LOCUS       NM_024306               2405 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA.
ACCESSION   NM_024306
VERSION     NM_024306.5
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 2405)
  AUTHORS   Mo,L., Tie,X., Che,F., Zhang,L., Li,B., Wang,G. and Yang,Y.
  TITLE     A Novel Homozygous Deletion Including Exon 1 of FA2H Gene Causes
            Spastic Paraplegia-35: Genetic and Lipidomics Analysis of the
            Patients
  JOURNAL   Pediatr Neurol 152, 200-208 (2024)
   PUBMED   38306901
  REMARK    GeneRIF: A Novel Homozygous Deletion Including Exon 1 of FA2H Gene
            Causes Spastic Paraplegia-35: Genetic and Lipidomics Analysis of
            the Patients.
REFERENCE   2  (bases 1 to 2405)
  AUTHORS   Hashemi,N., Abadi,R.N.S., Alavi,A., Rohani,M., Ghasemi,A. and
            Tavasoli,A.R.
  TITLE     The first reports of FA2H-associated neurodegeneration from two
            unrelated Iranian families
  JOURNAL   Neurol Sci 44 (12), 4359-4362 (2023)
   PUBMED   37410270
  REMARK    GeneRIF: The first reports of FA2H-associated neurodegeneration
            from two unrelated Iranian families.
REFERENCE   3  (bases 1 to 2405)
  AUTHORS   Eckhardt,M.
  TITLE     Fatty Acid 2-Hydroxylase and 2-Hydroxylated Sphingolipids:
            Metabolism and Function in Health and Diseases
  JOURNAL   Int J Mol Sci 24 (5), 4908 (2023)
   PUBMED   36902339
  REMARK    GeneRIF: Fatty Acid 2-Hydroxylase and 2-Hydroxylated Sphingolipids:
            Metabolism and Function in Health and Diseases.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2405)
  AUTHORS   Uchida,Y., Hama,H., Alderson,N.L., Douangpanya,S., Wang,Y.,
            Crumrine,D.A., Elias,P.M. and Holleran,W.M.
  TITLE     Fatty acid 2-hydroxylase, encoded by FA2H, accounts for
            differentiation-associated increase in 2-OH ceramides during
            keratinocyte differentiation
  JOURNAL   J Biol Chem 282 (18), 13211-13219 (2007)
   PUBMED   17355976
  REMARK    GeneRIF: late differentiation-linked increases in FA2H expression
            are essential for epidermal permeability barrier homeostasis.
REFERENCE   5  (bases 1 to 2405)
  AUTHORS   Alderson,N.L., Walla,M.D. and Hama,H.
  TITLE     A novel method for the measurement of in vitro fatty acid
            2-hydroxylase activity by gas chromatography-mass spectrometry
  JOURNAL   J Lipid Res 46 (7), 1569-1575 (2005)
   PUBMED   15863841
REFERENCE   6  (bases 1 to 2405)
  AUTHORS   Alderson,N.L., Rembiesa,B.M., Walla,M.D., Bielawska,A.,
            Bielawski,J. and Hama,H.
  TITLE     The human FA2H gene encodes a fatty acid 2-hydroxylase
  JOURNAL   J Biol Chem 279 (47), 48562-48568 (2004)
   PUBMED   15337768
  REMARK    GeneRIF: the human FA2H gene encodes a fatty acid 2-hydroxylase
            involved in the formation of myelin 2-hydroxy galactosylceramides
            and -sulfatides
REFERENCE   7  (bases 1 to 2405)
  AUTHORS   Gregory,A. and Hayflick,S.
  TITLE     Neurodegeneration with Brain Iron Accumulation Disorders Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23447832
REFERENCE   8  (bases 1 to 2405)
  AUTHORS   Gregory,A., Venkateswaran,S. and Hayflick,S.J.
  TITLE     Fatty Acid Hydroxylase-Associated Neurodegeneration
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   21735565
REFERENCE   9  (bases 1 to 2405)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
REFERENCE   10 (bases 1 to 2405)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA890369.1 and BC017049.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_024306.4.
            
            Summary: This gene encodes a protein that catalyzes the synthesis
            of 2-hydroxysphingolipids, a subset of sphingolipids that contain
            2-hydroxy fatty acids. Sphingolipids play roles in many cellular
            processes and their structural diversity arises from modification
            of the hydrophobic ceramide moiety, such as by 2-hydroxylation of
            the N-acyl chain, and the existence of many different head groups.
