LOCUS       NM_001321635            4402 bp    mRNA    linear   PRI 09-FEB-2024
DEFINITION  Homo sapiens NIPA like domain containing 2 (NIPAL2), transcript
            variant 1, mRNA.
ACCESSION   NM_001321635 XM_005251069
VERSION     NM_001321635.2
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 4402)
  AUTHORS   Del-Aguila,J.L., Beitelshees,A.L., Cooper-Dehoff,R.M.,
            Chapman,A.B., Gums,J.G., Bailey,K., Gong,Y., Turner,S.T.,
            Johnson,J.A. and Boerwinkle,E.
  TITLE     Genome-wide association analyses suggest NELL1 influences adverse
            metabolic response to HCTZ in African Americans
  JOURNAL   Pharmacogenomics J 14 (1), 35-40 (2014)
   PUBMED   23400010
REFERENCE   2  (bases 1 to 4402)
  AUTHORS   Lefevre,C., Bouadjar,B., Karaduman,A., Jobard,F., Saker,S.,
            Ozguc,M., Lathrop,M., Prud'homme,J.F. and Fischer,J.
  TITLE     Mutations in ichthyin a new gene on chromosome 5q33 in a new form
            of autosomal recessive congenital ichthyosis
  JOURNAL   Hum Mol Genet 13 (20), 2473-2482 (2004)
   PUBMED   15317751
REFERENCE   3  (bases 1 to 4402)
  AUTHORS   Jia,L., Young,M.F., Powell,J., Yang,L., Ho,N.C., Hotchkiss,R.,
            Robey,P.G. and Francomano,C.A.
  TITLE     Gene expression profile of human bone marrow stromal cells:
            high-throughput expressed sequence tag sequencing analysis
  JOURNAL   Genomics 79 (1), 7-17 (2002)
   PUBMED   11827452
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC144055.1, AK024017.1, AK025015.1, DA482369.1, BU677761.1 and
            AI753381.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001321635.1.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.62146.1,
                                           SRR1803611.211811.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000430223.7/ ENSP00000407087.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1373              BC144055.1         102-1474
            1374-2069           AK024017.1         1560-2255
            2070-2517           AK025015.1         25-472
            2518-2858           DA482369.1         245-585
            2859-3868           AK025015.1         815-1824
            3869-4400           BU677761.1         19-550              c
            4401-4402           AI753381.1         18-19               c
FEATURES             Location/Qualifiers
     source          1..4402
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.2"
     gene            1..4402
                     /gene="NIPAL2"
                     /gene_synonym="NPAL2; SLC57A4"
                     /note="NIPA like domain containing 2"
                     /db_xref="GeneID:79815"
                     /db_xref="HGNC:HGNC:25854"
     exon            1..233
                     /gene="NIPAL2"
                     /gene_synonym="NPAL2; SLC57A4"
                     /inference="alignment:Splign:2.1.0"
     CDS             99..1250
                     /gene="NIPAL2"
                     /gene_synonym="NPAL2; SLC57A4"
                     /note="isoform a is encoded by transcript variant 1;
                     NIPA-like protein 2"
                     /codon_start=1
                     /product="NIPA-like protein 2 isoform a"
                     /protein_id="NP_001308564.1"
                     /db_xref="CCDS:CCDS83310.1"
                     /db_xref="GeneID:79815"
                     /db_xref="HGNC:HGNC:25854"
                     /translation="MAAVAPAGPGDSASAALDELSLNFTYGAPGAGNGSLSGDWYRRN
                     QIHLFGVLLAILGNLVISISLNIQKYSHLQLAQQEHPRPYFKSVLWWGGVLLMAVGET
                     GNFAAYGFAPITLIAPLGCVSVTGSAIISVTFLKDNLRASDLLGTTLAFAGTYLLVNF
                     APNITQAISARTVQYYLVGWQFLIYVILEILIFCILLYFYKRKGMKHMVILLTLVAIL
                     ASLTVISVKAVSGMITFSVMDKMQLTYPIFYIMFIIMIASCVFQVKFLNQATKLYNTT
                     TVVPVNHIFFTISAIIAGIIFYQEFLGAPFLTVFIYLFGCFLSFLGVFLVTRNREKEH
