KEGG   Homo sapiens (human): 2647
Entry
2647              CDS       T01001                                 
Symbol
BLOC1S1, BLOS1, BORCS1, GCN5L1, MICoA, RT14
Name
(RefSeq) biogenesis of lysosome-related organelles complex 1 subunit 1
  KO
K20185  biogenesis of lysosome-related organelles complex 1 subunit 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome biogenesis
Network
nt06181  Salmonella
nt06550  Lysosome biogenesis
  Element
N01297  Arl8-regulated microtubule plus-end directed transport
N02018  LAMP1 transport from the endosome to the lysosome
N02019  CD63 or TYRP1 transport from the endosome to the lysosome-related organelles (LROs)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome biogenesis
    2647 (BLOC1S1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    2647 (BLOC1S1)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Arf GTPases and associated proteins
   BLOC-one-related complex (BORC)
    2647 (BLOC1S1)
  Others
   BLOC-1 complex
    2647 (BLOC1S1)
SSDB
Motif
Pfam: GCN5L1 DUF6730 Rab11-FIP3 GSCFA DUF6855 HrpF Sec3_CC Seryl_tRNA_N
Other DBs
NCBI-GeneID: 2647
NCBI-ProteinID: NP_001478
OMIM: 601444
HGNC: 4200
Ensembl: ENSP00000447537.1
UniProt: P78537
LinkDB
Position
12:55716046..55719703
AA seq 153 aa
MAPGSRGERSSFRSRRGPGVPSPQPDVTMLSRLLKEHQAKQNERKELQEKRRREAITAAT
CLTEALVDHLNVGVAQAYMNQRKLDHEVKTLQVQAAQFAKQTGQWIGMVENFNQALKEIG
DVENWARSIELDMRTIATALEYVYKGQLQSAPS
NT seq 462 nt   +upstreamnt  +downstreamnt
atggccccggggagccgaggtgagcgttccagcttccggagccggagggggcccggcgta
cccagcccccagcccgacgtgaccatgctgtcccgcctcctaaaagaacaccaggccaag
cagaatgaacgcaaggagctgcaggaaaagaggaggcgagaggctatcactgcagcgacc
tgcctgacagaagctttggtggatcacctcaatgtgggtgtggcccaggcctacatgaac
cagagaaagctggaccatgaggtgaagaccctacaggtccaggctgcccaatttgccaag
cagacaggccagtggatcggaatggtggagaacttcaaccaggcactcaaggaaattggg
gatgtggagaactgggctcggagcatcgagctggacatgcgcaccattgccactgcactg
gaatatgtctacaaagggcagctgcagtctgccccttcctag

KEGG   Homo sapiens (human): 282991
Entry
282991            CDS       T01001                                 
Symbol
BLOC1S2, BLOS2, BORCS2, CEAP, CEAP11
Name
(RefSeq) biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 1
  KO
K16750  biogenesis of lysosome-related organelles complex 1 subunit 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome biogenesis
Network
nt06181  Salmonella
nt06550  Lysosome biogenesis
  Element
N01297  Arl8-regulated microtubule plus-end directed transport
N02018  LAMP1 transport from the endosome to the lysosome
N02019  CD63 or TYRP1 transport from the endosome to the lysosome-related organelles (LROs)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome biogenesis
    282991 (BLOC1S2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    282991 (BLOC1S2)
   03036 Chromosome and associated proteins [BR:hsa03036]
    282991 (BLOC1S2)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Arf GTPases and associated proteins
   BLOC-one-related complex (BORC)
    282991 (BLOC1S2)
  Others
   BLOC-1 complex
