2025-04-17 20:19:26, GGRNA.v2 : RefSeq release 229 (Mar, 2025)
LOCUS NM_001410801 4765 bp mRNA linear PRI 02-APR-2024 DEFINITION Homo sapiens semaphorin 5B (SEMA5B), transcript variant 6, mRNA. ACCESSION NM_001410801 XM_047448350 VERSION NM_001410801.1 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 4765) AUTHORS Maki-Nevala,S., Sarhadi,V.K., Knuuttila,A., Scheinin,I., Ellonen,P., Lagstrom,S., Ronty,M., Kettunen,E., Husgafvel-Pursiainen,K., Wolff,H. and Knuutila,S. TITLE Driver Gene and Novel Mutations in Asbestos-Exposed Lung Adenocarcinoma and Malignant Mesothelioma Detected by Exome Sequencing JOURNAL Lung 194 (1), 125-135 (2016) PUBMED 26463840 REMARK GeneRIF: SEMA5B could possibly serve as a candidate gene for alterations associated with asbestos exposure. REFERENCE 2 (bases 1 to 4765) AUTHORS Wu,C., Hu,Z., He,Z., Jia,W., Wang,F., Zhou,Y., Liu,Z., Zhan,Q., Liu,Y., Yu,D., Zhai,K., Chang,J., Qiao,Y., Jin,G., Liu,Z., Shen,Y., Guo,C., Fu,J., Miao,X., Tan,W., Shen,H., Ke,Y., Zeng,Y., Wu,T. and Lin,D. TITLE Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations JOURNAL Nat Genet 43 (7), 679-684 (2011) PUBMED 21642993 REMARK Publication Status: Online-Only REFERENCE 3 (bases 1 to 4765) AUTHORS Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S. CONSRTM DREAM investigators TITLE Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study JOURNAL Diabetes Care 33 (10), 2250-2253 (2010) PUBMED 20628086 REMARK GeneRIF: Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) REFERENCE 4 (bases 1 to 4765) AUTHORS Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C., Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R., Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A., Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C., Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S., Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N., Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D. CONSRTM ASCOT investigators; NORDIL investigators; BRIGHT Consortium TITLE Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip JOURNAL Am J Hum Genet 85 (5), 628-642 (2009) PUBMED 19913121 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 5 (bases 1 to 4765) AUTHORS O'Connor,T.P., Cockburn,K., Wang,W., Tapia,L., Currie,E. and Bamji,S.X. TITLE Semaphorin 5B mediates synapse elimination in hippocampal neurons JOURNAL Neural Dev 4, 18 (2009) PUBMED 19463192 REMARK GeneRIF: Sema5B regulates the development and maintenance of synapse size and number in hippocampal neurons. Publication Status: Online-Only REFERENCE 6 (bases 1 to 4765) AUTHORS Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J., Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B., Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E., Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S., Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C., Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V., Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K., Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z., Goddard,A., Wood,W.I., Godowski,P. and Gray,A. TITLE The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment JOURNAL Genome Res 13 (10), 2265-2270 (2003) PUBMED 12975309 REMARK Erratum:[Genome Res. 2003 Dec;13(12):2759] REFERENCE 7 (bases 1 to 4765) AUTHORS Adams,R.H., Betz,H. and Puschel,A.W. TITLE A novel class of murine semaphorins with homology to thrombospondin is differentially expressed during early embryogenesis JOURNAL Mech Dev 57 (1), 33-45 (1996) PUBMED 8817451 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC083797.16 and AC078794.13. On Aug 16, 2022 this sequence version replaced XM_047448350.1. Summary: This gene encodes a member of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved and exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. ##Evidence-Data-START## Transcript exon combination :: SRR14038191.1392971.1, SRR14038194.3452536.