                     LQQSYIDFGNIPGKQMLDKIQPDSHSLSYGTLPDGSDSTKSQSGEKKEV"
     exon            234..302
                     /gene="NIPAL2"
                     /gene_synonym="NPAL2; SLC57A4"
                     /inference="alignment:Splign:2.1.0"
     exon            303..474
                     /gene="NIPAL2"
                     /gene_synonym="NPAL2; SLC57A4"
                     /inference="alignment:Splign:2.1.0"
     exon            475..534
                     /gene="NIPAL2"
                     /gene_synonym="NPAL2; SLC57A4"
                     /inference="alignment:Splign:2.1.0"
     exon            535..656
                     /gene="NIPAL2"
                     /gene_synonym="NPAL2; SLC57A4"
                     /inference="alignment:Splign:2.1.0"
     exon            657..753
                     /gene="NIPAL2"
                     /gene_synonym="NPAL2; SLC57A4"
                     /inference="alignment:Splign:2.1.0"
     exon            754..889
                     /gene="NIPAL2"
                     /gene_synonym="NPAL2; SLC57A4"
                     /inference="alignment:Splign:2.1.0"
     exon            890..978
                     /gene="NIPAL2"
                     /gene_synonym="NPAL2; SLC57A4"
                     /inference="alignment:Splign:2.1.0"
     exon            979..1042
                     /gene="NIPAL2"
                     /gene_synonym="NPAL2; SLC57A4"
                     /inference="alignment:Splign:2.1.0"
     exon            1043..1137
                     /gene="NIPAL2"
                     /gene_synonym="NPAL2; SLC57A4"
                     /inference="alignment:Splign:2.1.0"
     exon            1138..4402
                     /gene="NIPAL2"
                     /gene_synonym="NPAL2; SLC57A4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4378..4383
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NIPAL2"
                     /gene_synonym="NPAL2; SLC57A4"
                     /note="hexamer: AATAAA"
     polyA_site      4402
                     /gene="NIPAL2"
                     /gene_synonym="NPAL2; SLC57A4"
                     /note="major polyA site"
ORIGIN      
        1 gagcaggaag tggctgcggc gcggcctcct cgcggtgcaa cagggcgggg aggcggccgc
       61 agcccgagcc ggagcccgag cgccgggagc gagacctcat ggcagcggtg gcgcccgcgg
      121 gccccgggga ctccgcctcg gccgccctgg acgagctgtc actgaatttc acgtacgggg
      181 caccaggcgc cggcaacggc tccctctcgg gcgactggta ccgcaggaac cagattcacc
      241 tttttggagt tttgctggct attttaggaa acttggtgat cagtatttct ctaaatattc
      301 agaaatattc tcaccttcag ctggcacaac aagagcaccc aaggccatac ttcaagagtg
      361 tgctgtggtg gggtggtgtc ctgctgatgg ccgtgggaga gacggggaac tttgcagcct
      421 atggatttgc tcccattact ctgatcgctc cgttaggctg tgtgtctgtt acaggtagtg
      481 ccattatttc tgttacattt ctgaaagaca atttgagagc ctcagactta ctcggtacga
      541 cactggcatt tgcaggaaca tatttactgg tgaactttgc tccaaatata actcaggcaa
      601 tctcagcaag aacagtacag tattaccttg tcggatggca gttcctgatc tatgtgattt
      661 tagaaatatt aattttctgc attctcctgt atttctataa aagaaaagga atgaagcata
      721 tggtgattct gctaaccctg gtggcaattc tagcctcatt gactgttatt tcagtaaagg
      781 ccgtctcagg catgatcact ttttctgtga tggataaaat gcaactaact taccccattt
      841 tctatatcat gtttatcatc atgatagcat cttgtgtttt ccaagtcaag ttcctgaatc
      901 aagccacgaa actctacaat acgacaacag tggtgccagt taatcatatt ttctttacaa
      961 tcagtgccat cattgcaggt atcatatttt atcaggaatt ccttggtgct ccttttctca
     1021 ctgtatttat atatcttttt gggtgttttc tgtcattcct tggtgtattt ttggtcacaa
     1081 gaaatcgaga aaaggaacat ctgcaacagt cttatattga ttttggaaat attcctggga
     1141 aacaaatgtt ggacaaaata caaccagatt cacatagctt atcctatgga actttgcctg
     1201 atggaagtga ctcaacaaag agccaaagtg gagagaagaa agaggtctaa atgctgagaa
     1261 ggatggctgt tggcctgtta ttcgatacca cctttttaaa aaattgcaca tgttcaattt
