LOCUS       NM_015701               2446 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens endoplasmic reticulum lectin 1 (ERLEC1), transcript
            variant 1, mRNA.
ACCESSION   NM_015701
VERSION     NM_015701.5
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 2446)
  AUTHORS   Rao,C., Guan,B., Luo,D., Deng,Q., Peng,Q., Lin,Z., Huang,M., Qi,M.,
            Zhong,B. and Lu,X.
  TITLE     Identification of pathogenic variants of ERLEC1 in individuals with
            Class III malocclusion by exome sequencing
  JOURNAL   Hum Mutat 41 (8), 1435-1446 (2020)
   PUBMED   32442352
  REMARK    GeneRIF: Identification of pathogenic variants of ERLEC1 in
            individuals with Class III malocclusion by exome sequencing.
REFERENCE   2  (bases 1 to 2446)
  AUTHORS   van der Goot,A.T., Pearce,M.M.P., Leto,D.E., Shaler,T.A. and
            Kopito,R.R.
  TITLE     Redundant and Antagonistic Roles of XTP3B and OS9 in Decoding
            Glycan and Non-glycan Degrons in ER-Associated Degradation
  JOURNAL   Mol Cell 70 (3), 516-530 (2018)
   PUBMED   29706535
  REMARK    GeneRIF: The relative expression of OS9 and XTP3B and the
            distribution of glycan and non-glycan degrons within the same
            protein contribute to the fidelity.
REFERENCE   3  (bases 1 to 2446)
  AUTHORS   Zhong,Y., Shen,H., Wang,Y., Yang,Y., Yang,P. and Fang,S.
  TITLE     Identification of ERAD components essential for dislocation of the
            null Hong Kong variant of alpha-1-antitrypsin (NHK)
  JOURNAL   Biochem Biophys Res Commun 458 (2), 424-428 (2015)
   PUBMED   25660456
REFERENCE   4  (bases 1 to 2446)
  AUTHORS   Fujimori,T., Kamiya,Y., Nagata,K., Kato,K. and Hosokawa,N.
  TITLE     Endoplasmic reticulum lectin XTP3-B inhibits endoplasmic
            reticulum-associated degradation of a misfolded alpha1-antitrypsin
            variant
  JOURNAL   FEBS J 280 (6), 1563-1575 (2013)
   PUBMED   23356641
  REMARK    GeneRIF: Lectin activity of XTP3-B is required for its interaction
            with the misfolded glycoprotein alpha1-antitrypsin variant.
REFERENCE   5  (bases 1 to 2446)
  AUTHORS   Yanagisawa,K., Konishi,H., Arima,C., Tomida,S., Takeuchi,T.,
            Shimada,Y., Yatabe,Y., Mitsudomi,T., Osada,H. and Takahashi,T.
  TITLE     Novel metastasis-related gene CIM functions in the regulation of
            multiple cellular stress-response pathways
  JOURNAL   Cancer Res 70 (23), 9949-9958 (2010)
   PUBMED   21118962
  REMARK    GeneRIF: Findings shed light on how tolerance to multiple cellular
            stresses at a metastatic site can be evoked by an integrated
            mechanism involving CIM, ERLEC1, which can function to coordinate
            those responses in a manner that promotes metastatic cell survival.
REFERENCE   6  (bases 1 to 2446)
  AUTHORS   Yamaguchi,D., Hu,D., Matsumoto,N. and Yamamoto,K.
  TITLE     Human XTP3-B binds to alpha1-antitrypsin variant null(Hong Kong)
            via the C-terminal MRH domain in a glycan-dependent manner
  JOURNAL   Glycobiology 20 (3), 348-355 (2010)
   PUBMED   19917667
  REMARK    GeneRIF: XTP3-B specifically binds to AT(NHK), which is a
            well-known substrate of ERAD, via a C-terminal MRH domain in a
            glycan-dependent manner.
REFERENCE   7  (bases 1 to 2446)
  AUTHORS   Hosokawa,N., Wada,I., Nagasawa,K., Moriyama,T., Okawa,K. and
            Nagata,K.
  TITLE     Human XTP3-B forms an endoplasmic reticulum quality control
            scaffold with the HRD1-SEL1L ubiquitin ligase complex and BiP
  JOURNAL   J Biol Chem 283 (30), 20914-20924 (2008)
   PUBMED   18502753
  REMARK    GeneRIF: XTP3-B forms an endoplasmic reticulum quality control
            scaffold with the HRD1-SEL1L ubiquitin ligase complex and BiP
REFERENCE   8  (bases 1 to 2446)
  AUTHORS   Tamura,T., Cormier,J.H. and Hebert,D.N.
