LOCUS       NM_032531               3820 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens kirre like nephrin family adhesion molecule 3
            (KIRREL3), transcript variant 1, mRNA.
ACCESSION   NM_032531
VERSION     NM_032531.4
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 3820)
  AUTHORS   Traenkner,D., Shennib,O., Johnson,A., Weinbrom,A., Taylor,M.R. and
            Williams,M.E.
  TITLE     Modular Splicing Is Linked to Evolution in the Synapse-Specificity
            Molecule Kirrel3
  JOURNAL   eNeuro 10 (12) (2023)
   PUBMED   37977826
  REMARK    GeneRIF: Modular Splicing Is Linked to Evolution in the
            Synapse-Specificity Molecule Kirrel3.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3820)
  AUTHORS   Yang,B., Zhang,X., Zhou,H., Zhang,X., Yang,W., Lu,J., Guo,Z.,
            Dong,Z., Wu,Q. and Tian,F.
  TITLE     Preliminary study on the role and mechanism of KIRREL3 in the
            development of esophageal squamous cell carcinoma
  JOURNAL   Pathol Res Pract 237, 154025 (2022)
   PUBMED   35863131
  REMARK    GeneRIF: Preliminary study on the role and mechanism of KIRREL3 in
            the development of esophageal squamous cell carcinoma.
REFERENCE   3  (bases 1 to 3820)
  AUTHORS   Kruse,T., Benz,C., Garvanska,D.H., Lindqvist,R., Mihalic,F.,
            Coscia,F., Inturi,R., Sayadi,A., Simonetti,L., Nilsson,E., Ali,M.,
            Kliche,J., Moliner Morro,A., Mund,A., Andersson,E., McInerney,G.,
            Mann,M., Jemth,P., Davey,N.E., Overby,A.K., Nilsson,J. and
            Ivarsson,Y.
  TITLE     Large scale discovery of coronavirus-host factor protein
            interaction motifs reveals SARS-CoV-2 specific mechanisms and
            vulnerabilities
  JOURNAL   Nat Commun 12 (1), 6761 (2021)
   PUBMED   34799561
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3820)
  AUTHORS   Liu,Y.F., Sowell,S.M., Luo,Y., Chaubey,A., Cameron,R.S., Kim,H.G.
            and Srivastava,A.K.
  TITLE     Autism and Intellectual Disability-Associated KIRREL3 Interacts
            with Neuronal Proteins MAP1B and MYO16 with Potential Roles in
            Neurodevelopment
  JOURNAL   PLoS One 10 (4), e0123106 (2015)
   PUBMED   25902260
  REMARK    GeneRIF: KIRREL3 interacting proteins MAP1B and MYO16 are potential
            candidates for intellectual disability and autism spectrum
            disorder.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3820)
  AUTHORS   Durcan,P.J., Conradie,J.D., Van deVyver,M. and Myburgh,K.H.
  TITLE     Identification of novel Kirrel3 gene splice variants in adult human
            skeletal muscle
  JOURNAL   BMC Physiol 14, 11 (2014)
   PUBMED   25488023
  REMARK    GeneRIF: Results presented demonstrate for the first time that
            there are at least 3 splice variants of Kirrel3 expressed in adult
            human skeletal muscle, two of which have never previously been
            identified in human muscle.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3820)
  AUTHORS   Anney,R.J., Lasky-Su,J., O'Dushlaine,C., Kenny,E., Neale,B.M.,
            Mulligan,A., Franke,B., Zhou,K., Chen,W., Christiansen,H.,
            Arias-Vasquez,A., Banaschewski,T., Buitelaar,J., Ebstein,R.,
            Miranda,A., Mulas,F., Oades,R.D., Roeyers,H., Rothenberger,A.,
            Sergeant,J., Sonuga-Barke,E., Steinhausen,H., Asherson,P.,
            Faraone,S.V. and Gill,M.
  TITLE     Conduct disorder and ADHD: evaluation of conduct problems as a
            categorical and quantitative trait in the international multicentre
            ADHD genetics study
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 147B (8), 1369-1378 (2008)
   PUBMED   18951430
REFERENCE   7  (bases 1 to 3820)
  AUTHORS   Bhalla,K., Luo,Y., Buchan,T., Beachem,M.A., Guzauskas,G.F.,
            Ladd,S., Bratcher,S.J., Schroer,R.J., Balsamo,J., DuPont,B.R.,
            Lilien,J. and Srivastava,A.K.
