KEGG T01001: 4864

Homo sapiens (human): 4864

Entry

4864 CDS T01001

Gene name

NPC1, NPC

Definition

Niemann-Pick disease, type C1

Orthology

K12385

Niemann-Pick C1 protein

Organism

hsa Homo sapiens (human)

Pathway

hsa04142

Lysosome

Disease

H00136

Niemann-Pick type C disease (NPC)

Class

Cellular Processes; Transport and catabolism; Lysosome [PATH:hsa04142]

SSDB

Motif

Pfam:

Patched Sterol-sensing MMPL ACR_tran

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Structure

PDB:

3GKJ 3GKI 3GKH

Position

18q11.2

AA seq 1278 aa
MTARGLALGLLLLLLCPAQVFSQSCVWYGECGIAYGDKRYNCEYSGPPKPLPKDGYDLVQ
ELCPGFFFGNVSLCCDVRQLQTLKDNLQLPLQFLSRCPSCFYNLLNLFCELTCSPRQSQF
LNVTATEDYVDPVTNQTKTNVKELQYYVGQSFANAMYNACRDVEAPSSNDKALGLLCGKD
ADACNATNWIEYMFNKDNGQAPFTITPVFSDFPVHGMEPMNNATKGCDESVDEVTAPCSC
QDCSIVCGPKPQPPPPPAPWTILGLDAMYVIMWITYMAFLLVFFGAFFAVWCYRKRYFVS
EYTPIDSNIAFSVNASDKGEASCCDPVSAAFEGCLRRLFTRWGSFCVRNPGCVIFFSLVF
ITACSSGLVFVRVTTNPVDLWSAPSSQARLEKEYFDQHFGPFFRTEQLIIRAPLTDKHIY
QPYPSGADVPFGPPLDIQILHQVLDLQIAIENITASYDNETVTLQDICLAPLSPYNTNCT
ILSVLNYFQNSHSVLDHKKGDDFFVYADYHTHFLYCVRAPASLNDTSLLHDPCLGTFGGP
VFPWLVLGGYDDQNYNNATALVITFPVNNYYNDTEKLQRAQAWEKEFINFVKNYKNPNLT
ISFTAERSIEDELNRESDSDVFTVVISYAIMFLYISLALGHMKSCRRLLVDSKVSLGIAG
ILIVLSSVACSLGVFSYIGLPLTLIVIEVIPFLVLAVGVDNIFILVQAYQRDERLQGETL
DQQLGRVLGEVAPSMFLSSFSETVAFFLGALSVMPAVHTFSLFAGLAVFIDFLLQITCFV
SLLGLDIKRQEKNRLDIFCCVRGAEDGTSVQASESCLFRFFKNSYSPLLLKDWMRPIVIA
IFVGVLSFSIAVLNKVDIGLDQSLSMPDDSYMVDYFKSISQYLHAGPPVYFVLEEGHDYT
SSKGQNMVCGGMGCNNDSLVQQIFNAAQLDNYTRIGFAPSSWIDDYFDWVKPQSSCCRVD
NITDQFCNASVVDPACVRCRPLTPEGKQRPQGGDFMRFLPMFLSDNPNPKCGKGGHAAYS
SAVNILLGHGTRVGATYFMTYHTVLQTSADFIDALKKARLIASNVTETMGINGSAYRVFP
YSVFYVFYEQYLTIIDDTIFNLGVSLGAIFLVTMVLLGCELWSAVIMCATIAMVLVNMFG
VMWLWGISLNAVSLVNLVMSCGISVEFCSHITRAFTVSMKGSRVERAEEALAHMGSSVFS
GITLTKFGGIVVLAFAKSQIFQIFYFRMYLAMVLLGATHGLIFLPVLLSYIGPSVNKAKS
CATEERYKGTERERLLNF

