LOCUS       NM_178559               4382 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens ATP binding cassette subfamily B member 5 (ABCB5),
            transcript variant 2, mRNA.
ACCESSION   NM_178559
VERSION     NM_178559.6
KEYWORDS    RefSeq.
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 4382)
  AUTHORS   Aadithi,M.G., Divya,B., Nandhini,G., Rajkumar,K., Ramesh Kumar,A.
            and Sarangarajan,R.
  TITLE     Evaluation of ABCB5 immunostained epithelial stem cells in oral
            squamous cell carcinoma, inflammatory gingival hyperplasia and
            normal mucosa
  JOURNAL   Biotech Histochem 99 (1), 44-48 (2024)
   PUBMED   38073314
  REMARK    GeneRIF: Evaluation of ABCB5 immunostained epithelial stem cells in
            oral squamous cell carcinoma, inflammatory gingival hyperplasia and
            normal mucosa.
REFERENCE   2  (bases 1 to 4382)
  AUTHORS   Gerard,L., Duvivier,L., Fourrez,M., Salazar,P., Sprimont,L.,
            Xia,D., Ambudkar,S.V., Gottesman,M.M. and Gillet,J.P.
  TITLE     Identification of two novel heterodimeric ABC transporters in
            melanoma: ABCB5beta/B6 and ABCB5beta/B9
  JOURNAL   J Biol Chem 300 (2), 105594 (2024)
   PUBMED   38145744
  REMARK    GeneRIF: Identification of two novel heterodimeric ABC transporters
            in melanoma: ABCB5beta/B6 and ABCB5beta/B9.
REFERENCE   3  (bases 1 to 4382)
  AUTHORS   Szatmari,P. and Ducza,E.
  TITLE     Changes in Expression and Function of Placental and Intestinal P-gp
            and BCRP Transporters during Pregnancy
  JOURNAL   Int J Mol Sci 24 (17), 13089 (2023)
   PUBMED   37685897
  REMARK    GeneRIF: Changes in Expression and Function of Placental and
            Intestinal P-gp and BCRP Transporters during Pregnancy.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4382)
  AUTHORS   Dieter,K., Niebergall-Roth,E., Daniele,C., Fluhr,S., Frank,N.Y.,
            Ganss,C., Kiritsi,D., McGrath,J.A., Tolar,J., Frank,M.H. and
            Kluth,M.A.
  TITLE     ABCB5+ mesenchymal stromal cells facilitate complete and durable
            wound closure in recessive dystrophic epidermolysis bullosa
  JOURNAL   Cytotherapy 25 (7), 782-788 (2023)
   PUBMED   36868990
  REMARK    GeneRIF: ABCB5[+] mesenchymal stromal cells facilitate complete and
            durable wound closure in recessive dystrophic epidermolysis
            bullosa.
            Erratum:[Cytotherapy. 2023 Sep;25(9):1016. doi:
            10.1016/j.jcyt.2023.06.001.. PMID: 37517864]
REFERENCE   5  (bases 1 to 4382)
  AUTHORS   Domdey,M., Kluth,M.A., Masslo,C., Ganss,C., Frank,M.H., Frank,N.Y.,
            Coroneo,M.T., Cursiefen,C. and Notara,M.
  TITLE     Consecutive dosing of UVB irradiation induces loss of ABCB5
            expression and activation of EMT and fibrosis proteins in limbal
            epithelial cells similar to pterygium epithelium
  JOURNAL   Stem Cell Res 64, 102936 (2022)
   PUBMED   36242878
  REMARK    GeneRIF: Consecutive dosing of UVB irradiation induces loss of
            ABCB5 expression and activation of EMT and fibrosis proteins in
            limbal epithelial cells similar to pterygium epithelium.
REFERENCE   6  (bases 1 to 4382)
  AUTHORS   Frank,N.Y., Margaryan,A., Huang,Y., Schatton,T., Waaga-Gasser,A.M.,
            Gasser,M., Sayegh,M.H., Sadee,W. and Frank,M.H.
  TITLE     ABCB5-mediated doxorubicin transport and chemoresistance in human
            malignant melanoma
  JOURNAL   Cancer Res 65 (10), 4320-4333 (2005)
   PUBMED   15899824
  REMARK    GeneRIF: ABCB5 mediates chemoresistance in stem cell
            phenotype-expressing human malignant melanoma cells.
REFERENCE   7  (bases 1 to 4382)
  AUTHORS   Chen,K.G., Szakacs,G., Annereau,J.P., Rouzaud,F., Liang,X.J.,
            Valencia,J.C., Nagineni,C.N., Hooks,J.J., Hearing,V.J. and
            Gottesman,M.M.