            Mutations in this gene have been associated with leukodystrophy
            dysmyelinating with spastic paraparesis with or without
            dystonia.[provided by RefSeq, Mar 2010].
            
            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 :: SRR3476690.205016.1, AK058016.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000219368.8/ ENSP00000219368.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                DA890369.1         12-29
            19-2405             BC017049.1         1-2387
FEATURES             Location/Qualifiers
     source          1..2405
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q23.1"
     gene            1..2405
                     /gene="FA2H"
                     /gene_synonym="FAAH; FAH1; FAXDC1; SCS7; SPG35"
                     /note="fatty acid 2-hydroxylase"
                     /db_xref="GeneID:79152"
                     /db_xref="HGNC:HGNC:21197"
                     /db_xref="MIM:611026"
     exon            1..335
                     /gene="FA2H"
                     /gene_synonym="FAAH; FAH1; FAXDC1; SCS7; SPG35"
                     /inference="alignment:Splign:2.1.0"
     CDS             66..1184
                     /gene="FA2H"
                     /gene_synonym="FAAH; FAH1; FAXDC1; SCS7; SPG35"
                     /note="fatty acid hydroxylase domain containing 1; spastic
                     paraplegia 35 (autosomal recessive); fatty acid
                     alpha-hydroxylase; fatty acid hydroxylase
                     domain-containing protein 1"
                     /codon_start=1
                     /product="fatty acid 2-hydroxylase"
                     /protein_id="NP_077282.3"
                     /db_xref="CCDS:CCDS10911.1"
                     /db_xref="GeneID:79152"
                     /db_xref="HGNC:HGNC:21197"
                     /db_xref="MIM:611026"
                     /translation="MAPAPPPAASFSPSEVQRRLAAGACWVRRGARLYDLSSFVRHHP
                     GGEQLLRARAGQDISADLDGPPHRHSANARRWLEQYYVGELRGEQQGSMENEPVALEE
                     TQKTDPAMEPRFKVVDWDKDLVDWRKPLLWQVGHLGEKYDEWVHQPVTRPIRLFHSDL
                     IEGLSKTVWYSVPIIWVPLVLYLSWSYYRTFAQGNVRLFTSFTTEYTVAVPKSMFPGL
                     FMLGTFLWSLIEYLIHRFLFHMKPPSDSYYLIMLHFVMHGQHHKAPFDGSRLVFPPVP
                     ASLVIGVFYLCMQLILPEAVGGTVFAGGLLGYVLYDMTHYYLHFGSPHKGSYLYSLKA
                     HHVKHHFAHQKSGFGISTKLWDYCFHTLTPEKPHLKTQ"
     exon            336..428
                     /gene="FA2H"
                     /gene_synonym="FAAH; FAH1; FAXDC1; SCS7; SPG35"
                     /inference="alignment:Splign:2.1.0"
     exon            429..571
                     /gene="FA2H"
                     /gene_synonym="FAAH; FAH1; FAXDC1; SCS7; SPG35"
                     /inference="alignment:Splign:2.1.0"
     exon            572..678
                     /gene="FA2H"
                     /gene_synonym="FAAH; FAH1; FAXDC1; SCS7; SPG35"
                     /inference="alignment:Splign:2.1.0"
     exon            679..851
                     /gene="FA2H"
                     /gene_synonym="FAAH; FAH1; FAXDC1; SCS7; SPG35"
                     /inference="alignment:Splign:2.1.0"
     exon            852..1104
                     /gene="FA2H"
                     /gene_synonym="FAAH; FAH1; FAXDC1; SCS7; SPG35"
                     /inference="alignment:Splign:2.1.0"
     exon            1105..2405
                     /gene="FA2H"