  TITLE     Sweet bays of ERAD
  JOURNAL   Trends Biochem Sci 33 (7), 298-300 (2008)
   PUBMED   18538572
REFERENCE   9  (bases 1 to 2446)
  AUTHORS   Christianson,J.C., Shaler,T.A., Tyler,R.E. and Kopito,R.R.
  TITLE     OS-9 and GRP94 deliver mutant alpha1-antitrypsin to the Hrd1-SEL1L
            ubiquitin ligase complex for ERAD
  JOURNAL   Nat Cell Biol 10 (3), 272-282 (2008)
   PUBMED   18264092
REFERENCE   10 (bases 1 to 2446)
  AUTHORS   Cruciat,C.M., Hassler,C. and Niehrs,C.
  TITLE     The MRH protein Erlectin is a member of the endoplasmic reticulum
            synexpression group and functions in N-glycan recognition
  JOURNAL   J Biol Chem 281 (18), 12986-12993 (2006)
   PUBMED   16531414
  REMARK    GeneRIF: Erlectin functions in N-glycan recognition in the
            endoplasmic reticulum and may regulate glycoprotein traffic
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB451941.1 and BC013129.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_015701.4.
            
            Summary: This gene encodes a resident endoplasmic reticulum (ER)
            protein that functions in N-glycan recognition. This protein is
            thought to be involved in ER-associated degradation via its
            interaction with the membrane-associated ubiquitin ligase complex.
            It also functions as a regulator of multiple cellular
            stress-response pathways in a manner that promotes metastatic cell
            survival. Alternative splicing results in multiple transcript
            variants. A related pseudogene has been identified on chromosome
            21. [provided by RefSeq, Aug 2011].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1, also known as
            hXTP3-B-long).
            
            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 :: SRR1803615.221856.1,
                                           SRR1660807.67818.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000185150.9/ ENSP00000185150.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-36                DB451941.1         114-149
            37-2446             BC013129.1         1-2410
FEATURES             Location/Qualifiers
     source          1..2446
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p16.2"
     gene            1..2446
                     /gene="ERLEC1"
                     /gene_synonym="C2orf30; CIM; CL24936; CL25084; HEL117;
                     XTP3-B; XTP3TPB"
                     /note="endoplasmic reticulum lectin 1"
                     /db_xref="GeneID:27248"
                     /db_xref="HGNC:HGNC:25222"
                     /db_xref="MIM:611229"
     exon            1..329
                     /gene="ERLEC1"
                     /gene_synonym="C2orf30; CIM; CL24936; CL25084; HEL117;
                     XTP3-B; XTP3TPB"
                     /inference="alignment:Splign:2.1.0"
     CDS             168..1619
                     /gene="ERLEC1"
                     /gene_synonym="C2orf30; CIM; CL24936; CL25084; HEL117;
                     XTP3-B; XTP3TPB"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; erlectin 1; XTP3-transactivated protein B; ER
                     lectin; XTP3-transactivated gene B protein; cancer
                     invasion and metastasis-related; epididymis luminal
                     protein 117"
                     /codon_start=1
                     /product="endoplasmic reticulum lectin 1 isoform 1
                     precursor"
                     /protein_id="NP_056516.2"
                     /db_xref="CCDS:CCDS1848.1"
                     /db_xref="GeneID:27248"
                     /db_xref="HGNC:HGNC:25222"
                     /db_xref="MIM:611229"
                     /translation="MEEGGGGVRSLVPGGPVLLVLCGLLEASGGGRALPQLSDDIPFR
                     VNWPGTEFSLPTTGVLYKEDNYVIMTTAHKEKYKCILPLVTSGDEEEEKDYKGPNPRE
                     LLEPLFKQSSCSYRIESYWTYEVCHGKHIRQYHEEKETGQKINIHEYYLGNMLAKNLL