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682 [ECO:0006172] ##Evidence-Data-END## COMPLETENESS: full length. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-300 AC083797.16 147427-147726 301-504 AC078794.13 3032-3235 505-604 AC078794.13 8206-8305 605-650 AC078794.13 12271-12316 651-713 AC078794.13 22683-22745 714-884 AC078794.13 23054-23224 885-1098 AC078794.13 23738-23951 1099-1384 AC078794.13 25064-25349 1385-1520 AC078794.13 27989-28124 1521-1728 AC078794.13 29294-29501 1729-1936 AC078794.13 29619-29826 1937-2054 AC078794.13 35851-35968 2055-2236 AC078794.13 36120-36301 2237-2380 AC078794.13 37740-37883 2381-2528 AC078794.13 38060-38207 2529-2754 AC078794.13 38317-38542 2755-2973 AC078794.13 38680-38898 2974-3144 AC078794.13 39399-39569 3145-3294 AC078794.13 39672-39821 3295-3339 AC078794.13 40206-40250 3340-3545 AC078794.13 40696-40901 3546-4765 AC078794.13 41440-42659 FEATURES Location/Qualifiers source 1..4765 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="3" /map="3q21.1" gene 1..4765 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /note="semaphorin 5B" /db_xref="GeneID:54437" /db_xref="HGNC:HGNC:10737" /db_xref="MIM:609298" exon 1..300 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /inference="alignment:Splign:2.1.0" exon 301..504 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /inference="alignment:Splign:2.1.0" CDS 351..3704 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /note="isoform 4 precursor is encoded by transcript variant 6; sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B" /codon_start=1 /product="semaphorin-5B isoform 4 precursor" /protein_id="NP_001397730.1" /db_xref="CCDS:CCDS93351.1" /db_xref="GeneID:54437" /db_xref="HGNC:HGNC:10737" /db_xref="MIM:609298" /translation="
MVLAGPLAVSLLLPSLTLLVSHLSSSQDVSSEPSSEQQLCALSKHPTVAFEDLQPWVSNFTYPGARDFSQLALDPSGNQLIVGARNYLFRLSLANVSLLQATEWASSEDTRRSCQSKGKTEWCEREISSIAPGELCCLLLSFLPQEECQNYVRVLIVAGRKVFMCGTNAFSPMCTSRQVGNLSRTIEKINGVARCPYDPRHNSTAVISSQGELYAATVIDFSGRDPAIYRSLGSGPPLRTAQYNSKWLNEPNFVAAYDIGLFAYFFLRENAVEHDCGRTVYSRVARVCKNDVGGRFLLEDTWTTFMKARLNCSRPGEVPFYYNELQSAFHLPEQDLIYGVFTTNVNSIAASAVCAFNLSAISQAFNGPFRYQENPRAAWLPIANPIPNFQCGTLPETGPNENLTERSLQDAQRLFLMSEAVQPVTPEPCVTQDSVRFSHLVVDLVQAKDTLYHVLYIGTESGTILKALSTASRSLHGCYLEELHVLPPGRREPLRSLRILHSARALFVGLRDGVLRVPLERCAAYRSQGACLGARDPYCGWDGKQQRCSTLEDSSNMSLWTQNITACPVRNVTRDGGFGPWSPWQPCEHLDGDNSGSCLCRARSCDSPRPRCGGLDCLGPAIHIANCSRNGAWTPWSSWALCSTSCGIGFQVRQRSCSNPAPRHGGRICVGKSREERFCNENTPCPVPIFWASWGSWSKCSSNCGGGMQSRRRACENGNSCLGCGVEFKTCNPEGCPEVRRNTPWTPWLPVNVTQGGARQEQRFRFTCRAPLADPHGLQFGRRRTETRTCPADGSGSCDTDALVEVLLRSGSTSPHTVSGGWAAWGPWSSCSRDCELGFRVRKRTCTNPEPRNGGLPCVGDAAEYQDCNPQACPVRGAWSCWTSWSPCSASCGGGHYQRTRSCTSPAPSPGEDICLGLHTEEALCATQACPEGWSPWSEWSKCTDDGAQSRSRHCEELLPGSSACAGNSSQSRPCPYSEIPVILPASSMEEATDCAGFNLIHLVATGISCFLGSGLLTLAVYLSCQHCQRQSQESTLVHPATPNHLHYKGGGTPKNEKYTPMEFKTLNKNNLIPDDRANFYPLQQTNVYTTTYYPSPLNKHSFRPEASPGQRCFPNS"
sig_peptide 351..428 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /inference="COORDINATES: ab initio prediction:SignalP:6.0" misc_feature 528..1910 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /note="The Sema domain, a protein interacting module, of semaphorins and plexins; Region: Sema; cl15693" /db_xref="CDD:472829" misc_feature 1911..2054 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /note="Plexin repeat; Region: PSI; pfam01437" /db_xref="CDD:396154" misc_feature 2247..2408 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /note="Thrombospondin type 1 repeats; Region: TSP1; smart00209" /db_xref="CDD:214559" misc_feature 2421..2561 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /note="Thrombospondin type 1 repeats; Region: TSP1; smart00209" /db_xref="CDD:214559" misc_feature 2814..2972 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /note="Thrombospondin