  TITLE     Principal expression of two mRNA isoforms (ABCB 5alpha and ABCB
            5beta) of the ATP-binding cassette transporter gene ABCB 5 in
            melanoma cells and melanocytes
  JOURNAL   Pigment Cell Res 18 (2), 102-112 (2005)
   PUBMED   15760339
  REMARK    GeneRIF: expression of ABCB 5alpha/beta might possibly provide two
            novel molecular markers for differential diagnosis of melanomas and
            constitute potential molecular targets for therapy of melanomas
REFERENCE   8  (bases 1 to 4382)
  AUTHORS   Huang,Y., Anderle,P., Bussey,K.J., Barbacioru,C., Shankavaram,U.,
            Dai,Z., Reinhold,W.C., Papp,A., Weinstein,J.N. and Sadee,W.
  TITLE     Membrane transporters and channels: role of the transportome in
            cancer chemosensitivity and chemoresistance
  JOURNAL   Cancer Res 64 (12), 4294-4301 (2004)
   PUBMED   15205344
REFERENCE   9  (bases 1 to 4382)
  AUTHORS   Frank,N.Y., Pendse,S.S., Lapchak,P.H., Margaryan,A., Shlain,D.,
            Doeing,C., Sayegh,M.H. and Frank,M.H.
  TITLE     Regulation of progenitor cell fusion by ABCB5 P-glycoprotein, a
            novel human ATP-binding cassette transporter
  JOURNAL   J Biol Chem 278 (47), 47156-47165 (2003)
   PUBMED   12960149
  REMARK    GeneRIF: ABCB5 P-glycoprotein functions include:  Regulation of
            progenitor cell fusion; Regulation of cell membrane potential;
            Rhodamine-123 transport.
REFERENCE   10 (bases 1 to 4382)
  AUTHORS   Allikmets,R., Gerrard,B., Hutchinson,A. and Dean,M.
  TITLE     Characterization of the human ABC superfamily: isolation and
            mapping of 21 new genes using the expressed sequence tags database
  JOURNAL   Hum Mol Genet 5 (10), 1649-1655 (1996)
   PUBMED   8894702
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC002486.1, BC110370.1, BC104894.1 and AY230001.1.
            
            On Jun 2, 2019 this sequence version replaced NM_178559.5.
            
            Summary: ABCB5 belongs to the ATP-binding cassette (ABC)
            transporter superfamily of integral membrane proteins. These
            proteins participate in ATP-dependent transmembrane transport of
            structurally diverse molecules ranging from small ions, sugars, and
            peptides to more complex organic molecules (Chen et al., 2005
            [PubMed 15760339]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and has
            multiple coding region differences, compared to variant 1. These
            differences cause translation initiation at a downstream AUG and
            result in an isoform (2) with a shorter N-terminus, compared to
            variant 1. This variant (2) is the mRNA isoform beta as described
            in PMID 15760339.
            
            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 :: AY090613.1, AY234788.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2163459 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                AC002486.1         61113-61125
            14-263              BC110370.1         1-250
            264-3047            BC104894.1         1-2784
            3048-4382           AY230001.1         3954-5288
FEATURES             Location/Qualifiers
     source          1..4382
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p21.1"
     gene            1..4382
                     /gene="ABCB5"
                     /gene_synonym="ABCB5alpha; ABCB5beta; EST422562"
                     /note="ATP binding cassette subfamily B member 5"
                     /db_xref="GeneID:340273"
                     /db_xref="HGNC:HGNC:46"
                     /db_xref="MIM:611785"
     exon            1..319
                     /gene="ABCB5"
