LOCUS       NM_014656               4548 bp    mRNA    linear   PRI 07-MAY-2024
DEFINITION  Homo sapiens KIAA0040 (KIAA0040), transcript variant 2, mRNA.
ACCESSION   NM_014656 NR_015350 XM_001720799 XM_001726215 XM_001726436
VERSION     NM_014656.3
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 4548)
  AUTHORS   He,J., Xue,K., Fan,F., Li,L., Rao,X., Liu,W. and Nie,C.
  TITLE     KIAA0040 enhances glioma growth by controlling the JAK2/STAT3
            signalling pathway
  JOURNAL   J Cell Mol Med 28 (8), e18332 (2024)
   PUBMED   38661644
  REMARK    GeneRIF: KIAA0040 enhances glioma growth by controlling the
            JAK2/STAT3 signalling pathway.
REFERENCE   2  (bases 1 to 4548)
  AUTHORS   Hill,S.Y., Jones,B.L., Zezza,N. and Stiffler,S.
  TITLE     Family-based association analysis of alcohol dependence implicates
            KIAA0040 on Chromosome 1q in multiplex alcohol dependence families
  JOURNAL   Open J Genet 3 (4), 243-252 (2013)
   PUBMED   24829844
REFERENCE   3  (bases 1 to 4548)
  AUTHORS   Zuo,L., Gelernter,J., Zhang,C.K., Zhao,H., Lu,L., Kranzler,H.R.,
            Malison,R.T., Li,C.S., Wang,F., Zhang,X.Y., Deng,H.W.,
            Krystal,J.H., Zhang,F. and Luo,X.
  TITLE     Genome-wide association study of alcohol dependence implicates
            KIAA0040 on chromosome 1q
  JOURNAL   Neuropsychopharmacology 37 (2), 557-566 (2012)
   PUBMED   21956439
  REMARK    GeneRIF: conclude that KIAA0040 might harbor a causal variant for
            AD and thus might directly contribute to risk for this disorder.
            Erratum:[Neuropsychopharmacology. 2012 Jan;37(2):581-2]
REFERENCE   4  (bases 1 to 4548)
  AUTHORS   Wang,K.S., Liu,X., Zhang,Q., Pan,Y., Aragam,N. and Zeng,M.
  TITLE     A meta-analysis of two genome-wide association studies identifies 3
            new loci for alcohol dependence
  JOURNAL   J Psychiatr Res 45 (11), 1419-1425 (2011)
   PUBMED   21703634
  REMARK    GeneRIF: Several flanking SNPs of the top hits in the meta-analysis
            demonstrated borderline associations with alcohol dependence in the
            family sample for KIAA0040, NRD1 and THSD7B, respectively.
REFERENCE   5  (bases 1 to 4548)
  AUTHORS   Peng,W., Wang,H.Y., Miyahara,Y., Peng,G. and Wang,R.F.
  TITLE     Tumor-associated galectin-3 modulates the function of
            tumor-reactive T cells
  JOURNAL   Cancer Res 68 (17), 7228-7236 (2008)
   PUBMED   18757439
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL049799.1 and Z99715.1.
            
            On Nov 22, 2018 this sequence version replaced NM_014656.2.
            
            Transcript Variant: This variant (2) represents use of an alternate
            promoter and 5' UTR, compared to variant 1. All six variants encode
            the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL049799.1, SRR18074968.561713.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000423313.6/ ENSP00000462172.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4547              AL049799.1         18-4564
            4548-4548           Z99715.1           9836-9836
FEATURES             Location/Qualifiers
     source          1..4548
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q25.1"
     gene            1..4548
                     /gene="KIAA0040"
                     /note="KIAA0040"
                     /db_xref="GeneID:9674"
                     /db_xref="HGNC:HGNC:28950"
                     /db_xref="MIM:616696"
     exon            1..137
                     /gene="KIAA0040"
                     /inference="alignment:Splign:2.1.0"
