LOCUS       NM_001199799            2855 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens immunoglobulin like domain containing receptor 1
            (ILDR1), transcript variant 1, mRNA.
ACCESSION   NM_001199799
VERSION     NM_001199799.2
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 2855)
  AUTHORS   Flores,S.V., Levi-Monsalve,A. and Alvarez-Lobo,J.P.
  TITLE     Imputation of SNPs associated with presbycusis through linkage
            disequilibrium analysis in the ILDR1 gene
  JOURNAL   J Genet 102 (2023)
   PUBMED   36814109
  REMARK    GeneRIF: Imputation of SNPs associated with presbycusis through
            linkage disequilibrium analysis in the ILDR1 gene.
REFERENCE   2  (bases 1 to 2855)
  AUTHORS   Wang,X., Wang,L., Peng,H., Yang,T. and Wu,H.
  TITLE     A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic
            Deafness DFNB42 in Two Chinese Han Families
  JOURNAL   Neural Plast 2018, 7272308 (2018)
   PUBMED   29849566
  REMARK    GeneRIF: The study shows that the novel p.G141R mutation in ILDR1
            is the likely genetic cause for the hearing impairment in two
            unrelated Chinese Han DFNB42 families.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2855)
  AUTHORS   Talebi,F., Mardasi,F.G., Asl,J.M. and Sayahi,M.
  TITLE     Next-generation sequencing identifies three novel missense variants
            in ILDR1 and MYO6 genes in an Iranian family with hearing loss with
            review of the literature
  JOURNAL   Int J Pediatr Otorhinolaryngol 103, 103-108 (2017)
   PUBMED   29224747
  REMARK    GeneRIF: this is the first ILDR1 and MYO6 mutations recognized in
            the southwest Iran. Our data expands the spectrum of mutations in
            ILDR1 and MYO6 genes.
            Review article
REFERENCE   4  (bases 1 to 2855)
  AUTHORS   Tlili,A., Fahd Al Mutery,A., Mahfood,M., Kamal Eddine Ahmad
            Mohamed,W. and Bajou,K.
  TITLE     Identification of a novel frameshift mutation in the ILDR1 gene in
            a UAE family, mutations review and phenotype genotype correlation
  JOURNAL   PLoS One 12 (9), e0185281 (2017)
   PUBMED   28945813
  REMARK    GeneRIF: The present study reports a first ILDR1 gene mutation in a
            consanguineous family with hearing loss in the UAE, and confirms
            that the whole-exome sequencing approach is a robust tool for the
            diagnosis of monogenic diseases with high levels of allelic and
            locus heterogeneity.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2855)
  AUTHORS   Hoffmann,T.J., Keats,B.J., Yoshikawa,N., Schaefer,C., Risch,N. and
            Lustig,L.R.
  TITLE     A Large Genome-Wide Association Study of Age-Related Hearing
            Impairment Using Electronic Health Records
  JOURNAL   PLoS Genet 12 (10), e1006371 (2016)
   PUBMED   27764096
  REMARK    GeneRIF: We discovered two genome-wide significant SNPs. The first
            was novel and near ISG20. The second was in TRIOBP, a gene
            previously associated with prelingual nonsyndromic hearing loss.
            Motivated by our TRIOBP results, we also looked at exons in known
            hearing loss genes, and identified two additional SNPs, rs2877561
            in ILDR1 and rs9493672 in EYA4 (at a significance threshold
            adjusted for number of SNPs in those regions).
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2855)
  AUTHORS   Zagaria,A., Anelli,L., Coccaro,N., Casieri,P., Minervini,A.,
            Buttiglione,V., Ricco,A., Specchia,G. and Albano,F.