                     FEKEREAEEKEKSNEIPTKNIEGQMTPYYPVGMGNGTPCSLKQNRPRSSTVMYICHPE
                     SKHEILSVAEVTTCEYEVVILTPLLCSHPKYRFRASPVNDIFCQSLPGSPFKPLTLRQ
                     LEQQEEILRVPFRRNKEEDLQSTKEERFPAIHKSIAIGSQPVLTVGTTHISKLTDDQL
                     IKEFLSGSYCFRGGVGWWKYEFCYGKHVHQYHEDKDSGKTSVVVGTWNQEEHIEWAKK
                     NTARAYHLQDDGTQTVRMVSHFYGNGDICDITDKPRQVTVKLKCKESDSPHAVTVYML
                     EPHSCQYILGVESPVICKILDTADENGLLSLPN"
     exon            330..434
                     /gene="ERLEC1"
                     /gene_synonym="C2orf30; CIM; CL24936; CL25084; HEL117;
                     XTP3-B; XTP3TPB"
                     /inference="alignment:Splign:2.1.0"
     exon            435..515
                     /gene="ERLEC1"
                     /gene_synonym="C2orf30; CIM; CL24936; CL25084; HEL117;
                     XTP3-B; XTP3TPB"
                     /inference="alignment:Splign:2.1.0"
     exon            516..593
                     /gene="ERLEC1"
                     /gene_synonym="C2orf30; CIM; CL24936; CL25084; HEL117;
                     XTP3-B; XTP3TPB"
                     /inference="alignment:Splign:2.1.0"
     exon            594..657
                     /gene="ERLEC1"
                     /gene_synonym="C2orf30; CIM; CL24936; CL25084; HEL117;
                     XTP3-B; XTP3TPB"
                     /inference="alignment:Splign:2.1.0"
     exon            658..692
                     /gene="ERLEC1"
                     /gene_synonym="C2orf30; CIM; CL24936; CL25084; HEL117;
                     XTP3-B; XTP3TPB"
                     /inference="alignment:Splign:2.1.0"
     exon            693..916
                     /gene="ERLEC1"
                     /gene_synonym="C2orf30; CIM; CL24936; CL25084; HEL117;
                     XTP3-B; XTP3TPB"
                     /inference="alignment:Splign:2.1.0"
     exon            917..1046
                     /gene="ERLEC1"
                     /gene_synonym="C2orf30; CIM; CL24936; CL25084; HEL117;
                     XTP3-B; XTP3TPB"
                     /inference="alignment:Splign:2.1.0"
     exon            1047..1208
                     /gene="ERLEC1"
                     /gene_synonym="C2orf30; CIM; CL24936; CL25084; HEL117;
                     XTP3-B; XTP3TPB"
                     /inference="alignment:Splign:2.1.0"
     exon            1209..1268
                     /gene="ERLEC1"
                     /gene_synonym="C2orf30; CIM; CL24936; CL25084; HEL117;
                     XTP3-B; XTP3TPB"
                     /inference="alignment:Splign:2.1.0"
     exon            1269..1393
                     /gene="ERLEC1"
                     /gene_synonym="C2orf30; CIM; CL24936; CL25084; HEL117;
                     XTP3-B; XTP3TPB"
                     /inference="alignment:Splign:2.1.0"
     exon            1394..1471
                     /gene="ERLEC1"
                     /gene_synonym="C2orf30; CIM; CL24936; CL25084; HEL117;
                     XTP3-B; XTP3TPB"
                     /inference="alignment:Splign:2.1.0"
     exon            1472..1547
                     /gene="ERLEC1"
                     /gene_synonym="C2orf30; CIM; CL24936; CL25084; HEL117;
                     XTP3-B; XTP3TPB"
                     /inference="alignment:Splign:2.1.0"
     exon            1548..2446
                     /gene="ERLEC1"
                     /gene_synonym="C2orf30; CIM; CL24936; CL25084; HEL117;
                     XTP3-B; XTP3TPB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1756..1761
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERLEC1"
                     /gene_synonym="C2orf30; CIM; CL24936; CL25084; HEL117;
                     XTP3-B; XTP3TPB"
                     /note="hexamer: AATACA"
     polyA_site      1802
                     /gene="ERLEC1"
                     /gene_synonym="C2orf30; CIM; CL24936; CL25084; HEL117;
                     XTP3-B; XTP3TPB"
                     /note="major polyA site"
     regulatory      1881..1886
