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.t3 isoform g12300.t3 22254516 22265620
chr_1 g12300 g12300.t3 exon g12300.t3.exon1 22254516 22254521
chr_1 g12300 g12300.t3 cds g12300.t3.CDS1 22254516 22254521
chr_1 g12300 g12300.t3 exon g12300.t3.exon2 22254890 22254966
chr_1 g12300 g12300.t3 cds g12300.t3.CDS2 22254890 22254966
chr_1 g12300 g12300.t3 exon g12300.t3.exon3 22255261 22255465
chr_1 g12300 g12300.t3 cds g12300.t3.CDS3 22255261 22255465
chr_1 g12300 g12300.t3 exon g12300.t3.exon4 22255535 22258065
chr_1 g12300 g12300.t3 cds g12300.t3.CDS4 22255535 22258065
chr_1 g12300 g12300.t3 exon g12300.t3.exon5 22258132 22258314
chr_1 g12300 g12300.t3 cds g12300.t3.CDS5 22258132 22258314
chr_1 g12300 g12300.t3 exon g12300.t3.exon6 22261099 22261288
chr_1 g12300 g12300.t3 cds g12300.t3.CDS6 22261099 22261288
chr_1 g12300 g12300.t3 exon g12300.t3.exon7 22261357 22261649
chr_1 g12300 g12300.t3 cds g12300.t3.CDS7 22261357 22261649
chr_1 g12300 g12300.t3 exon g12300.t3.exon8 22261838 22262003
chr_1 g12300 g12300.t3 cds g12300.t3.CDS8 22261838 22262003
chr_1 g12300 g12300.t3 exon g12300.t3.exon9 22262074 22262295
chr_1 g12300 g12300.t3 cds g12300.t3.CDS9 22262074 22262295
chr_1 g12300 g12300.t3 exon g12300.t3.exon10 22265561 22265620
chr_1 g12300 g12300.t3 cds g12300.t3.CDS10 22265561 22265620
chr_1 g12300 g12300.t3 TSS g12300.t3 22265942 22265942
chr_1 g12300 g12300.t3 TTS g12300.t3 NA NA

Sequences

>g12300.t3 Gene=g12300 Length=3933
ATGTCCATTAGATTTAAAACAAATTTAATAAATTTCATTCTCATACTTGGATTTTCATTG
GTATTTGGTCAAGCAACAACAACAACGTCGTCAACAGATAATGAGGGACATTGTGTTTGG
CGAGGAATTTGTGCTACTGATCCTCAGAAAAAAAATTGTGCCTATGATGGAAAAGCACTT
CCATTAGACAAAGAGGGTATTACAGAGCTGCAGGAATGGTGCTCGCATTTGATGCCTAAT
TCGAATAATAGTACTGTTTTGACATGCTGTGATATCGAACAGTTGAAAGAATTCAACTCT
CAGATAAAGTTAGCTGCTGCAATTCTAAATCGTTGTCCATCATGCATGAAAAATTTAGCC
AGACATATTTGTGATTTCACCTGTAGTCCGCATCAATCAGATTTTATAAAAGTCAAGAAA
ACTGGAATATCAGAGGACACTAATAAAACATATGTAGATGAGATAGACATTTACATAACA
GAAAAATATTTCAATGGAACATATGACTCATGTAAAAATGTCATCTATCCGTCGAGTGGA
CAACTTGCACTTGATTTAATGTGCGGATCGTGGGGTGCATCAAAATGTTCGCCTGCTAGA
TGGTTCGGTTATATGGGAGACGCTGTCAATAATCCATTTGTTCCATTTCAAATTAACTAT
TTGCCTCAAGATTCATCGAGTAGGAATGATGATATAAAGCCATTAGACTCAAAAGTCGTA
CCATGCAATCAGCCTGTGGATGATAAAACACCAGCCTGTTCATGTGTTGATTGCCAAGCA
TCATGCCCTAAGCCTCCACCACCAGATCCTGTTGTACGACCTTTTATAATTTGGGGTTTT
GACGGATATGCGGTCGTTATGTTTTTCATATTTCTTCTGGGAAGTTTAATATTCATCATG
GGTGCAGGATGCTGCTCAACTTCCGAAACTGGCCAATCGTCTGAAAACGATCAAGAATTA
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
TCATATATTGGCGCTCCAATAAATAAGGCAAAGCTGGCACAGTATCGACGAAAAGCAAAG
GAGATGCAGGAAACATCGTTATCAACTGCGTGA

>g12300.t3 Gene=g12300 Length=1310
MSIRFKTNLINFILILGFSLVFGQATTTTSSTDNEGHCVWRGICATDPQKKNCAYDGKAL
PLDKEGITELQEWCSHLMPNSNNSTVLTCCDIEQLKEFNSQIKLAAAILNRCPSCMKNLA