  TITLE     Alterations in CDH15 and KIRREL3 in patients with mild to severe
            intellectual disability
  JOURNAL   Am J Hum Genet 83 (6), 703-713 (2008)
   PUBMED   19012874
  REMARK    GeneRIF: Alterations in KIRREL3 in patients with mild to severe
            intellectual disability are reported.
REFERENCE   8  (bases 1 to 3820)
  AUTHORS   Melzer,D., Perry,J.R., Hernandez,D., Corsi,A.M., Stevens,K.,
            Rafferty,I., Lauretani,F., Murray,A., Gibbs,J.R., Paolisso,G.,
            Rafiq,S., Simon-Sanchez,J., Lango,H., Scholz,S., Weedon,M.N.,
            Arepalli,S., Rice,N., Washecka,N., Hurst,A., Britton,A., Henley,W.,
            van de Leemput,J., Li,R., Newman,A.B., Tranah,G., Harris,T.,
            Panicker,V., Dayan,C., Bennett,A., McCarthy,M.I., Ruokonen,A.,
            Jarvelin,M.R., Guralnik,J., Bandinelli,S., Frayling,T.M.,
            Singleton,A. and Ferrucci,L.
  TITLE     A genome-wide association study identifies protein quantitative
            trait loci (pQTLs)
  JOURNAL   PLoS Genet 4 (5), e1000072 (2008)
   PUBMED   18464913
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 3820)
  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   10 (bases 1 to 3820)
  AUTHORS   Sellin,L., Huber,T.B., Gerke,P., Quack,I., Pavenstadt,H. and
            Walz,G.
  TITLE     NEPH1 defines a novel family of podocin interacting proteins
  JOURNAL   FASEB J 17 (1), 115-117 (2003)
   PUBMED   12424224
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC065255.1, BC101801.1,
            AB058770.1, W75978.1, AY358760.1, BM671831.1 and AP000806.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_032531.3.
            
            Summary: The protein encoded by this gene is a member of the
            nephrin-like protein family. These proteins are expressed in fetal
            and adult brain, and also in podocytes of kidney glomeruli. The
            cytoplasmic domains of these proteins interact with the C-terminus
            of podocin, also expressed in the podocytes, cells involved in
            ensuring size- and charge-selective ultrafiltration. The protein
            encoded by this gene is a synaptic cell adhesion molecule with
            multiple extracellular immunoglobulin-like domains and a
            cytoplasmic PDZ domain-binding motif. Mutations in this gene are
            associated with several neurological and cognitive disorders.
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Jul
            2017].
            
            Transcript Variant: This variant (1) encodes the longer 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 :: SRR1803611.137176.1, AB058770.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000525144.7/ ENSP00000435466.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-394               BC065255.1         306-699
            395-2670            BC101801.1         220-2495
            2671-2984           AB058770.1         2660-2973
            2985-3014           W75978.1           32-61
            3015-3273           AY358760.1         1291-1549
            3274-3277           W75978.1           319-322
            3278-3677           BM671831.1         18-417              c
            3678-3820           AP000806.4         39024-39166         c
FEATURES             Location/Qualifiers
     source          1..3820
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     gene            1..3820
                     /gene="KIRREL3"
                     /gene_synonym="KIRRE; MRD4; NEPH2; PRO4502"
                     /note="kirre like nephrin family adhesion molecule 3"