  TITLE     A new recurrent chromosomal translocation t(3;11)(q13;q14) in
            myelodysplastic syndromes associated with overexpression of the
            ILDR1 gene
  JOURNAL   Leuk Res 36 (7), 852-856 (2012)
   PUBMED   22365942
  REMARK    GeneRIF: The analysis of gene expression was extended to Refractory
            Anemia (RA) and Refractory Anemia with excess blasts (RAEB) cases
            revealing ILDR1 overexpression in 36% of RAEB subgroup.
REFERENCE   7  (bases 1 to 2855)
  AUTHORS   Patsopoulos,N.A., Esposito,F., Reischl,J., Lehr,S., Bauer,D.,
            Heubach,J., Sandbrink,R., Pohl,C., Edan,G., Kappos,L., Miller,D.,
            Montalban,J., Polman,C.H., Freedman,M.S., Hartung,H.P.,
            Arnason,B.G., Comi,G., Cook,S., Filippi,M., Goodin,D.S.,
            Jeffery,D., O'Connor,P., Ebers,G.C., Langdon,D., Reder,A.T.,
            Traboulsee,A., Zipp,F., Schimrigk,S., Hillert,J., Bahlo,M.,
            Booth,D.R., Broadley,S., Brown,M.A., Browning,B.L., Browning,S.R.,
            Butzkueven,H., Carroll,W.M., Chapman,C., Foote,S.J., Griffiths,L.,
            Kermode,A.G., Kilpatrick,T.J., Lechner-Scott,J., Marriott,M.,
            Mason,D., Moscato,P., Heard,R.N., Pender,M.P., Perreau,V.M.,
            Perera,D., Rubio,J.P., Scott,R.J., Slee,M., Stankovich,J.,
            Stewart,G.J., Taylor,B.V., Tubridy,N., Willoughby,E., Wiley,J.,
            Matthews,P., Boneschi,F.M., Compston,A., Haines,J., Hauser,S.L.,
            McCauley,J., Ivinson,A., Oksenberg,J.R., Pericak-Vance,M.,
            Sawcer,S.J., De Jager,P.L., Hafler,D.A. and de Bakker,P.I.
  CONSRTM   Bayer Pharma MS Genetics Working Group; Steering Committees of
            Studies Evaluating IFNbeta-1b and a CCR1-Antagonist; ANZgene
            Consortium; GeneMSA; International Multiple Sclerosis Genetics
            Consortium
  TITLE     Genome-wide meta-analysis identifies novel multiple sclerosis
            susceptibility loci
  JOURNAL   Ann Neurol 70 (6), 897-912 (2011)
   PUBMED   22190364
  REMARK    Erratum:[Ann Neurol. 2013 Apr;73(4):561]
REFERENCE   8  (bases 1 to 2855)
  AUTHORS   Borck,G., Ur Rehman,A., Lee,K., Pogoda,H.M., Kakar,N., von
            Ameln,S., Grillet,N., Hildebrand,M.S., Ahmed,Z.M., Nurnberg,G.,
            Ansar,M., Basit,S., Javed,Q., Morell,R.J., Nasreen,N.,
            Shearer,A.E., Ahmad,A., Kahrizi,K., Shaikh,R.S., Ali,R.A.,
            Khan,S.N., Goebel,I., Meyer,N.C., Kimberling,W.J., Webster,J.A.,
            Stephan,D.A., Schiller,M.R., Bahlo,M., Najmabadi,H.,
            Gillespie,P.G., Nurnberg,P., Wollnik,B., Riazuddin,S., Smith,R.J.,
            Ahmad,W., Muller,U., Hammerschmidt,M., Friedman,T.B., Riazuddin,S.,
            Leal,S.M., Ahmad,J. and Kubisch,C.
  TITLE     Loss-of-function mutations of ILDR1 cause autosomal-recessive
            hearing impairment DFNB42
  JOURNAL   Am J Hum Genet 88 (2), 127-137 (2011)
   PUBMED   21255762
  REMARK    GeneRIF: Loss-of-function mutations of ILDR1 cause
            autosomal-recessive hearing impairment DFNB42.