     1321 gtgtcagcag ctcttttata agctaacatg tgctagcatt catttcagtc ctttccccca
     1381 cctcagcgtc tatggacaat cggggacttc ctaagctctg acagtctaat atttccatgg
     1441 aatgtgattt ggagtgttcc ccacaccctg gacctctccc tagtgattat ctagccagct
     1501 acaccttact cagagcccgg ctgctctagc aggaatgttg cacagaaaca tacatttgcg
     1561 gtttggccac aggtcgcata ggtggcttct cccacgggta gtgtcagttg cttcacttta
     1621 aaaagtcact tcagccccac aacctcactc ccaaaagaaa ggtttgagag cgctcatttt
     1681 ttttctaaga caccttttat aagcctccct ataaaaatct cacctttcaa gtactaagtt
     1741 agaattgcaa gtcatctttt ctgaaaacta atgctatcaa agtcctcctt tgaaaattaa
     1801 gggtctcttt aaaattagaa tttataaatg gcattcagtg atagtgtaca ccaaaattaa
     1861 aagaccttga ctggtgggct ttttacgtgt aaggaagagg aagtttaaga agtaggactc
     1921 tgcttgtttc agtagcccat gtactaaaat aggaacaatg cagagattag cacagcccct
     1981 gcacaaggct gacacataaa ttcatgaagc gttagagaca aaaagtagga ctaatgtttg
     2041 tttatttttt aataaaaatc tagaatggtg atgttttctt cagctgtatg attctatcat
     2101 acttgaaact gaagaaaaat ttaatatcct atgtcttttt tatagatctt ataatttatc
     2161 aagtggattt atatgtctta ttctccatat aagtctaaaa aatcacattt aaattcttag
     2221 tgatagtttc actacacatc atttcttccc aaagtcatta cctcaagctt tgtaaattct
     2281 tctagataaa aggagagttg tgattagaga actgaatttc agccatttaa acctgtagac
     2341 atagaaaaca acccagtggt caaacctgag cttcaagagg aagcccaagt cctcctgttt
     2401 cctgaatggc ttttccactc caattcatca catatctgct aagacacatt tgcaggtaga
     2461 atccataata atatctgtta tttatgatct acctaatatt taaaggagaa gaaaagaagt
     2521 agccttcgtt gcagccaaca tccaacaata agtcccaccc ttaatgacat ttcaaagcct
     2581 tcagatcact tctgacatgt ctgtccaata tcattccaat caatagtctt gcatttaaat
     2641 aggttgttta actcggtggt attgagactg taaccttaat ggctcaggtc ttttagcttt
     2701 gttctttgtc ataatctgca ctcctggcca gactgaccaa acctggctgc aaaggaaaga
     2761 gatttgaatt gatcaccaat gtatgaaaaa tacagaaccc atgtctggct cctaaactcc
     2821 tggtaataat tcccgccatc gtagcaagtg tcccatgcat tcagataaag cagtcataat
     2881 ttatggtgta ttttaccgaa ttggtccagc atattggtcc tacaaggctc agccaagaaa
     2941 tgtatctggt gccttaaact acagatttct ggtgactctt aaaactggtt tacaaagatt
     3001 gagaaaacaa ttagattgaa gagttttgct tcaagtagac ctgcattcat agctagagtg
     3061 catgagattt tcagcactgt agaatttcac acaggcacaa gcataacacc agtactttag
     3121 cagccgccaa cagttgcatc tattaaacgt tttgagaaat gacattgact tatgcacatt
     3181 taagcaatca acaatgtttt agaagtccag gtaacatata aaatatattc agacctagtt
     3241 ttactttcca tattgttgct ccaaagtaag gtaaatagga gttttagttg tactggcctg
     3301 taagattttt taaattacac agtgcatgac aacaactaaa gccaactcag tccttctctt
     3361 ggcattgtga gttgaggacc tttagccaac tgttagctca tctgactatc tgtctagacc
     3421 aagggtcggc aaagttttca gtaaagaccc acagagtaca tattttggag tttgtgttgt
     3481 ctgtaccaac agacagacat ggtgtctgtc ccaactaccc aactctgcca ttgtagcact
     3541 aaagcagcca tagacaagat gtaaacagaa gagcatggct gtgttccagt aaaactttat
     3601 ttacaggcca ggcatggtgg ctcatgcctg taatcccagc actctgggag gctgaggctg
     3661 acagatcatc tgaggttagg agtttgggac cagcctggtc aacatagtga aaccccatct
     3721 ctactaaaag tacaaaaatt agccaggcat gacggtgggt gcctggagtc ccagctacct
     3781 gggaggctga ggcaggagaa tcacttgaac ccgggaggtg gaggttgcag tgagccgaga
     3841 tcatgccatt gcactccagc ctgggcgaca gagtaagact gtctcaaaaa caaacaaaca
     3901 aacaaacaaa caaaaacaag tggccagtct gtgagctata gttcccaaca cctggtctag
     3961 actcttctgc ccttgctctg cagcttcttt cctgttgatt gggcattcag ggaaggagtt
     4021 taaaaagtga cactcatggc tcatgacaaa tgagatactt tgggagtgtg gaaacatggc
     4081 ttgatatttg ccttcagata tttttgctta tataagttct aaatggaagt gataagttca
     4141 ttcttagggt ccaagttgaa aggcagtggt tcttttgtga acaccactaa ctacattcga
     4201 aaagcctctc caattccaca ttccaagtct ataacagctt tggaaatgag taacaatgac
     4261 ctctcatgta gtagattaaa gcagaggcct ttgccatatg attgtttttt ggcttaaatg
     4321 tttgcttgcc ctgtaactgt aatactttgg ttaccagaat cacttgaaaa caaatacaat
     4381 aaaaaaattt ctcaagcagt ga
//
