2024-05-03 09:05:17, GGRNA.v2 : RefSeq release 222 (Jan, 2024)
LOCUS NM_001406548 5308 bp mRNA linear PRI 12-DEC-2023 DEFINITION Homo sapiens ATPase copper transporting beta (ATP7B), transcript variant 41, mRNA. ACCESSION NM_001406548 VERSION NM_001406548.1 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 5308) AUTHORS Ruturaj, Mishra M, Saha S, Maji S, Rodriguez-Boulan E, Schreiner R and Gupta A. TITLE Regulation of the apico-basolateral trafficking polarity of the homologous copper-ATPases ATP7A and ATP7B JOURNAL J Cell Sci 137 (5) (2024) PUBMED 38032054 REMARK GeneRIF: Regulation of the apico-basolateral trafficking polarity of the homologous copper-ATPases ATP7A and ATP7B. REFERENCE 2 (bases 1 to 5308) AUTHORS Gorukmez O, Ozgur T, Gorukmez O and Topak A. TITLE ATP7B Gene Variant Profile Identified by NGS in Wilson's Disease JOURNAL Fetal Pediatr Pathol 42 (6), 891-900 (2023) PUBMED 37737146 REMARK GeneRIF: ATP7B Gene Variant Profile Identified by NGS in Wilson's Disease. REFERENCE 3 (bases 1 to 5308) AUTHORS Chakraborty K, Das S, Pal A, Maji S, Rai B, Gupta A and Bhattacharjee A. TITLE Wilson disease-causing mutations in the carboxyl terminus of ATP7B regulates its localization and Golgi exit selectively in the unpolarized cells JOURNAL Metallomics 15 (9) (2023) PUBMED 37660282 REMARK GeneRIF: Wilson disease-causing mutations in the carboxyl terminus of ATP7B regulates its localization and Golgi exit selectively in the unpolarized cells. REFERENCE 4 (bases 1 to 5308) AUTHORS Xue Z, Chen H, Yu L and Jiang P. TITLE A Systematic Review and Meta-Analysis of the R778L Mutation in ATP7B With Wilson Disease in China JOURNAL Pediatr Neurol 145, 135-147 (2023) PUBMED 37354629 REMARK GeneRIF: A Systematic Review and Meta-Analysis of the R778L Mutation in ATP7B With Wilson Disease in China. REFERENCE 5 (bases 1 to 5308) AUTHORS Petrukhin K, Lutsenko S, Chernov I, Ross BM, Kaplan JH and Gilliam TC. TITLE Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions JOURNAL Hum Mol Genet 3 (9), 1647-1656 (1994) PUBMED 7833924 REFERENCE 6 (bases 1 to 5308) AUTHORS Petrukhin K, Fischer SG, Pirastu M, Tanzi RE, Chernov I, Devoto M, Brzustowicz LM, Cayanis E, Vitale E, Russo JJ et al. TITLE Mapping, cloning and genetic characterization of the region containing the Wilson disease gene JOURNAL Nat Genet 5 (4), 338-343 (1993) PUBMED 8298640 REFERENCE 7 (bases 1 to 5308) AUTHORS Bull PC, Thomas GR, Rommens JM, Forbes JR and Cox DW. TITLE The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene JOURNAL Nat Genet 5 (4), 327-337 (1993) PUBMED 8298639 REMARK Erratum:[Nat Genet 1994 Feb;6(2):214] REFERENCE 8 (bases 1 to 5308) AUTHORS Yamaguchi Y, Heiny ME and Gitlin JD. TITLE Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease JOURNAL Biochem Biophys Res Commun 197 (1), 271-277 (1993) PUBMED 8250934 REFERENCE 9 (bases 1 to 5308) AUTHORS Weiss,K.H. and Schilsky,M. TITLE Wilson Disease JOURNAL (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW and Amemiya A (Eds.); GENEREVIEWS(R); (1993) PUBMED 20301685 REFERENCE 10 (bases 1 to 5308) AUTHORS Klein,C., Lohmann,K., Marras,C. and Munchau,A. TITLE Hereditary Dystonia 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 20301334 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL139082.18, AL138821.12 and AL162377.10. Summary: This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein is a monomer, and functions as a copper-transporting ATPase which exports copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease which is characterized by copper accumulation. [provided by RefSeq, Dec 2019]. 