    282991 (BLOC1S2)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation proteins
   Other centrosome associated proteins
    282991 (BLOC1S2)
SSDB
Motif
Pfam: BLOC1_2 VAB2 Fib_alpha STB2_C ParB
Other DBs
NCBI-GeneID: 282991
NCBI-ProteinID: NP_776170
OMIM: 609768
HGNC: 20984
Ensembl: ENSP00000359398.2
UniProt: Q6QNY1 F1T0F0
LinkDB
Position
10:complement(100273278..100286680)
AA seq 142 aa
MAAAAEGVLATRSDEPARDDAAVETAEEAKEPAEADITELCRDMFSKMATYLTGELTATS
EDYKLLENMNKLTSLKYLEMKDIAINISRNLKDLNQKYAGLQPYLDQINVIEEQVAALEQ
AAYKLDAYSKKLEAKYKKLEKR
NT seq 429 nt   +upstreamnt  +downstreamnt
atggcggcggcagccgagggcgtactggcgacccggagtgatgagcccgcccgagacgat
gccgccgtggagacagctgaggaagcaaaggagcctgctgaagctgacatcactgagctc
tgccgggacatgttctccaaaatggccacttacctgactggggaactgacggccaccagt
gaagactataagctcctggaaaatatgaataaactcaccagcttgaagtatcttgaaatg
aaagatattgctataaacattagtaggaacttaaaggacttaaaccagaaatatgctgga
ctgcagccttatctggatcagatcaatgtcattgaagagcaggtagcagctcttgagcag
gcagcttacaagttggatgcatattcaaaaaaactggaagccaagtacaagaagctggag
aagcgatga

KEGG   Homo sapiens (human): 23557
Entry
23557             CDS       T01001                                 
Symbol
SNAPIN, BLOC1S7, BLOS7, BORCS3, SNAPAP
Name
(RefSeq) SNARE-associated protein Snapin
  KO
K20002  SNARE-associated protein Snapin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome biogenesis
Network
nt06181  Salmonella
nt06550  Lysosome biogenesis
  Element
N01297  Arl8-regulated microtubule plus-end directed transport
N02018  LAMP1 transport from the endosome to the lysosome
N02019  CD63 or TYRP1 transport from the endosome to the lysosome-related organelles (LROs)
Disease
H03044  Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome biogenesis
    23557 (SNAPIN)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    23557 (SNAPIN)
Membrane trafficking [BR:hsa04131]
 SNARE
  SNARE associated proteins
   Others
    23557 (SNAPIN)
 Endosome - Lysosome transport
  Arf GTPases and associated proteins
   BLOC-one-related complex (BORC)
    23557 (SNAPIN)
  Others
   BLOC-1 complex
    23557 (SNAPIN)
SSDB
Motif
Pfam: Snapin_Pallidin CATRA-C DUF3496 WHD_E2F_TDP DUF1664
Other DBs
NCBI-GeneID: 23557
NCBI-ProteinID: NP_036569
OMIM: 607007
HGNC: 17145
Ensembl: ENSP00000357674.5
UniProt: O95295
LinkDB
Position
1:153658654..153661852
AA seq 136 aa
MAGAGSAAVSGAGTPVAGPTGRDLFAEGLLEFLRPAVQQLDSHVHAVRESQVELREQIDN
LATELCRINEDQKVALDLDPYVKKLLNARRRVVLVNNILQNAQERLRRLNHSVAKETARR
RAMLDSGIYPPGSPGK
NT seq 411 nt   +upstreamnt  +downstreamnt
atggcgggggctggttccgccgctgtatcgggggcagggaccccggtggcggggcccaca
ggccgcgaccttttcgccgaagggctgctggagttcctgcgacccgctgtgcagcagctc
gactctcacgtacacgccgtcagagagagccaggtagagctccgggaacaaattgacaac
ctagccacagaactgtgccgcataaatgaggatcagaaggtggccctggatcttgacccc
tatgttaagaagctacttaatgcccggcgacgcgttgtcttggttaacaacattctacag
aatgctcaggaacgactgagacggctaaaccacagtgttgccaaggaaacagcccgcagg
agagcaatgctggattcgggaatttacccccctggctccccaggcaaataa

KEGG   Homo sapiens (human): 79036
Entry
