| Entry |
|
| Gene name |
TAP1, ABC17, ABCB2, APT1, D6S114E, PSF-1, PSF1, RING4, TAP1*0102N, TAP1N
|
| Definition |
transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
|
| Orthology |
| ATP-binding cassette, subfamily B (MDR/TAP), member 2 |
|
| Organism |
|
| Pathway |
| ABC transporters | | Phagosome | | Antigen processing and presentation | | Herpes simplex infection | | Primary immunodeficiency |
|
| Disease |
| Combined immunodeficiencies (CIDs) | | Bare lymphocyte syndrome (BLS) type1 |
|
| Class |
Environmental Information Processing; Membrane transport; ABC transporters [PATH: hsa02010]
Cellular Processes; Transport and catabolism; Phagosome [PATH: hsa04145]
Organismal Systems; Immune system; Antigen processing and presentation [PATH: hsa04612]
Human Diseases; Immune diseases; Primary immunodeficiency [PATH: hsa05340]
Human Diseases; Infectious diseases; Herpes simplex infection [PATH: hsa05168]
 |
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
| Structure |
PDB: |
| Position |
6p21.3
|
| AA seq |
808 aa  
MAELLASAGSACSWDFPRAPPSFPPPAASRGGLGGTRSFRPHRGAESPRPGRDRDGVRVP
MASSRCPAPRGCRCLPGASLAWLGTVLLLLADWVLLRTALPRIFSLLVPTALPLLRVWAV
GLSRWAVLWLGACGVLRATVGSKSENAGAQGWLAALKPLAAALGLALPGLALFRELISWG
APGSADSTRLLHWGSHPTAFVVSYAAALPAAALWHKLGSLWVPGGQGGSGNPVRRLLGCL
GSETRRLSLFLVLVVLSSLGEMAIPFFTGRLTDWILQDGSADTFTRNLTLMSILTIASAV
LEFVGDGIYNNTMGHVHSHLQGEVFGAVLRQETEFFQQNQTGNIMSRVTEDTSTLSDSLS
ENLSLFLWYLVRGLCLLGIMLWGSVSLTMVTLITLPLLFLLPKKVGKWYQLLEVQVRESL
AKSSQVAIEALSAMPTVRSFANEEGEAQKFREKLQEIKTLNQKEAVAYAVNSWTTSISGM
LLKVGILYIGGQLVTSGAVSSGNLVTFVLYQMQFTQAVEVLLSIYPRVQKAVGSSEKIFE
YLDRTPRCPPSGLLTPLHLEGLVQFQDVSFAYPNRPDVLVLQGLTFTLRPGEVTALVGPN
GSGKSTVAALLQNLYQPTGGQLLLDGKPLPQYEHRYLHRQVAAVGQEPQVFGRSLQENIA
YGLTQKPTMEEITAAAVKSGAHSFISGLPQGYDTEVDEAGSQLSGGQRQAVALARALIRK
PCVLILDDATSALDANSQLQVEQLLYESPERYSRSVLLITQHLSLVEQADHILFLEGGAI
REGGTHQQLMEKKGCYWAMVQAPADAPE |
| NT seq |
2427 nt  +upstreamnt +downstreamnt
atggctgagcttctcgccagcgcaggatcagcctgttcctgggactttccgagagccccg
ccctcgttccctcccccagccgccagtaggggaggactcggcggtacccggagcttcagg
ccccaccggggcgcggagagtcccaggcccggccgggaccgggacggcgtccgagtgcca
atggctagctctaggtgtcccgctccccgcgggtgccgctgcctccccggagcttctctc
gcatggctggggacagtactgctacttctcgccgactgggtgctgctccggaccgcgctg
ccccgcatattctccctgctggtgcccaccgcgctgccactgctccgggtctgggcggtg
ggcctgagccgctgggccgtgctctggctgggggcctgcggggtcctcagggcaacggtt
ggctccaagagcgaaaacgcaggtgcccagggctggctggctgctttgaagccattagct
gcggcactgggcttggccctgccgggacttgccttgttccgagagctgatctcatgggga
gcccccgggtccgcggatagcaccaggctactgcactggggaagtcaccctaccgccttc
gttgtcagttatgcagcggcactgcccgcagcagccctgtggcacaaactcgggagcctc
tgggtgcccggcggtcagggcggctctggaaaccctgtgcgtcggcttctaggctgcctg
ggctcggagacgcgccgcctctcgctgttcctggtcctggtggtcctctcctctcttggg
gagatggccattccattctttacgggccgcctcactgactggattctacaagatggctca
gccgataccttcactcgaaacttaactctcatgtccattctcaccatagccagtgcagtg
ctggagttcgtgggtgacgggatctataacaacaccatgggccacgtgcacagccacttg
cagggagaggtgtttggggctgtcctgcgccaggagacggagtttttccaacagaaccag
acaggtaacatcatgtctcgggtaacagaggacacgtccaccctgagtgattctctgagt
gagaatctgagcttatttctgtggtacctggtgcgaggcctatgtctcttggggatcatg
ctctggggatcagtgtccctcaccatggtcaccctgatcaccctgcctctgcttttcctt
ctgcccaagaaggtgggaaaatggtaccagttgctggaagtgcaggtgcgggaatctctg
gcaaagtccagccaggtggccattgaggctctgtcggccatgcctacagttcgaagcttt
gccaacgaggagggcgaagcccagaagtttagggaaaagctgcaagaaataaagacactc
aaccagaaggaggctgtggcctatgcagtcaactcctggaccactagtatttcaggtatg
ctgctgaaagtgggaatcctctacattggtgggcagctggtgaccagtggggctgtaagc
agtgggaaccttgtcacatttgttctctaccagatgcagttcacccaggctgtggaggta
ctgctctccatctaccccagagtacagaaggctgtgggctcctcagagaaaatatttgag
tacctggaccgcacccctcgctgcccacccagtggtctgttgactcccttacacttggag
ggccttgtccagttccaagatgtctcctttgcctacccaaaccgcccagatgtcttagtg
ctacaggggctgacattcaccctacgccctggcgaggtgacggcgctggtgggacccaat
gggtctgggaagagcacagtggctgccctgctgcagaatctgtaccagcccaccggggga
cagctgctgttggatgggaagccccttccccaatatgagcaccgctacctgcacaggcag
gtggctgcagtgggacaagagccacaggtatttggaagaagtcttcaagaaaatattgcc
tatggcctgacccagaagccaactatggaggaaatcacagctgctgcagtaaagtctggg
gcccatagtttcatctctggactccctcagggctatgacacagaggtagacgaggctggg
agccagctgtcagggggtcagcgacaggcagtggcgttggcccgagcattgatccggaaa
ccgtgtgtacttatcctggatgatgccaccagtgccctggatgcaaacagccagttacag
gtggagcagctcctgtacgaaagccctgagcggtactcccgctcagtgcttctcatcacc
cagcacctcagcctggtggagcaggctgaccacatcctctttctggaaggaggcgctatc
cgggaggggggaacccaccagcagctcatggagaaaaaggggtgctactgggccatggtg
caggctcctgcagatgctccagaatga |