                     /gene_synonym="ABCB5alpha; ABCB5beta; EST422562"
                     /inference="alignment:Splign:2.1.0"
     exon            320..430
                     /gene="ABCB5"
                     /gene_synonym="ABCB5alpha; ABCB5beta; EST422562"
                     /inference="alignment:Splign:2.1.0"
     exon            431..556
                     /gene="ABCB5"
                     /gene_synonym="ABCB5alpha; ABCB5beta; EST422562"
                     /inference="alignment:Splign:2.1.0"
     exon            557..760
                     /gene="ABCB5"
                     /gene_synonym="ABCB5alpha; ABCB5beta; EST422562"
                     /inference="alignment:Splign:2.1.0"
     CDS             560..2998
                     /gene="ABCB5"
                     /gene_synonym="ABCB5alpha; ABCB5beta; EST422562"
                     /EC_number="7.6.2.2"
                     /note="isoform 2 is encoded by transcript variant 2;
                     ATP-binding cassette sub-family B member 5; P-glycoprotein
                     ABCB5; ATP-binding cassette protein; ABCB5 P-gp;
                     ATP-binding cassette, sub-family B (MDR/TAP), member 5"
                     /codon_start=1
                     /product="ATP-binding cassette sub-family B member 5
                     isoform 2"
                     /protein_id="NP_848654.3"
                     /db_xref="CCDS:CCDS5371.1"
                     /db_xref="GeneID:340273"
                     /db_xref="HGNC:HGNC:46"
                     /db_xref="MIM:611785"
                     /translation="MVDENDIRALNVRHYRDHIGVVSQEPVLFGTTISNNIKYGRDDV
                     TDEEMERAAREANAYDFIMEFPNKFNTLVGEKGAQMSGGQKQRIAIARALVRNPKILI
                     LDEATSALDSESKSAVQAALEKASKGRTTIVVAHRLSTIRSADLIVTLKDGMLAEKGA
                     HAELMAKRGLYYSLVMSQDIKKADEQMESMTYSTERKTNSLPLHSVKSIKSDFIDKAE
                     ESTQSKEISLPEVSLLKILKLNKPEWPFVVLGTLASVLNGTVHPVFSIIFAKIITMFG
                     NNDKTTLKHDAEIYSMIFVILGVICFVSYFMQGLFYGRAGEILTMRLRHLAFKAMLYQ
                     DIAWFDEKENSTGGLTTILAIDIAQIQGATGSRIGVLTQNATNMGLSVIISFIYGWEM
                     TFLILSIAPVLAVTGMIETAAMTGFANKDKQELKHAGKIATEALENIRTIVSLTREKA
                     FEQMYEEMLQTQHRNTSKKAQIIGSCYAFSHAFIYFAYAAGFRFGAYLIQAGRMTPEG
                     MFIVFTAIAYGAMAIGETLVLAPEYSKAKSGAAHLFALLEKKPNIDSRSQEGKKPDTC
                     EGNLEFREVSFFYPCRPDVFILRGLSLSIERGKTVAFVGSSGCGKSTSVQLLQRLYDP
                     VQGQVLFDGVDAKELNVQWLRSQIAIVPQEPVLFNCSIAENIAYGDNSRVVPLDEIKE
                     AANAANIHSFIEGLPEKYNTQVGLKGAQLSGGQKQRLAIARALLQKPKILLLDEATSA
                     LDNDSEKVVQHALDKARTGRTCLVVTHRLSAIQNADLIVVLHNGKIKEQGTHQELLRN
                     RDIYFKLVNAQSVQ"
     exon            761..931
                     /gene="ABCB5"
                     /gene_synonym="ABCB5alpha; ABCB5beta; EST422562"
                     /inference="alignment:Splign:2.1.0"
     exon            932..1093
                     /gene="ABCB5"
                     /gene_synonym="ABCB5alpha; ABCB5beta; EST422562"
                     /inference="alignment:Splign:2.1.0"
     exon            1094..1234
                     /gene="ABCB5"
                     /gene_synonym="ABCB5alpha; ABCB5beta; EST422562"
                     /inference="alignment:Splign:2.1.0"
     exon            1235..1378
                     /gene="ABCB5"
                     /gene_synonym="ABCB5alpha; ABCB5beta; EST422562"
                     /inference="alignment:Splign:2.1.0"
     exon            1379..1483
                     /gene="ABCB5"
                     /gene_synonym="ABCB5alpha; ABCB5beta; EST422562"
                     /inference="alignment:Splign:2.1.0"
     exon            1484..1561