79036             CDS       T01001                                 
Symbol
KXD1, BORCS4, C10orf50, C19orf50, KXDL, MST096, MSTP096
Name
(RefSeq) kxDL motif-containing protein 1
  KO
K20818  KxDL motif-containing protein 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome biogenesis
Network
nt06181  Salmonella
  Element
N01297  Arl8-regulated microtubule plus-end directed transport
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome biogenesis
    79036 (KXD1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    79036 (KXD1)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Arf GTPases and associated proteins
   BLOC-one-related complex (BORC)
    79036 (KXD1)
SSDB
Motif
Pfam: KxDL Syntaxin TolA_bind_tri
Other DBs
NCBI-GeneID: 79036
NCBI-ProteinID: NP_001165419
OMIM: 615178
HGNC: 28420
UniProt: Q9BQD3
LinkDB
Position
19:18557870..18569378
AA seq 176 aa
MDLPDSASRVFCGRILSMVNTDDVNAIILAQKNMLDRFEKTNEMLLNFNNLSSARLQQMS
ERFLHHTRTLVEMKRDLDSIFRRIRTLKGKLARQHPEAFSHIPEASFLEEEDEDPIPPST
TTTIATSEQSTGSCDTSPDTVSPSLSPGFEDLSHVQPGSPAINGRSQTDDEEMTGE
NT seq 531 nt   +upstreamnt  +downstreamnt
atggacctcccggactcggcctcgagggtcttctgcggccgcatcctgagcatggtgaac
acagatgatgtcaacgccatcatcctggcccagaagaacatgctggaccgctttgagaag
accaatgagatgctgctcaacttcaacaacctgtccagtgcccgcctgcagcagatgagc
gaacgcttcctgcaccacacgaggaccctagtagagatgaaacgggacctggacagcatc
ttccgccgtatcaggacgctgaaagggaaactggccaggcagcacccagaggccttcagc
catatcccagaggcatccttcctggaggaagaggatgaagaccccatcccacccagcacc
acgaccaccattgccacctcagaacagagcacgggctcatgtgacaccagccccgacacc
gtctcgccctccctgagccccggcttcgaggacctgtcccatgtccagcctggctcccca
gccatcaacggccgcagccagacagatgacgaggagatgacgggcgaatag

KEGG   Homo sapiens (human): 118426
Entry
118426            CDS       T01001                                 
Symbol
BORCS5, LOH12CR1, LOH1CR12
Name
(RefSeq) BLOC-1-related complex subunit 5 isoform 1
  KO
K20819  BLOC-1 related complex subunit 5
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome biogenesis
Network
nt06181  Salmonella
  Element
N01297  Arl8-regulated microtubule plus-end directed transport
Disease
H02839  Infantile-onset neurodegeneration with optic atrophy and brain abnormalities
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome biogenesis
    118426 (BORCS5)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    118426 (BORCS5)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Arf GTPases and associated proteins
   BLOC-one-related complex (BORC)
    118426 (BORCS5)
SSDB
Motif
Pfam: LOH1CR12 MEKK4_N DUF1664 POX
Other DBs
NCBI-GeneID: 118426
NCBI-ProteinID: NP_477517
OMIM: 616598
HGNC: 17950
Ensembl: ENSP00000321546.4
UniProt: Q969J3
LinkDB
Position
12:12357078..12471233
AA seq 196 aa
MGSEQSSEAESRPNDLNSSVTPSPAKHRAKMDDIVVVAQGSQASRNVSNDPDVIKLQEIP
TFQPLLKGLLSGQTSPTNAKLEKLDSQQVLQLCLRYQDHLHQCAEAVAFDQNALVKRIKE
MDLSVETLFSFMQERQKRYAKYAEQIQKVNEMSAILRRIQMGIDQTVPLLDRLNSMLPEG
ERLEPFSMKPDRELRL
NT seq 591 nt   +upstreamnt  +downstreamnt
atgggcagtgagcagagctccgaggccgagagccgacccaacgatctgaactcctcagtg
actccttcaccagccaagcatagagccaagatggatgatattgtggttgtagctcagggc
