LOCUS       NM_002108               3892 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens histidine ammonia-lyase (HAL), transcript variant 1,
            mRNA.
ACCESSION   NM_002108 XM_005268820
VERSION     NM_002108.4
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 3892)
  AUTHORS   Rivera-Paredez,B., Hidalgo-Bravo,A., Leon-Reyes,G.,
            Barajas-Olmos,F., Martinez-Hernandez,A., Orozco,L.,
            Denova-Gutierrez,E., Salmeron,J. and Velazquez-Cruz,R.
  TITLE     The role of single nucleotide variant rs3819817 of the Histidine
            Ammonia-Lyase gene and 25-Hydroxyvitamin D on bone mineral density,
            adiposity markers, and skin pigmentation, in Mexican population
  JOURNAL   J Endocrinol Invest 46 (9), 1911-1921 (2023)
   PUBMED   36862244
  REMARK    GeneRIF: The role of single nucleotide variant rs3819817 of the
            Histidine Ammonia-Lyase gene and 25-Hydroxyvitamin D on bone
            mineral density, adiposity markers, and skin pigmentation, in
            Mexican population.
REFERENCE   2  (bases 1 to 3892)
  AUTHORS   Chen,K., Liu,H., Liu,Z., Bloomer,W., Amos,C.I., Lee,J.E., Li,X.,
            Nan,H. and Wei,Q.
  TITLE     Genetic variants in glutamine metabolic pathway genes predict
            cutaneous melanoma-specific survival
  JOURNAL   Mol Carcinog 58 (11), 2091-2103 (2019)
   PUBMED   31435991
  REMARK    GeneRIF: In the analysis of the genotype tissue expression (GTEx)
            project datasets, HAL rs17676826 C and NOXRED1 rs8012548 G alleles
            were significantly associated with their mRNA expression levels in
            sun-exposed skin of the lower leg (P = 6.62 x 10(-6) and 1.37 x
            10(-7) , respectively) and in sun-not-exposed suprapubic skin (P <
            .001 and 1.43 x 10(-8) , respectively).
REFERENCE   3  (bases 1 to 3892)
  AUTHORS   Yu,B., Li,A.H., Muzny,D., Veeraraghavan,N., de Vries,P.S.,
            Bis,J.C., Musani,S.K., Alexander,D., Morrison,A.C., Franco,O.H.,
            Uitterlinden,A., Hofman,A., Dehghan,A., Wilson,J.G., Psaty,B.M.,
            Gibbs,R., Wei,P. and Boerwinkle,E.
  TITLE     Association of Rare Loss-Of-Function Alleles in HAL, Serum
            Histidine: Levels and Incident Coronary Heart Disease
  JOURNAL   Circ Cardiovasc Genet 8 (2), 351-355 (2015)
   PUBMED   25575548
  REMARK    GeneRIF: Three LoF mutations in HAL were associated with increased
            histidine levels, which in turn were shown to be inversely related
            to the risk of CHD among both African Americans and European
            Americans.
REFERENCE   4  (bases 1 to 3892)
  AUTHORS   Davila,S., Froeling,F.E., Tan,A., Bonnard,C., Boland,G.J.,
            Snippe,H., Hibberd,M.L. and Seielstad,M.
  TITLE     New genetic associations detected in a host response study to
            hepatitis B vaccine
  JOURNAL   Genes Immun 11 (3), 232-238 (2010)
   PUBMED   20237496
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 3892)
  AUTHORS   Welsh,M.M., Karagas,M.R., Applebaum,K.M., Spencer,S.K., Perry,A.E.
            and Nelson,H.H.
  TITLE     A role for ultraviolet radiation immunosuppression in non-melanoma
            skin cancer as evidenced by gene-environment interactions
  JOURNAL   Carcinogenesis 29 (10), 1950-1954 (2008)
   PUBMED   18641401
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-environment interaction. (HuGE Navigator)
REFERENCE   6  (bases 1 to 3892)
  AUTHORS   Aleman,G., Ortiz,V., Langley,E., Tovar,A.R. and Torres,N.