     exon            138..211
                     /gene="KIAA0040"
                     /inference="alignment:Splign:2.1.0"
     exon            212..387
                     /gene="KIAA0040"
                     /inference="alignment:Splign:2.1.0"
     exon            388..4548
                     /gene="KIAA0040"
                     /inference="alignment:Splign:2.1.0"
     CDS             521..820
                     /gene="KIAA0040"
                     /codon_start=1
                     /product="uncharacterized protein KIAA0040"
                     /protein_id="NP_055471.2"
                     /db_xref="CCDS:CCDS86034.1"
                     /db_xref="GeneID:9674"
                     /db_xref="HGNC:HGNC:28950"
                     /db_xref="MIM:616696"
                     /translation="MERISAFFSSIWDTILTKHQEGIYNTICLGVLLGLPLLVIITLL
                     FICCHCCWSPPGKRGQQPEKNKKKKKKKKKKDEEDLWISAQPKLLQMEKRPSLPV"
     regulatory      3977..3982
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KIAA0040"
                     /note="hexamer: AATAAA"
     polyA_site      4000
                     /gene="KIAA0040"
                     /note="major polyA site"
     regulatory      4523..4528
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KIAA0040"
                     /note="hexamer: AATAAA"
     polyA_site      4548
                     /gene="KIAA0040"
ORIGIN      
        1 agacctggct cggggtggga gtgcagaggc aaccaaaaag gaacccacac ctccctccag
       61 ggcccggggc gctgtcagac ggggcagcaa ccaggagatt ccctgggcct gcaggaagcc
      121 cttccgcgga ccgaaagatt gttccccatt ttggagatga agaaactgag actcaaagca
      181 gctgagtgac cttcccaagg acacacactg aactgggcgg tgatcaggat ctgaatgcac
      241 agggcgggtg ttcagcgatt gtttactacg ttgaacgtga cctccaggaa agcagttctg
      301 gccgagatcc cctgacaacg caaagcaaga agtaacgtgg aaggaggctc cccaagctgg
      361 ctggccattt tgctgctgtg tgtggaggtg ctgccagtgg catgcccaaa cccaaagctg
      421 gaagaggaat aaattacaag tggtcaaggt tgcatccttt tgagcccagg acctgcttgt
      481 aagccgagag ggttctctgg ccctaatcta gccaagcacc atggagagaa tcagtgcctt
      541 cttcagctct atctgggaca ccatcttgac caaacaccaa gaaggcatct acaacaccat
      601 ctgcctggga gtcctcctgg gcctgccact cttggtgatc atcacactcc tcttcatctg
      661 ttgccattgc tgctggagcc caccaggcaa gaggggccag cagccagaga agaacaagaa
      721 gaagaagaag aagaagaaga agaaggatga agaagacctc tggatctctg ctcaacccaa
      781 gcttctccag atggagaaga gaccatcact gcctgtttag ttaggcagga agcagaggtg
      841 tttcctttct ggggctaagc ctccttctga ccacacacag acatttcagg aacccctgaa
      901 ataatgcact atgtccatgt ccacagagta actactcaac caaggaacaa acctcagact
      961 aagtgtccca gtggagggca gtcccaggga ccacgtggac aattcttgga tactgtcttg
     1021 gcagctatgt gtccaatagc aatgctcctt actgcagacc caggcatgcc tcccacctgt
     1081 ctctggcata ccccacatgc aaagcacaaa gaacatttat ccatacatct caatatggtt
     1141 cccaagtgtg tgcacatgca cgtaacacac acacacacaa attcaggtag caggtacgtg
     1201 ggcaagtata ttctgctcat caaatggtca ttggctatgt actttgtgca gggaagtaca
     1261 ttatctacag tcacaaaaat gtctcatggg aaagccttgc cagattcaga cacatatata
     1321 caatttccta accagcaagg cccccataca ccatctattc cataaaccac tcaggttaca
     1381 gatgcatgct ttcctatttc taactctaca cataaacttt tactggaagt actcataatt
     1441 ggacattcca gcaacctgct acagtcccca cccttgtgtg tcttgataca gacacaccaa
     1501 gtttctgtgc ctctgacccc tcacctgtgc caagatgttt aaagtgtgat ggttcaaaat
     1561 tcattgaaag ctcttttctt gtaactcatg acaaagtccg tcctcattgc cactgagagg
     1621 tgtttaatgt gatccaagac ctctctgtga aacattaccc ccgcaaacca ctcagcaaag
     1681 tgcctttctc caagcaagaa caaagagctc ttggtggtga ctgctagaaa attatggaag
