LOCUS       NM_020665               1352 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens collectrin, amino acid transport regulator (CLTRN),
            mRNA.
ACCESSION   NM_020665
VERSION     NM_020665.6
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 1352)
  AUTHORS   Chu,P.L., Gigliotti,J.C., Cechova,S., Bodonyi-Kovacs,G., Wang,Y.T.,
            Chen,L., Wassertheil-Smoller,S., Cai,J., Isakson,B.E.,
            Franceschini,N. and Le,T.H.
  TITLE     Collectrin (Tmem27) deficiency in proximal tubules causes
            hypertension in mice and a TMEM27 variant associates with blood
            pressure in males in a Latino cohort
  JOURNAL   Am J Physiol Renal Physiol 324 (1), F30-F42 (2023)
   PUBMED   36264884
  REMARK    GeneRIF: Collectrin (Tmem27) deficiency in proximal tubules causes
            hypertension in mice and a TMEM27 variant associates with blood
            pressure in males in a Latino cohort.
REFERENCE   2  (bases 1 to 1352)
  AUTHORS   Grewal,R., Choung,H.Y.G., Roberts,L.L., Beane,T., Chen,L.,
            Gilroy,D.X., Rappold,P.M. and Le,T.H.
  TITLE     TMEM27 expression and clinical characteristics and survival in
            clear cell renal cell carcinoma
  JOURNAL   Acta Oncol 61 (12), 1507-1511 (2022)
   PUBMED   36369873
  REMARK    GeneRIF: TMEM27 expression and clinical characteristics and
            survival in clear cell renal cell carcinoma.
REFERENCE   3  (bases 1 to 1352)
  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   4  (bases 1 to 1352)
  AUTHORS   Aslan Cetin,B., Aydogan Mathyk,B., Cift,T., Tuten,A., Bulut,B.,
            Yilmaz,N., Erenel,H., Ekmekci,H. and Gezer,A.
  TITLE     Serum collectrin levels in patients with early- and late-onset
            preeclampsia
  JOURNAL   J Matern Fetal Neonatal Med 31 (21), 2827-2831 (2018)
   PUBMED   28764560
  REMARK    GeneRIF: Maternal serum collectrin levels are significantly lower
            in patients with preeclampsia than in the control group. There is
            an inverse correlation between serum collectrin levels and blood
            pressure.
REFERENCE   5  (bases 1 to 1352)
  AUTHORS   Javorhazy,A., Farkas,N., Beothe,T., Pusztai,C., Szanto,A. and
            Kovacs,G.
  TITLE     Lack of TMEM27 expression is associated with postoperative
            progression of clinically localized conventional renal cell
            carcinoma
  JOURNAL   J Cancer Res Clin Oncol 142 (9), 1947-1953 (2016)
   PUBMED   27417314
  REMARK    GeneRIF: Lack of expression of the TMEM27 in conventional renal
            cell carcinoma defines a group of patients at high risk for
            cancer-related death.
REFERENCE   6  (bases 1 to 1352)
  AUTHORS   Gonzales,P.A., Pisitkun,T., Hoffert,J.D., Tchapyjnikov,D.,
            Star,R.A., Kleta,R., Wang,N.S. and Knepper,M.A.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   7  (bases 1 to 1352)
  AUTHORS   Kowalczuk,S., Broer,A., Tietze,N., Vanslambrouck,J.M., Rasko,J.E.
            and Broer,S.
  TITLE     A protein complex in the brush-border membrane explains a Hartnup
            disorder allele
  JOURNAL   FASEB J 22 (8), 2880-2887 (2008)
   PUBMED   18424768
REFERENCE   8  (bases 1 to 1352)
  AUTHORS   Mount,D.B.
  TITLE     Collectrin and the kidney
  JOURNAL   Curr Opin Nephrol Hypertens 16 (5), 427-429 (2007)
   PUBMED   17693757
  REMARK    GeneRIF: Collectrin has a role in amino acid transpor in the kidney
            [review]
            Review article
REFERENCE   9  (bases 1 to 1352)
  AUTHORS   Fukui,K., Yang,Q., Cao,Y., Takahashi,N., Hatakeyama,H., Wang,H.,
            Wada,J., Zhang,Y., Marselli,L., Nammo,T., Yoneda,K., Onishi,M.,
            Higashiyama,S., Matsuzawa,Y., Gonzalez,F.J., Weir,G.C., Kasai,H.,
            Shimomura,I., Miyagawa,J., Wollheim,C.B. and Yamagata,K.
  TITLE     The HNF-1 target collectrin controls insulin exocytosis by SNARE
            complex formation
  JOURNAL   Cell Metab 2 (6), 373-384 (2005)
   PUBMED   16330323
REFERENCE   10 (bases 1 to 1352)
  AUTHORS   Zhang,H., Wada,J., Hida,K., Tsuchiyama,Y., Hiragushi,K.,
            Shikata,K., Wang,H., Lin,S., Kanwar,Y.S. and Makino,H.
  TITLE     Collectrin, a collecting duct-specific transmembrane glycoprotein,
            is a novel homolog of ACE2 and is developmentally regulated in
            embryonic kidneys
  JOURNAL   J Biol Chem 276 (20), 17132-17139 (2001)
   PUBMED   11278314
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC014317.1 and AI470468.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_020665.5.
            
            Summary: This gene encodes a type 1 transmembrane protein that is
            important for trafficking amino acid transporters to the apical
            brush border of proximal tubules. The encoded protein binds to
            amino acid transporters and regulates their expression on the
            plasma membrane. It also plays a role in controlling insulin
            exocytosis by regulating formation of the SNARE (soluble
            N-ethylmaleimide-sensitive-factor attachment protein receptor)
            complex in pancreatic beta cells. The extracellular domain of the
            encoded protein may be cleaved and shed from the plasma membrane
            specifically in pancreatic beta cells. [provided by RefSeq, Jun
            2013].