REFERENCE   9  (bases 1 to 2855)
  AUTHORS   Aslam,M., Wajid,M., Chahrour,M.H., Ansar,M., Haque,S., Pham,T.L.,
            Santos,R.P., Yan,K., Ahmad,W. and Leal,S.M.
  TITLE     A novel autosomal recessive nonsyndromic hearing impairment locus
            (DFNB42) maps to chromosome 3q13.31-q22.3
  JOURNAL   Am J Med Genet A 133A (1), 18-22 (2005)
   PUBMED   15641023
REFERENCE   10 (bases 1 to 2855)
  AUTHORS   Hauge,H., Patzke,S., Delabie,J. and Aasheim,H.C.
  TITLE     Characterization of a novel immunoglobulin-like domain containing
            receptor
  JOURNAL   Biochem Biophys Res Commun 323 (3), 970-978 (2004)
   PUBMED   15381095
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK129974.1, AY672837.1 and
            BC044240.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001199799.1.
            
            Summary: This gene encodes a protein that contains an
            immunoglobulin-like domain. The encoded protein may function as a
            multimeric receptor at the cell surface. The expression of this
            gene may be a diagnostic marker for cancer progression.
            Alternatively spliced transcript variants encoding multiple protein
            isoforms have been observed for this gene. [provided by RefSeq, Dec
            2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            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 :: SRR1163658.153105.1, AY672837.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000344209.10/ ENSP00000345667.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-125               AK129974.1         34-158
            126-1848            AY672837.1         1-1723
            1849-2855           BC044240.1         1653-2659
FEATURES             Location/Qualifiers
     source          1..2855
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.33"
     gene            1..2855
                     /gene="ILDR1"
                     /gene_synonym="DFNB42; ILDR1alpha; ILDR1alpha'; ILDR1beta"
                     /note="immunoglobulin like domain containing receptor 1"
                     /db_xref="GeneID:286676"
                     /db_xref="HGNC:HGNC:28741"
                     /db_xref="MIM:609739"
     exon            1..228
                     /gene="ILDR1"
                     /gene_synonym="DFNB42; ILDR1alpha; ILDR1alpha'; ILDR1beta"
                     /inference="alignment:Splign:2.1.0"
     CDS             171..1811
                     /gene="ILDR1"
                     /gene_synonym="DFNB42; ILDR1alpha; ILDR1alpha'; ILDR1beta"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; immunoglobulin-like domain-containing receptor
                     1 alpha; immunoglobulin-like domain-containing receptor 1
                     beta; angulin-2"
                     /codon_start=1
                     /product="immunoglobulin-like domain-containing receptor 1
                     isoform 1 precursor"
                     /protein_id="NP_001186728.1"
                     /db_xref="CCDS:CCDS56271.1"
                     /db_xref="GeneID:286676"
                     /db_xref="HGNC:HGNC:28741"
