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Copy pathNM_003742.gb
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NM_003742.gb
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LOCUS NM_003742 6934 bp mRNA linear PRI 21-NOV-2023
DEFINITION Homo sapiens ATP binding cassette subfamily B member 11 (ABCB11),
mRNA.
ACCESSION NM_003742
VERSION NM_003742.4
KEYWORDS RefSeq; MANE Select.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 6934)
AUTHORS Liu H, Irobalieva RN, Kowal J, Ni D, Nosol K, Bang-Sorensen R,
Lancien L, Stahlberg H, Stieger B and Locher KP.
TITLE Structural basis of bile salt extrusion and small-molecule
inhibition in human BSEP
JOURNAL Nat Commun 14 (1), 7296 (2023)
PUBMED 37949847
REMARK GeneRIF: Structural basis of bile salt extrusion and small-molecule
inhibition in human BSEP.
Publication Status: Online-Only
REFERENCE 2 (bases 1 to 6934)
AUTHORS Pfister ED, Jaeger VK, Karch A, Shay D, Schukfeh N, Ohlendorf J,
Junge N, Goldschmidt I, Stalke A, Keitel-Anselmino V and Baumann U.
TITLE Native liver survival in bile salt export pump deficiency: results
of a retrospective cohort study
JOURNAL Hepatol Commun 7 (4), e0092 (2023)
PUBMED 36995996
REMARK GeneRIF: Native liver survival in bile salt export pump deficiency:
results of a retrospective cohort study.
Publication Status: Online-Only
REFERENCE 3 (bases 1 to 6934)
AUTHORS Nayagam JS, Foskett P, Strautnieks S, Agarwal K, Miquel R, Joshi D
and Thompson RJ.
TITLE Clinical phenotype of adult-onset liver disease in patients with
variants in ABCB4, ABCB11, and ATP8B1
JOURNAL Hepatol Commun 6 (10), 2654-2664 (2022)
PUBMED 35894240
REMARK GeneRIF: Clinical phenotype of adult-onset liver disease in
patients with variants in ABCB4, ABCB11, and ATP8B1.
REFERENCE 4 (bases 1 to 6934)
AUTHORS Selim N, Omair H, El-Karaksy H, Fathy M, Mahmoud E, Baroudy S,
Fathy M and Yassin N.
TITLE A study of exons 14, 15, and 24 of the ABCB11 gene in Egyptian
children with normal GGT cholestasis
JOURNAL Arab J Gastroenterol 23 (1), 15-19 (2022)
PUBMED 35153175
REMARK GeneRIF: A study of exons 14, 15, and 24 of the ABCB11 gene in
Egyptian children with normal GGT cholestasis.
REFERENCE 5 (bases 1 to 6934)
AUTHORS Wang R, Salem M, Yousef IM, Tuchweber B, Lam P, Childs SJ, Helgason
CD, Ackerley C, Phillips MJ and Ling V.
TITLE Targeted inactivation of sister of P-glycoprotein gene (spgp) in
mice results in nonprogressive but persistent intrahepatic
cholestasis
JOURNAL Proc Natl Acad Sci U S A 98 (4), 2011-2016 (2001)
PUBMED 11172067
REFERENCE 6 (bases 1 to 6934)
AUTHORS Jansen PL, Strautnieks SS, Jacquemin E, Hadchouel M, Sokal EM,
Hooiveld GJ, Koning JH, De Jager-Krikken A, Kuipers F, Stellaard F,
Bijleveld CM, Gouw A, Van Goor H, Thompson RJ and Muller M.
TITLE Hepatocanalicular bile salt export pump deficiency in patients with
progressive familial intrahepatic cholestasis
JOURNAL Gastroenterology 117 (6), 1370-1379 (1999)
PUBMED 10579978
REFERENCE 7 (bases 1 to 6934)
AUTHORS Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H,
Sokal E, Dahan K, Childs S, Ling V, Tanner MS, Kagalwalla AF,
Nemeth A, Pawlowska J, Baker A, Mieli-Vergani G, Freimer NB,
Gardiner RM and Thompson RJ.
TITLE A gene encoding a liver-specific ABC transporter is mutated in
progressive familial intrahepatic cholestasis
JOURNAL Nat Genet 20 (3), 233-238 (1998)
PUBMED 9806540
REFERENCE 8 (bases 1 to 6934)
AUTHORS Gerloff T, Stieger B, Hagenbuch B, Madon J, Landmann L, Roth J,
Hofmann AF and Meier PJ.