tcccaggcctcacggaacgtcagcaacgatcccgatgtcatcaagttgcaagagattcca
accttccagccccttttgaaagggctattgagtggccagacttccccaacaaatgccaaa
ttggagaaactggactctcagcaggtgttgcagctctgcctccgatatcaagatcacctg
catcagtgtgcagaggccgttgcttttgaccagaatgctttggttaaacgaatcaaagag
atggatctgtctgtagaaactctgttcagcttcatgcaggagcgccagaaaagatacgcc
aagtatgccgagcagatccagaaagtgaacgagatgtccgccatcctccgccgcatacag
atgggcatcgaccagactgtgcccctgctggacaggctcaacagcatgctgcccgagggc
gagcggctggagcccttcagcatgaagcccgaccgcgagctcaggctgtag

KEGG   Homo sapiens (human): 54785
Entry
54785             CDS       T01001                                 
Symbol
BORCS6, C17orf59, PRO2472
Name
(RefSeq) BLOC-1-related complex subunit 6
  KO
K20820  BLOC-1 related complex subunit 6
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome biogenesis
Network
nt06181  Salmonella
  Element
N01297  Arl8-regulated microtubule plus-end directed transport
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome biogenesis
    54785 (BORCS6)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    54785 (BORCS6)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Arf GTPases and associated proteins
   BLOC-one-related complex (BORC)
    54785 (BORCS6)
SSDB
Motif
Pfam: BORCS6 SCGB3A Mce4_CUP1
Other DBs
NCBI-GeneID: 54785
NCBI-ProteinID: NP_060092
OMIM: 616599
HGNC: 25939
Ensembl: ENSP00000373669.4
UniProt: Q96GS4
LinkDB
Position
17:complement(8188345..8190180)
AA seq 357 aa
MESSRGRPGPETDLLAVAEHQALVFGGGPGRTSSEPPAGLRVSGEEETENVGGANRHPRT
SPKTSSCGVVHRPEREALENEPGPQGTLSGAGSRRGAPGAEHEPSLSSRHKNPAPPEGKP
SSGRDCRRGGPGGGMDVEQQEEEDNDEEAAAGSRAGRSFSSRLQDSRSLDGLSEACGGAG
SSGSAESGAGGGRRATISSPLELEGTVSRHGDLTHFVANNLQLKIRLSGAPPPPPSAPAR
PCPAPAPTPTPAIPPIDPEVLRDLERLSRELGGRVDRLLRGLGGAVQELTALSVGCIQTY
RDAVDSLGEAVDMSIKGMYTLLARCEELERALQPVQGLARQVRDIRRTLEVLEALCK
NT seq 1074 nt   +upstreamnt  +downstreamnt
atggagtcgtctcgggggcggcccgggcccgagacggaccttctggctgtagcggaacat
caggccctagtctttggcggcgggccgggccgaacgtcctctgagccgcccgcaggcctc
cgggtgtccggggaggaagagaccgagaacgttgggggcgcgaaccgccaccccaggacg
tccccgaagacgtcaagctgcggcgtcgtccaccggccggaacgggaggctctggagaac
gagcccggccctcaagggacgctgtctggggccgggagccgcaggggggcgccgggtgca
gagcacgaaccttccctgtcctcccggcacaagaacccggcgccgcccgagggcaagccc
tcctccgggagggactgccgtcgagggggaccaggcggcgggatggatgttgagcagcag
gaggaggaagacaacgacgaggaggcggccgcgggcagcagagccggccgctcgttctcc
agccgtcttcaggacagccgcagcctggacgggctgagcgaggcgtgcggtggcgccggg
tcctcagggagtgccgagtccggcgcgggcggcggacgccgcgccaccatctccagtccc
ctggagctcgaaggcacagtgagccgccacggcgaccttacccactttgtcgccaacaac
ctgcaactcaagatccgtctgagcggcgcgcctccacccccgccttctgcccctgcgcgg
ccctgcccagcgcctgcacccacacccacaccggccattcccccaatcgaccccgaggtg
ctgcgggatctggagcggttgagtcgggagctgggaggccgggtggaccgtctgcttcgc
ggtctgggtggcgcggtgcaggagctgacggcgctgagcgtgggttgcatccagacctac
cgcgatgctgtggactccttaggtgaagccgtggacatgagcatcaagggcatgtacacc
ctgctggcgcgctgcgaggagctggagcgggctctgcagccggttcaggggctggcgcgc
caagtccgggatatccgacgtactctggaggtgttggaggccctgtgcaagtga

KEGG   Homo sapiens (human): 119032
Entry