                     /gene_synonym="FAAH; FAH1; FAXDC1; SCS7; SPG35"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2361..2366
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FA2H"
                     /gene_synonym="FAAH; FAH1; FAXDC1; SCS7; SPG35"
                     /note="hexamer: AATAAA"
     polyA_site      2405
                     /gene="FA2H"
                     /gene_synonym="FAAH; FAH1; FAXDC1; SCS7; SPG35"
                     /note="major polyA site"
ORIGIN      
        1 agaggcgctc agggtggcag cagagcagac gccgggctgc gcgctgggag ctgcggtctc
       61 cggccatggc ccccgctccg ccccccgccg cctccttctc gccctccgag gtccagcggc
      121 gcctggcggc cggcgcgtgc tgggtccgcc gcggggcccg cctctacgac ctctccagct
      181 tcgtgcggca ccacccgggg ggcgagcagc tgctgcgggc cagggcgggc caggacatca
      241 gcgccgacct ggacgggccg ccgcacaggc actcggccaa cgcgcgccgc tggctggagc
      301 agtactacgt gggagagctc cgcggggagc agcagggctc catggagaac gagcctgtag
      361 cccttgagga aactcagaag acagatcctg ctatggaacc acggttcaaa gtggtggatt
      421 gggacaagga cctggtggac tggcgaaagc ctctcctgtg gcaggtgggc cacttgggag
      481 agaagtacga tgagtgggtt caccagccgg tgaccaggcc catccgcctc ttccactcag
      541 acctcattga gggcctctct aagactgtct ggtacagtgt ccccatcatc tgggtgcccc
      601 tggtgctgta tctcagctgg tcctactacc gaacctttgc ccagggcaac gtccgactct
      661 tcacgtcatt tacaacagag tacacggtgg cagtgcccaa gtccatgttc cccgggctct
      721 tcatgctggg gacattcctc tggagcctca tcgagtacct catccaccgc ttcctgttcc
      781 acatgaagcc ccccagcgac agctattacc tcatcatgct gcacttcgtc atgcacggcc
      841 agcaccacaa ggcacccttc gacggctccc gcctggtctt cccccctgtg ccagcctccc
      901 tggtgatcgg cgtcttctac ttgtgcatgc agctcatcct gcccgaggca gtagggggca
      961 ctgtgtttgc ggggggcctc ctgggctacg tcctctatga catgacccat tactacctgc
     1021 actttggctc gccgcacaag ggctcctacc tgtacagcct gaaggcccac cacgtcaagc
     1081 accactttgc acatcagaag tcaggatttg gtatcagcac taaattgtgg gattactgtt
     1141 tccacaccct cactccagag aaaccccacc tgaagacgca gtgacaactc ccaccccctc
     1201 cgtcctgccc tcagcccggc cctggcccct tcccgacccc cacccgccat tcagacccca
     1261 ttaagaaggt tggcttggcc aggcaggatg ggctgtgtcc ggccctgcag cctagtggaa
     1321 ggtgctgagg gggccctgag gcaggaccgc cctcctgacc cctggtagga gggtcacatc
     1381 cacttggtgg ccaggtggcc cttggtgacc cacttcttcc tggagcgtcc ctgcctagag
     1441 ctcagcccac aggactgctt caggccgtgg ccacaggtag cagccgcaag gggaaatgaa
     1501 gaaaactgag ccctcgtggc cacctgtgtc acccttgtgc cttagcctca tgggctgcct
     1561 aggagctgcc tgcacggcac agctcgcttt cacagtcaga agtgggtctg tgggatctgt
     1621 ggtccctgtc ctccctgctg tcccttctgg ggaggctttg gtggctctga ggtggacaaa
     1681 gagctctcgc aagaagagac agcgtgatgc ctcccacagt ccaccccaga ccctggggca
     1741 gcccctctgg ccctgccagc tgcctgcgtc gttgggccca gggtggctgg caggagtccc
     1801 agctgcttgc tttaggacct ggcagctttt cttgccgtcc ctcccctgcc tccagaatca
     1861 cagcccttct ccccaaggga ggctgaggag gcttctccac cagtggcagc cccaccccgt
     1921 ccctggccat tcttggcctc caccccgctc aggcccctac tcgggcgctc ccagaaggag
     1981 ccacctctca gtgcctcacc tccccctgcc tcccagcctc cgcagatgag gttcctgccc
     2041 cttcctcctc gtaaccaaaa ccctcactgc tcccaggacg gtcttattta taaaccagat
     2101 acatgttctt agtctggtcc cagaccaagg agctggtcag acggcccttt ctaatcctac
     2161 atgttgagct tatgtaaaaa atgttgtttc ctcctgtttt tggttccttt cttacccaca
     2221 aaccattact acttgaaact taaaaaactc gccaagtgta aaggctaaag agaagcagtt
     2281 tgacggacct tgtgatttgt actgtttgct gcggagctat ttaaagattt tggaataaat
     2341 atacaaaact acggttgtga aataaaaact taaattgtat attttgaaaa ataaaacact
     2401 gaaaa
//