TITLE The sister of P-glycoprotein represents the canalicular bile salt
export pump of mammalian liver
JOURNAL J Biol Chem 273 (16), 10046-10050 (1998)
PUBMED 9545351
REFERENCE 9 (bases 1 to 6934)
AUTHORS Amendola,M. and Squires,J.E.
TITLE Pediatric Genetic Cholestatic Liver Disease Overview
JOURNAL (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH,
Gripp KW and Amemiya A (Eds.);
GENEREVIEWS(R);
(1993)
PUBMED 36108118
REFERENCE 10 (bases 1 to 6934)
AUTHORS Bull,L.N., Morotti,R. and Squires,J.E.
TITLE ATP8B1 Deficiency
JOURNAL (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH,
Gripp KW and Amemiya A (Eds.);
GENEREVIEWS(R);
(1993)
PUBMED 20301474
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AC008177.3, AF091582.1,
AC069137.6 and CB161524.1.
This sequence is a reference standard in the RefSeqGene project.
On May 8, 2018 this sequence version replaced NM_003742.3.
Summary: The membrane-associated protein encoded by this gene is a
member of the superfamily of ATP-binding cassette (ABC)
transporters. ABC proteins transport various molecules across
extra- and intra-cellular membranes. ABC genes are divided into
seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20,
White). This protein is a member of the MDR/TAP subfamily. Members
of the MDR/TAP subfamily are involved in multidrug resistance. The
protein encoded by this gene is the major canalicular bile salt
export pump in man. Mutations in this gene cause a form of
progressive familial intrahepatic cholestases which are a group of
inherited disorders with severe cholestatic liver disease from
early infancy. [provided by RefSeq, Jul 2008].
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AF091582.1, AF136523.1 [ECO:0000332]
RNAseq introns :: mixed sample support SAMEA1965299,
SAMEA1966682 [ECO:0006172]
##Evidence-Data-END##
##RefSeq-Attributes-START##
MANE Ensembl match :: ENST00000650372.1/ ENSP00000497931.1
RefSeq Select criteria :: based on manual assertion, conservation,
expression
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-1 AC008177.3 92136-92136 c
2-1141 AF091582.1 1-1140
1142-1142 AC008177.3 46990-46990 c
1143-4169 AF091582.1 1142-4168
4170-6928 AC069137.6 90425-93183 c
6929-6934 CB161524.1 17-22 c
FEATURES Location/Qualifiers
source 1..6934
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2q31.1"
gene 1..6934
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="ATP binding cassette subfamily B member 11"
/db_xref="GeneID:8647"
/db_xref="HGNC:HGNC:42"
/db_xref="MIM:603201"
exon 1..100
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/inference="alignment:Splign:2.1.0"
misc_feature 8..10
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="upstream in-frame stop codon"
exon 101..203
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/inference="alignment:Splign:2.1.0"
CDS 128..4093
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="progressive familial intrahepatic cholestasis 2;
ABC member 16, MDR/TAP subfamily; sister p-glycoprotein;
ATP-binding cassette sub-family B member 11; ATP-binding
cassette, sub-family B (MDR/TAP), member 11"
/codon_start=1
/product="bile salt export pump"
/protein_id="NP_003733.2"
/db_xref="CCDS:CCDS46444.1"
/db_xref="GeneID:8647"
/db_xref="HGNC:HGNC:42"
/db_xref="MIM:603201"
/translation="MSDSVILRSIKKFGEENDGFESDKSYNNDKKSRLQDEKKGDGVR
VGFFQLFRFSSSTDIWLMFVGSLCAFLHGIAQPGVLLIFGTMTDVFIDYDVELQELQI
PGKACVNNTIVWTNSSLNQNMTNGTRCGLLNIESEMIKFASYYAGIAVAVLITGYIQI