type 1 repeats; Region: TSP1; smart00209" /db_xref="CDD:214559" misc_feature 2985..3143 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /note="Thrombospondin type 1 repeats; Region: TSP1; smart00209" /db_xref="CDD:214559" misc_feature 3153..3278 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /note="Thrombospondin type 1 domain; Region: TSP_1; pfam00090" /db_xref="CDD:459668" exon 505..604 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /inference="alignment:Splign:2.1.0" exon 605..650 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /inference="alignment:Splign:2.1.0" exon 651..713 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /inference="alignment:Splign:2.1.0" exon 714..884 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /inference="alignment:Splign:2.1.0" exon 885..1098 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /inference="alignment:Splign:2.1.0" exon 1099..1384 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /inference="alignment:Splign:2.1.0" exon 1385..1520 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /inference="alignment:Splign:2.1.0" exon 1521..1728 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /inference="alignment:Splign:2.1.0" exon 1729..1936 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /inference="alignment:Splign:2.1.0" exon 1937..2054 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /inference="alignment:Splign:2.1.0" exon 2055..2236 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /inference="alignment:Splign:2.1.0" exon 2237..2380 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /inference="alignment:Splign:2.1.0" exon 2381..2528 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /inference="alignment:Splign:2.1.0" exon 2529..2754 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /inference="alignment:Splign:2.1.0" exon 2755..2973 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /inference="alignment:Splign:2.1.0" exon 2974..3144 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /inference="alignment:Splign:2.1.0" exon 3145..3294 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /inference="alignment:Splign:2.1.0" exon 3295..3339 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /inference="alignment:Splign:2.1.0" exon 3340..3545 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /inference="alignment:Splign:2.1.0" exon 3546..4765 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /inference="alignment:Splign:2.1.0" regulatory 4632..4637 /regulatory_class="polyA_signal_sequence" /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /note="hexamer: ATTAAA" polyA_site 4651 /gene="SEMA5B" /gene_synonym="SEMAG; SemG" /note="major polyA site" ORIGIN
ctccctgctctctccgagcgccgggtcgggagctagttggagcgcgggggttggtgccagagcccagctccgccgagccgggcgggtcggcagcgcatccagcggctgctgggagcccgagcgcagcgggcgcgggcccgggtggggactgcaccggagcgctgagagctggaggccgttcctgcgcggccgccccattcccagaccggccgccagcccatctggttagctcccgccgctccgcgccgcccgggagtcgggagccgcggggaaccgggcacctgcacccgcctctgggaggtcttctcccctgtctgcctcccggagctaggactgcagaggggcctatcatggtgcttgcaggccccctggctgtctcgctgttgctgcccagcctcacactgctggtgtcccacctctccagctcccaggatgtctccagtgagcccagcagtgagcagcagctgtgcgcccttagcaagcaccccaccgtggcctttgaagacctgcagccgtgggtctctaacttcacctaccctggagcccgggatttctcccagctggctttggacccctccgggaaccagctcatcgtgggagccaggaactacctcttcagactcagccttgccaatgtctctcttcttcaggccacagagtgggcctccagtgaggacacgcgccgctcctgccaaagcaaagggaagactgagtggtgtgagcgtgagatatccagcatcgcacctggagagctgtgctgtctgctcctttccttcctgcctcaggaggagtgtcagaactacgtgcgagtcctgatcgtcgccggccggaaggtgttcatgtgtggaaccaatgccttttcccccatgtgcaccagcagacaggtggggaacctcagccggactattgagaagatcaatggtgtggcccgctgcccctatgacccacgccacaactccacagctgtcatctcctcccagggggagctctatgcagccacggtcatcgacttctcaggtcgggaccctgccatctaccgcagcctgggcagtgggccaccgcttcgcactgcccaatataactccaagtggcttaatgagccaaacttcgtggcagcctatgatattgggctgtttgcatacttcttcctgcgggagaacgcagtggagcacgactgtggacgcaccgtgtactctcgcgtggcccgcgtgtgcaagaatgacgtggggggccgattcctgctggaggacacatggaccacattcatgaaggcccggctcaactgctcccgcccgggcgaggtccccttctactataacgagctgcagagtgccttccacttgccggagcaggacctcatctatggagttttcacaaccaacgtaaacagcatcgcggcttctgctgtctgcgccttcaacctcagtgctatctcccaggctttcaatggcccatttcgctaccaggagaaccccagggctgcctggctccccatagccaaccccatccccaatttccagtgtggcaccctgcctgagaccggtcccaacgagaacctgacggagcgcagcctgcaggacgcgcagcgcctcttcctgatgagcgaggccgtgcagccggtgacacccgagccctgtgtcacccaggacagcgtgcgcttctcacacctcgtggtggacctggtgcaggctaaagacacgctctaccatgtactctacattggcaccgagtcgggcaccatcctgaaggcgctgtccacggcgagccgcagcctccacggctgctacctggaggagctgcacgtgctgccccccgggcgccgcgagcccctgcgcagcctgcgcatcctgcacagcgcccgcgcgctcttcgtggggctgagagacggcgtcctgcgggtcccactggagaggtgcgccgcctaccgcagccagggggcatgcctgggggcccgggacccgtactgtggctgggacgggaagcagcaacgttgcagcacactcgaggacagctccaacatgagcctctggacccagaacatcaccgcctgtcctgtgcggaatgtgacacgggatgggggcttcggcccatggtcaccatggcaaccatgtgagcacttggatggggacaactcaggctcttgcctgtgtcgagctcgatcctgtgattcccctcgaccccgctgtgggggccttgactgcctggggccagccatccacatcgccaactgctccaggaatggggcgtggaccccgtggtcatcgtgggcgctgtgcagcacgtcctgtggcatcggcttccaggtccgccagcgaagttgcagcaaccctgctccccgccacgggggccgcatctgcgtgggcaagagccgggaggaacggttctgtaatgagaacacgccttgcccggtgcccatcttctgggcttcctggggctcctggagcaagtgcagcagcaactgtggagggggcatgcagtcgcggcgtcgggcctgcgagaacggcaactcctgcctgggctgcggcgtggagttcaagacgtgcaaccccgagggctgccccgaagtgcggcgcaacaccccctggacgccgtggctgcccgtgaacgtgacgcagggcggggcacggcaggagcagcggttccgcttcacctgccgcgcgccccttgcagacccgcacggcctgcagttcggcaggagaaggaccgagacgaggacctgtcccgcggacggctccggctcctgcgacaccgacgccctggtggaggtcctcctgcgcagcgggagcacctccccgcacacggtgagcgggggctgggccgcctggggcccgtggtcgtcctgctcccgggactgcgagctgggcttccgcgtccgcaagagaacgtgcactaacccggagccccgcaacgggggcctgccctgcgtgggcgatgctgccgagtaccaggactgcaacccccaggcttgcccagttcggggtgcttggtcctgctggacctcatggtctccatgctcagcttcctgtggtgggggtcactatcaacgcacccgttcctgcaccagccccgcaccctccccaggtgaggacatctgtctcgggctgcacacggaggaggcactatgtgccacacaggcctgcccagaaggctggtcgccctggtctgagtggagtaagtgcactgacgacggagcccagagccgaagccggcactgtgaggagctcctcccagggtccagcgcctgtgctggaaacagcagccagagccgcccctgcccctacagcgagattcccgtcatcctgccagcctccagcatggaggaggccaccgactgtgcagggttcaatctcatccacttggtggccacgggcatctcctgcttcttgggctctgggctcctgaccctagcagtgtacctgtcttgccagcactgccagcgtcagtcccaggagtccacactggtccatcctgccacccccaaccatttgcactacaagggcggaggcaccccgaagaatgaaaagtacacacccatggaattcaagaccctgaacaagaataacttgatccctgatgacagagccaacttctacccattgcagcagaccaatgtgtacacgactacttactacccaagccccctgaacaaacacagcttccggcccgaggcctcacctggacaacggtgcttccccaacagctgataccgccgtcctggggacttgggcttcttgccttcataaggcacagagcagatggagatgggacagtggagccagtttggttttctccctctgcactaggccaagaacttgctgccttgcctgtggggggtcccatccggcttcagagagctctggctggcattgaccatgggggaaagggctggtttcaggctgacatatggccgcaggtccagttcagcccaggtctctcatggttatcttccaacccactgtcacgctgacactatgctgccatgcctgggctgtggacctactgggcatttgaggaattggagaatggagatggcaagagggcaggcttttaagtttgggttggagacaacttcctgtggcccccacaagctgagtctggccttctccagctggccccaaaaaaggcctttgctacatcctgattatctctgaaagtaatcaatcaagtggctccagtagctctggattttctgccagggctgggccattgtggtgctgccccagtatgacatgggaccaaggccagcgcaggttatccacctctgcctggaagtctatactctacccagggcatccctctggtcagaggcagtgagtactgggaactggaggctgacctgtgcttagaagtcctttaatctgggctggtacaggcctcagccttgccctcaatgcacgaaaggtggcccaggagagaggatcaatgccataggaggcagaagtctggcctctgtgcctctatggagactatcttccagttgctgctcaacagagttgttggctgagacctgcttgggagtctctgctggcccttcatctgttcaggaacacacacacacacacactcacacacgcacacacaatcacaatttgctacagcaacaaaaaagacattgggctgtggcattattaattaaagatgatatccagtctccaaatgtctctgtgcatctgtgcgtgggctcctcttgcatagtctaggcaatctgagcaatgcaccagggtggcagatggtctctcaaggcgggggaaatgccccaagtagc
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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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