RHICDFTCSPHQSDFIKVKKTGISEDTNKTYVDEIDIYITEKYFNGTYDSCKNVIYPSSG
QLALDLMCGSWGASKCSPARWFGYMGDAVNNPFVPFQINYLPQDSSSRNDDIKPLDSKVV
PCNQPVDDKTPACSCVDCQASCPKPPPPDPVVRPFIIWGFDGYAVVMFFIFLLGSLIFIM
GAGCCSTSETGQSSENDQELTTHPSAIVDNELGEESGYFEKLGAKTEHVLEQFFTAWGTW
CANNPWKVLLLGCIFIASLGFGLLFLNVTTDPVQLWASPHSRSRIEREYFDTHFGPFYRI
EQIIITTKDIAPIVHNTSNGIVHFGPVFNDTFLLKVREIQESIKSIKLQNSDDDEALSKI
CYAPLRSQYFEEDQSQSVNDCVIQSVWGYFKDDIDTFEEIDTDSEGYTINYLDHLLQCFN
NPYNPDCLAPYGGIVDPAVAFGGFLKPGDTLSKNPNYENATSVILTFLVNNNHDKTKLND
TLNWEEMYVKVMKNWTTNANISFMDIAFTSERSIEDELYRESKSDISTILVSYLLMFAYI
AVSLGHVDVCNRALIDSKITLGMGGVIIVLASVVASGGFFGYIGVPATLIIFEVIPFLVL
AVGVDNIFILVQTHQRDQKRPNETHAEHIGRILGKVGPSILLSSISESTCFFLGGLSDMP
AVKCFALYAGMALFFDFLLQITCFVSLLALDTQRQAENRWDILCFMRGSKKDSGQITTSK
EGVLYKFFKVIYVPFLMKKVVRITVMVVFYGWLCSSIAVAPHIDIGLDQELSMPKDSFVL
KYFQYLQSYLSVGPPTYFVLKNGLNFSNTQDQNLICGGLYCNSDSLYTQIYSSSKLPETT
FIARPASSWIDDYFDWSQLEQCCRQNSNGSFCPHSDGDCKPCSISRNNIKRPIPKDFNKY
VSFFLNDNPDETCAKGGHAAYYSAVNLLENKTQAVGASYFMTYHTILKTSSDYFEALRAA
RKVSANITKTIHASMRLSGRPESEIENVEVFPYSVFYVFYEQYLTMWPDTVRSMGISVLS
IFIVTFLLMGFDIHSSIVVVITITMIVINIGGLMYYWNISLNAVSLVNLVMAVGISVEFC
SHLVHSFSVSMEETKVKRSADALTKMGSSIFSGITLTKFGGILVLGFAQSQIFQVFYFRM
YLGIVLFGAAHGLIFLPVLLSYIGAPINKAKLAQYRRKAKEMQETSLSTA

Protein features from InterProScan

Transcript Database ID Name Start End E.value
8 g12300.t3 Gene3D G3DSA:1.20.1640.10 Multidrug efflux transporter AcrB transmembrane domain 1114 1299 2.2E-11
4 g12300.t3 PANTHER PTHR45727 NPC INTRACELLULAR CHOLESTEROL TRANSPORTER 1 29 1305 0.0
1 g12300.t3 Pfam PF16414 Niemann-Pick C1 N terminus 36 281 2.2E-75
2 g12300.t3 Pfam PF12349 Sterol-sensing domain of SREBP cleavage-activation 675 827 1.5E-57
3 g12300.t3 Pfam PF02460 Patched family 1106 1282 4.3E-33
24 g12300.t3 Phobius SIGNAL_PEPTIDE Signal peptide region 1 25 -
25 g12300.t3 Phobius SIGNAL_PEPTIDE_N_REGION N-terminal region of a signal peptide. 1 8 -
26 g12300.t3 Phobius SIGNAL_PEPTIDE_H_REGION Hydrophobic region of a signal peptide. 9 20 -
41 g12300.t3 Phobius SIGNAL_PEPTIDE_C_REGION C-terminal region of a signal peptide. 21 25 -
22 g12300.t3 Phobius NON_CYTOPLASMIC_DOMAIN Region of a membrane-bound protein predicted to be outside the membrane, in the extracellular region. 26 274 -
40 g12300.t3 Phobius TRANSMEMBRANE Region of a membrane-bound protein predicted to be embedded in the membrane. 275 299 -
11 g12300.t3 Phobius CYTOPLASMIC_DOMAIN Region of a membrane-bound protein predicted to be outside the membrane, in the cytoplasm. 300 367 -
33 g12300.t3 Phobius TRANSMEMBRANE Region of a membrane-bound protein predicted to be embedded in the membrane. 368 386 -
17 g12300.t3 Phobius NON_CYTOPLASMIC_DOMAIN Region of a membrane-bound protein predicted to be outside the membrane, in the extracellular region. 387 645 -
