Gene loci information

Transcript annotation

  • This transcript has been annotated as NPC intracellular cholesterol transporter 1.

Parent gene

Gene structure

  • The exon-intron structure of all isoforms are indicated below. CDS regions are colored in green. TSS and TTs that were predicted with CTR-Seq data are indicated in solid circle and squares, respectively. More specific data are shown in the table below.

Chromosome Gene Transcript Category ID Start End
chr_1 g12300 g12300.t2 isoform g12300.t2 22254349 22265620
chr_1 g12300 g12300.t2 exon g12300.t2.exon1 22254349 22254521
chr_1 g12300 g12300.t2 cds g12300.t2.CDS1 22254349 22254521
chr_1 g12300 g12300.t2 exon g12300.t2.exon2 22255261 22255465
chr_1 g12300 g12300.t2 cds g12300.t2.CDS2 22255261 22255465
chr_1 g12300 g12300.t2 exon g12300.t2.exon3 22255535 22258065
chr_1 g12300 g12300.t2 cds g12300.t2.CDS3 22255535 22258065
chr_1 g12300 g12300.t2 exon g12300.t2.exon4 22258132 22258314
chr_1 g12300 g12300.t2 cds g12300.t2.CDS4 22258132 22258314
chr_1 g12300 g12300.t2 exon g12300.t2.exon5 22259041 22259160
chr_1 g12300 g12300.t2 cds g12300.t2.CDS5 22259041 22259160
chr_1 g12300 g12300.t2 exon g12300.t2.exon6 22261099 22261288
chr_1 g12300 g12300.t2 cds g12300.t2.CDS6 22261099 22261288
chr_1 g12300 g12300.t2 exon g12300.t2.exon7 22261357 22261649
chr_1 g12300 g12300.t2 cds g12300.t2.CDS7 22261357 22261649
chr_1 g12300 g12300.t2 exon g12300.t2.exon8 22261838 22262003
chr_1 g12300 g12300.t2 cds g12300.t2.CDS8 22261838 22262003
chr_1 g12300 g12300.t2 exon g12300.t2.exon9 22262074 22262295
chr_1 g12300 g12300.t2 cds g12300.t2.CDS9 22262074 22262295
chr_1 g12300 g12300.t2 exon g12300.t2.exon10 22265561 22265620
chr_1 g12300 g12300.t2 cds g12300.t2.CDS10 22265561 22265620
chr_1 g12300 g12300.t2 TSS g12300.t2 22265942 22265942
chr_1 g12300 g12300.t2 TTS g12300.t2 NA NA