  TITLE     Regulation by glucagon of the rat histidase gene promoter in
            cultured rat hepatocytes and human hepatoblastoma cells
  JOURNAL   Am J Physiol Endocrinol Metab 289 (1), E172-E179 (2005)
   PUBMED   15741241
  REMARK    GeneRIF: This evidence supports that the Hal gene is turned on by
            glucocorticoids and by glucagon either via PKC or PKA, but prefers
            the PKA pathway.
REFERENCE   7  (bases 1 to 3892)
  AUTHORS   Kawai,Y., Moriyama,A., Asai,K., Coleman-Campbell,C.M., Sumi,S.,
            Morishita,H. and Suchi,M.
  TITLE     Molecular characterization of histidinemia: identification of four
            missense mutations in the histidase gene
  JOURNAL   Hum Genet 116 (5), 340-346 (2005)
   PUBMED   15806399
  REMARK    GeneRIF: This report describes the first mutations occurring in the
            coding region of the histidase structural gene in patients with
            histidinemia.
            Erratum:[Hum Genet. 2005 Dec;118(3-4):531-2]
REFERENCE   8  (bases 1 to 3892)
  AUTHORS   Suchi,M., Sano,H., Mizuno,H. and Wada,Y.
  TITLE     Molecular cloning and structural characterization of the human
            histidase gene (HAL)
  JOURNAL   Genomics 29 (1), 98-104 (1995)
   PUBMED   8530107
REFERENCE   9  (bases 1 to 3892)
  AUTHORS   Suchi,M., Harada,N., Wada,Y. and Takagi,Y.
  TITLE     Molecular cloning of a cDNA encoding human histidase
  JOURNAL   Biochim Biophys Acta 1216 (2), 293-295 (1993)
   PUBMED   7916645
REFERENCE   10 (bases 1 to 3892)
  AUTHORS   Taylor,R.G., Garcia-Heras,J., Sadler,S.J., Lafreniere,R.G.,
            Willard,H.F., Ledbetter,D.H. and McInnes,R.R.
  TITLE     Localization of histidase to human chromosome region 12q22----q24.1
            and mouse chromosome region 10C2----D1
  JOURNAL   Cytogenet Cell Genet 56 (3-4), 178-181 (1991)
   PUBMED   2055114
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL596896.1, D16626.1,
            AC126174.9 and AI248003.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002108.3.
            
            Summary: Histidine ammonia-lyase is a cytosolic enzyme catalyzing
            the first reaction in histidine catabolism, the nonoxidative
            deamination of L-histidine to trans-urocanic acid. Histidine
            ammonia-lyase defects cause histidinemia which is characterized by
            increased histidine and histamine and decreased urocanic acid in
            body fluids. Several transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Apr
            2012].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR5189664.162396.1, D16626.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261208.8/ ENSP00000261208.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-105               AL596896.1         22-126
            106-3190            D16626.1           1-3085
            3191-3653           AC126174.9         79776-80238         c
            3654-3892           AI248003.1         15-253              c
FEATURES             Location/Qualifiers
     source          1..3892
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.1"
     gene            1..3892
                     /gene="HAL"
                     /gene_synonym="HIS; HSTD"
                     /note="histidine ammonia-lyase"
                     /db_xref="GeneID:3034"
                     /db_xref="HGNC:HGNC:4806"
                     /db_xref="MIM:609457"