     1741 cccactcatt tatgtcagtg gactgcaact gtgtacctgt gcaatgttta cagatggaaa
     1801 gggtgaggag atgctacacc tgagctaggt atctcctata taaccaaagt ttccagcagg
     1861 gaaggaacta gacaatcatc agtgcagtct cacagaaggc aacactggaa gtgatgtcat
     1921 aaggttgtga tgtgtgcacg gtatggcaca ggtgggatgc agaggtaaca gagtttaaat
     1981 gaaagtagga tgaagctata aagaggttta tttatattta tattgaagct caggcaagtg
     2041 ccttgcacac agtaggtact tataactaac tgtggttact gttggatatg tgatgttgtt
     2101 aagggtaagc ttgtaatacc tcaccagttc tccccgagtg atcttctctt ctaagtgagc
     2161 ccactaattg ctgcaatgga tgaaattggg tgtttaatgc tggagagcac atgtaggtga
     2221 cacatgtgcc ttgaggtatg tgaggacatg taaattagat ccacagtgag ctgaggaggg
     2281 ctttccccgc cagagtgagg ttgggaagca gagttaatcc acttatagga tgaactgctt
     2341 ggtattttta ttgtattgtg actgtattac aaagatggac aattcactcc ttgggagcaa
     2401 gttatgctct agaagtttat ttacaaatat gctgggcagc tctcttgaaa tattttccca
     2461 aggaagctat tctacacagt ggcaaaattg ctatctaatt aataatgtag ctaaactatg
     2521 atatttatag tagcaaaaaa ctaaattcta taagattgca ttaaaggaaa gatatattct
     2581 atttgctcac ttgggctgct tggtactcac ctgccctcca ggtgtacttt aggcctgtgg
     2641 agggtgggca tttagtggtg acccttgcac cagggttttc taacagatga ccctgtgaat
     2701 cataatttaa acctgcatat attttatagc cagtcacatt tgccctctca ccctatatgg
     2761 ccataaactg cctaagcact caggcctccc actcatcaac ccctttgacc agagaaagaa
     2821 gcactctggt tctctatccc cttgtcacat agagagtttg tcatggggcc tctggctgtg
     2881 cccttcacat aacagaatga cttgccatct gcctgcacca aacccaggga tgtggaagac
     2941 atctccccac aactgccact gctcaccagg acaagctgcc cttcctgtct ccacctctca
     3001 gtccccctag aatggatggc tggggagagg tggaggctga cagctgagac gtagtgtcag
     3061 atatgatcta ggagggcgga tcaccgggat ccgggaccat acaagtaaca tggtttccat
     3121 ggcaactgct tgctcctttg aattaagaca gcagtcagtt gtcattgcca tgacaaggcc
     3181 tctatctcca ggcacaatgt ccctgctgtc tcctaatcca atggacttgc tctcacccca
     3241 gggatgaaac acccagaaac tcacttctca gtcacttcca cagccgatga ctcagaagag
     3301 ccaaacccag aatggggcct ctcttttccc catcacagac tcccctgaca acctttcctg
     3361 gcgtaactag aggagtccca gtgcaggata ggccctaaac gttttgttaa ataaacaggt
     3421 gcatgaaagg agcctaaggc cattgttgat atccactctc ttctttccac ttccttctca
     3481 tctttttctc catgttttat gcttctctga ttccctcttc tgcctgcacc agaccagccc
     3541 cagcccttta ttcctctcca ttttcactcc ttccagcctc tgtccctgaa ctgccactgg
     3601 caacccatgg gacctcagga ccagagactg cttgactcat ctggggaggg taagttcacg
     3661 ggggacaaaa aaatgattcc taaagaagag gcttcctaga ccagcacagg ctcgagaaag
     3721 acatccccta ggcctggact tctgagcagc tttagccagg ctccggacgg cagccagagg
     3781 aggcctttcc ccattgctcc tttccccatt gctcaatgga ttccatgttt ctttttcttg
     3841 gggggagcag ggagggagaa aggtagaaaa atggcagcca cctttccaag aaaaatataa
     3901 agggtccaag ctgtatagta tttgtcagta tttttttctg taaaattcaa acacacacaa
     3961 aagaaaaatt tatttaaata aaatactttg aaaatgaaaa gtcttgatgt agtcagatgg
     4021 ttactctctt aacattaggt attaccccca ctcagacatc actcagaaat gatcaatgca
     4081 gggactcttt ctgtgacaca aatgtcccag ccctccctgg tcaccgcctt cgccatggta
     4141 gagtcatagg tctgaggatg aggaatgtgg ctgtctcacc cttgcttgca aaacagatgg
     4201 ccttggagac cagactccct caaaggtgcc agctacagga aaaatatact gatgttcctt
     4261 ggcaacactt acagaacttt ccatcaatga ggtccatcaa tggcttctta aaggaaaagg
     4321 ggggaaatag caaaaaccta aggaagaatg gacctttgag ttaaatccag tgtttgttgg
     4381 gaaaggaggg atcaaaaacc tctatagtag ccactagggc aaaaactgtg tgtatgtgtg
     4441 tgtgtaagtg tgtgtacact gttcaatatg gttcaatatg gtaccaatag ccacatgtga
     4501 ctatttaaat tcattgcaat gaaataaaat taaaggtata ctagctca
//