                     /db_xref="GeneID:84623"
                     /db_xref="HGNC:HGNC:23204"
                     /db_xref="MIM:607761"
     exon            1..316
                     /gene="KIRREL3"
                     /gene_synonym="KIRRE; MRD4; NEPH2; PRO4502"
                     /inference="alignment:Splign:2.1.0"
     CDS             262..2598
                     /gene="KIRREL3"
                     /gene_synonym="KIRRE; MRD4; NEPH2; PRO4502"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; nephrin-like 2; kin of IRRE-like protein 3; kin
                     of irregular chiasm-like protein 3; nephrin-like protein
                     2; kin of IRRE like 3"
                     /codon_start=1
                     /product="kin of IRRE-like protein 3 isoform 1 precursor"
                     /protein_id="NP_115920.1"
                     /db_xref="CCDS:CCDS53723.1"
                     /db_xref="GeneID:84623"
                     /db_xref="HGNC:HGNC:23204"
                     /db_xref="MIM:607761"
                     /translation="MKPFQLDLLFVCFFLFSQELGLQKRGCCLVLGYMAKDKFRRMNE
                     GQVYSFSQQPQDQVVVSGQPVTLLCAIPEYDGFVLWIKDGLALGVGRDLSSYPQYLVV
                     GNHLSGEHHLKILRAELQDDAVYECQAIQAAIRSRPARLTVLVPPDDPVILGGPVISL
                     RAGDPLNLTCHADNAKPAASIIWLRKGEVINGATYSKTLLRDGKRESIVSTLFISPGD
                     VENGQSIVCRATNKAIPGGKETSVTIDIQHPPLVNLSVEPQPVLEDNVVTFHCSAKAN
                     PAVTQYRWAKRGQIIKEASGEVYRTTVDYTYFSEPVSCEVTNALGSTNLSRTVDVYFG
                     PRMTTEPQSLLVDLGSDAIFSCAWTGNPSLTIVWMKRGSGVVLSNEKTLTLKSVRQED
                     AGKYVCRAVVPRVGAGEREVTLTVNGPPIISSTQTQHALHGEKGQIKCFIRSTPPPDR
                     IAWSWKENVLESGTSGRYTVETISTEEGVISTLTISNIVRADFQTIYNCTAWNSFGSD
                     TEIIRLKEQGSEMKSGAGLEAESVPMAVIIGVAVGAGVAFLVLMATIVAFCCARSQRN
                     LKGVVSAKNDIRVEIVHKEPASGREGEEHSTIKQLMMDRGEFQQDSVLKQLEVLKEEE
                     KEFQNLKDPTNGYYSVNTFKEHHSTPTISLSSCQPDLRPAGKQRVPTGMSFTNIYSTL
                     SGQGRLYDYGQRFVLGMGSSSIELCEREFQRGSLSDSSSFLDTQCDSSVSSSGKQDGY
                     VQFDKASKASASSSHHSQSSSQNSDPSRPLQRRMQTHV"
     exon            317..394
                     /gene="KIRREL3"
                     /gene_synonym="KIRRE; MRD4; NEPH2; PRO4502"
                     /inference="alignment:Splign:2.1.0"
     exon            395..544
                     /gene="KIRREL3"
                     /gene_synonym="KIRRE; MRD4; NEPH2; PRO4502"
                     /inference="alignment:Splign:2.1.0"
     exon            545..694
                     /gene="KIRREL3"
                     /gene_synonym="KIRRE; MRD4; NEPH2; PRO4502"
                     /inference="alignment:Splign:2.1.0"
     exon            695..852
                     /gene="KIRREL3"
                     /gene_synonym="KIRRE; MRD4; NEPH2; PRO4502"
                     /inference="alignment:Splign:2.1.0"
     exon            853..1003
                     /gene="KIRREL3"
                     /gene_synonym="KIRRE; MRD4; NEPH2; PRO4502"
                     /inference="alignment:Splign:2.1.0"
     exon            1004..1109
                     /gene="KIRREL3"
                     /gene_synonym="KIRRE; MRD4; NEPH2; PRO4502"
                     /inference="alignment:Splign:2.1.0"
     exon            1110..1258
                     /gene="KIRREL3"
                     /gene_synonym="KIRRE; MRD4; NEPH2; PRO4502"
                     /inference="alignment:Splign:2.1.0"
     exon            1259..1386
                     /gene="KIRREL3"