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERLEC1"
                     /gene_synonym="C2orf30; CIM; CL24936; CL25084; HEL117;
                     XTP3-B; XTP3TPB"
                     /note="hexamer: AATAAA"
     polyA_site      1900
                     /gene="ERLEC1"
                     /gene_synonym="C2orf30; CIM; CL24936; CL25084; HEL117;
                     XTP3-B; XTP3TPB"
     regulatory      2428..2433
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ERLEC1"
                     /gene_synonym="C2orf30; CIM; CL24936; CL25084; HEL117;
                     XTP3-B; XTP3TPB"
                     /note="hexamer: AATAAA"
     polyA_site      2446
                     /gene="ERLEC1"
                     /gene_synonym="C2orf30; CIM; CL24936; CL25084; HEL117;
                     XTP3-B; XTP3TPB"
                     /note="major polyA site"
ORIGIN      
        1 ggaggcggcg ttgccgggct ctccggaagg agacgtggcg gcggttgggc cggtgatacc
       61 cgggcgcttt atagtcccgc cgcctcctcc tccacctcct cctcctcctc ctctcctcct
      121 ggagcagagg aggttgtggc ggtggctgga gaaagcggcg gcggaggatg gaggaaggag
      181 gcggcggcgt acggagtctg gtcccgggcg ggccggtgtt actggtcctc tgcggcctcc
      241 tggaggcgtc cggcggcggc cgagcccttc ctcaactcag cgatgacatc cctttccgag
      301 tcaactggcc cggcaccgag ttctctctgc ccacaactgg agttttatat aaagaagata
      361 attatgtcat catgacaact gcacataaag aaaaatataa atgcatactt ccccttgtga
      421 caagtgggga tgaggaagaa gaaaaggatt ataaaggccc taatccaaga gagcttttgg
      481 agccactatt taaacaaagc agttgttcct acagaattga gtcttattgg acttacgaag
      541 tatgtcatgg aaaacacatt cggcagtacc atgaagagaa agaaactggt cagaaaataa
      601 atattcacga gtactacctt gggaatatgt tggccaagaa ccttctattt gaaaaagaac
      661 gagaagcaga agaaaaggaa aaatcaaatg agattcccac taaaaatatc gaaggtcaga
      721 tgacaccata ctatcctgtg ggaatgggaa atggtacacc ttgtagtttg aaacagaacc
      781 ggcccagatc aagtactgtg atgtacatat gtcatcctga atctaagcat gaaattcttt
      841 cagtagctga agttacaact tgtgaatatg aagttgtcat tttgacacca ctcttgtgca
      901 gtcatcctaa atataggttc agagcatctc ctgtgaatga catattttgt caatcactgc
      961 caggatctcc atttaagccc ctcaccctga ggcagctgga gcagcaggaa gaaatactaa
     1021 gggtgccttt taggagaaat aaagaggaag atttgcaatc aactaaagaa gagagatttc
     1081 cagcgatcca caagtcgatt gctattggct ctcagccagt gctcactgtt gggacaaccc
     1141 acatatccaa attgacagat gaccaactca taaaagagtt tcttagtggt tcttactgct
     1201 ttcgtggggg tgtcggttgg tggaaatatg aattctgcta tggcaaacat gtacatcaat
     1261 accatgagga caaggatagt gggaaaacct ctgtggttgt cgggacatgg aaccaagaag
     1321 agcatattga atgggctaag aagaatactg ctagagctta tcatcttcaa gacgatggta
     1381 cccagacagt caggatggtg tcacattttt atggaaatgg agatatttgt gatataactg
     1441 acaaaccaag acaggtgact gtaaaactaa agtgcaaaga atcagattca cctcatgctg
     1501 ttactgtata tatgctagag cctcactcct gtcaatatat tcttggggtt gaatctccag
     1561 tgatctgtaa aatcttagat acagcagatg aaaatggact tctttctctc cccaactaaa
     1621 ggatattaaa gttaggggaa agaaaagatc attgaaagtc atgataattt ctgtcccact
     1681 gtgtctcatt atagagttct cagccattgg acctcttcta aaggatggta taaaatgact
     1741 ctcaaccact ttgtgaatac atatgtgtat ataagaggtt attgataaac ttctgaggca
     1801 gacatttgtc tcgctttttt tcatttttgt tgtgtcttat aaactgactg tttttctttg
     1861 cttggatact gtgattccaa aataaatctc atccaagcaa gttagagtcc agcctaatca
     1921 aatgtcataa ttgttgtacc tattgaaagt ttttaaataa tagatttatt atgtaaatta
     1981 tagtatatgt aagtagctaa tgaagtaaag atcatgaaga aagaaattga taggtgtaaa
     2041 tgagagacca tgtaaaatat gtaaattcta gtacctgaaa tcctttcaac agatttttat
     2101 atagcaactg ctctctgcaa gtagttaaac tagaaactgg gcacatggta gaggctcaca
     2161 tgggagttgt cctcaccctt gttaatctca agaaactctt atttataata ggttgcttct
     2221 ctctcagaac ttttatctat tacttttttc ttcttatgag tatgtttact ctcagagtat
     2281 ctatctgatg tagacagttg gtgatgcttc tgagactcag aatggtttac tctaacaaaa
     2341 cactgtgctg tctatccctt gtacttgcct actgtaatat ggatttcact tctgaacagt
     2401 ttacagcaca atatttattt taaagtgaat aaaatgtcca caagca
//