119032            CDS       T01001                                 
Symbol
BORCS7, C10orf32
Name
(RefSeq) BLOC-1-related complex subunit 7
  KO
K20821  BLOC-1 related complex subunit 7
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome biogenesis
Network
nt06181  Salmonella
  Element
N01297  Arl8-regulated microtubule plus-end directed transport
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome biogenesis
    119032 (BORCS7)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    119032 (BORCS7)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Arf GTPases and associated proteins
   BLOC-one-related complex (BORC)
    119032 (BORCS7)
SSDB
Motif
Pfam: BORCS7 CorA
Other DBs
NCBI-GeneID: 119032
NCBI-ProteinID: NP_001129672
OMIM: 616600
HGNC: 23516
Ensembl: ENSP00000342331.5
UniProt: Q96B45 A0A0B4J1R7
LinkDB
Position
10:102854259..102864961
AA seq 106 aa
MMATGTPESQARFGQSVKGLLTEKVTTCGTDVIALTKQVLKGSRSSELLGQAARNMVLQE
DAILHSEDSLRKMAIITTHLQYQQEAIQKNVEQSSDLQDQLNHLLK
NT seq 321 nt   +upstreamnt  +downstreamnt
atgatggcgactggaacgccagagtctcaagcgcggttcggtcagtccgtgaaggggctt
ctcacggagaaggtgaccacctgtggtactgacgtaatcgcgctcaccaagcaggtgctg
aaaggctcccggagctccgagctgctaggtcaggcagctcgaaacatggtactccaggaa
gatgccatcttgcactcagaagatagtttaaggaagatggcaataataacaacacatctt
caataccagcaagaagctattcagaagaatgttgaacagtcatcggatctacaggaccag
ttgaatcatctgttgaaatag

KEGG   Homo sapiens (human): 729991
Entry
729991            CDS       T01001                                 
Symbol
BORCS8, MEF2BNB, NDOABA
Name
(RefSeq) BLOC-1-related complex subunit 8 isoform 1
  KO
K20822  BLOC-1 related complex subunit 8
Organism
hsa  Homo sapiens (human)
Pathway
hsa04142  Lysosome biogenesis
Network
nt06181  Salmonella
  Element
N01297  Arl8-regulated microtubule plus-end directed transport
Disease
H02839  Infantile-onset neurodegeneration with optic atrophy and brain abnormalities
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome biogenesis
    729991 (BORCS8)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    729991 (BORCS8)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Arf GTPases and associated proteins
   BLOC-one-related complex (BORC)
    729991 (BORCS8)
SSDB
Motif
Pfam: BORCS8 Serine_rich
Other DBs
NCBI-GeneID: 729991
NCBI-ProteinID: NP_001139256
OMIM: 616601
HGNC: 37247
Ensembl: ENSP00000425864.1
UniProt: Q96FH0
LinkDB
Position
19:complement(19176906..19192152)
AA seq 119 aa
MEEPEMQLKGKKVTDKFTESVYVLANEPSVALYRLQEHVRRSLPELAQHKADMQRWEEQS
QGAIYTVEYACSAVKNLVDSSVYFRSVEGLLKQAISIRDHMNASAQGHSPEEPPPPSSA
NT seq 360 nt   +upstreamnt  +downstreamnt
atggaggagccggagatgcagctcaaggggaagaaagtcacggacaagttcactgagagc
gtctacgtcctggccaacgagccatccgtggccctgtaccggctgcaggagcatgtgcgt
cgctccctccccgagctggcccagcacaaggcagacatgcagcgttgggaggagcagagc
cagggagccatctacactgtggagtacgcctgcagcgccgtgaagaacctggtggacagc
agcgtctacttccgcagcgtggagggtctgctcaaacaggccatcagcatccgggaccat
atgaatgccagtgcccagggccacagcccggaggaaccacccccgccctcctcagcctga

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