactatgccactgccatctcttctttt
gatgcagacagaggagttgcttccatcgcagatcgctcgtggccagactctggctccttc
tggctgaagatgacgccttttggcttcaggaggatcctgaactggttaaaggaggaatac
aatgaccctccaatttatgtcacagagaatggagtgtcccagcgggaagaaacagacctc
aatgacactgcaaggatctactaccttcggacttacatcaatgaggccctcaaagctgtg
caggacaaggtggaccttcgaggatacacagtttggagtgcgatggacaattttgagtgg
gccacaggcttttcagagagatttggtctgcattttgtgaactacagtgacccttctctg
ccaaggatccccaaagcatcagcgaagttctacgcctctgtggtccgatgcaatggcttc
cctgaccccgctacagggcctcacgcttgtctccaccagccagatgctggacccaccatc
agccccgtgagacaggaggaggtgcagttcctggggctaatgctcggcaccacagaagca
cagacagctttgtacgttctcttttctcttgtgcttcttggagtctgtggcttggcattt
ctgtcatacaagtactgcaagcgctctaagcaagggaaaacacaacgaagccaacaggaa
ttgagcccggtgtcttcattctga |