     exon            1..267
                     /gene="HAL"
                     /gene_synonym="HIS; HSTD"
                     /inference="alignment:Splign:2.1.0"
     exon            268..595
                     /gene="HAL"
                     /gene_synonym="HIS; HSTD"
                     /inference="alignment:Splign:2.1.0"
     CDS             349..2322
                     /gene="HAL"
                     /gene_synonym="HIS; HSTD"
                     /EC_number="4.3.1.3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     histidase"
                     /codon_start=1
                     /product="histidine ammonia-lyase isoform 1"
                     /protein_id="NP_002099.1"
                     /db_xref="CCDS:CCDS9058.1"
                     /db_xref="GeneID:3034"
                     /db_xref="HGNC:HGNC:4806"
                     /db_xref="MIM:609457"
                     /translation="MPRYTVHVRGEWLAVPCQDAQLTVGWLGREAVRRYIKNKPDNGG
                     FTSVDDAHFLVRRCKGLGLLDNEDRLEVALENNEFVEVVIEGDAMSPDFIPSQPEGVY
                     LYSKYREPEKYIELDGDRLTTEDLVNLGKGRYKIKLTPTAEKRVQKSREVIDSIIKEK
                     TVVYGITTGFGKFARTVIPINKLQELQVNLVRSHSSGVGKPLSPERCRMLLALRINVL
                     AKGYSGISLETLKQVIEMFNASCLPYVPEKGTVGASGDLAPLSHLALGLVGEGKMWSP
                     KSGWADAKYVLEAHGLKPVILKPKEGLALINGTQMITSLGCEAVERASAIARQADIVA
                     ALTLEVLKGTTKAFDTDIHALRPHRGQIEVAFRFRSLLDSDHHPSEIAESHRFCDRVQ
                     DAYTLRCCPQVHGVVNDTIAFVKNIITTELNSATDNPMVFANRGETVSGGNFHGEYPA
                     KALDYLAIGIHELAAISERRIERLCNPSLSELPAFLVAEGGLNSGFMIAHCTAAALVS
                     ENKALCHPSSVDSLSTSAATEDHVSMGGWAARKALRVIEHVEQVLAIELLAACQGIEF
                     LRPLKTTTPLEKVYDLVRSVVRPWIKDRFMAPDIEAAHRLLLEQKVWEVAAPYIEKYR
                     MEHIPESRPLSPTAFSLQFLHKKSTKIPESEDL"
     exon            596..656
                     /gene="HAL"
                     /gene_synonym="HIS; HSTD"
                     /inference="alignment:Splign:2.1.0"
     exon            657..684
                     /gene="HAL"
                     /gene_synonym="HIS; HSTD"
                     /inference="alignment:Splign:2.1.0"
     exon            685..759
                     /gene="HAL"
                     /gene_synonym="HIS; HSTD"
                     /inference="alignment:Splign:2.1.0"
     exon            760..832
                     /gene="HAL"
                     /gene_synonym="HIS; HSTD"
                     /inference="alignment:Splign:2.1.0"
     exon            833..899
                     /gene="HAL"
                     /gene_synonym="HIS; HSTD"
                     /inference="alignment:Splign:2.1.0"
     exon            900..937
                     /gene="HAL"
                     /gene_synonym="HIS; HSTD"
                     /inference="alignment:Splign:2.1.0"
     exon            938..1063
                     /gene="HAL"
                     /gene_synonym="HIS; HSTD"
                     /inference="alignment:Splign:2.1.0"
     exon            1064..1203
                     /gene="HAL"
                     /gene_synonym="HIS; HSTD"
                     /inference="alignment:Splign:2.1.0"
     exon            1204..1251
                     /gene="HAL"
                     /gene_synonym="HIS; HSTD"
                     /inference="alignment:Splign:2.1.0"
     exon            1252..1399
                     /gene="HAL"
                     /gene_synonym="HIS; HSTD"
