LOCUS       NM_001099287            3085 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens NIPA like domain containing 4 (NIPAL4), transcript
            variant 1, mRNA.
ACCESSION   NM_001099287 XM_001133724 XM_371777
VERSION     NM_001099287.2
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 3085)
  AUTHORS   Rossel,S.V.J., Clabbers,J.M.K., Steijlen,P.M., van den Akker,P.C.,
            Spuls,P.I., Middelkamp Hup,M.A., van Maarle,M.C., Vreeburg,M.,
            Bolling,M.C., van Geel,M. and Gostynski,A.
  TITLE     Expanding the molecular and clinical spectrum of autosomal
            recessive congenital ichthyosis caused by pathogenic variants in
            NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions
  JOURNAL   J Eur Acad Dermatol Venereol 37 (12), e1405-e1409 (2023)
   PUBMED   37458571
  REMARK    GeneRIF: Expanding the molecular and clinical spectrum of autosomal
            recessive congenital ichthyosis caused by pathogenic variants in
            NIPAL4 and PNPLA1 and evaluation of novel therapeutic
            interventions.
REFERENCE   2  (bases 1 to 3085)
  AUTHORS   Charfeddine,C., Laroussi,N., Mkaouar,R., Jouini,R., Khayat,O.,
            Redissi,A., Mosbah,A., Dallali,H., Chedly Debbiche,A., Zaouak,A.,
            Fenniche,S., Abdelhak,S. and Hammami-Ghorbel,H.
  TITLE     Expanding the clinical phenotype associated with NIPAL4 mutation:
            Study of a Tunisian consanguineous family with erythrokeratodermia
            variabilis-Like Autosomal Recessive Congenital Ichthyosis
  JOURNAL   PLoS One 16 (10), e0258777 (2021)
   PUBMED   34669720
  REMARK    GeneRIF: Expanding the clinical phenotype associated with NIPAL4
            mutation: Study of a Tunisian consanguineous family with
            erythrokeratodermia variabilis-Like Autosomal Recessive Congenital
            Ichthyosis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3085)
  AUTHORS   Akbar,A., Bint-E-Farrakh,M., Crosby,A.H., Gul,A. and Harlalka,G.V.
  TITLE     Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital
            ichthyosis in Pakistani families
  JOURNAL   Congenit Anom (Kyoto) 60 (5), 149-150 (2020)
   PUBMED   31883158
  REMARK    GeneRIF: Variants in NIPAL4 and ALOXE3 cause autosomal recessive
            congenital ichthyosis in Pakistani families.
REFERENCE   4  (bases 1 to 3085)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 3085)
  AUTHORS   Wajid,M., Kurban,M., Shimomura,Y. and Christiano,A.M.
  TITLE     NIPAL4/ichthyin is expressed in the granular layer of human
            epidermis and mutated in two Pakistani families with autosomal
            recessive ichthyosis
  JOURNAL   Dermatology 220 (1), 8-14 (2010)
   PUBMED   20016120
  REMARK    GeneRIF: A recurrent missense mutation, p.A176D, was identified in
            individuals with autosomal recessive ichthyosis.
REFERENCE   6  (bases 1 to 3085)
  AUTHORS   Rajaraman,P., Brenner,A.V., Butler,M.A., Wang,S.S., Pfeiffer,R.M.,
            Ruder,A.M., Linet,M.S., Yeager,M., Wang,Z., Orr,N., Fine,H.A.,
            Kwon,D., Thomas,G., Rothman,N., Inskip,P.D. and Chanock,S.J.
  TITLE     Common variation in genes related to innate immunity and risk of
            adult glioma
  JOURNAL   Cancer Epidemiol Biomarkers Prev 18 (5), 1651-1658 (2009)
   PUBMED   19423540
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3085)
  AUTHORS   Pavez Lorie,E., Ganemo,A., Borgers,M., Wouters,L., Blockhuys,S.,
            van de Plassche,L., Torma,H. and Vahlquist,A.