                     /gene_synonym="KIRRE; MRD4; NEPH2; PRO4502"
                     /inference="alignment:Splign:2.1.0"
     exon            1387..1513
                     /gene="KIRREL3"
                     /gene_synonym="KIRRE; MRD4; NEPH2; PRO4502"
                     /inference="alignment:Splign:2.1.0"
     exon            1514..1614
                     /gene="KIRREL3"
                     /gene_synonym="KIRRE; MRD4; NEPH2; PRO4502"
                     /inference="alignment:Splign:2.1.0"
     exon            1615..1813
                     /gene="KIRREL3"
                     /gene_synonym="KIRRE; MRD4; NEPH2; PRO4502"
                     /inference="alignment:Splign:2.1.0"
     exon            1814..1849
                     /gene="KIRREL3"
                     /gene_synonym="KIRRE; MRD4; NEPH2; PRO4502"
                     /inference="alignment:Splign:2.1.0"
     exon            1850..1957
                     /gene="KIRREL3"
                     /gene_synonym="KIRRE; MRD4; NEPH2; PRO4502"
                     /inference="alignment:Splign:2.1.0"
     exon            1958..2067
                     /gene="KIRREL3"
                     /gene_synonym="KIRRE; MRD4; NEPH2; PRO4502"
                     /inference="alignment:Splign:2.1.0"
     exon            2068..2154
                     /gene="KIRREL3"
                     /gene_synonym="KIRRE; MRD4; NEPH2; PRO4502"
                     /inference="alignment:Splign:2.1.0"
     exon            2155..3820
                     /gene="KIRREL3"
                     /gene_synonym="KIRRE; MRD4; NEPH2; PRO4502"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3658..3663
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KIRREL3"
                     /gene_synonym="KIRRE; MRD4; NEPH2; PRO4502"
                     /note="hexamer: AATAAA"
     polyA_site      3683
                     /gene="KIRREL3"
                     /gene_synonym="KIRRE; MRD4; NEPH2; PRO4502"
                     /note="major polyA site"
     regulatory      3797..3802
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KIRREL3"
                     /gene_synonym="KIRRE; MRD4; NEPH2; PRO4502"
                     /note="hexamer: AATAAA"
     polyA_site      3820
                     /gene="KIRREL3"
                     /gene_synonym="KIRRE; MRD4; NEPH2; PRO4502"
ORIGIN      
        1 agagaatgga tcttctccga gtggggacat tgctgacaat cccggcttcc cgaggcggct
       61 aagaacaggc agtttgtgtc ggctggctgc agatacccag aggcacaaag agaccgaagc
      121 cacccggagg gacccacgga cggacagatg gtaggcgcga acccgagagg accggcggag
      181 gctgagcacc gagagccgcc aaggaagaga aactaaccac agccaagtta ccccgccggc
      241 tttccttcgc tgcgctaagg aatgaaaccc ttccagctcg atctgctctt cgtctgcttc
      301 ttcctcttca gtcaagagct gggcctccag aagagaggat gctgtctggt gctgggctac
      361 atggccaagg acaagtttcg gagaatgaat gaaggccaag tctattcctt cagccagcag
      421 ccccaggacc aggtggtggt gtcgggacag ccagtgacgc tactttgcgc catccccgaa
      481 tacgatggct tcgttctgtg gatcaaggac ggcttggctc tgggtgtggg cagggacctc
      541 tcaagttacc cacagtacct ggtggtaggg aaccacctgt caggggagca ccacctgaag
      601 atcctgaggg cagagctgca agacgatgcg gtgtacgagt gccaggccat ccaggccgcc
      661 atccgctccc gccccgcacg cctcacagtc ctggtgccgc ctgatgaccc cgtcatcctg
      721 gggggccctg tgatcagcct gcgtgcgggg gaccctctca acctcacctg ccacgcagac
      781 aatgccaagc ctgcagcctc catcatctgg ttgcgaaagg gagaggtcat caatggggcc
      841 acctactcca agaccctgct tcgggacggc aagcgggaga gcatcgtcag caccctcttc
      901 atctcccctg gtgacgtgga gaatggccag agcatcgtgt gtcgtgccac caacaaagcc
      961 atccccggag gaaaggagac gtcggtcacc attgacatcc agcaccctcc actggtcaac