                     /inference="alignment:Splign:2.1.0"
     exon            1400..1495
                     /gene="HAL"
                     /gene_synonym="HIS; HSTD"
                     /inference="alignment:Splign:2.1.0"
     exon            1496..1554
                     /gene="HAL"
                     /gene_synonym="HIS; HSTD"
                     /inference="alignment:Splign:2.1.0"
     exon            1555..1635
                     /gene="HAL"
                     /gene_synonym="HIS; HSTD"
                     /inference="alignment:Splign:2.1.0"
     exon            1636..1701
                     /gene="HAL"
                     /gene_synonym="HIS; HSTD"
                     /inference="alignment:Splign:2.1.0"
     exon            1702..1867
                     /gene="HAL"
                     /gene_synonym="HIS; HSTD"
                     /inference="alignment:Splign:2.1.0"
     exon            1868..2002
                     /gene="HAL"
                     /gene_synonym="HIS; HSTD"
                     /inference="alignment:Splign:2.1.0"
     exon            2003..2111
                     /gene="HAL"
                     /gene_synonym="HIS; HSTD"
                     /inference="alignment:Splign:2.1.0"
     exon            2112..2181
                     /gene="HAL"
                     /gene_synonym="HIS; HSTD"
                     /inference="alignment:Splign:2.1.0"
     exon            2182..3892
                     /gene="HAL"
                     /gene_synonym="HIS; HSTD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3871..3876
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HAL"
                     /gene_synonym="HIS; HSTD"
                     /note="hexamer: AATAAA"
     polyA_site      3892
                     /gene="HAL"
                     /gene_synonym="HIS; HSTD"
                     /note="major polyA site"
ORIGIN      
        1 agataaagac aggaacatgg tgtttataag ctgcccttaa tggcagagaa cacagacaga
       61 aacgagggaa gagagagaaa ttggggaccc tgaagaaagg gggccagcag caggtaggtg
      121 ccatcaggga caagaacagc acctcccagg gtgggagacc ccaggccttt ctggcagcag
      181 gtctggatgg aaagtggaca ggaggctcac ccgtctgcat cccctgctcc tgcccctgct
      241 cggctacaaa aaccaaaggg acagcagctg accacacccc ggtagccact cctgcataaa
      301 gctctcccct cctgtgacca gctgaggacc tcaggctgca gcggagccat gcccagatac
      361 acggtgcacg tacgtgggga atggctggca gtgccctgcc aggacgcgca gctcactgtg
      421 ggctggctgg gccgggaggc cgtgaggcgc tatatcaaga ataagcccga caatggtggc
      481 ttcacctccg tggatgacgc gcacttcctt gtgcgccggt gcaagggcct gggcctgctg
      541 gacaacgagg accggctcga ggtggcccta gagaacaacg agttcgtgga agtggttata
      601 gagggtgatg ccatgtctcc tgacttcatt ccatctcaac cagaaggagt ttatctatac
      661 agcaagtacc gggagcctga aaagtacatc gagttagatg gagaccgtct gaccacggag
      721 gatctggtca acttgggaaa gggacgctac aaaataaagc tcaccccaac agctgagaag
      781 agggtgcaga aatccaggga ggtcatagat agcatcataa aagagaaaac agttgtttac
      841 ggtattacta caggttttgg gaaatttgcc agaactgtaa ttcctatcaa taagctacag
      901 gagcttcagg tcaacttagt acgctcacat tcttcaggtg ttgggaaacc actaagtcct
      961 gagaggtgtc ggatgctctt ggctttaagg atcaatgtct tagccaaagg atacagtggc
     1021 atttccctgg agaccctcaa acaagtcata gaaatgttta atgcctcctg cctgccctat
     1081 gtcccagaga aaggaaccgt tggtgccagt ggagaccttg ccccactctc tcatcttgct
     1141 cttgggctag ttggagaagg gaagatgtgg tctccgaaga gtggctgggc tgatgctaaa