NT seq 3837 nt +upstreamnt +downstreamnt
atgaccgctcgcggcctggcccttggcctcctcctgctgctactgtgtccagcgcaggtg
ttttcacagtcctgtgtttggtatggagagtgtggaattgcatatggggacaagaggtac
aattgcgaatattctggcccaccaaaaccattgccaaaggatggatatgacttagtgcag
gaactctgtccaggattcttctttggcaatgtcagtctctgttgtgatgttcggcagctt
cagacactaaaagacaacctgcagctgcctctacagtttctgtccagatgtccatcctgt
ttttataacctactgaacctgttttgtgagctgacatgtagccctcgacagagtcagttt
ttgaatgttacagctactgaagattatgttgatcctgttacaaaccagacgaaaacaaat
gtgaaagagttacaatactacgtcggacagagttttgccaatgcaatgtacaatgcctgc
cgggatgtggaggccccctcaagtaatgacaaggccctgggactcctgtgtgggaaggac
gctgacgcctgtaatgccaccaactggattgaatacatgttcaataaggacaatggacag
gcaccttttaccatcactcctgtgttttcagattttccagtccatgggatggagcccatg
aacaatgccaccaaaggctgtgacgagtctgtggatgaggtcacagcaccatgtagctgc
caagactgctctattgtctgtggccccaagccccagcccccacctcctcctgctccctgg
acgatccttggcttggacgccatgtatgtcatcatgtggatcacctacatggcgtttttg
cttgtgttttttggagcattttttgcagtgtggtgctacagaaaacggtattttgtctcc
gagtacactcccatcgatagcaatatagctttttctgttaatgcaagtgacaaaggagag
gcgtcctgctgtgaccctgtcagcgcagcatttgagggctgcttgaggcggctgttcaca
cgctgggggtctttctgcgtccgaaaccctggctgtgtcattttcttctcgctggtcttc
attactgcgtgttcgtcaggcctggtgtttgtccgggtcacaaccaatccagttgacctc
tggtcagcccccagcagccaggctcgcctggaaaaagagtactttgaccagcactttggg
cctttcttccggacggagcagctcatcatccgggcccctctcactgacaaacacatttac
cagccatacccttcgggagctgatgtaccctttggacctccgcttgacatacagatactg
caccaggttcttgacttacaaatagccatcgaaaacattactgcctcttatgacaatgag
actgtgacacttcaagacatctgcttggcccctctttcaccgtataacacgaactgcacc
attttgagtgtgttaaattacttccagaacagccattccgtgctggaccacaagaaaggg
gacgacttctttgtgtatgccgattaccacacgcactttctgtactgcgtacgggctcct
gcctctctgaatgatacaagtttgctccatgacccttgtctgggtacgtttggtggacca
gtgttcccgtggcttgtgttgggaggctatgatgatcaaaactacaataacgccactgcc
cttgtgattaccttccctgtcaataattactataatgatacagagaagctccagagggcc
caggcctgggaaaaagagtttattaattttgtgaaaaactacaagaatcccaatctgacc
atttccttcactgctgaacgaagtattgaagatgaactaaatcgtgaaagtgacagtgat
gtcttcaccgttgtaattagctatgccatcatgtttctatatatttccctagccttgggg
cacatgaaaagctgtcgcaggcttctggtggattcgaaggtctcactaggcatcgcgggc
atcttgatcgtgctgagctcggtggcttgctccttgggtgtcttcagctacattgggttg
cccttgaccctcattgtgattgaagtcatcccgttcctggtgctggctgttggagtggac
aacatcttcattctggtgcaggcctaccagagagatgaacgtcttcaaggggaaaccctg
gatcagcagctgggcagggtcctaggagaagtggctcccagtatgttcctgtcatccttt
tctgagactgtagcatttttcttaggagcattgtccgtgatgccagccgtgcacaccttc
tctctctttgcgggattggcagtcttcattgactttcttctgcagattacctgtttcgtg
agtctcttggggttagacattaaacgtcaagagaaaaatcggctagacatcttttgctgt
gtcagaggtgctgaagatggaacaagcgtccaggcctcagagagctgtttgtttcgcttc
ttcaaaaactcctattctccacttctgctaaaggactggatgagaccaattgtgatagca
atatttgtgggtgttctgtcattcagcatcgcagtcctgaacaaagtagatattggattg
gatcagtctctttcgatgccagatgactcctacatggtggattatttcaaatccatcagt
cagtacctgcatgcgggtccgcctgtgtactttgtcctggaggaagggcacgactacact
tcttccaaggggcagaacatggtgtgcggcggcatgggctgcaacaatgattccctggtg
cagcagatatttaacgcggcgcagctggacaactatacccgaataggcttcgccccctcg
tcctggatcgacgattatttcgactgggtgaagccacagtcgtcttgctgtcgagtggac
aatatcactgaccagttctgcaatgcttcagtggttgaccctgcctgcgttcgctgcagg
cctctgactccggaaggcaaacagaggcctcaggggggagacttcatgagattcctgccc
atgttcctttcggataaccctaaccccaagtgtggcaaagggggacatgctgcctatagt
tctgcagttaacatcctccttggccatggcaccagggtcggagccacgtacttcatgacc
taccacaccgtgctgcagacctctgctgactttattgacgctctgaagaaagcccgactt
atagccagtaatgtcaccgaaaccatgggcattaacggcagtgcctaccgagtatttcct
tacagtgtgttttatgtcttctacgaacagtacctgaccatcattgacgacactatcttc
aacctcggtgtgtccctgggcgcgatatttctggtgaccatggtcctcctgggctgtgag
ctctggtctgcagtcatcatgtgtgccaccatcgccatggtcttggtcaacatgtttgga
gttatgtggctctggggcatcagtctgaacgctgtatccttggtcaacctggtgatgagc
tgtggcatctccgtggagttctgcagccacataaccagagcgttcacggtgagcatgaaa
ggcagccgcgtggagcgcgcggaagaggcacttgcccacatgggcagctccgtgttcagt
ggaatcacacttacaaaatttggagggattgtggtgttggcttttgccaaatctcaaatt
ttccagatattctacttcaggatgtatttggccatggtcttactgggagccactcacgga
ttaatatttctccctgtcttactcagttacatagggccatcagtaaataaagccaaaagt
tgtgccactgaagagcgatacaaaggaacagagcgcgaacggcttctaaatttctag

All links

Ontology (1)   
   KEGG BRITE (1)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (15)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (6)   
   UniGene (2)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (2)   
   UniProt (1)   
   RefSeq(pep) (1)   
DNA sequence (21)   
   RefSeq(nuc) (1)   
   GenBank (10)   
   EMBL (10)   
3D Structure (3)   
   PDB (3)   
Protein domain (4)   
   Pfam (4)   
All databases (51)   

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