37 g12300.t3 Phobius TRANSMEMBRANE Region of a membrane-bound protein predicted to be embedded in the membrane. 646 667 -
15 g12300.t3 Phobius CYTOPLASMIC_DOMAIN Region of a membrane-bound protein predicted to be outside the membrane, in the cytoplasm. 668 678 -
31 g12300.t3 Phobius TRANSMEMBRANE Region of a membrane-bound protein predicted to be embedded in the membrane. 679 703 -
18 g12300.t3 Phobius NON_CYTOPLASMIC_DOMAIN Region of a membrane-bound protein predicted to be outside the membrane, in the extracellular region. 704 708 -
29 g12300.t3 Phobius TRANSMEMBRANE Region of a membrane-bound protein predicted to be embedded in the membrane. 709 731 -
10 g12300.t3 Phobius CYTOPLASMIC_DOMAIN Region of a membrane-bound protein predicted to be outside the membrane, in the cytoplasm. 732 751 -
28 g12300.t3 Phobius TRANSMEMBRANE Region of a membrane-bound protein predicted to be embedded in the membrane. 752 774 -
19 g12300.t3 Phobius NON_CYTOPLASMIC_DOMAIN Region of a membrane-bound protein predicted to be outside the membrane, in the extracellular region. 775 785 -
36 g12300.t3 Phobius TRANSMEMBRANE Region of a membrane-bound protein predicted to be embedded in the membrane. 786 810 -
13 g12300.t3 Phobius CYTOPLASMIC_DOMAIN Region of a membrane-bound protein predicted to be outside the membrane, in the cytoplasm. 811 859 -
35 g12300.t3 Phobius TRANSMEMBRANE Region of a membrane-bound protein predicted to be embedded in the membrane. 860 882 -
16 g12300.t3 Phobius NON_CYTOPLASMIC_DOMAIN Region of a membrane-bound protein predicted to be outside the membrane, in the extracellular region. 883 901 -
30 g12300.t3 Phobius TRANSMEMBRANE Region of a membrane-bound protein predicted to be embedded in the membrane. 902 920 -
12 g12300.t3 Phobius CYTOPLASMIC_DOMAIN Region of a membrane-bound protein predicted to be outside the membrane, in the cytoplasm. 921 1133 -
38 g12300.t3 Phobius TRANSMEMBRANE Region of a membrane-bound protein predicted to be embedded in the membrane. 1134 1151 -
20 g12300.t3 Phobius NON_CYTOPLASMIC_DOMAIN Region of a membrane-bound protein predicted to be outside the membrane, in the extracellular region. 1152 1156 -
27 g12300.t3 Phobius TRANSMEMBRANE Region of a membrane-bound protein predicted to be embedded in the membrane. 1157 1177 -
14 g12300.t3 Phobius CYTOPLASMIC_DOMAIN Region of a membrane-bound protein predicted to be outside the membrane, in the cytoplasm. 1178 1188 -
39 g12300.t3 Phobius TRANSMEMBRANE Region of a membrane-bound protein predicted to be embedded in the membrane. 1189 1209 -
23 g12300.t3 Phobius NON_CYTOPLASMIC_DOMAIN Region of a membrane-bound protein predicted to be outside the membrane, in the extracellular region. 1210 1228 -
34 g12300.t3 Phobius TRANSMEMBRANE Region of a membrane-bound protein predicted to be embedded in the membrane. 1229 1248 -