  TITLE     Expression of retinoid-regulated genes in lamellar ichthyosis vs.
            healthy control epidermis: changes after oral treatment with
            liarozole
  JOURNAL   Acta Derm Venereol 89 (1), 12-20 (2009)
   PUBMED   19197536
  REMARK    GeneRIF: The results suggest that liarozole exerts a therapeutic
            effect in lamellar ichthyosis by mildly affecting the expression of
            retinoid- regulated genes in epidermis.
REFERENCE   8  (bases 1 to 3085)
  AUTHORS   Dahlqvist,J., Klar,J., Hausser,I., Anton-Lamprecht,I., Pigg,M.H.,
            Gedde-Dahl,T. Jr., Ganemo,A., Vahlquist,A. and Dahl,N.
  TITLE     Congenital ichthyosis: mutations in ichthyin are associated with
            specific structural abnormalities in the granular layer of
            epidermis
  JOURNAL   J Med Genet 44 (10), 615-620 (2007)
   PUBMED   17557927
  REMARK    GeneRIF: mutations in ichthyin are associated with specific
            structural abnormalities in the granular layer of epidermis
REFERENCE   9  (bases 1 to 3085)
  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
  REMARK    GeneRIF: Six homozygous mutations including one nonsense and five
            missense mutations were identified in a new gene, ichthyin, on
            chromosome 5q33 in patients with autosomal recessive congenital
            ichthyosis (ichthyin).
REFERENCE   10 (bases 1 to 3085)
  AUTHORS   Richard,G.
  TITLE     Autosomal Recessive Congenital Ichthyosis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301593
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008676.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 25, 2020 this sequence version replaced NM_001099287.1.
            
            Summary: This gene likely encodes a membrane receptor. Mutations in
            this gene have been associated with autosomal recessive congenital
            ichthyosis. [provided by RefSeq, Feb 2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: AK026158.1, SRR14038195.688073.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000311946.8/ ENSP00000311687.8
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-145               AC008676.6         93991-94135         c
            146-385             AC008676.6         91015-91254         c
            386-442             AC008676.6         87243-87299         c
            443-533             AC008676.6         85536-85626         c
            534-694             AC008676.6         82531-82691         c
            695-3085            AC008676.6         79626-82016         c
FEATURES             Location/Qualifiers
     source          1..3085
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q33.3"
     gene            1..3085
                     /gene="NIPAL4"
                     /gene_synonym="ARCI6; ICHTHYIN; ICHYN; NIPA4; SLC57A6"
                     /note="NIPA like domain containing 4"
                     /db_xref="GeneID:348938"
                     /db_xref="HGNC:HGNC:28018"
                     /db_xref="MIM:609383"
     exon            1..145
                     /gene="NIPAL4"
                     /gene_synonym="ARCI6; ICHTHYIN; ICHYN; NIPA4; SLC57A6"
                     /inference="alignment:Splign:2.1.0"
     CDS             109..1323
