LOCUS       NM_001324073            1302 bp    mRNA    linear   PRI 08-APR-2024
DEFINITION  Homo sapiens CD300H molecule (gene/pseudogene) (CD300H), transcript
            variant 1, mRNA.
ACCESSION   NM_001324073 XM_006722260 XM_006726744
VERSION     NM_001324073.3
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 1302)
  AUTHORS   Niizuma,K., Tahara-Hanaoka,S., Noguchi,E. and Shibuya,A.
  TITLE     Identification and Characterization of CD300H, a New Member of the
            Human CD300 Immunoreceptor Family
  JOURNAL   J Biol Chem 290 (36), 22298-22308 (2015)
   PUBMED   26221034
  REMARK    GeneRIF: Results suggest that CD300H may play an important role in
            innate immunity.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC079325.10 and ADDF02074771.1.
            
            On Apr 26, 2022 this sequence version replaced NM_001324073.2.
            
            Summary: This gene belongs to the CD300 gene family, which in turn,
            belongs to the immunoglobulin (Ig) superfamily. This gene is
            located within a CD300 cluster on chromosome 17. The encoded
            protein may be involved in innate immunity as well as autoimmune
            response. A G>A mutation, represented by the single nucleotide
            polymorphism (SNP) rs905709, at the splice donor site of the 5'
            terminal exon may be associated with lack of expression of this
            gene in homozygous (AA) individuals. The human reference assembly
            (GRCh38.p2) represents the 'A' allele at this SNP. [provided by
            RefSeq, Apr 2016].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1). Based on data in PMID: 26221034, a G>A mutation (rs905709) at
            the splice donor site of the 5' terminal exon may be associated
            with lack of expression of this gene in homozygous (AA)
            individuals. While the reference genome contains the 'A' allele at
            the SNP, this RefSeq is created to represent the functional allele
            (G).
            
            ##Evidence-Data-START##
            Transcript exon combination :: LC013475.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000709217.2/ ENSP00000517560.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-213               AC079325.10        28653-28865
            214-227             ADDF02074771.1     1250-1263           c
            228-584             AC079325.10        31887-32243
            585-648             AC079325.10        33265-33328
            649-1302            AC079325.10        35338-35991
FEATURES             Location/Qualifiers
     source          1..1302
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     gene            1..1302
                     /gene="CD300H"
                     /gene_synonym="CD300Hs"
                     /note="CD300H molecule (gene/pseudogene)"
                     /db_xref="GeneID:100130520"
                     /db_xref="HGNC:HGNC:52292"
                     /db_xref="MIM:616560"
     exon            1..227
                     /gene="CD300H"
                     /gene_synonym="CD300Hs"
                     /inference="alignment:Splign:2.1.0"
     CDS             167..772
                     /gene="CD300H"
                     /gene_synonym="CD300Hs"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; CD300c molecule-like; CD300 antigen-like family
                     member H; protein CD300H"
                     /codon_start=1
                     /product="protein CD300H isoform 1 precursor"
                     /protein_id="NP_001311002.1"
                     /db_xref="CCDS:CCDS86636.1"
                     /db_xref="GeneID:100130520"
                     /db_xref="HGNC:HGNC:52292"
                     /db_xref="MIM:616560"
                     /translation="MTQRAGAAMLPSALLLLCVPGCLTVSGPSTVMGAVGESLSVQCR
                     YEEKYKTFNKYWCRQPCLPIWHEMVETGGSEGVVRSDQVIITDHPGDLTFTVTLENLT
                     ADDAGKYRCGIATILQEDGLSGFLPDPFFQVQVLVSSASSTENSVKTPASPTRPSQCQ
                     GSLPSSTCFLLLPLLKVPLLLSILGAILWVNRPWRTPWTES"
     exon            228..584
                     /gene="CD300H"
                     /gene_synonym="CD300Hs"
                     /inference="alignment:Splign:2.1.0"
     exon            585..648
                     /gene="CD300H"
                     /gene_synonym="CD300Hs"
                     /inference="alignment:Splign:2.1.0"
     exon            649..1302
                     /gene="CD300H"
                     /gene_synonym="CD300Hs"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1282..1287
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CD300H"
                     /gene_synonym="CD300Hs"
                     /note="hexamer: AATAAA"
     polyA_site      1302
                     /gene="CD300H"
                     /gene_synonym="CD300Hs"
                     /note="major polyA site"
ORIGIN      
        1 aaaattgttt cacctgacca catagtgccc catggcccca gcttcctcca tactctcacc
       61 agctctgaga accaaaccca gaagaggcca gagaaggaaa cgagagatgt gagaaggaaa
      121 aagagcctca gaccctgctg ccacaaggga cttccatgct ggtgagatga cccagagggc
      181 tggggctgcc atgctgcctt cagctctgct ccttctctgt gtcccaggct gtctgactgt
      241 gagtggcccc agcaccgtga tgggcgccgt gggggaatcc ctgagtgttc agtgtcggta
      301 tgaagagaaa tacaagacgt ttaacaaata ctggtgcaga caaccatgct tgccaatttg
      361 gcatgaaatg gtggagaccg gagggtctga gggagtggtg aggagtgacc aagtgatcat
      421 cacggaccat cctggagacc tcaccttcac cgtgaccttg gagaacctca cggcagacga
      481 tgcaggaaaa taccgatgtg ggattgcaac aatactgcag gaagatggcc tgtctggttt
      541 cctgcccgat cccttcttcc aggttcaagt gctggtctca tcggcctcca gtactgagaa
      601 ctctgtgaag acacctgcat ctcccaccag gcccagccaa tgccaagggt ccctgcccag
      661 cagcacctgc ttcctgcttc tcccactcct gaaggtgcct ctgctcctga gcatactcgg
      721 tgctatcctc tgggtgaaca ggccttggag gactccttgg acagagtcat gaacaggaga
      781 acttgcaaca ccccatgccc attggaaccc tgtccagaga cacagcccct ctgactgcaa
      841 aaaggacttc tgaccctgac cctcatattt ctttccatct tatcaccgga tactttttaa
      901 aagttaaaaa aaaatgtagg ccgggtgcgg tggcttacac ctgcaatccc agcactttgg
      961 gaggccaagg caggtggatc acttgagtcc aggagtttga gagcagcctg ggcagcatgg
     1021 tcagacctca tctctacaaa aaaatacaaa aattagcagg gtgtggtggt gtatgcctgt
     1081 gatcccagct acttgggaag ctgagacagg aggatcgctt gagccccgga ggtggaggtt
     1141 gcattgagtc gagattgtgc cactgcactc cagcctgggt gacagaggga gaccctgtct
     1201 cagataaaca aataaataaa taaaatacat cccatacaca agagtatgta tatgaggtat
     1261 ctatacagtt caaggactaa aaataaacat gtgtacccac ca
//