Sequences

>g12300.t2 Gene=g12300 Length=4143
ATGTCCATTAGATTTAAAACAAATTTAATAAATTTCATTCTCATACTTGGATTTTCATTG
GTATTTGGTCAAGCAACAACAACAACGTCGTCAACAGATAATGAGGGACATTGTGTTTGG
CGAGGAATTTGTGCTACTGATCCTCAGAAAAAAAATTGTGCCTATGATGGAAAAGCACTT
CCATTAGACAAAGAGGGTATTACAGAGCTGCAGGAATGGTGCTCGCATTTGATGCCTAAT
TCGAATAATAGTACTGTTTTGACATGCTGTGATATCGAACAGTTGAAAGAATTCAACTCT
CAGATAAAGTTAGCTGCTGCAATTCTAAATCGTTGTCCATCATGCATGAAAAATTTAGCC
AGACATATTTGTGATTTCACCTGTAGTCCGCATCAATCAGATTTTATAAAAGTCAAGAAA
ACTGGAATATCAGAGGACACTAATAAAACATATGTAGATGAGATAGACATTTACATAACA
GAAAAATATTTCAATGGAACATATGACTCATGTAAAAATGTCATCTATCCGTCGAGTGGA
CAACTTGCACTTGATTTAATGTGCGGATCGTGGGGTGCATCAAAATGTTCGCCTGCTAGA
TGGTTCGGTTATATGGGAGACGCTGTCAATAATCCATTTGTTCCATTTCAAATTAACTAT
TTGCCTCAAGATTCATCGAGTAGGAATGATGATATAAAGCCATTAGACTCAAAAGTCGTA
CCATGCAATCAGCCTGTGGATGATAAAACACCAGCCTGTTCATGTGTTGATTGCCAAGCA
TCATGCCCTAAGCCTCCACCACCAGATCCTGTTGTACGACCTTTTATAATTTGGGGTTTT
GACGGATATGCGGTCGTTATGTTTTTCATATTTCTTCTGGGAAGTTTAATATTCATCATG
GGTGCAGGATGCTGCTCAACTTCCGAAACTGATGTGCAAGATGAACCATATTTGCATCAG
CAGATTGGCAGAAGTTTGGCTGACGATAGATTATCGTCTAGTGACATTGCAACCGATCGA
GAAGATTCTCCATTGCAGAGTAAACGTTCGAGCCAATCGTCTGAAAACGATCAAGAATTA
ACAACACATCCGTCAGCAATTGTTGATAATGAACTTGGAGAGGAAAGTGGATATTTCGAG
AAGCTCGGAGCTAAAACAGAGCATGTTCTTGAACAATTTTTCACAGCGTGGGGAACGTGG
TGTGCAAACAATCCATGGAAAGTTTTATTACTCGGTTGTATTTTTATTGCATCCTTGGGT
TTTGGCCTTCTCTTCCTAAATGTCACGACAGATCCAGTTCAACTTTGGGCATCCCCTCAT
TCACGATCACGCATCGAACGAGAATATTTTGATACGCATTTTGGACCTTTCTATAGAATT
GAACAAATTATCATTACTACAAAAGATATTGCTCCTATTGTACATAATACATCAAATGGT
ATAGTTCATTTTGGTCCTGTTTTCAATGACACTTTTCTACTAAAAGTTCGTGAAATTCAA
GAATCAATAAAAAGTATCAAGCTTCAAAATTCTGATGATGATGAAGCACTTTCAAAAATT
TGTTATGCACCATTAAGATCACAATATTTTGAAGAAGATCAAAGTCAAAGTGTTAATGAT
TGTGTAATACAAAGTGTTTGGGGATATTTTAAAGATGATATTGATACTTTTGAAGAAATA
GATACAGATTCTGAAGGCTATACAATCAATTATTTGGATCATCTATTGCAATGCTTTAAT
AATCCTTATAATCCAGATTGTCTTGCACCATATGGTGGAATTGTTGATCCTGCTGTTGCT
TTTGGTGGTTTCTTAAAACCAGGAGATACATTATCGAAAAATCCAAATTATGAAAATGCA
ACATCAGTAATTCTCACATTTTTAGTCAACAATAATCACGACAAAACTAAGCTCAATGAT
ACACTAAATTGGGAAGAAATGTACGTCAAAGTTATGAAAAATTGGACAACAAATGCAAAT
ATAAGCTTTATGGATATTGCATTCACATCAGAACGTTCAATTGAGGACGAATTGTATAGA