CFWVIAAARQIQKMRKFYFRRIMRMEIGWFDCNSVGELNTRFSDDINKINDAIADQMA
LFIQRMTSTICGFLLGFFRGWKLTLVIISVSPLIGIGAATIGLSVSKFTDYELKAYAK
AGVVADEVISSMRTVAAFGGEKREVERYEKNLVFAQRWGIRKGIVMGFFTGFVWCLIF
LCYALAFWYGSTLVLDEGEYTPGTLVQIFLSVIVGALNLGNASPCLEAFATGRAAATS
IFETIDRKPIIDCMSEDGYKLDRIKGEIEFHNVTFHYPSRPEVKILNDLNMVIKPGEM
TALVGPSGAGKSTALQLIQRFYDPCEGMVTVDGHDIRSLNIQWLRDQIGIVEQEPVLF
STTIAENIRYGREDATMEDIVQAAKEANAYNFIMDLPQQFDTLVGEGGGQMSGGQKQR
VAIARALIRNPKILLLDMATSALDNESEAMVQEVLSKIQHGHTIISVAHRLSTVRAAD
TIIGFEHGTAVERGTHEELLERKGVYFTLVTLQSQGNQALNEEDIKDATEDDMLARTF
SRGSYQDSLRASIRQRSKSQLSYLVHEPPLAVVDHKSTYEEDRKDKDIPVQEEVEPAP
VRRILKFSAPEWPYMLVGSVGAAVNGTVTPLYAFLFSQILGTFSIPDKEEQRSQINGV
CLLFVAMGCVSLFTQFLQGYAFAKSGELLTKRLRKFGFRAMLGQDIAWFDDLRNSPGA
LTTRLATDASQVQGAAGSQIGMIVNSFTNVTVAMIIAFSFSWKLSLVILCFFPFLALS
GATQTRMLTGFASRDKQALEMVGQITNEALSNIRTVAGIGKERRFIEALETELEKPFK
TAIQKANIYGFCFAFAQCIMFIANSASYRYGGYLISNEGLHFSYVFRVISAVVLSATA
LGRAFSYTPSYAKAKISAARFFQLLDRQPPISVYNTAGEKWDNFQGKIDFVDCKFTYP
SRPDSQVLNGLSVSISPGQTLAFVGSSGCGKSTSIQLLERFYDPDQGKVMIDGHDSKK
VNVQFLRSNIGIVSQEPVLFACSIMDNIKYGDNTKEIPMERVIAAAKQAQLHDFVMSL
PEKYETNVGSQGSQLSRGEKQRIAIARAIVRDPKILLLDEATSALDTESEKTVQVALD
KAREGRTCIVIAHRLSTIQNADIIAVMAQGVVIEKGTHEELMAQKGAYYKLVTTGSPI
S"
misc_feature 173..238
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="propagated from UniProtKB/Swiss-Prot (O95342.2);
Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
misc_feature 314..376
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="propagated from UniProtKB/Swiss-Prot (O95342.2);
transmembrane region"
misc_feature 452..454
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="N-linked (GlcNAc...) asparagine.
/evidence=ECO:0000269|PubMed:17082223; propagated from
UniProtKB/Swiss-Prot (O95342.2); glycosylation site"
misc_feature 473..475
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="N-linked (GlcNAc...) asparagine.
/evidence=ECO:0000269|PubMed:17082223; propagated from
UniProtKB/Swiss-Prot (O95342.2); glycosylation site"
misc_feature 491..493
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="N-linked (GlcNAc...) asparagine.
/evidence=ECO:0000269|PubMed:17082223; propagated from
UniProtKB/Swiss-Prot (O95342.2); glycosylation site"
misc_feature 500..502
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="N-linked (GlcNAc...) asparagine.
/evidence=ECO:0000269|PubMed:17082223; propagated from
UniProtKB/Swiss-Prot (O95342.2); glycosylation site"
misc_feature 569..631
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="propagated from UniProtKB/Swiss-Prot (O95342.2);
transmembrane region"
misc_feature 773..835
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="propagated from UniProtKB/Swiss-Prot (O95342.2);
transmembrane region"
misc_feature 848..910
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="propagated from UniProtKB/Swiss-Prot (O95342.2);
transmembrane region"
misc_feature 1085..1147
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="propagated from UniProtKB/Swiss-Prot (O95342.2);
transmembrane region"
misc_feature 1187..1249
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="propagated from UniProtKB/Swiss-Prot (O95342.2);
transmembrane region"
misc_feature 1883..1885
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="Phosphothreonine.
/evidence=ECO:0007744|PubMed:24275569; propagated from
UniProtKB/Swiss-Prot (O95342.2); phosphorylation site"
misc_feature 1886..1888
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="Phosphoserine.