9 g12300.t3 Phobius CYTOPLASMIC_DOMAIN Region of a membrane-bound protein predicted to be outside the membrane, in the cytoplasm. 1249 1259 -
32 g12300.t3 Phobius TRANSMEMBRANE Region of a membrane-bound protein predicted to be embedded in the membrane. 1260 1283 -
21 g12300.t3 Phobius NON_CYTOPLASMIC_DOMAIN Region of a membrane-bound protein predicted to be outside the membrane, in the extracellular region. 1284 1310 -
59 g12300.t3 ProSiteProfiles PS50156 Sterol-sensing domain (SSD) profile. 645 810 39.564
5 g12300.t3 SUPERFAMILY SSF82866 Multidrug efflux transporter AcrB transmembrane domain 606 810 1.1E-18
6 g12300.t3 SUPERFAMILY SSF82866 Multidrug efflux transporter AcrB transmembrane domain 1112 1284 3.01E-20
7 g12300.t3 SignalP_EUK SignalP-noTM SignalP-noTM 1 23 -
42 g12300.t3 SignalP_GRAM_NEGATIVE SignalP-noTM SignalP-noTM 1 23 -
58 g12300.t3 TIGRFAM TIGR00917 2A060601: Niemann-Pick C type protein family 38 1284 0.0
50 g12300.t3 TMHMM TMhelix Region of a membrane-bound protein predicted to be embedded in the membrane. 7 26 -
54 g12300.t3 TMHMM TMhelix Region of a membrane-bound protein predicted to be embedded in the membrane. 277 299 -
55 g12300.t3 TMHMM TMhelix Region of a membrane-bound protein predicted to be embedded in the membrane. 368 390 -
48 g12300.t3 TMHMM TMhelix Region of a membrane-bound protein predicted to be embedded in the membrane. 648 670 -
51 g12300.t3 TMHMM TMhelix Region of a membrane-bound protein predicted to be embedded in the membrane. 683 705 -
46 g12300.t3 TMHMM TMhelix Region of a membrane-bound protein predicted to be embedded in the membrane. 709 731 -
45 g12300.t3 TMHMM TMhelix Region of a membrane-bound protein predicted to be embedded in the membrane. 751 773 -
49 g12300.t3 TMHMM TMhelix Region of a membrane-bound protein predicted to be embedded in the membrane. 788 810 -
43 g12300.t3 TMHMM TMhelix Region of a membrane-bound protein predicted to be embedded in the membrane. 861 883 -
53 g12300.t3 TMHMM TMhelix Region of a membrane-bound protein predicted to be embedded in the membrane. 898 920 -
57 g12300.t3 TMHMM TMhelix Region of a membrane-bound protein predicted to be embedded in the membrane. 1131 1153 -
56 g12300.t3 TMHMM TMhelix Region of a membrane-bound protein predicted to be embedded in the membrane. 1157 1179 -
47 g12300.t3 TMHMM TMhelix Region of a membrane-bound protein predicted to be embedded in the membrane. 1184 1206 -
52 g12300.t3 TMHMM TMhelix Region of a membrane-bound protein predicted to be embedded in the membrane. 1226 1248 -
44 g12300.t3 TMHMM TMhelix Region of a membrane-bound protein predicted to be embedded in the membrane. 1261 1283 -

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