GAATCGAAATCTGATATTTCAACAATTCTCGTGTCATATCTGCTGATGTTTGCCTACATT
GCTGTGTCATTAGGTCATGTAGATGTATGTAATCGAGCTTTGATTGACAGCAAAATTACA
CTTGGAATGGGTGGTGTGATCATTGTTCTTGCATCGGTCGTTGCCTCTGGTGGATTTTTT
GGATATATCGGTGTACCTGCAACTTTGATTATTTTCGAAGTTATTCCATTCCTTGTACTT
GCTGTTGGTGTCGATAACATTTTCATTCTTGTTCAAACACATCAACGTGATCAAAAGCGT
CCCAATGAAACTCATGCTGAACATATAGGAAGAATTTTAGGAAAAGTAGGACCATCAATT
TTACTTTCATCGATTAGCGAGTCTACTTGCTTTTTCCTTGGTGGACTGTCTGACATGCCC
GCGGTCAAATGCTTTGCCTTATATGCAGGAATGGCTCTATTTTTCGATTTTCTTCTTCAA
ATTACATGTTTCGTGAGTTTATTAGCTTTAGACACTCAACGACAAGCAGAAAATCGATGG
GATATTCTTTGCTTCATGCGAGGCTCAAAGAAAGATTCAGGACAGATTACGACATCGAAA
GAAGGAGTGCTTTATAAATTTTTCAAAGTTATTTATGTGCCTTTTTTGATGAAAAAAGTA
GTTCGAATAACAGTGATGGTAGTTTTCTATGGGTGGCTTTGTTCGAGTATTGCTGTTGCA
CCGCACATTGACATCGGTCTCGACCAAGAGCTCTCAATGCCAAAGGATTCATTTGTGCTT
AAATATTTCCAATATCTGCAAAGCTACTTGTCTGTTGGACCGCCGACTTATTTTGTTCTT
AAAAATGGATTAAATTTTTCAAATACTCAAGATCAGAATCTTATCTGTGGTGGACTTTAT
TGTAATTCAGACAGTTTGTACACGCAAATTTACAGTTCATCAAAACTACCTGAAACAACT
TTCATTGCACGTCCAGCAAGTAGCTGGATTGATGATTATTTCGATTGGTCACAACTTGAA
CAATGTTGTCGACAAAATTCAAATGGTTCTTTCTGTCCTCATTCAGATGGAGATTGCAAA
CCATGCTCGATTTCAAGAAATAACATAAAGAGACCAATACCAAAAGATTTCAACAAATAT
GTGAGCTTTTTCCTCAATGACAATCCCGATGAAACATGTGCTAAAGGTGGCCATGCGGCA
TACTATTCTGCTGTAAATCTCTTGGAAAATAAAACACAAGCAGTTGGTGCAAGTTATTTC
ATGACATATCATACAATTCTTAAAACATCATCGGACTATTTTGAAGCATTAAGGGCAGCA
AGAAAAGTGTCTGCCAACATTACAAAAACAATTCATGCATCGATGCGACTTTCAGGCAGA
CCAGAATCTGAAATTGAAAATGTTGAAGTATTTCCATATTCTGTTTTCTATGTTTTCTAC
GAACAGTATCTTACAATGTGGCCTGATACAGTACGCAGTATGGGAATTTCTGTTTTATCA
ATTTTCATCGTAACATTCCTTCTCATGGGCTTCGACATTCATTCATCAATTGTTGTTGTT
ATCACAATTACAATGATAGTCATCAACATTGGAGGACTTATGTATTATTGGAATATCTCA
TTGAATGCTGTTTCATTGGTTAATCTTGTTATGGCTGTCGGCATTTCTGTTGAATTCTGC
TCGCATCTTGTGCATAGCTTTAGCGTTTCTATGGAAGAAACAAAAGTTAAAAGGTCAGCT
GATGCTTTAACTAAAATGGGCAGCTCGATATTTTCGGGTATTACATTAACTAAATTCGGT
GGGATACTTGTGTTGGGTTTTGCACAAAGTCAAATTTTCCAAGTTTTCTACTTCCGTATG
TATCTTGGAATTGTACTATTTGGTGCAGCTCATGGCCTCATCTTCTTGCCAGTTTTATTA
TCATATATTGGCGTGATGCACCGAAAATATAGACGAGATAGAGTCATTGCCTCAAACACC
AGTAATAATAATCAGGAAGAAGACATTGATGACAGTGAACCTCTTCTCGTACAGCAGCAA
CAACAACAGCAATCAAACGAACAACAACCACATTCCTCTACCTACGGATCTATAAATTAT
TAA