/evidence=ECO:0007744|PubMed:24275569; propagated from
UniProtKB/Swiss-Prot (O95342.2); phosphorylation site"
misc_feature 2078..2143
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="propagated from UniProtKB/Swiss-Prot (O95342.2);
Region: Interaction with HAX1. /evidence=ECO:0000250"
misc_feature 2195..2197
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="Phosphoserine.
/evidence=ECO:0000250|UniProtKB:Q9QY30; propagated from
UniProtKB/Swiss-Prot (O95342.2); phosphorylation site"
misc_feature 2228..2230
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="Phosphoserine.
/evidence=ECO:0000250|UniProtKB:O70127; propagated from
UniProtKB/Swiss-Prot (O95342.2); phosphorylation site"
misc_feature 2237..2239
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="Phosphoserine.
/evidence=ECO:0007744|PubMed:24275569; propagated from
UniProtKB/Swiss-Prot (O95342.2); phosphorylation site"
misc_feature 2393..2455
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="propagated from UniProtKB/Swiss-Prot (O95342.2);
transmembrane region"
misc_feature 2510..2572
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="propagated from UniProtKB/Swiss-Prot (O95342.2);
transmembrane region"
misc_feature 2735..2797
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="propagated from UniProtKB/Swiss-Prot (O95342.2);
transmembrane region"
misc_feature 2798..2860
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="propagated from UniProtKB/Swiss-Prot (O95342.2);
transmembrane region"
misc_feature 3065..3127
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="propagated from UniProtKB/Swiss-Prot (O95342.2);
transmembrane region"
misc_feature 3161..3223
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="propagated from UniProtKB/Swiss-Prot (O95342.2);
transmembrane region"
misc_feature 3767..3769
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="Phosphoserine.
/evidence=ECO:0007744|PubMed:24275569; propagated from
UniProtKB/Swiss-Prot (O95342.2); phosphorylation site"
misc_feature 4058..4069
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="propagated from UniProtKB/Swiss-Prot (O95342.2);
Region: Mediates internalization from the plasma membrane.
/evidence=ECO:0000269|PubMed:22262466"
misc_feature 4088..4090
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="Phosphoserine.
/evidence=ECO:0000250|UniProtKB:O70127; propagated from
UniProtKB/Swiss-Prot (O95342.2); phosphorylation site"
exon 204..225
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/inference="alignment:Splign:2.1.0"
exon 226..277
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/inference="alignment:Splign:2.1.0"
exon 278..516
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/inference="alignment:Splign:2.1.0"
exon 517..604
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/inference="alignment:Splign:2.1.0"
exon 605..738
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/inference="alignment:Splign:2.1.0"
exon 739..910
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/inference="alignment:Splign:2.1.0"
exon 911..1035
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/inference="alignment:Splign:2.1.0"
exon 1036..1210
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/inference="alignment:Splign:2.1.0"
exon 1211..1324
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/inference="alignment:Splign:2.1.0"
exon 1325..1435