                     /gene="NIPAL4"
                     /gene_synonym="ARCI6; ICHTHYIN; ICHYN; NIPA4; SLC57A6"
                     /note="isoform 1 is encoded by transcript variant 1;
                     magnesium transporter NIPA4; NIPA-like protein 4;
                     non-imprinted in Prader-Willi/Angelman syndrome region
                     protein 4"
                     /codon_start=1
                     /product="magnesium transporter NIPA4 isoform 1"
                     /protein_id="NP_001092757.2"
                     /db_xref="CCDS:CCDS47328.2"
                     /db_xref="GeneID:348938"
                     /db_xref="HGNC:HGNC:28018"
                     /db_xref="MIM:609383"
                     /translation="MELRVSNTSCENGSLLHLYCSSQEVLCQIVNDLSPEVPSNATFH
                     SWQERIRQNYGFYIGLGLAFLSSFLIGSSVILKKKGLLRLVATGATRAVDGGFGYLKD
                     AMWWAGFLTMAAGEVANFGAYAFAPATVVTPLGALSVLISAILSSYFLRESLNLLGKL
                     GCVICVAGSTVMVIHAPEEEKVTTIMEMASKMKDTGFIVFAVLLLVSCLILIFVIAPR
                     YGQRNILIYIIICSVIGAFSVAAVKGLGITIKNFFQGLPVVRHPLPYILSLILALSLS
                     TQVNFLNRALDIFNTSLVFPIYYVFFTTVVVTSSIILFKEWYSMSAVDIAGTLSGFVT
                     IILGVFMLHAFKDLDISCASLPHMHKNPPPSPAPEPTVIRLEDKNVLVDNIELASTSS
                     PEEKPKVFIIHS"
     exon            146..385
                     /gene="NIPAL4"
                     /gene_synonym="ARCI6; ICHTHYIN; ICHYN; NIPA4; SLC57A6"
                     /inference="alignment:Splign:2.1.0"
     exon            386..442
                     /gene="NIPAL4"
                     /gene_synonym="ARCI6; ICHTHYIN; ICHYN; NIPA4; SLC57A6"
                     /inference="alignment:Splign:2.1.0"
     exon            443..533
                     /gene="NIPAL4"
                     /gene_synonym="ARCI6; ICHTHYIN; ICHYN; NIPA4; SLC57A6"
                     /inference="alignment:Splign:2.1.0"
     exon            534..694
                     /gene="NIPAL4"
                     /gene_synonym="ARCI6; ICHTHYIN; ICHYN; NIPA4; SLC57A6"
                     /inference="alignment:Splign:2.1.0"
     exon            695..3085
                     /gene="NIPAL4"
                     /gene_synonym="ARCI6; ICHTHYIN; ICHYN; NIPA4; SLC57A6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3064..3069
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NIPAL4"
                     /gene_synonym="ARCI6; ICHTHYIN; ICHYN; NIPA4; SLC57A6"
                     /note="hexamer: ATTACA"
     polyA_site      3085
                     /gene="NIPAL4"
                     /gene_synonym="ARCI6; ICHTHYIN; ICHYN; NIPA4; SLC57A6"
                     /note="major polyA site"
ORIGIN      
        1 ggcttctcgc gcgcgagcca cgcgggggac aagtcgcggc cacctgctcc ggagctgggg
       61 agcccgggcg ccgtccgccc gcgcgtcggt tcgtgtgccc cgggccccat ggagctgcgg
      121 gtcagcaaca ccagctgcga gaacggttcc ctgctccacc tctactgctc ctcccaagaa
      181 gtcctgtgcc agattgtcaa tgacctcagc cctgaggtgc ccagcaatgc cacctttcac
      241 agctggcagg aaagaatcag gcagaactat ggcttctaca tcggcctggg cctggcattc
      301 ctgtctagct tcctcatcgg cagcagcgtc atcctcaaga agaaaggcct cttgcgactc
      361 gtggccacgg gagccactcg agctgtggat ggaggcttcg gctacctgaa agatgcaatg
      421 tggtgggctg gatttctcac catggctgct ggagaagttg ccaactttgg agcctacgca