>g12300.t2 Gene=g12300 Length=1380
MSIRFKTNLINFILILGFSLVFGQATTTTSSTDNEGHCVWRGICATDPQKKNCAYDGKAL
PLDKEGITELQEWCSHLMPNSNNSTVLTCCDIEQLKEFNSQIKLAAAILNRCPSCMKNLA
RHICDFTCSPHQSDFIKVKKTGISEDTNKTYVDEIDIYITEKYFNGTYDSCKNVIYPSSG
QLALDLMCGSWGASKCSPARWFGYMGDAVNNPFVPFQINYLPQDSSSRNDDIKPLDSKVV
PCNQPVDDKTPACSCVDCQASCPKPPPPDPVVRPFIIWGFDGYAVVMFFIFLLGSLIFIM
GAGCCSTSETDVQDEPYLHQQIGRSLADDRLSSSDIATDREDSPLQSKRSSQSSENDQEL
TTHPSAIVDNELGEESGYFEKLGAKTEHVLEQFFTAWGTWCANNPWKVLLLGCIFIASLG
FGLLFLNVTTDPVQLWASPHSRSRIEREYFDTHFGPFYRIEQIIITTKDIAPIVHNTSNG
IVHFGPVFNDTFLLKVREIQESIKSIKLQNSDDDEALSKICYAPLRSQYFEEDQSQSVND
CVIQSVWGYFKDDIDTFEEIDTDSEGYTINYLDHLLQCFNNPYNPDCLAPYGGIVDPAVA
FGGFLKPGDTLSKNPNYENATSVILTFLVNNNHDKTKLNDTLNWEEMYVKVMKNWTTNAN
ISFMDIAFTSERSIEDELYRESKSDISTILVSYLLMFAYIAVSLGHVDVCNRALIDSKIT
LGMGGVIIVLASVVASGGFFGYIGVPATLIIFEVIPFLVLAVGVDNIFILVQTHQRDQKR
PNETHAEHIGRILGKVGPSILLSSISESTCFFLGGLSDMPAVKCFALYAGMALFFDFLLQ
ITCFVSLLALDTQRQAENRWDILCFMRGSKKDSGQITTSKEGVLYKFFKVIYVPFLMKKV
VRITVMVVFYGWLCSSIAVAPHIDIGLDQELSMPKDSFVLKYFQYLQSYLSVGPPTYFVL
KNGLNFSNTQDQNLICGGLYCNSDSLYTQIYSSSKLPETTFIARPASSWIDDYFDWSQLE
QCCRQNSNGSFCPHSDGDCKPCSISRNNIKRPIPKDFNKYVSFFLNDNPDETCAKGGHAA
YYSAVNLLENKTQAVGASYFMTYHTILKTSSDYFEALRAARKVSANITKTIHASMRLSGR
PESEIENVEVFPYSVFYVFYEQYLTMWPDTVRSMGISVLSIFIVTFLLMGFDIHSSIVVV
ITITMIVINIGGLMYYWNISLNAVSLVNLVMAVGISVEFCSHLVHSFSVSMEETKVKRSA
DALTKMGSSIFSGITLTKFGGILVLGFAQSQIFQVFYFRMYLGIVLFGAAHGLIFLPVLL
SYIGVMHRKYRRDRVIASNTSNNNQEEDIDDSEPLLVQQQQQQQSNEQQPHSSTYGSINY