                     /db_xref="MIM:609739"
                     /translation="MAWPKLPAPWLLLCTWLPAGCLSLLVTVQHTERYVTLFASIILK
                     CDYTTSAQLQDVVVTWRFKSFCKDPIFDYYSASYQAALSLGQDPSNDCNDNQREVRIV
                     AQRRGQNEPVLGVDYRQRKITIQNRADLVINEVMWWDHGVYYCTIEAPGDTSGDPDKE
                     VKLIVLHWLTVIFIILGALLLLLLIGVCWCQCCPQYCCCYIRCPCCPAHCCCPEEALA
                     RHRYMKQAQALGPQMMGKPLYWGADRSSQVSSYPMHPLLQRDLSLPSSLPQMPMTQTT
                     NQPPIANGVLEYLEKELRNLNLAQPLPPDLKGRFGHPCSMLSSLGSEVVERRIIHLPP
                     LIRDLSSSRRTSDSLHQQWLTPIPSRPWDLREGRSHHHYPDFHQELQDRGPKSWALER
                     RELDPSWSGRHRSSRLNGSPIHWSDRDSLSDVPSSSEARWRPSHPPFRSRCQERPRRP
                     SPRESTQRHGRRRRHRSYSPPLPSGLSSWSSEEDKERQPQSWRAHRRGSHSPHWPEEK
                     PPSYRSLDITPGKNSRKKGSVERRSEKDSSHSGRSVVI"
     exon            229..399
                     /gene="ILDR1"
                     /gene_synonym="DFNB42; ILDR1alpha; ILDR1alpha'; ILDR1beta"
                     /inference="alignment:Splign:2.1.0"
     exon            400..549
                     /gene="ILDR1"
                     /gene_synonym="DFNB42; ILDR1alpha; ILDR1alpha'; ILDR1beta"
                     /inference="alignment:Splign:2.1.0"
     exon            550..669
                     /gene="ILDR1"
                     /gene_synonym="DFNB42; ILDR1alpha; ILDR1alpha'; ILDR1beta"
                     /inference="alignment:Splign:2.1.0"
     exon            670..816
                     /gene="ILDR1"
                     /gene_synonym="DFNB42; ILDR1alpha; ILDR1alpha'; ILDR1beta"
                     /inference="alignment:Splign:2.1.0"
     exon            817..948
                     /gene="ILDR1"
                     /gene_synonym="DFNB42; ILDR1alpha; ILDR1alpha'; ILDR1beta"
                     /inference="alignment:Splign:2.1.0"
     exon            949..1769
                     /gene="ILDR1"
                     /gene_synonym="DFNB42; ILDR1alpha; ILDR1alpha'; ILDR1beta"
                     /inference="alignment:Splign:2.1.0"
     exon            1770..2855
                     /gene="ILDR1"
                     /gene_synonym="DFNB42; ILDR1alpha; ILDR1alpha'; ILDR1beta"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2836..2841
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ILDR1"
                     /gene_synonym="DFNB42; ILDR1alpha; ILDR1alpha'; ILDR1beta"
                     /note="hexamer: AATAAA"
     polyA_site      2855
                     /gene="ILDR1"
                     /gene_synonym="DFNB42; ILDR1alpha; ILDR1alpha'; ILDR1beta"
                     /note="major polyA site"
ORIGIN      
        1 gggcggcacc tgccccggga ccagagcgga cgctccctcc ccgctgcgcc gagggagggg
       61 aaacccgagg ggttccttgg agaaggtggt gcgtcctggg gcggcagctg aggaagaaag
      121 acgcagtgcc ccgaagcccc tgagctgaaa agggccagaa agggggcggc atggcatggc
      181 ccaaactgcc cgcaccttgg ctgctgctct gcacctggct cccagcaggg tgcctgtcct
      241 tgcttgtgac ggtccagcac acagaacgct atgtcaccct gtttgcctct atcatcctca
      301 aatgtgacta caccacctct gcccagctcc aggacgtggt ggtgacatgg cgcttcaagt