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 :: BC117200.1 [ECO:0000332] RNAseq introns :: partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-164 AL139082.18 29750-29913 c 165-1398 AL138821.12 33967-35200 c 1399-1553 AL138821.12 10039-10193 c 1554-1688 AL138821.12 9694-9828 c 1689-1883 AL138821.12 6316-6510 c 1884-2066 AL138821.12 4141-4323 c 2067-2235 AL138821.12 2418-2586 c 2236-2379 AL138821.12 1113-1256 c 2380-2522 AL162377.10 168087-168229 c 2523-2726 AL162377.10 166512-166715 c 2727-2844 AL162377.10 166312-166429 c 2845-2947 AL162377.10 164629-164731 c 2948-5308 AL162377.10 161705-164065 c FEATURES Location/Qualifiers source 1..5308 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="13" /map="13q14.3" gene 1..5308 /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /note="ATPase copper transporting beta" /db_xref="GeneID:540" /db_xref="HGNC:HGNC:870" /db_xref="MIM:606882" exon 1..164 /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /inference="alignment:Splign:2.1.0" CDS 114..3221 /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /EC_number="7.2.2.8" /note="isoform dd is encoded by transcript variant 41; copper-transporting ATPase 2; copper pump 2; ATPase, Cu++ transporting, beta polypeptide; Wilson disease-associated protein; ATPase, Cu(2+)- transporting, beta polypeptide; copper-transporting protein ATP7B" /codon_start=1 /product="copper-transporting ATPase 2 isoform dd" /protein_id="NP_001393477.1" /db_xref="GeneID:540" /db_xref="HGNC:HGNC:870" /db_xref="MIM:606882" /translation="
MPEQERQITAREGASRKILSKLSLPTRAWEPAMKKSFAFDNVGYEGGLDGLGPSSQVATSTVRILGMTCQSCVKSIEDRISNLKGIISMKVSLEQGSATVKYVPSVVCLQQVCHQIGDMGFEASIAEGKAASWPSRSLPAQEAVVKLRVEGMTCQSCVSSIEGKVRKLQGVVRVKVSLSNQEAVITYQPYLIQPEDLRDHVNDMGFEAAIKSKVAPLSLGPIDIERLQSTNPKRPLSSANQNFNNSETLGHQGSHVVTLQLRIDGMHCKSCVLNIEENIGQLLGVQSIQVSLENKTAQVKYDPSCTSPVALQRAIEALPPGNFKVSLPDGAEGSGTDHRSSSSHSPGSPPRNQVQGTCSTTLIAIAGMTCASCVHSIEGMISQLEGVQQISVSLAEGTATVLYNPSVISPEELRAAIEDMGFEASVVSGEAMPVTKKPGSTVIAGSINAHGSVLIKATHVGNDTTLAQIVKLVEEAQMSKAPIQQLADRFSGYFVPFIIIMSTLTLVVWIVIGFIDFGVVQRYFPNPNKHISQTEVIIRFAFQTSITVLCIACPCSLGLATPTAVMVGTGVAAQNGILIKGGKPLEMAHKIKTVMFDKTGTITHGVPRVMRVLLLGDVATLPLRKVLAVVGTAEASSEHPLGVAVTKYCKEELGTETLGYCTDFQAVPGCGIGCKVSNVEGILAHSERPLSAPASHLNEAGSLPAEKDAVPQTFSVLIGNREWLRRNGLTISSDVSDAMTDHEMKGQTAILVAIDGVLCGMIAIADAVKQEAALAVHTLQSMGVDVVLITGDNRKTARAIATQVGINKVFAEVLPSHKVAKVQELQNKGKKVAMVGDGVNDSPALAQADMGVAIGTGTDVAIEAADVVLIRNDLLDVVASIHLSKRTVRRIRINLVLALIYNLVGIPIAAGVFMPIGIVLQPWMGSAAMAASSVSVVLSSLQLKCYKKPDLERYEAQAHGHMKPLTASQVSVHIGMDDRWRDSPRATPWDQVSYVSQVSLSSLTSDKPSRHSAAADDDGDKWSLLLNGRDEEQYI"