Protein features from InterProScan

Transcript Database ID Name Start End E.value
9 g12300.t2 Coils Coil Coil 1380 1380 -
8 g12300.t2 Gene3D G3DSA:1.20.1640.10 Multidrug efflux transporter AcrB transmembrane domain 1154 1334 5.0E-11
59 g12300.t2 MobiDBLite mobidb-lite consensus disorder prediction 329 365 -
58 g12300.t2 MobiDBLite mobidb-lite consensus disorder prediction 347 365 -
57 g12300.t2 MobiDBLite mobidb-lite consensus disorder prediction 1339 1380 -
56 g12300.t2 MobiDBLite mobidb-lite consensus disorder prediction 1354 1380 -
4 g12300.t2 PANTHER PTHR45727 NPC INTRACELLULAR CHOLESTEROL TRANSPORTER 1 29 1357 0.0
1 g12300.t2 Pfam PF16414 Niemann-Pick C1 N terminus 36 281 2.4E-75
2 g12300.t2 Pfam PF12349 Sterol-sensing domain of SREBP cleavage-activation 715 867 1.6E-57
3 g12300.t2 Pfam PF02460 Patched family 1146 1322 6.4E-33
24 g12300.t2 Phobius SIGNAL_PEPTIDE Signal peptide region 1 25 -
25 g12300.t2 Phobius SIGNAL_PEPTIDE_N_REGION N-terminal region of a signal peptide. 1 8 -
26 g12300.t2 Phobius SIGNAL_PEPTIDE_H_REGION Hydrophobic region of a signal peptide. 9 20 -
40 g12300.t2 Phobius SIGNAL_PEPTIDE_C_REGION C-terminal region of a signal peptide. 21 25 -
19 g12300.t2 Phobius NON_CYTOPLASMIC_DOMAIN Region of a membrane-bound protein predicted to be outside the membrane, in the extracellular region. 26 274 -
38 g12300.t2 Phobius TRANSMEMBRANE Region of a membrane-bound protein predicted to be embedded in the membrane. 275 299 -
15 g12300.t2 Phobius CYTOPLASMIC_DOMAIN Region of a membrane-bound protein predicted to be outside the membrane, in the cytoplasm. 300 407 -
32 g12300.t2 Phobius TRANSMEMBRANE Region of a membrane-bound protein predicted to be embedded in the membrane. 408 426 -
20 g12300.t2 Phobius NON_CYTOPLASMIC_DOMAIN Region of a membrane-bound protein predicted to be outside the membrane, in the extracellular region. 427 685 -
27 g12300.t2 Phobius TRANSMEMBRANE Region of a membrane-bound protein predicted to be embedded in the membrane. 686 707 -
13 g12300.t2 Phobius CYTOPLASMIC_DOMAIN Region of a membrane-bound protein predicted to be outside the membrane, in the cytoplasm. 708 718 -
36 g12300.t2 Phobius TRANSMEMBRANE Region of a membrane-bound protein predicted to be embedded in the membrane. 719 743 -
22 g12300.t2 Phobius NON_CYTOPLASMIC_DOMAIN Region of a membrane-bound protein predicted to be outside the membrane, in the extracellular region. 744 748 -
39 g12300.t2 Phobius TRANSMEMBRANE Region of a membrane-bound protein predicted to be embedded in the membrane. 749 771 -
14 g12300.t2 Phobius CYTOPLASMIC_DOMAIN Region of a membrane-bound protein predicted to be outside the membrane, in the cytoplasm. 772 791 -
31 g12300.t2 Phobius TRANSMEMBRANE Region of a membrane-bound protein predicted to be embedded in the membrane. 792 814 -
18 g12300.t2 Phobius NON_CYTOPLASMIC_DOMAIN Region of a membrane-bound protein predicted to be outside the membrane, in the extracellular region. 815 825 -
33 g12300.t2 Phobius TRANSMEMBRANE Region of a membrane-bound protein predicted to be embedded in the membrane. 826 850 -
11 g12300.t2 Phobius CYTOPLASMIC_DOMAIN Region of a membrane-bound protein predicted to be outside the membrane, in the cytoplasm. 851 902 -
37 g12300.t2 Phobius TRANSMEMBRANE Region of a membrane-bound protein predicted to be embedded in the membrane. 903 923 -
21 g12300.t2 Phobius NON_CYTOPLASMIC_DOMAIN Region of a membrane-bound protein predicted to be outside the membrane, in the extracellular region. 924 1173 -
34 g12300.t2 Phobius TRANSMEMBRANE Region of a membrane-bound protein predicted to be embedded in the membrane. 1174 1191 -
12 g12300.t2 Phobius CYTOPLASMIC_DOMAIN Region of a membrane-bound protein predicted to be outside the membrane, in the cytoplasm. 1192 1197 -
28 g12300.t2 Phobius TRANSMEMBRANE Region of a membrane-bound protein predicted to be embedded in the membrane. 1198 1217 -