      481 tttgcacctg caacagtcgt cacgcctctg ggagcgctga gtgtcctcat aagtgccatc
      541 ctctcctcat atttcctgag ggagagtctg aacctgctgg ggaagctggg ctgtgtgatc
      601 tgtgtggccg gaagcacagt gatggtgata catgctcctg aggaagagaa ggtcactacc
      661 atcatggaga tggcttccaa gatgaaagac acagggttca tcgtgtttgc tgtgcttctg
      721 ctggtgtcat gcctcatcct catctttgtc attgccccac gttacgggca aaggaatatc
      781 ctcatctaca tcatcatctg ctctgtgatc ggggccttct ctgtggctgc tgtcaagggg
      841 ctgggcatca ccatcaagaa cttcttccag gggctgccag ttgtccggca cccgctcccc
      901 tacatcctgt ccctcatcct ggcactgtcc ctcagcactc aggtcaactt cctcaacaga
      961 gcactggaca ttttcaacac ttccctggtg ttccccatct actacgtgtt cttcaccacg
     1021 gtggtcgtta cctcgtccat catcctcttc aaggagtggt acagcatgtc tgctgtggac
     1081 attgcaggca ccctctcggg ctttgtcacc atcatcttgg gcgtgttcat gctgcatgct
     1141 ttcaaagacc tggacatcag ctgcgccagc ttgccccaca tgcacaaaaa cccaccccct
     1201 tctcccgccc cggaacccac tgttattaga ctggaagaca agaacgtcct tgtggacaat
     1261 atagaacttg ccagcacctc atcaccagaa gagaaaccca aagtatttat aatccattcc
     1321 tgaagcttgg aatatgtgag tgagaggatg agtccgatgg tacagcctgc cctcccaatt
     1381 tcaaaaccac ctggttattt tccagtgcaa ctgttaccaa tgggctctct tttcttgaga
     1441 agttcattta tacctcatca ctgtttccag gagaaaaatc tttacccaaa tagcaatggt
     1501 ggcagaactt cctggaaaca gattcagtga ccaaataccc aagtttacat cagtgcctgc
     1561 aggttccctg gaccttcctt ctcattcatt ctttcggtgc catctctatg ccgttgggaa
     1621 gaagatggag tctgacccac tgaatgtagc acagtccaag gacttctcta agatattggt
     1681 cattggaagt tccttcacac caattctcct cctgagacgg aatctccgtt gttgttgttg
     1741 ttgttgtttt ctagcccaag gatgacatag agctggctcc cagaggccca cagagcaatt
     1801 ggccatgcct ccctatccag agctgacagg gacacaacca gtgtaaaata tcctgttgcc
     1861 tttgtcactt cctctttgga ggcagaagca agacctcagc tgaccttctt actgtgaaag
     1921 ccacttgatg tctcagggaa aaatttcaac cagctcattc cccgagcact ccagcctggc
     1981 agtcagcacc tcggcatcca cccagtccat cccaccatca ccccttcccc ctctacttac
     2041 atcctaagga gtcggtcact gagacataaa ggcagtaatc gcagaactgg aaacaaaaca
     2101 ataatagagc cacagccaaa ctctggtggc caaacccagt gttgcatttt gtcttactct
     2161 gaaagaagaa cagcaaattc actgcttcaa agtggcctgg ctgccaagct agaatttggc
     2221 agaacgcact ttactattcc tcaaggagtc aaccaaccta tgatctgggg aggtgggaag
     2281 aggatgagga gcaaagttgg gatttggcag aaggcagtcc caggctctct ggatactagg
     2341 ggctaacttt tgtgttgact ctggtgctca tctgggaact taggagaaac gagctcaggg
     2401 gtaatttctg ggttgcagcc ttaaaggctt ggacagctgt gaatctcaat ggccaactgg
     2461 aggtgcagac ttggcatggg gtgcattcta gctgttgacc agattgctac cgagtcccct
     2521 cctccactga tgagctgccc acactgggaa gcagcatgcc ctgactgttc caacaccacc
     2581 tgctatgggg agtacctttg gtcccctcac atttggccag aggcatacaa aaaaccagag
     2641 cagctggaga gggagataat tactattcct tcccttccta tctcctttct agccacaaga
     2701 gtgtgggggt tggagaagaa ccattagaaa gggaaattag tgggctggtg tatctggaaa
     2761 gagggaagac ttgatcctca gccccgaggt tggtgcaggg cctcccctgt gtgactctac
     2821 ctgcactctg tgtttatatc ctgtgcccta agtgggccaa gcccaggtaa attcctgctg
     2881 gccttggaac tccaaggttt ggctgaccag cagactggct ccctgactct tcagcctcaa
     2941 atccccagtt tttgatgaat gtggatttct gtctgtaatt aaaagcaatg caacaagttg
     3001 gctcttgaga atggcagtaa actgagggcc ctaagagtgt ggtctgcagg gtcaagaata
     3061 aagattacag attatattta cttga
//