     1021 ctctcggtgg agccacagcc agtgctggag gacaacgtcg tcactttcca ctgctctgca
     1081 aaggccaacc cagctgtcac ccagtacagg tgggccaagc ggggccagat catcaaggag
     1141 gcatctggag aggtgtacag gaccacagtg gactacacgt acttctcaga gcccgtctcc
     1201 tgtgaggtga ccaacgccct gggcagcacc aacctcagcc gcacggttga cgtctacttt
     1261 gggccccgga tgaccacaga accccaatcc ttgctcgtgg atctgggctc tgatgccatc
     1321 ttcagctgcg cctggaccgg caacccatcc ctgaccatcg tctggatgaa gcggggctcc
     1381 ggagtggtcc tgagcaatga gaagaccctg accctcaaat ccgtgcgcca ggaggacgcg
     1441 ggcaagtacg tgtgccgggc tgtggtgccc cgtgtgggag ccggggagag agaggtgacc
     1501 ctgaccgtca atggaccccc catcatctcc agcacccaga cccagcacgc cctccacggc
     1561 gagaagggcc agatcaagtg cttcatccgg agcacgccgc cgccggaccg catcgcctgg
     1621 tcctggaagg agaacgttct ggagtcgggc acatcggggc gctatacggt ggagaccatc
     1681 agcaccgagg agggcgtcat ctccaccctg accatcagca acatcgtgcg ggccgacttc
     1741 cagaccatct acaactgcac ggcctggaac agcttcggct ccgacactga gatcatccgg
     1801 ctcaaggagc aaggttcgga aatgaagtcg ggagccgggc tggaagcaga gtctgtgccg
     1861 atggccgtca tcattggggt ggccgtagga gctggtgtgg ccttcctcgt ccttatggca
     1921 accatcgtgg cgttctgctg tgcccgttcc cagagaaatc tcaaaggtgt tgtgtcagcc
     1981 aaaaatgata tccgagtgga aattgtccac aaggaaccag cctctggtcg ggagggtgag
     2041 gagcactcca ccatcaagca gctgatgatg gaccggggtg aattccagca agactcagtc
     2101 ctgaaacagc tggaggtcct caaagaagag gagaaagagt ttcagaacct gaaggacccc
     2161 accaatggct actacagcgt caacaccttc aaagagcacc actcaacccc gaccatctcc
     2221 ctctccagct gccagcccga cctgcgtcct gcgggcaagc agcgtgtgcc cacaggcatg
     2281 tccttcacca acatctacag caccctgagc ggccagggcc gcctctacga ctacgggcag
     2341 cggtttgtgc tgggcatggg cagctcgtcc atcgagcttt gtgagcggga gttccagaga
     2401 ggctccctca gcgacagcag ctccttcctg gacacgcagt gtgacagcag cgtcagcagc
     2461 agcggcaagc aggatggcta tgtgcagttc gacaaggcca gcaaggcttc tgcttcctcc
     2521 tcccaccact cccagtcctc gtcccagaac tctgacccca gtcgacccct gcagcggcgg
     2581 atgcagactc acgtctaagg atcacacacc gcgggtgggg acgggccagg gaagaggtca
     2641 gggcacgttc tggttgtcca gggacgaggg gtactttgca gaggacacca gaattggcca
     2701 cttccaggac agcctcccag cgcctctgcc actgccttcc ttcgaagctc tgatcaagca
     2761 caaatctggg tccccaggtg ctgtgtgcca gaggtgggcg ggtggggaga cagacagagg
     2821 ctgcggctga gtgcgctgtg cttagtgctg gacacccgtg tccccggccc tttcctggag
     2881 gcccctctac cacctgctct gcccacaggc acaagtggca gctataactc tgctttcatg
     2941 aaactgcggt ccactctctg gtctctctgt gggctctacc cctcgctgac cagaagctct
     3001 acctacccct gtgcctgtgc tcccatacag ccctggggag aaggggatga cgtcttccca
     3061 gcactgagct gccccagaaa ccccggctcc ccactgctgc tcatagccca taccctggag
     3121 gctgacaagc cagaaatggc cttggctaaa ggagcctctc tctcaccagg ctggccggga
     3181 gcccaccccc aatttgtttg gtgttttgtg tccatactct tgcagttctg tccttggact
     3241 tgatgccgct gaactctgcg gtgggaccgg tccggtcaga gcctggtgta ctggggggag
     3301 ggagggagga gggagcctgt gctgacggag cacctcgccg ggtgtgcccc tcctgggctg
     3361 tgtgacccca gcctccccac ccacctcctg ctttgtgtac tcctcccctc cccctcagca
     3421 caatcggagt tcatataaga agtgcgggag cttctctggt cagggttctc tgaacactta
     3481 tggagagagt gcttcctggg aagtgtggcg tttgaagggg ctggagggca ggtctttaag
     3541 atggcgagac tgcccttctc agctgataaa cacaagaacg gcgatcctgt cttcagtaag
     3601 gctccacgag aagagaggaa gtatatctac acctcaaccc tcctagtcac cacctgaaat
     3661 aaatgttagg gacactactc caacatgttt gttctgttct tttgttccta caaagccaca
     3721 ggaagaaccc aagagctcat agaatgcgtt gggaacccaa ggttctctgc cctcctttga
     3781 ttcaatcttc ctagacaata aaggcagttg atagctctga
//