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/inference="alignment:Splign:2.1.0"
exon 1436..1561
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/inference="alignment:Splign:2.1.0"
exon 1562..1765
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/inference="alignment:Splign:2.1.0"
exon 1766..1936
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/inference="alignment:Splign:2.1.0"
exon 1937..2138
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/inference="alignment:Splign:2.1.0"
exon 2139..2202
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/inference="alignment:Splign:2.1.0"
exon 2203..2305
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/inference="alignment:Splign:2.1.0"
exon 2306..2470
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/inference="alignment:Splign:2.1.0"
exon 2471..2575
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/inference="alignment:Splign:2.1.0"
exon 2576..2737
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/inference="alignment:Splign:2.1.0"
exon 2738..2941
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/inference="alignment:Splign:2.1.0"
exon 2942..3183
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/inference="alignment:Splign:2.1.0"
exon 3184..3340
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/inference="alignment:Splign:2.1.0"
exon 3341..3538
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/inference="alignment:Splign:2.1.0"
exon 3539..3745
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/inference="alignment:Splign:2.1.0"
exon 3746..3892
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/inference="alignment:Splign:2.1.0"
exon 3893..6934
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/inference="alignment:Splign:2.1.0"
regulatory 6207..6212
/regulatory_class="polyA_signal_sequence"
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
/note="hexamer: AATAAA"
polyA_site 6229
/gene="ABCB11"
/gene_synonym="ABC16; BRIC2; BSEP; PFIC-2; PFIC2; PGY4;
SPGP"
ORIGIN
1 agaatgatga aaaccgaggt tggaaaaggt tgtgaaacct tttaactctc cacagtggag
61 tccattattt cctctggctt cctcaaattc atattcacag ggtcgttggc tgtgggttgc
121 aattaccatg tctgactcag taattcttcg aagtataaag aaatttggag aggagaatga
181 tggttttgag tcagataaat catataataa tgataagaaa tcaaggttac aagatgagaa
241 gaaaggtgat ggcgttagag ttggcttctt tcaattgttt cggttttctt catcaactga
301 catttggctg atgtttgtgg gaagtttgtg tgcatttctc catggaatag cccagccagg
361 cgtgctactc atttttggca caatgacaga tgtttttatt gactacgacg ttgagttaca
421 agaactccag attccaggaa aagcatgtgt gaataacacc attgtatgga ctaacagttc
481 cctcaaccag aacatgacaa atggaacacg ttgtgggttg ctgaacatcg agagcgaaat
541 gatcaaattt gccagttact atgctggaat tgctgtcgca gtacttatca caggatatat
601 tcaaatatgc ttttgggtca ttgccgcagc tcgtcagata cagaaaatga gaaaatttta
661 ctttaggaga ataatgagaa tggaaatagg gtggtttgac tgcaattcag tgggggagct
721 gaatacaaga ttctctgatg atattaataa aatcaatgat gccatagctg accaaatggc
781 ccttttcatt cagcgcatga cctcgaccat ctgtggtttc ctgttgggat ttttcagggg
841 ttggaaactg accttggtta ttatttctgt cagccctctc attgggattg gagcagccac
901 cattggtctg agtgtgtcca agtttacgga ctatgagctg aaggcctatg ccaaagcagg
961 ggtggtggct gatgaagtca tttcatcaat gagaacagtg gctgcttttg gtggtgagaa
1021 aagagaggtt gaaaggtatg agaaaaatct tgtgttcgcc cagcgttggg gaattagaaa
1081 aggaatagtg atgggattct ttactggatt cgtgtggtgt ctcatctttt tgtgttatgc
1141 actggccttc tggtacggct ccacacttgt cctggatgaa ggagaatata caccaggaac