            
            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 :: BC015099.1, SRR5189664.78391.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2159080 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380342.4/ ENSP00000369699.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1342              BC014317.1         231-1572
            1343-1352           AI470468.1         3-12                c
FEATURES             Location/Qualifiers
     source          1..1352
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.2"
     gene            1..1352
                     /gene="CLTRN"
                     /gene_synonym="NX-17; NX17; TMEM27"
                     /note="collectrin, amino acid transport regulator"
                     /db_xref="GeneID:57393"
                     /db_xref="HGNC:HGNC:29437"
                     /db_xref="MIM:300631"
     exon            1..88
                     /gene="CLTRN"
                     /gene_synonym="NX-17; NX17; TMEM27"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..699
                     /gene="CLTRN"
                     /gene_synonym="NX-17; NX17; TMEM27"
                     /note="collectrin; kidney-specific membrane protein;
                     transmembrane protein 27"
                     /codon_start=1
                     /product="collectrin precursor"
                     /protein_id="NP_065716.1"
                     /db_xref="CCDS:CCDS14170.1"
                     /db_xref="GeneID:57393"
                     /db_xref="HGNC:HGNC:29437"
                     /db_xref="MIM:300631"
                     /translation="MLWLLFFLVTAIHAELCQPGAENAFKVRLSIRTALGDKAYAWDT
                     NEEYLFKAMVAFSMRKVPNREATEISHVLLCNVTQRVSFWFVVTDPSKNHTLPAVEVQ
                     SAIRMNKNRINNAFFLNDQTLEFLKIPSTLAPPMDPSVPIWIIIFGVIFCIIIVAIAL
                     LILSGIWQRRRKNKEPSEVDDAEDKCENMITIENGIPSDPLDMKGGHINDAFMTEDER
                     LTPL"
     exon            89..147
                     /gene="CLTRN"
                     /gene_synonym="NX-17; NX17; TMEM27"
                     /inference="alignment:Splign:2.1.0"
     exon            148..233
                     /gene="CLTRN"
                     /gene_synonym="NX-17; NX17; TMEM27"
                     /inference="alignment:Splign:2.1.0"
     exon            234..347
                     /gene="CLTRN"
                     /gene_synonym="NX-17; NX17; TMEM27"
                     /inference="alignment:Splign:2.1.0"
     exon            348..542
                     /gene="CLTRN"
                     /gene_synonym="NX-17; NX17; TMEM27"
                     /inference="alignment:Splign:2.1.0"
     exon            543..1352
                     /gene="CLTRN"
                     /gene_synonym="NX-17; NX17; TMEM27"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1321..1326
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLTRN"
                     /gene_synonym="NX-17; NX17; TMEM27"
                     /note="hexamer: AATAAA"
     polyA_site      1352
                     /gene="CLTRN"
                     /gene_synonym="NX-17; NX17; TMEM27"
                     /note="major polyA site"
ORIGIN      
        1 actttgcctt gtgttttcca ccctgaaaga atgttgtggc tgctcttttt tctggtgact
       61 gccattcatg ctgaactctg tcaaccaggt gcagaaaatg cttttaaagt gagacttagt
      121 atcagaacag ctctgggaga taaagcatat gcctgggata ccaatgaaga atacctcttc
      181 aaagcgatgg tagctttctc catgagaaaa gttcccaaca gagaagcaac agaaatttcc
      241 catgtcctac tttgcaatgt aacccagagg gtatcattct ggtttgtggt tacagaccct
      301 tcaaaaaatc acacccttcc tgctgttgag gtgcaatcag ccataagaat gaacaagaac
      361 cggatcaaca atgccttctt tctaaatgac caaactctgg aatttttaaa aatcccttcc
      421 acacttgcac cacccatgga cccatctgtg cccatctgga ttattatatt tggtgtgata
      481 ttttgcatca tcatagttgc aattgcacta ctgattttat cagggatctg gcaacgtaga
      541 agaaagaaca aagaaccatc tgaagtggat gacgctgaag ataagtgtga aaacatgatc
      601 acaattgaaa atggcatccc ctctgatccc ctggacatga agggagggca tattaatgat
      661 gccttcatga cagaggatga gaggctcacc cctctctgaa gggctgttgt tctgcttcct
      721 caagaaatta aacatttgtt tctgtgtgac tgctgagcat cctgaaatac caagagcaga
      781 tcatatattt tgtttcacca ttcttctttt gtaataaatt ttgaatgtgc ttgaaagtga
      841 aaagcaatca attataccca ccaacaccac tgaaatcata agctattcac gactcaaaat
      901 attctaaaat atttttctga cagtatagtg tataaatgtg gtcatgtggt atttgtagtt
      961 attgatttaa gcatttttag aaataagatc aggcatatgt atatattttc acacttcaaa
     1021 gacctaagga aaaataaatt ttccagtgga gaatacatat aatatggtgt agaaatcatt
     1081 gaaaatggat cctttttgac gatcacttat atcactctgt atatgactaa gtaaacaaaa
     1141 gtgagaagta attattgtaa atggatggat aaaaatggaa ttactcatat acagggtgga
     1201 attttatcct gttatcacac caacagttga ttatatattt tctgaatatc agcccctaat
     1261 aggacaattc tatttgttga ccatttctac aatttgtaaa agtccaatct gtgctaactt
     1321 aataaagtaa taatcatctc tttttgattg tg
//