     1201 tacgtgctag aagcccatgg attgaaacca gttattttaa aaccaaaaga gggcctggca
     1261 ctcatcaatg ggacgcagat gatcacatcc ctgggctgtg aagctgtaga gcgagccagt
     1321 gctattgcac ggcaggctga cattgtggca gccctgaccc ttgaggtgct gaagggcacc
     1381 accaaagcct ttgacactga cattcatgct cttcgacctc accgtgggca aattgaagtt
     1441 gcttttcggt ttcggtcact cttggactca gatcaccacc catcagaaat agcagagagt
     1501 cacaggttct gtgatcgcgt ccaggatgca tacaccttgc gctgctgtcc acaggtccat
     1561 ggtgtggtga atgatacaat agcatttgtg aagaacatca ttaccacaga actgaacagc
     1621 gcaacagata atcctatggt ctttgccaat aggggagaga cagtttctgg aggaaacttc
     1681 catggtgaat acccagccaa agccctagac tacttggcca ttggcatcca tgaacttgct
     1741 gcaatcagtg agagaagaat cgagcggctc tgcaatccct ccctcagtga gctgcctgcc
     1801 ttcctggtgg ctgaaggtgg tctgaactct gggttcatga tagctcactg cacggcagca
     1861 gcccttgttt ctgagaacaa ggctctgtgc catccctcgt ctgttgactc cctctccacc
     1921 agcgcagcca cggaggacca cgtctccatg ggaggatggg cagcaaggaa agccctcagg
     1981 gtcatcgagc atgtggagca agtgctggcc atcgagctcc ttgcagcctg ccagggcata
     2041 gagtttctac gtcccctgaa aacaaccact ccgctggaga aggtctatga cctggtgcgc
     2101 tctgttgtaa ggccctggat aaaagatcgc ttcatggccc cggacatcga ggcagcccac
     2161 aggctgctcc tggagcagaa ggtttgggaa gtagctgctc catacattga aaaatacaga
     2221 atggagcata ttccagaatc aagacctctt tctccaacag ccttttcact gcaatttctg
     2281 cacaagaaat ccaccaaaat cccggagtct gaggaccttt aatgggcttt gtcatgaagt
     2341 agcagatgag agggcagtca gtttagcaca aagcaatact aggctgaagg agagacctga
     2401 gaactttcct aggtagatca atccattgta tcattcagtt cttctaaagc ctacgttggt
     2461 taggctgatg gcagtattat agttgctaaa ttcagcactg tgttcctgtt gtcgtggttc
     2521 aagacccacc aggtattttc agattataaa acttttcttt ctttcttaac agtttcaaca
     2581 ggccactcac tcttaagggt gagaagaata accacaattg tatgtgcctg ttttttactc
     2641 ttagcattag atgaattcaa atttggaaac agattgatag caattttttc taaaaacatt
     2701 agacttttgt taaccttttt tttttttttt aaatttgctt caacaagctc tccaccagtt
     2761 gactttcttt ggctaatttt actttgcatg atatgcctta atatgccttc ataaataacc
     2821 attttaagtc ataatttgtc cttaagctgc ttttttcttc tattaattgg atcatagtaa
     2881 agagtagtca atagggtctt cagctattaa ttgtagaggt gattaaaacc aacaaggagt
     2941 ttcatgtgca aaggagataa ggaatgaata taaagattgc tatttgggtg gctcttatta
     3001 aactgtgtat tttgtactta tcactacacg tatcccccaa atgcttacat gggagtttga
     3061 ggttagtatt ttcacttcct tggtgttagt actctattca cattcttatt gtaaccttcc
     3121 tcatttcaca gataaggaat ctttggggat taaccaacct cctttctgta atggtaatca
     3181 ttaaaataag tcctattgat aaaggtcaga tggagcccta gagtgtatta ctgcatctat
     3241 ttttttcccc gagaagataa aggaccttca gggatggctt aagtgtatct gtccagatga
     3301 aggatgggtc acatgacctc ttggcttccc aagtctaagc tctgtgactt tgcaccagtg
     3361 tgtgcatata tgtgcaaggc ccttcaagtg gtctgaaacc gtggctctaa aaaccacagc
     3421 tggtggagag gaggacagac acacttgcca ccttgcctac ctaattgcca tctaaaatgg
     3481 gccgaacagt ggatttcaca atagagtttt caccctttag atttacaacc tgtcaggtgg
     3541 aaactgaagt gaaaactgct gcacacagca attcagggag caaaaaatgt gctgaggaga
     3601 ctgtttacct aaaggttgtt cttggtgcta ttccttgtca aaatgtgaac acacacaaat
     3661 gaggtttgtg cattgtcatc cgtgggctgc cattgagcca gtaaccccca gtggtctcat
     3721 ggtgctcttc gctccagttt ggggaatgct ggattctttc agcccctgca gccctccagg
     3781 tcaaaatgac actttgtcac tgagttttct acacagctct attagtaact gacagcacac
     3841 gccttcaagg gaacttcaag ggaaacatgg aataaactaa gtctcaattg cc
//