1201 ccttgtccag attttcctca gtgtcatagt aggagcttta aatcttggca atgcctctcc
1261 ttgtttggaa gcctttgcaa ctggacgtgc agcagccacc agcatttttg agacaataga
1321 caggaaaccc atcattgact gcatgtcaga agatggttac aagttggatc gaatcaaggg
1381 tgaaattgaa ttccataatg tgaccttcca ttatccttcc agaccagagg tgaagattct
1441 aaatgacctc aacatggtca ttaaaccagg ggaaatgaca gctctggtag gacccagtgg
1501 agctggaaaa agtacagcac tgcaactcat tcagcgattc tatgacccct gtgaaggaat
1561 ggtgaccgtg gatggccatg acattcgctc tcttaacatt cagtggctta gagatcagat
1621 tgggatagtg gagcaagagc cagttctgtt ctctaccacc attgcagaaa atattcgcta
1681 tggcagagaa gatgcaacaa tggaagacat agtccaagct gccaaggagg ccaatgccta
1741 caacttcatc atggacctgc cacagcaatt tgacaccctt gttggagaag gaggaggcca
1801 gatgagtggt ggccagaaac aaagggtagc tatcgccaga gccctcatcc gaaatcccaa
1861 gattctgctt ttggacatgg ccacctcagc tctggacaat gagagtgaag ccatggtgca
1921 agaagtgctg agtaagattc agcatgggca cacaatcatt tcagttgctc atcgcttgtc
1981 tacggtcaga gctgcagata ccatcattgg ttttgaacat ggcactgcag tggaaagagg
2041 gacccatgaa gaattactgg aaaggaaagg tgtttacttc actctagtga ctttgcaaag
2101 ccagggaaat caagctctta atgaagagga cataaaggat gcaactgaag atgacatgct
2161 tgcgaggacc tttagcagag ggagctacca ggatagttta agggcttcca tccggcaacg
2221 ctccaagtct cagctttctt acctggtgca cgaacctcca ttagctgttg tagatcataa
2281 gtctacctat gaagaagata gaaaggacaa ggacattcct gtgcaggaag aagttgaacc
2341 tgccccagtt aggaggattc tgaaattcag tgctccagaa tggccctaca tgctggtagg
2401 gtctgtgggt gcagctgtga acgggacagt cacacccttg tatgcctttt tattcagcca
2461 gattcttggg actttttcaa ttcctgataa agaggaacaa aggtcacaga tcaatggtgt
2521 gtgcctactt tttgtagcaa tgggctgtgt atctcttttc acccaatttc tacagggata
2581 tgcctttgct aaatctgggg agctcctaac aaaaaggcta cgtaaatttg gtttcagggc
2641 aatgctgggg caagatattg cctggtttga tgacctcaga aatagccctg gagcattgac
2701 aacaagactt gctacagatg cttcccaagt tcaaggggct gccggctctc agatcgggat
2761 gatagtcaat tccttcacta acgtcactgt ggccatgatc attgccttct cctttagctg
2821 gaagctgagc ctggtcatct tgtgcttctt ccccttcttg gctttatcag gagccacaca
2881 gaccaggatg ttgacaggat ttgcctctcg agataagcag gccctggaga tggtgggaca
2941 gattacaaat gaagccctca gtaacatccg cactgttgct ggaattggaa aggagaggcg
3001 gttcattgaa gcacttgaga ctgagctgga gaagcccttc aagacagcca ttcagaaagc
3061 caatatttac ggattctgct ttgcctttgc ccagtgcatc atgtttattg cgaattctgc
3121 ttcctacaga tatggaggtt acttaatctc caatgagggg ctccatttca gctatgtgtt
3181 cagggtgatc tctgcagttg tactgagtgc aacagctctt ggaagagcct tctcttacac
3241 cccaagttat gcaaaagcta aaatatcagc tgcacgcttt tttcaactgc tggaccgaca
3301 acccccaatc agtgtataca atactgcagg tgaaaaatgg gacaacttcc aggggaagat
3361 tgattttgtt gattgtaaat ttacatatcc ttctcgacct gactcgcaag ttctgaatgg
3421 tctctcagtg tcgattagtc cagggcagac actggcgttt gttgggagca gtggatgtgg
3481 caaaagcact agcattcagc tgttggaacg tttctatgat cctgatcaag ggaaggtgat
3541 gatagatggt catgacagca aaaaagtaaa tgtccagttc ctccgctcaa acattggaat
3601 tgtttcccag gaaccagtgt tgtttgcctg tagcataatg gacaatatca agtatggaga
3661 caacaccaaa gaaattccca tggaaagagt catagcagct gcaaaacagg ctcagctgca
3721 tgattttgtc atgtcactcc cagagaaata tgaaactaac gttgggtccc aggggtctca
3781 actctctaga ggggagaaac aacgcattgc tattgctcgg gccattgtac gagatcctaa
3841 aatcttgcta ctagatgaag ccacttctgc cttagacaca gaaagtgaaa agacggtgca
3901 ggttgctcta gacaaagcca gagagggtcg gacctgcatt gtcattgccc atcgcttgtc
3961 caccatccag aacgcggata tcattgctgt catggcacag ggggtggtga ttgaaaaggg
4021 gacccatgaa gaactgatgg cccaaaaagg agcctactac aaactagtca ccactggatc