                     /gene="ABCB5"
                     /gene_synonym="ABCB5alpha; ABCB5beta; EST422562"
                     /inference="alignment:Splign:2.1.0"
     exon            1562..1645
                     /gene="ABCB5"
                     /gene_synonym="ABCB5alpha; ABCB5beta; EST422562"
                     /inference="alignment:Splign:2.1.0"
     exon            1646..1849
                     /gene="ABCB5"
                     /gene_synonym="ABCB5alpha; ABCB5beta; EST422562"
                     /inference="alignment:Splign:2.1.0"
     exon            1850..1950
                     /gene="ABCB5"
                     /gene_synonym="ABCB5alpha; ABCB5beta; EST422562"
                     /inference="alignment:Splign:2.1.0"
     exon            1951..2091
                     /gene="ABCB5"
                     /gene_synonym="ABCB5alpha; ABCB5beta; EST422562"
                     /inference="alignment:Splign:2.1.0"
     exon            2092..2248
                     /gene="ABCB5"
                     /gene_synonym="ABCB5alpha; ABCB5beta; EST422562"
                     /inference="alignment:Splign:2.1.0"
     exon            2249..2446
                     /gene="ABCB5"
                     /gene_synonym="ABCB5alpha; ABCB5beta; EST422562"
                     /inference="alignment:Splign:2.1.0"
     exon            2447..2653
                     /gene="ABCB5"
                     /gene_synonym="ABCB5alpha; ABCB5beta; EST422562"
                     /inference="alignment:Splign:2.1.0"
     exon            2654..2800
                     /gene="ABCB5"
                     /gene_synonym="ABCB5alpha; ABCB5beta; EST422562"
                     /inference="alignment:Splign:2.1.0"
     exon            2801..4382
                     /gene="ABCB5"
                     /gene_synonym="ABCB5alpha; ABCB5beta; EST422562"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 aatctgtgtt tctattgctt ctcggccttt tggctaagat caagtgtaat ctgtgttctt
       61 ttttatttgg tcatatcttc cattctttct tacctaattc ctctaatatc tctctgtgag
      121 cctaaaccaa taattatata ttacattcta ttgtctttct tatataactg cagaaagata
      181 aatatcactt tgtttgttcc tgtaggtttt ctttagtgta atccatagca gttattgcat
      241 tggagcagca gtccctcact ttgaaacctt cgcaatagcc cgaggagctg cctttcatat
      301 tttccaggtt attgataaga aacccagtat agataacttt tccacagctg gatataaacc
      361 tgaatccata gaaggaactg tggaatttaa aaatgtttct ttcaattatc catcaagacc
      421 atctatcaag attctgaaag gtctgaatct cagaattaag tctggagaga cagtcgcctt
      481 ggtcggtctc aatggcagtg ggaagagtac ggtagtccag cttctgcaga ggttatatga
      541 tccggatgat ggctttatca tggtggatga gaatgacatc agagctttaa atgtgcggca
      601 ttatcgagac catattggag tggttagtca agagcctgtt ttgttcggga ccaccatcag
      661 taacaatatc aagtatggac gagatgatgt gactgatgaa gagatggaga gagcagcaag
      721 ggaagcaaat gcgtatgatt ttatcatgga gtttcctaat aaatttaata cattggtagg
      781 ggaaaaagga gctcaaatga gtggagggca gaaacagagg atcgcaattg ctcgtgcctt
      841 agttcgaaac cccaagattc tgattttaga tgaggctacg tctgccctgg attcagaaag
      901 caagtcagct gttcaagctg cactggagaa ggcgagcaaa ggtcggacta caatcgtggt
      961 agcacaccga ctttctacta ttcgaagtgc agatttgatt gtgaccctaa aggatggaat
     1021 gctggcggag aaaggagcac atgctgaact aatggcaaaa cgaggtctat attattcact
     1081 tgtgatgtca caggatatta aaaaagctga tgaacagatg gagtcaatga catattctac
     1141 tgaaagaaag accaactcac ttcctctgca ctctgtgaag agcatcaagt cagacttcat
     1201 tgacaaggct gaggaatcca cccaatctaa agagataagt cttcctgaag tctctctatt
     1261 aaaaatttta aagttaaaca agcctgaatg gccttttgtg gttctgggga cattggcttc
     1321 tgttctaaat ggaactgttc atccagtatt ttccatcatc tttgcaaaaa ttataaccat
     1381 gtttggaaat aatgataaaa ccacattaaa gcatgatgca gaaatttatt ccatgatatt
