KEGG T01001: 1080

Homo sapiens (human): 1080

Entry

1080 CDS T01001

Gene name

CFTR, ABC35, ABCC7, CF, CFTR/MRP, MRP7, TNR-CFTR, dJ760C5.1

Definition

cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (EC:3.6.3.49)

Orthology

K05031

cystic fibrosis transmembrane conductance regulator [EC:3.6.3.49]

Organism

hsa Homo sapiens (human)

Pathway

hsa02010	ABC transporters
hsa04971	Gastric acid secretion
hsa04972	Pancreatic secretion
hsa04976	Bile secretion
hsa05110	Vibrio cholerae infection

Disease

H00218	Cystic fibrosis (CF)
H00933	Hereditary pancreatitis
H01033	Congenital bilateral absence of vas deferens

Drug target

Suramin sodium:

D00808

Ivacaftor:

D09916

Other:

D10134

Class

Environmental Information Processing; Membrane transport; ABC transporters [PATH:hsa02010]
Organismal Systems; Digestive system; Gastric acid secretion [PATH:hsa04971]
Organismal Systems; Digestive system; Pancreatic secretion [PATH:hsa04972]
Organismal Systems; Digestive system; Bile secretion [PATH:hsa04976]
Human Diseases; Infectious diseases; Vibrio cholerae infection [PATH:hsa05110]

SSDB

Motif

Pfam:

CFTR_R ABC_membrane ABC_tran AAA_21 SMC_N AAA_29 AAA_16 T2SE Miro DUF87 AAA_15 AAA_25 DUF258 ArgK MMR_HSR1 Zeta_toxin AAA_23 AAA_30 NTPase_1 Rotamase_2

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Structure

PDB:

2PZE 2PZG 2PZF 2BBS 1XMI 2BBT 1XMJ 2BBO

Position

7q31.2

AA seq 1480 aa
MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRE
LASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIA
IYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQL
VSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGL
GRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAA
YVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQT
WYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRK
TSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEG
KIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIV
LGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTR
ILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNS
ILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQ
MNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQG
QNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESI
PAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRN
NSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAP
MSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATV
PVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHK
ALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIM
STLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKK
DDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRL
LNTEGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVAD
EVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPVT
YQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQA
ISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL

NT seq 4443 nt +upstreamnt +downstreamnt
atgcagaggtcgcctctggaaaaggccagcgttgtctccaaactttttttcagctggacc
agaccaattttgaggaaaggatacagacagcgcctggaattgtcagacatataccaaatc
ccttctgttgattctgctgacaatctatctgaaaaattggaaagagaatgggatagagag
ctggcttcaaagaaaaatcctaaactcattaatgcccttcggcgatgttttttctggaga
tttatgttctatggaatctttttatatttaggggaagtcaccaaagcagtacagcctctc
ttactgggaagaatcatagcttcctatgacccggataacaaggaggaacgctctatcgcg
atttatctaggcataggcttatgccttctctttattgtgaggacactgctcctacaccca
gccatttttggccttcatcacattggaatgcagatgagaatagctatgtttagtttgatt
tataagaagactttaaagctgtcaagccgtgttctagataaaataagtattggacaactt
gttagtctcctttccaacaacctgaacaaatttgatgaaggacttgcattggcacatttc
gtgtggatcgctcctttgcaagtggcactcctcatggggctaatctgggagttgttacag
gcgtctgccttctgtggacttggtttcctgatagtccttgccctttttcaggctgggcta
gggagaatgatgatgaagtacagagatcagagagctgggaagatcagtgaaagacttgtg
attacctcagaaatgattgaaaatatccaatctgttaaggcatactgctgggaagaagca
atggaaaaaatgattgaaaacttaagacaaacagaactgaaactgactcggaaggcagcc
tatgtgagatacttcaatagctcagccttcttcttctcagggttctttgtggtgttttta
tctgtgcttccctatgcactaatcaaaggaatcatcctccggaaaatattcaccaccatc
tcattctgcattgttctgcgcatggcggtcactcggcaatttccctgggctgtacaaaca
tggtatgactctcttggagcaataaacaaaatacaggatttcttacaaaagcaagaatat
aagacattggaatataacttaacgactacagaagtagtgatggagaatgtaacagccttc
tgggaggagggatttggggaattatttgagaaagcaaaacaaaacaataacaatagaaaa
acttctaatggtgatgacagcctcttcttcagtaatttctcacttcttggtactcctgtc
ctgaaagatattaatttcaagatagaaagaggacagttgttggcggttgctggatccact
ggagcaggcaagacttcacttctaatggtgattatgggagaactggagccttcagagggt
aaaattaagcacagtggaagaatttcattctgttctcagttttcctggattatgcctggc
accattaaagaaaatatcatctttggtgtttcctatgatgaatatagatacagaagcgtc
atcaaagcatgccaactagaagaggacatctccaagtttgcagagaaagacaatatagtt
cttggagaaggtggaatcacactgagtggaggtcaacgagcaagaatttctttagcaaga
gcagtatacaaagatgctgatttgtatttattagactctccttttggatacctagatgtt
ttaacagaaaaagaaatatttgaaagctgtgtctgtaaactgatggctaacaaaactagg
attttggtcacttctaaaatggaacatttaaagaaagctgacaaaatattaattttgcat
gaaggtagcagctatttttatgggacattttcagaactccaaaatctacagccagacttt
agctcaaaactcatgggatgtgattctttcgaccaatttagtgcagaaagaagaaattca
atcctaactgagaccttacaccgtttctcattagaaggagatgctcctgtctcctggaca
gaaacaaaaaaacaatcttttaaacagactggagagtttggggaaaaaaggaagaattct
attctcaatccaatcaactctatacgaaaattttccattgtgcaaaagactcccttacaa
atgaatggcatcgaagaggattctgatgagcctttagagagaaggctgtccttagtacca
gattctgagcagggagaggcgatactgcctcgcatcagcgtgatcagcactggccccacg
cttcaggcacgaaggaggcagtctgtcctgaacctgatgacacactcagttaaccaaggt
cagaacattcaccgaaagacaacagcatccacacgaaaagtgtcactggcccctcaggca
aacttgactgaactggatatatattcaagaaggttatctcaagaaactggcttggaaata
agtgaagaaattaacgaagaagacttaaaggagtgcttttttgatgatatggagagcata
ccagcagtgactacatggaacacataccttcgatatattactgtccacaagagcttaatt
tttgtgctaatttggtgcttagtaatttttctggcagaggtggctgcttctttggttgtg
ctgtggctccttggaaacactcctcttcaagacaaagggaatagtactcatagtagaaat
aacagctatgcagtgattatcaccagcaccagttcgtattatgtgttttacatttacgtg
ggagtagccgacactttgcttgctatgggattcttcagaggtctaccactggtgcatact
ctaatcacagtgtcgaaaattttacaccacaaaatgttacattctgttcttcaagcacct
atgtcaaccctcaacacgttgaaagcaggtgggattcttaatagattctccaaagatata
gcaattttggatgaccttctgcctcttaccatatttgacttcatccagttgttattaatt
gtgattggagctatagcagttgtcgcagttttacaaccctacatctttgttgcaacagtg
ccagtgatagtggcttttattatgttgagagcatatttcctccaaacctcacagcaactc
aaacaactggaatctgaaggcaggagtccaattttcactcatcttgttacaagcttaaaa
ggactatggacacttcgtgccttcggacggcagccttactttgaaactctgttccacaaa
gctctgaatttacatactgccaactggttcttgtacctgtcaacactgcgctggttccaa
atgagaatagaaatgatttttgtcatcttcttcattgctgttaccttcatttccatttta
acaacaggagaaggagaaggaagagttggtattatcctgactttagccatgaatatcatg
agtacattgcagtgggctgtaaactccagcatagatgtggatagcttgatgcgatctgtg
agccgagtctttaagttcattgacatgccaacagaaggtaaacctaccaagtcaaccaaa
ccatacaagaatggccaactctcgaaagttatgattattgagaattcacacgtgaagaaa
gatgacatctggccctcagggggccaaatgactgtcaaagatctcacagcaaaatacaca
gaaggtggaaatgccatattagagaacatttccttctcaataagtcctggccagagggtg
ggcctcttgggaagaactggatcagggaagagtactttgttatcagcttttttgagacta
ctgaacactgaaggagaaatccagatcgatggtgtgtcttgggattcaataactttgcaa
cagtggaggaaagcctttggagtgataccacagaaagtatttattttttctggaacattt
agaaaaaacttggatccctatgaacagtggagtgatcaagaaatatggaaagttgcagat
gaggttgggctcagatctgtgatagaacagtttcctgggaagcttgactttgtccttgtg
gatgggggctgtgtcctaagccatggccacaagcagttgatgtgcttggctagatctgtt
ctcagtaaggcgaagatcttgctgcttgatgaacccagtgctcatttggatccagtaaca
taccaaataattagaagaactctaaaacaagcatttgctgattgcacagtaattctctgt
gaacacaggatagaagcaatgctggaatgccaacaatttttggtcatagaagagaacaaa
gtgcggcagtacgattccatccagaaactgctgaacgagaggagcctcttccggcaagcc
atcagcccctccgacagggtgaagctctttccccaccggaactcaagcaagtgcaagtct
aagccccagattgctgctctgaaagaggagacagaagaagaggtgcaagatacaaggctt
tag

All links

Ontology (3)   
   KEGG BRITE (3)   
Pathway (5)   
   KEGG PATHWAY (5)   
Disease (8)   
   KEGG DISEASE (3)   
   OMIM (5)   
Drug (3)   
   KEGG DRUG (3)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (16)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (5)   
   UniGene (3)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   NAGAHAMA-S (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (2)   
   UniProt (1)   
   RefSeq(pep) (1)   
DNA sequence (11)   
   RefSeq(nuc) (1)   
   GenBank (5)   
   EMBL (5)   
3D Structure (8)   
   PDB (8)   
Protein domain (20)   
   Pfam (20)   
All databases (78)   

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