misc_feature 180..182 /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /note="Phosphoserine. /evidence=ECO:0007744|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (P35670.4); phosphorylation site" misc_feature 294..485 /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /note="Heavy-metal-associated domain (HMA) is a conserved domain of approximately 30 amino acid residues found in a number of proteins that transport or detoxify heavy metals, for example, the CPx-type heavy metal ATPases and copper chaperones. HMA domain...; Region: HMA; cd00371" /db_xref="CDD:238219" misc_feature order(312..320,327..329) /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /note="metal-binding site [ion binding]" /db_xref="CDD:238219" misc_feature 549..740 /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /note="Heavy-metal-associated domain (HMA) is a conserved domain of approximately 30 amino acid residues found in a number of proteins that transport or detoxify heavy metals, for example, the CPx-type heavy metal ATPases and copper chaperones. HMA domain...; Region: HMA; cd00371" /db_xref="CDD:238219" misc_feature order(567..575,582..584) /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /note="metal-binding site [ion binding]" /db_xref="CDD:238219" misc_feature 801..860 /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /note="propagated from UniProtKB/Swiss-Prot (P35670.4); Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" misc_feature 891..1067 /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /note="Heavy-metal-associated domain (HMA) is a conserved domain of approximately 30 amino acid residues found in a number of proteins that transport or detoxify heavy metals, for example, the CPx-type heavy metal ATPases and copper chaperones. HMA domain...; Region: HMA; cd00371" /db_xref="CDD:238219" misc_feature order(909..917,924..926) /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /note="metal-binding site [ion binding]" /db_xref="CDD:238219" misc_feature 1077..1178 /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /note="propagated from UniProtKB/Swiss-Prot (P35670.4); Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" misc_feature 1200..1388 /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /note="Heavy-metal-associated domain (HMA) is a conserved domain of approximately 30 amino acid residues found in a number of proteins that transport or detoxify heavy metals, for example, the CPx-type heavy metal ATPases and copper chaperones. HMA domain...; Region: HMA; cd00371" /db_xref="CDD:238219" misc_feature order(1215..1223,1230..1232) /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /note="metal-binding site [ion binding]" /db_xref="CDD:238219" misc_feature <1386..2885 /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /note="Haloacid Dehalogenase-like Hydrolases; Region: HAD_like; cl21460" /db_xref="CDD:451251" misc_feature order(1902..1916,2481..2486,2565..2567,2619..2624, 2631..2636) /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /note="active site" /db_xref="CDD:319763" exon 165..1398 /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /inference="alignment:Splign:2.1.0" exon 1399..1553 /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /inference="alignment:Splign:2.1.0" exon 1554..1688 /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /inference="alignment:Splign:2.1.0" exon 1689..1883 /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /inference="alignment:Splign:2.1.0" exon 1884..2066 /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /inference="alignment:Splign:2.1.0" exon 2067..2235 /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /inference="alignment:Splign:2.1.0" exon 2236..2379 /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /inference="alignment:Splign:2.1.0" exon 2380..2522 /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /inference="alignment:Splign:2.1.0" exon 2523..2726 /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /inference="alignment:Splign:2.1.0" exon 2727..2844 /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /inference="alignment:Splign:2.1.0" exon 2845..2947 /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /inference="alignment:Splign:2.1.0" exon 2948..5308 /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /inference="alignment:Splign:2.1.0" regulatory 5281..5286 /regulatory_class="polyA_signal_sequence" /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /note="hexamer: AATAAA" polyA_site 5308 /gene="ATP7B" /gene_synonym="PWD; WC1; WD; WND" /note="major polyA site" ORIGIN
ctcacactctgcgcctcctctcccgggactttaacaccccgctctcctccaccgaccaggtgaccttttgctctgagccagatcagagaagaattcggtgtccgtgcgggacgatgcctgagcaggagagacagatcacagccagagaaggggccagtcggaaaatcttatctaagctttctttgcctacccgtgcctgggaaccagcaatgaagaagagttttgcttttgacaatgttggctatgaaggtggtctggatggcctgggcccttcttctcaggtggccaccagcacagtcaggatcttgggcatgacttgccagtcatgtgtgaagtccattgaggacaggatttccaatttgaaaggcatcatcagcatgaaggtttccctggaacaaggcagtgccactgtgaaatatgtgccatcggttgtgtgcctgcaacaggtttgccatcaaattggggacatgggcttcgaggccagcattgcagaaggaaaggcagcctcctggccctcaaggtccttgcctgcccaggaggctgtggtcaagctccgggtggagggcatgacctgccagtcctgtgtcagctccattgaaggcaaggtccggaaactgcaaggagtagtgagagtcaaagtctcactcagcaaccaagaggccgtcatcacttatcagccttatctcattcagcccgaagacctcagggaccatgtaaatgacatgggatttgaagctgccatcaagagcaaagtggctcccttaagcctgggaccaattgatattgagcggttacaaagcactaacccaaagagacctttatcttctgctaaccagaattttaataattctgagaccttggggcaccaaggaagccatgtggtcaccctccaactgagaatagatggaatgcattgtaagtcttgcgtcttgaatattgaagaaaatattggccagctcctaggggttcaaagtattcaagtgtccttggagaacaaaactgcccaagtaaagtatgacccttcttgtaccagcccagtggctctgcagagggctatcgaggcacttccacctgggaattttaaagtttctcttcctgatggagccgaagggagtgggacagatcacaggtcttccagttctcattcccctggctccccaccgagaaaccaggtccagggcacatgcagtaccactctgattgccattgccggcatgacctgtgcatcctgtgtccattccattgaaggcatgatctcccaactggaaggggtgcagcaaatatcggtgtctttggccgaagggactgcaacagttctttataatccctctgtaattagcccagaagaactcagagctgctatagaagacatgggatttgaggcttcagtcgtttctggagaagccatgccagtcactaagaaacccggaagcactgtaattgcggggtctataaatgcacatggctctgtgctcattaaagctacccacgtgggcaatgacaccactttggctcagattgtgaaactggtggaagaggctcagatgtcaaaggcacccattcagcagctggctgaccggtttagtggatattttgtcccatttatcatcatcatgtcaactttgacgttggtggtatggattgtaatcggttttatcgattttggtgttgttcagagatactttcctaaccccaacaagcacatctcccagacagaggtgatcatccggtttgctttccagacgtccatcacggtgctgtgcattgcctgcccctgctccctggggctggccacgcccacggctgtcatggtgggcaccggggtggccgcgcagaacggcatcctcatcaagggaggcaagcccctggagatggcgcacaagataaagactgtgatgtttgacaagactggcaccattacccatggcgtccccagggtcatgcgggtgctcctgctgggggatgtggccacactgcccctcaggaaggttctggctgtggtggggactgcggaggccagcagtgaacaccccttgggcgtggcagtcaccaaatactgtaaagaggaacttggaacagagaccttgggatactgcacggacttccaggcagtgccaggctgtggaattgggtgcaaagtcagcaacgtggaaggcatcctggcccacagtgagcgccctttgagtgcaccggccagtcacctgaatgaggctggcagccttcccgcagaaaaagatgcagtcccccagaccttctctgtgctgattggaaaccgtgagtggctgaggcgcaacggtttaaccatttctagcgatgtcagtgacgctatgacagaccacgagatgaaaggacagacagccatcctggtggctattgacggtgtgctctgtgggatgatcgcaatcgcagacgctgtcaagcaggaggctgccctggctgtgcacacgctgcagagcatgggtgtggacgtggttctgatcacgggggacaaccggaagacagccagagctattgccacccaggttggcatcaacaaagtctttgcagaggtgctgccttcgcacaaggtggccaaggtccaggagctccagaataaagggaagaaagtcgccatggtgggggatggggtcaatgactccccggccttggcccaggcagacatgggtgtggccattggcaccggcacggatgtggccatcgaggcagccgacgtcgtccttatcagaaatgatttgctggatgtggtggctagcattcacctttccaagaggactgtccgaaggatacgcatcaacctggtcctggcactgatttataacctggttgggatacccattgcagcaggtgtcttcatgcccatcggcattgtgctgcagccctggatgggctcagcggccatggcagcctcctctgtgtctgtggtgctctcatccctgcagctcaagtgctataagaagcctgacctggagaggtatgaggcacaggcgcatggccacatgaagcccctgacggcatcccaggtcagtgtgcacataggcatggatgacaggtggcgggactcccccagggccacaccatgggaccaggtcagctatgtcagccaggtgtcgctgtcctccctgacgtccgacaagccatctcggcacagcgctgcagcagacgatgatggggacaagtggtctctgctcctgaatggcagggatgaggagcagtacatctgatgacttcaggcaggcgggccggggcagggacttgcctccactcaccacaagctgagcaggacagccagcagcaggatgggctgagctagcctccagctttggggacttccgctccctggatatgtccagtcatcctgccctgcagcacgcggccttgtctgggtgcagctgggcttggcctggagaggacggccctgcctgcctcttggcctcacgggaccgtcagcatgggctttgtcttggactctagtccttggctggactgtagaaggtgagaggcgagtcaccctcctcacagacctctgcttggagtatttaggatgactgctgtgaaatggagaacagtttcatcaggaccaaaaaacctcactgggcctttccagagaactgcagacctcactgtcagggtctttctgatgacgcctgtctgtgtgcatcatgtttctgagaccacagtttacctcaggtgtgcctgttgctttcttcctgcatagtctgttcctttcttcgtacatagtctgttccttttctctcctgtgtgcttgtcagtggggacccctcgcaaccctgcctgtcacctgggagggtgggaccaatgtccttgtggtctttgctgctgctctcaggcgcttctccaatgctctggagtgtgcatttcagcttgaacctgcttcctggctcacacatccccagccagggagcttgccacactcttcttcaagttgaggagagttcttttttgcttaaagcccccttctccatggagtgttggcttctcaatagagtgttgttgctgaccagctggagtgagggcctcagagcctgacctgagagtccgtactcggcttcctgtggggtgtaggttctcgcgattcaggacgtccttccatatccctgcccagcctgtggtgcttgaaacgtttgccccatgggaaacgtatgtgtgcaggagcctccctgcacggcccaaggggcttcgttttcagtcttctgactgtcacctcgtggggttcagtagagaattcatgtgactagcgcctggccttgtgtggcttggaggaaatggtactgcccaaataggaggaaaacacagcctccctgagcctgcattctgcacgctgcccaggggcttcagaaaaggagtggccacagcaccccgaagggagcatctgtttacctggcagtggctctcagagcagcagaacgggttcagttttagactctgaagttggttgtgattgacagaaccctttgggagcaaactagtagagttggattaaattctgggtgaaacccttttctcccacacaaaatagttttagtgatttttttcattgtccattacttgccaggggcagttttagcagcacttttgatagattacgtctaatcctcccaaccaaccagcagggtagctattactgtccacattttacaggcaaggaaacaggctccaagaggctgaggactttgcccaggatgacatagccaatggacaagcagtgtctgtcagctgtgaaggcttcactcttattgtccttctaccttgaatagaagttttcctgataagaataaacgaggaaaaggtccttgcctcctggaagaacaaatctaccaggtgatctattcattgtttcaactcagaatgcacttgattcaggaggtcatctgaccttcaccttggatggttagtttcactttttacatatagtttttgcagggttttattttataaaatccaagcgcgctgttgattgtgttttccttgttttcagcccccccactccagcccgcagcacatttccgctgtccgtcagtaattgtgtcctctctttatgcttgcttggggaatgttgttttctgactaggctgatcattatctaaagaatctaattctgttgatttttaaaacttttaggaccataaacgttgtgttcatatatggacatggaaatatttatataattttatagaaaataaccttttagatggtcaaagtgtaaggagtttttttgtcagataatcatttctacttcaaaaacatttcatgcaatattagaataaagttcctgtcattcctctaaaaa
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If you use GGRNA in your work, please cite:
Naito Y, Bono H. (2012)
GGRNA: an ultrafast, transcript-oriented search engine for genes and transcripts.
Nucleic Acids Res., 40, W592-W596.
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