23 g12300.t2 Phobius NON_CYTOPLASMIC_DOMAIN Region of a membrane-bound protein predicted to be outside the membrane, in the extracellular region. 1218 1222 -
30 g12300.t2 Phobius TRANSMEMBRANE Region of a membrane-bound protein predicted to be embedded in the membrane. 1223 1245 -
16 g12300.t2 Phobius CYTOPLASMIC_DOMAIN Region of a membrane-bound protein predicted to be outside the membrane, in the cytoplasm. 1246 1265 -
35 g12300.t2 Phobius TRANSMEMBRANE Region of a membrane-bound protein predicted to be embedded in the membrane. 1266 1288 -
17 g12300.t2 Phobius NON_CYTOPLASMIC_DOMAIN Region of a membrane-bound protein predicted to be outside the membrane, in the extracellular region. 1289 1299 -
29 g12300.t2 Phobius TRANSMEMBRANE Region of a membrane-bound protein predicted to be embedded in the membrane. 1300 1325 -
10 g12300.t2 Phobius CYTOPLASMIC_DOMAIN Region of a membrane-bound protein predicted to be outside the membrane, in the cytoplasm. 1326 1380 -
61 g12300.t2 ProSiteProfiles PS50156 Sterol-sensing domain (SSD) profile. 685 850 39.564
5 g12300.t2 SUPERFAMILY SSF82866 Multidrug efflux transporter AcrB transmembrane domain 647 850 1.19E-18
6 g12300.t2 SUPERFAMILY SSF82866 Multidrug efflux transporter AcrB transmembrane domain 1152 1323 3.27E-20
7 g12300.t2 SignalP_EUK SignalP-noTM SignalP-noTM 1 23 -
41 g12300.t2 SignalP_GRAM_NEGATIVE SignalP-noTM SignalP-noTM 1 23 -
60 g12300.t2 TIGRFAM TIGR00917 2A060601: Niemann-Pick C type protein family 38 1324 0.0
48 g12300.t2 TMHMM TMhelix Region of a membrane-bound protein predicted to be embedded in the membrane. 7 26 -
42 g12300.t2 TMHMM TMhelix Region of a membrane-bound protein predicted to be embedded in the membrane. 283 305 -
53 g12300.t2 TMHMM TMhelix Region of a membrane-bound protein predicted to be embedded in the membrane. 408 430 -
52 g12300.t2 TMHMM TMhelix Region of a membrane-bound protein predicted to be embedded in the membrane. 688 710 -
43 g12300.t2 TMHMM TMhelix Region of a membrane-bound protein predicted to be embedded in the membrane. 723 745 -
55 g12300.t2 TMHMM TMhelix Region of a membrane-bound protein predicted to be embedded in the membrane. 749 771 -
45 g12300.t2 TMHMM TMhelix Region of a membrane-bound protein predicted to be embedded in the membrane. 791 813 -
44 g12300.t2 TMHMM TMhelix Region of a membrane-bound protein predicted to be embedded in the membrane. 828 850 -
47 g12300.t2 TMHMM TMhelix Region of a membrane-bound protein predicted to be embedded in the membrane. 901 923 -
51 g12300.t2 TMHMM TMhelix Region of a membrane-bound protein predicted to be embedded in the membrane. 1173 1190 -
46 g12300.t2 TMHMM TMhelix Region of a membrane-bound protein predicted to be embedded in the membrane. 1197 1219 -
50 g12300.t2 TMHMM TMhelix Region of a membrane-bound protein predicted to be embedded in the membrane. 1223 1245 -
54 g12300.t2 TMHMM TMhelix Region of a membrane-bound protein predicted to be embedded in the membrane. 1266 1288 -
49 g12300.t2 TMHMM TMhelix Region of a membrane-bound protein predicted to be embedded in the membrane. 1303 1325 -

Transmembrane regions from TMHMM

Disordered region

IUPRED3 score over 0.5 is predictive of a disordered region.

GO terms from InterProScan

GOID TERM ONTOLOGY
GO:0005319 lipid transporter activity MF
GO:0016021 integral component of membrane CC

KEGG

Orthology

Pathway

  • This transcript belongs to the following pathways

Expression

Transcript expression in Pv11 cells

TPM values are indicated as average +/- STDEV.

Differential expression

Differentially expressed genes were identified with DESeq2 using the ‘run_DE_analysis.pl’ script from Trinity. Transcripts were determined as differentially expressed when (1) FDR < 0.05 (2) fold change > 2 (TPM calculated by RSEM). DE information and fold change between conditions are indicated in the plot below.

Raw TPM values