LOCUS       NP_064569                775 aa            linear   PRI 09-FEB-2025
DEFINITION  metal transporter CNNM4 precursor [Homo sapiens].
ACCESSION   NP_064569
VERSION     NP_064569.3
DBSOURCE    REFSEQ: accession NM_020184.4
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  (residues 1 to 775)
  AUTHORS   Shahsavan,A., Lee,E.L., Illes,K., Kozlov,G. and Gehring,K.
  TITLE     Dimerization of the CNNM extracellular domain
  JOURNAL   Protein Sci 33 (2), e4860 (2024)
   PUBMED   38149326
  REMARK    GeneRIF: Dimerization of the CNNM extracellular domain.
REFERENCE   2  (residues 1 to 775)
  AUTHORS   Rattanapornsompong,K., Gavila,P., Tungsanga,S., Chanakul,A.,
            Apivatthakakul,A., Tengsujaritkul,M., Tongsong,T., Theerapanon,T.,
            Porntaveetus,T. and Shotelersuk,V.
  TITLE     Novel CNNM4 variant and clinical features of Jalili syndrome
  JOURNAL   Clin Genet 103 (2), 256-257 (2023)
   PUBMED   36354001
  REMARK    GeneRIF: Novel CNNM4 variant and clinical features of Jalili
            syndrome.
REFERENCE   3  (residues 1 to 775)
  AUTHORS   Bai,Z., Feng,J., Franken,G.A.C., Al'Saadi,N., Cai,N., Yu,A.S.,
            Lou,L., Komiya,Y., Hoenderop,J.G.J., de Baaij,J.H.F., Yue,L. and
            Runnels,L.W.
  TITLE     CNNM proteins selectively bind to the TRPM7 channel to stimulate
            divalent cation entry into cells
  JOURNAL   PLoS Biol 19 (12), e3001496 (2021)
   PUBMED   34928937
  REMARK    GeneRIF: CNNM proteins selectively bind to the TRPM7 channel to
            stimulate divalent cation entry into cells.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 775)
  AUTHORS   Prasov,L., Ullah,E., Turriff,A.E., Warner,B.M., Conley,J.,
            Mark,P.R., Hufnagel,R.B. and Huryn,L.A.
  TITLE     Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4
            variants and uniparental isodisomy in a north American patient
            cohort
  JOURNAL   Am J Med Genet A 182 (3), 493-497 (2020)
   PUBMED   32022389
  REMARK    GeneRIF: Expanding the genotypic spectrum of Jalili syndrome: Novel
            CNNM4 variants and uniparental isodisomy in a north American
            patient cohort.
REFERENCE   5  (residues 1 to 775)
  AUTHORS   Parveen,A., Mirza,M.U., Vanmeert,M., Akhtar,J., Bashir,H., Khan,S.,
            Shehzad,S., Froeyen,M., Ahmed,W., Ansar,M. and Wasif,N.
  TITLE     A novel pathogenic missense variant in CNNM4 underlying Jalili
            syndrome: Insights from molecular dynamics simulations
  JOURNAL   Mol Genet Genomic Med 7 (9), e902 (2019)
   PUBMED   31347285
  REMARK    GeneRIF: The novel identified variant in CNNM4 is the first report
            from the Pakistani population. Sequence analysis of CNNM4 revealed
            a novel missense variant (c.1220G>T, p.Arg407Leu) in exon-1
            encoding cystathionine-beta-synthase (CBS) domain.
REFERENCE   6  (residues 1 to 775)
  AUTHORS   Guo,D., Ling,J., Wang,M.H., She,J.X., Gu,J. and Wang,C.Y.
  TITLE     Physical interaction and functional coupling between ACDP4 and the
            intracellular ion chaperone COX11, an implication of the role of
            ACDP4 in essential metal ion transport and homeostasis
  JOURNAL   Mol Pain 1, 15 (2005)
   PUBMED   15840172
  REMARK    Publication Status: Online-Only
REFERENCE   7  (residues 1 to 775)
  AUTHORS   Michaelides,M., Bloch-Zupan,A., Holder,G.E., Hunt,D.M. and
            Moore,A.T.
  TITLE     An autosomal recessive cone-rod dystrophy associated with
            amelogenesis imperfecta
  JOURNAL   J Med Genet 41 (6), 468-473 (2004)
   PUBMED   15173235
REFERENCE   8  (residues 1 to 775)
  AUTHORS   Wang,C.Y., Shi,J.D., Yang,P., Kumar,P.G., Li,Q.Z., Run,Q.G.,
            Su,Y.C., Scott,H.S., Kao,K.J. and She,J.X.