4081 ccccatcagt tgacccaatg caagaatctc agacacacat gacgcaccag ttacaggggt
4141 tgtttttaaa gaaaaaaaca atcccagcag gagggattgc tgggattgtt ttttctttaa
4201 agaagaatgt taatatttta cttttacagt cattttccta catcggaatc caagctaatt
4261 tctaatggcc ttccataata attctgcttt agatgtgtat acagaaaatg aaagaaacta
4321 gggtccatat gagggaaaac ccaatgtcaa gtggcagctc agccaccact cagtgcttct
4381 ctgtgcagga gccagtcctg attaatatgt gggaattagt gagacatcag ggagtaagtg
4441 acactttgaa ctcctcaagg gcagagaact gtctttcatt tttgaaccct cggtgtacac
4501 agaggcgggt ctataacagg caatcaacaa acgtttcttg agctagacca aggtcagatt
4561 tgaaaagaac agaaggactg aagaccagct gtgtttctta actaaatttg tctttcaagt
4621 gaaaccagct tccttcatct ctaaggctaa ggatagggaa agggtggatg ctctcaggct
4681 gagggaggca gaaagggaaa gtattagcat gagctttcca gttagggctg ttgatttatg
4741 ctttaacttc agagtgagtg taggggtggt gatgctacca ttactgtgag gacctaccag
4801 tgtggctgga gcagggactc tctcccaggc cttttactcc tcagcacctc cctgcatact
4861 gattgttgtt tttagtttct gtgaaattat attcatgaaa tgaaaatagc gcattttact
4921 ttgctgtagt ttcataaggt tttatacaaa aaagcaagta aatatggcag aaaagcactc
4981 atttgcccct gctccctcaa aacaccacag aatgacatag aactaaaggc ggcaggaatc
5041 tacaagaatg aagaaaacac agtgatgcca cctgcaaaat cttgggagcc agaaagcaaa
5101 tggacaattg ataatagagt tacaagatga gagaaaacaa aaatgtaacc tgttagttgg
5161 gggagcctag aaacatcctg ttttgtacca cagaccccta gaaagtttca agatgtaaaa
5221 acactggatc cttctggaag gaggagacaa ggggacagag ggactgaaga cagaagaatg
5281 gaccaaaagc ctgtatggaa acagaattgc agagccccgc ctgcagcagg atggctgcct
5341 ttccccagtt ccagcgagaa actgcatact ccctctctga ggaggctcac agggaggttt
5401 gcacttagag acacaagatg aagttgaagg ggcagctaac atacaagaga cagggggatt
5461 gaatgtaaag ctgtgtatga acagaagaac tcccagcccc tctcttctgg caggagattg
5521 aagaatgatt ttctggggaa attggccaat cttagaaaag aggtcgggcc aggcgctgtg
5581 gctcactcct gtaatcccag cactttggga ggccaaggcg ggcggatcat gaggtcgaga
5641 gattgagacc atcctggcta acatggtgaa accccgtctc tactaaaaat acaaaaaaat
5701 tagccgggcg tggtggcggg cgcctgtagt cccagctact caggaggctg aggcaggaga
5761 atggcgtgaa cccgggaggt ggagcttgca gtgagccgag atcgcgccac tgcactccag
5821 cctgggcgac agagcgaaaa aaaaaaaaaa agaaaaagaa aaagaaaaga ggtcaaggac
5881 tccgtccttg gaatcctaag aaaattttcc agccgtatta cccttctatg aagcccacct
5941 gtcaaccaac aagcacccac tcgatcagag cttccccagg ctttttggtg tctcctcctt
6001 gcatgggaat tgacttccaa ggaccaccag acactgagga agtattttaa catataaagc
6061 aaaagcaaca atagggcagc tggagaaagg aaattagaag taacagagcc aatgcagtga
6121 ttagaaaaac actcaaaaaa tggtaataaa tgtgttcaat gggtcaagag aacatatttc
6181 catctattta aataaaaaca ggaatcaata aaagtgaaca tacaaaaaag agctcttgtc
6241 acagaaatga aaaccttggg agcaggactg cacccacggt tcccaccaac ctatcctgcc
6301 atcatgtttt ctccctactc cagcttcctc ccaagctcac tctacgtaga tggtttttct
6361 tcccttagcc aacaaacgaa attctgccta taaattaagc caggacacta ggatatggag
6421 gtatattatt tatgtctctt ttccagtgtt tcctggtata taacagcaaa gatggtttag
6481 caagttaact ggtcaggcca gaattcttga tggttgccaa gtcaggaggc agacggtgaa
6541 ggaatgcatt ctggttatga aaaatggcaa tgacgagtaa gttgcagagt aaagatgcct
6601 tttagaggaa attaaggttt gcaataaatg catgctaatc ctctaatttt gatgaaagac
6661 taaagctctt gttttggttt gcatttcaaa gagcaagagc ataggctctt gtgctgggag
6721 gtggccagtt tcctggaaag gaatttatgg agtctgaaag aggaattagt acaaattata
6781 ttttcaaata agatacttga aagttattga tgacagggaa aagattgtct aaagagggct
6841 tgaaattggg gaaataattg aggctcagtg acaaaggaga agattacaac ttcaaaaatg
6901 aataaataaa taacattgca tgtttatttt acaa
//