     1441 cgtcattttg ggtgttattt gctttgtcag ttatttcatg cagggattat tttacggcag
     1501 agcaggggaa attttaacga tgagattaag acacttggcc ttcaaagcca tgttatatca
     1561 ggatattgcc tggtttgatg aaaaggaaaa cagcacagga ggcttgacaa caatattagc
     1621 catagatata gcacaaattc aaggagcaac aggttccagg attggcgtct taacacaaaa
     1681 tgcaactaac atgggacttt cagttatcat ttcctttata tatggatggg agatgacatt
     1741 cctgattctg agtattgctc cagtacttgc cgtgacagga atgattgaaa ccgcagcaat
     1801 gactggattt gccaacaaag ataagcaaga acttaagcat gctggaaaga tagcaactga
     1861 agctttggag aatatacgta ctatagtgtc attaacaagg gaaaaagcct tcgagcaaat
     1921 gtatgaagag atgcttcaga ctcaacacag aaatacctcg aagaaagcac agattattgg
     1981 aagctgttat gcattcagcc atgcctttat atattttgcc tatgcggcag ggtttcgatt
     2041 tggagcctat ttaattcaag ctggacgaat gaccccagag ggcatgttca tagtttttac
     2101 tgcaattgca tatggagcta tggccatcgg agaaacgctc gttttggctc ctgaatattc
     2161 caaagccaaa tcgggggctg cgcatctgtt tgccttgttg gaaaagaaac caaatataga
     2221 cagccgcagt caagaaggga aaaagccaga cacatgtgaa gggaatttag agtttcgaga
     2281 agtctctttc ttctatccat gtcgcccaga tgttttcatc ctccgtggct tatccctcag
     2341 tattgagcga ggaaagacag tagcatttgt ggggagcagc ggctgtggga aaagcacttc
     2401 tgttcaactt ctgcagagac tttatgaccc cgtgcaagga caagtgctgt ttgatggtgt
     2461 ggatgcaaaa gaattgaatg tacagtggct ccgttcccaa atagcaatcg ttcctcaaga
     2521 gcctgtgctc ttcaactgca gcattgctga gaacatcgcc tatggtgaca acagccgtgt
     2581 ggtgccatta gatgagatca aagaagccgc aaatgcagca aatatccatt cttttattga
     2641 aggtctccct gagaaataca acacacaagt tggactgaaa ggagcacagc tttctggcgg
     2701 ccagaaacaa agactagcta ttgcaagggc tcttctccaa aaacccaaaa ttttattgtt
     2761 ggatgaggcc acttcagccc tcgataatga cagtgagaag gtggttcagc atgcccttga
     2821 taaagccagg acgggaagga catgcctagt ggtcactcac aggctctctg caattcagaa
     2881 cgcagatttg atagtggttc tgcacaatgg aaagataaag gaacaaggaa ctcatcaaga
     2941 gctcctgaga aatcgagaca tatattttaa gttagtgaat gcacagtcag tgcagtgatg
     3001 ctgttgaggt agcacatatt ttgatgttcg tgtaatgcaa agaaggagta cttaataatt
     3061 acttggcaag ctttgatctc ttttattgca tatatcaata cctagaatca tgctactcaa
     3121 gtacatacat gttctattca cacaccatct gaccttcaga tttttaaaag gaagcaaaaa
     3181 tttgcttatt tcatgtaagt gaaataatgc ttatatcctt cactttataa aactattcta
     3241 gcacatttgc ttgtaaagca gttttctaca aggtgaattt atttcccatc aacttctgct
     3301 ataaaatcgg aaatatgttt ccagggggaa tattatccaa ttaaccatgt tgaaggtttt
     3361 agcaaaggca gtgtaagata gagtggggcc tgtagcattg cagggagagt gtctttcact
     3421 tggaattttg ttttgcagca catattacag tagttttgct agtccctttt ctccagaccg
     3481 tagggatttc tctcaataag tattcactat ttctctaaat tttattctat ttttttgttg
     3541 agcagggaat agaaaggatt acgatgtaaa atttctggga ggattaggta gctatctcct
     3601 acttcaccag taagtgaagt gcctcacatg agccatccca aagattcatt attccaaacc
     3661 ttgggtttgg cagtataagt cacaggccta cctgtttatg aaaacttact tacttaaaat
     3721 aagagctact tttgggccgg gtgcggtggc tcacgcctgt aatcccagaa ctttgggagg
     3781 ccgaggaggg cggatcactt gaggtcagga gttcgagacc agcctggcca acatggtgaa
     3841 accccgtctc tactaaaaac acaaaaatta gccaatcttg gtggcgggca cctggaatcc
     3901 cagctacttg ggaggctgag gcaggagaat catttgaacc taggaggcag aggttgcagt
     3961 gagccgagat ctcaccactg cactccagcc tgcgcaacag agcgagactc catctcaaaa
     4021 aataataaat aagagctaat tttattgtgg gtgaaaattt ttaaacgtct ttctctataa
     4081 taaaataatt tccttaaatt ttatatatac tttatcatat ataatgtgtg aatgatttta
     4141 aagttctgtg taaataacaa tattggtaaa atgagttaca ttttcaactt acttaaatat
     4201 gtaatgtcac ctggtgattt tatctttatt cttcagtgta ttttcttcca tttacacatt
     4261 tagctagcct ccctaaagtg tactctacca ataattgaaa tcttgttaaa caaaattaaa
     4321 accatttata tattatgctg ctttctttaa aatgcaaaat aaaaataaga ttggggactt
     4381 ga
//