  TITLE     Molecular cloning and characterization of a novel gene family of
            four ancient conserved domain proteins (ACDP)
  JOURNAL   Gene 306, 37-44 (2003)
   PUBMED   12657465
REFERENCE   9  (residues 1 to 775)
  AUTHORS   Downey,L.M., Keen,T.J., Jalili,I.K., McHale,J., Aldred,M.J.,
            Robertson,S.P., Mighell,A., Fayle,S., Wissinger,B. and
            Inglehearn,C.F.
  TITLE     Identification of a locus on chromosome 2q11 at which recessive
            amelogenesis imperfecta and cone-rod dystrophy cosegregate
  JOURNAL   Eur J Hum Genet 10 (12), 865-869 (2002)
   PUBMED   12461695
REFERENCE   10 (residues 1 to 775)
  AUTHORS   Jalili,I.K. and Smith,N.J.
  TITLE     A progressive cone-rod dystrophy and amelogenesis imperfecta: a new
            syndrome
  JOURNAL   J Med Genet 25 (11), 738-740 (1988)
   PUBMED   3236352
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC063295.1 and AB046812.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 5, 2006 this sequence version replaced NP_064569.2.
            
            Summary: This gene encodes a member of the ancient conserved domain
            containing protein family. Members of this protein family contain a
            cyclin box motif and have structural similarity to the cyclins. The
            encoded protein may play a role in metal ion transport. Mutations
            in this gene are associated with Jalili syndrome which consists of
            cone-rod dystrophy and amelogenesis imperfecta. [provided by
            RefSeq, Feb 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 :: BC063295.1, AB046812.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000377075.3/ ENSP00000366275.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..775
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     Protein         1..775
                     /product="metal transporter CNNM4 precursor"
                     /note="ancient conserved domain protein 4; metal
                     transporter CNNM4; cyclin-M4; ancient conserved
                     domain-containing protein 4"
                     /calculated_mol_wt=83035
     sig_peptide     1..37
                     /inference="COORDINATES: ab initio prediction:SignalP:6.0"
                     /calculated_mol_wt=3590
     Site            85
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q6P4Q7.3)"
     Site            122
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q6P4Q7.3)"
     Site            179..199
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P4Q7.3)"
     Region          196..>513
                     /region_name="TlyC"
                     /note="Hemolysin-related protein, contains CBS domains,
                     UPF0053 family [General function prediction only];
                     COG1253"
                     /db_xref="CDD:440865"
     Site            265..285
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P4Q7.3)"
     Site            294..316
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q6P4Q7.3)"
     Site            660
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6P4Q7.3)"
     Site            664
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q6P4Q7.3)"
     Site            770
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q69ZF7; propagated from
                     UniProtKB/Swiss-Prot (Q6P4Q7.3)"
     CDS             1..775
                     /gene="CNNM4"
                     /gene_synonym="ACDP4; SLC70A4"
                     /coded_by="NM_020184.4:99..2426"
                     /db_xref="CCDS:CCDS2024.2"
                     /db_xref="GeneID:26504"
                     /db_xref="HGNC:HGNC:105"
                     /db_xref="MIM:607805"
ORIGIN      
        1 mapvggggrp vggpargrll laapvllvll walgargqgs pqqgtivgmr lascnkscgt
       61 npdgiifvse gstvnlrlyg yslgnissnl isftevddae tlhkstscle ltkdlvvqql
      121 vnvsrgntsg vlvvltkflr rsesmklyal ctraqpdgpw lkwtdkdsll fmveepgrfl
      181 plwlhillit vllvlsgifs glnlglmald pmelrivqnc gtekerryar kiepirrkgn
      241 yllcslllgn vlvntsltil ldnligsglm avasstigiv ifgeilpqal csrhglavga
      301 ntilltkffm lltfplsfpi sklldfflgq eirtvynrek lmemlkvtep yndlvkeeln
      361 miqgalelrt ktvedimtql qdcfmirsda ildfntmsei mesgytripv fedeqsnivd
      421 ilyvkdlafv dpddctplkt itrfynhpvh fvfhdtklda mleefkkgks hlaivqkvnn
      481 egegdpfyev lglvtledvi eeiikseild esdmytdnrs rkrvseknkr dfsafkdadn
      541 elkvkispql llaahrflat evsqfspsli sekillrllk ypdviqelkf dehnkyyarh
      601 ylytrnkpad yfililqgkv eveagkenmk fetgafsyyg tmaltsvpsd rspahptpls
      661 rsaslsypdr tdvstaatla gssnqfgssv lgqyisdfsv ralvdlqyik itrqqyqngl
      721 lasrmenspq fpidgctthm enlaekselp vvdetttlln ernsllhkas henai
//