      361 ccttctgcaa ggaccctatc tttgactact actcagcgtc ataccaggca gctttatccc
      421 tgggccagga cccatccaat gactgcaacg acaaccagcg ggaagttcgc atagtggccc
      481 agcggcgggg gcagaatgag cccgtgctgg gggtagatta ccggcagcgc aagatcacca
      541 tccagaaccg agcagatctc gtgataaatg aagtgatgtg gtgggaccat ggagtgtatt
      601 actgcaccat tgaggctcca ggggacacat caggagaccc cgataaggaa gtaaagctca
      661 tcgtcctaca ctggctgaca gtgatcttca tcatcctggg agccctcctc ctcctgctgc
      721 tgattggagt gtgctggtgc cagtgctgtc ctcagtattg ctgctgctat atccgctgtc
      781 cctgctgtcc tgcccactgc tgctgtcctg aggaagccct ggcccgccac cgctacatga
      841 agcaggccca ggccctaggt cctcagatga tgggaaaacc cctgtactgg ggggcggaca
      901 ggagctccca ggtttcatct tatccaatgc acccgctgct gcagcgagat ttgtccctgc
      961 cgtccagcct cccgcagatg ccaatgaccc agaccaccaa tcagcctccc atcgccaatg
     1021 gtgtcctgga gtatttggag aaagaactgc ggaacctcaa cctggcccag cctctgcccc
     1081 ctgacctcaa aggcagattt ggccatccct gcagcatgct gtcctccctg ggctctgagg
     1141 tcgtggaacg cagaatcatc cacctgcccc cactgatcag agacctgtca tcctcaagga
     1201 ggaccagtga ctccctgcac cagcagtggc tcaccccaat tccctccagg ccctgggatc
     1261 tgagggaggg gagaagccac caccattacc ctgatttcca ccaggagctc caggaccggg
     1321 ggccaaagtc ttgggcattg gaaagaaggg agttggaccc atcgtggagt ggaaggcacc
     1381 gtagctctag gctgaatggg tcacccatac actggtcaga cagggacagc ctaagcgatg
     1441 tcccctcatc cagtgaggca cgctggcggc cgagccaccc tcctttcagg agccgctgtc
     1501 aggagaggcc ccgcaggccc agcccccggg agagcactca gaggcacggg agacgacgca
     1561 ggcaccgcag ctactctcct cccttgccct ccggcctcag ttcctggagc tctgaagagg
     1621 acaaggagag gcagccccag agctggcggg cccaccgccg cggctcgcac tccccacact
     1681 ggcccgagga gaagccgcct agctaccgct cacttgatat cactccaggc aagaatagca
     1741 ggaaaaaagg gagtgtggag aggcgctcgg agaaagacag ctctcatagt ggaaggagtg
     1801 tggtcattta gtcaccaagc acagcacaac ttctgtggct acttctcggc tcctgtgtgt
     1861 catcagcatc acctaggttt ccagctgact tgggaactgc aagtctgagt ctaacagttt
     1921 ttggcttaga ttctgagaat caaatagaag aattttaaat acaagagttt gagattgggt
     1981 atagtggctc acacctgtaa tcacagcact ttgggaggct aagaatcact tgagactagg
     2041 agttcaagat cagcctggga aacatagtga gaccccgtct ctacaaaaaa tataaaaatt
     2101 agttaggtgt ggtggcatgc acttgtagtc ccagctactc aagaggctga ggcagaagga
     2161 tcccttgagc ccaggagtgc aaggctgcaa tgagccagga tcccatgatc acacatctgt
     2221 attccagcct gggcaataga gcaagtcccc attactaaaa aacccaaaag gccaaaaaac
     2281 aaaaaagtta gagttcgagg aattaccaac tgtagtttta gccttggttc atgctctctt
     2341 gcatatttat ataatctctg acttgtaatg gaccctgact ggaatgtgat ccctcaggaa
     2401 cttagtagcc tgagtctttc agtagactac actgcccaga accctggcca ttctcaaaat
     2461 gagaacttgg gaatgtttaa gaagaaatca aacatgtttc aggaaaagga aatctatgga
     2521 gtattatagg gacattccca tgggaatgta tcttcctcca tggcatgtct tgagggtcct
     2581 ttcttgttag gagtttatcc tgccagccca taaatggact atttattgta agtgtagaaa
     2641 atcacagaga agcagttttg caccagcctt attcctgtgc cttgttttcc tcttgctctt
     2701 tttttacctg tatatctaat ttatattttc atatatattg tgtattgatt gaagtcactt
     2761 taaatccttc ttgggaatga cacagtatat aaataaggaa gaaagaaaac atgccaagct
     2821 gagcatgctg ctccaaataa atatctgctt tccta
//
