CNNM1_HUMAN
ID CNNM1_HUMAN Reviewed; 951 AA.
AC Q9NRU3; Q4QQG7; Q4QQH8; Q4QQP9; Q9NT45;
DT 24-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-OCT-2010, sequence version 3.
DT 03-AUG-2022, entry version 157.
DE RecName: Full=Metal transporter CNNM1;
DE AltName: Full=Ancient conserved domain-containing protein 1;
DE AltName: Full=Cyclin-M1;
GN Name=CNNM1; Synonyms=ACDP1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-202.
RC TISSUE=Hippocampus;
RX PubMed=16344560; DOI=10.1101/gr.4039406;
RA Kimura K., Wakamatsu A., Suzuki Y., Ota T., Nishikawa T., Yamashita R.,
RA Yamamoto J., Sekine M., Tsuritani K., Wakaguri H., Ishii S., Sugiyama T.,
RA Saito K., Isono Y., Irie R., Kushida N., Yoneyama T., Otsuka R., Kanda K.,
RA Yokoi T., Kondo H., Wagatsuma M., Murakawa K., Ishida S., Ishibashi T.,
RA Takahashi-Fujii A., Tanase T., Nagai K., Kikuchi H., Nakai K., Isogai T.,
RA Sugano S.;
RT "Diversification of transcriptional modulation: large-scale identification
RT and characterization of putative alternative promoters of human genes.";
RL Genome Res. 16:55-65(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 297-951 (ISOFORM 1), AND TISSUE SPECIFICITY.
RX PubMed=12657465; DOI=10.1016/s0378-1119(02)01210-6;
RA Wang C.-Y., Shi J.-D., Yang P., Kumar P.G., Li Q.-Z., Run Q.-G., Su Y.-C.,
RA Scott H.S., Kao K.-J., She J.-X.;
RT "Molecular cloning and characterization of a novel gene family of four
RT ancient conserved domain proteins (ACDP).";
RL Gene 306:37-44(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 314-951 (ISOFORMS 1 AND 2).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 781-951 (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [6]
RP IDENTIFICATION.
RX PubMed=12707951; DOI=10.1002/ajmg.a.20042;
RA Wang C.-Y., Davoodi-Semiromi A., Shi J.-D., Yang P., Huang Y.-Q.,
RA Agundez J.A.G., Moran J.M., Ochoa B., Hawkins-Lee B., She J.-X.;
RT "High resolution mapping and mutation analyses of candidate genes in the
RT urofacial syndrome (UFS) critical region.";
RL Am. J. Med. Genet. A 119:9-14(2003).
CC -!- FUNCTION: Probable metal transporter. {ECO:0000250}.
CC -!- INTERACTION:
CC Q9NRU3; O75031: HSF2BP; NbExp=6; IntAct=EBI-11986439, EBI-7116203;
CC Q9NRU3; Q93096: PTP4A1; NbExp=6; IntAct=EBI-11986439, EBI-1058467;
CC Q9NRU3; Q12974: PTP4A2; NbExp=5; IntAct=EBI-11986439, EBI-1046324;
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane
CC protein {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9NRU3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NRU3-2; Sequence=VSP_027076;
CC -!- TISSUE SPECIFICITY: Restricted to brain and testis.
CC {ECO:0000269|PubMed:12657465}.
CC -!- MISCELLANEOUS: Shares weak sequence similarity with the cyclin family,
CC hence its name. However, it has no cyclin-like function in vivo.
CC -!- SIMILARITY: Belongs to the ACDP family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAF86357.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAH98103.2; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAH98279.2; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAH98307.2; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=CAB70798.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AL391684; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; DA326933; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AF169226; AAF86357.1; ALT_INIT; mRNA.
DR EMBL; BC098103; AAH98103.2; ALT_INIT; mRNA.
DR EMBL; BC098134; AAH98134.1; -; mRNA.
DR EMBL; BC098279; AAH98279.2; ALT_INIT; mRNA.
DR EMBL; BC098307; AAH98307.2; ALT_INIT; mRNA.
DR EMBL; AL137536; CAB70798.1; ALT_FRAME; mRNA.
DR CCDS; CCDS7478.2; -. [Q9NRU3-1]
DR PIR; T46380; T46380.
DR RefSeq; NP_065081.2; NM_020348.2. [Q9NRU3-1]
DR AlphaFoldDB; Q9NRU3; -.
DR SMR; Q9NRU3; -.
DR BioGRID; 117713; 55.
DR IntAct; Q9NRU3; 26.
DR MINT; Q9NRU3; -.
DR STRING; 9606.ENSP00000349147; -.
DR TCDB; 1.A.112.1.5; the cyclin m mg2+ exporter (cnnm) family.
DR iPTMnet; Q9NRU3; -.
DR PhosphoSitePlus; Q9NRU3; -.
DR BioMuta; CNNM1; -.
DR jPOST; Q9NRU3; -.
DR MassIVE; Q9NRU3; -.
DR MaxQB; Q9NRU3; -.
DR PaxDb; Q9NRU3; -.
DR PeptideAtlas; Q9NRU3; -.
DR PRIDE; Q9NRU3; -.
DR ProteomicsDB; 82424; -. [Q9NRU3-1]
DR ProteomicsDB; 82425; -. [Q9NRU3-2]
DR Antibodypedia; 52446; 56 antibodies from 17 providers.
DR DNASU; 26507; -.
DR Ensembl; ENST00000356713.5; ENSP00000349147.4; ENSG00000119946.11. [Q9NRU3-1]
DR GeneID; 26507; -.
DR KEGG; hsa:26507; -.
DR MANE-Select; ENST00000356713.5; ENSP00000349147.4; NM_020348.3; NP_065081.2.
DR UCSC; uc001kpp.6; human. [Q9NRU3-1]
DR CTD; 26507; -.
DR DisGeNET; 26507; -.
DR GeneCards; CNNM1; -.
DR HGNC; HGNC:102; CNNM1.
DR HPA; ENSG00000119946; Tissue enhanced (brain, testis).
DR MIM; 607802; gene.
DR neXtProt; NX_Q9NRU3; -.
DR OpenTargets; ENSG00000119946; -.
DR PharmGKB; PA26668; -.
DR VEuPathDB; HostDB:ENSG00000119946; -.
DR eggNOG; KOG2118; Eukaryota.
DR GeneTree; ENSGT00940000157525; -.
DR HOGENOM; CLU_011310_1_1_1; -.
DR InParanoid; Q9NRU3; -.
DR OMA; PLSDCFM; -.
DR PhylomeDB; Q9NRU3; -.
DR TreeFam; TF101012; -.
DR PathwayCommons; Q9NRU3; -.
DR SignaLink; Q9NRU3; -.
DR BioGRID-ORCS; 26507; 13 hits in 1068 CRISPR screens.
DR GenomeRNAi; 26507; -.
DR Pharos; Q9NRU3; Tdark.
DR PRO; PR:Q9NRU3; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q9NRU3; protein.
DR Bgee; ENSG00000119946; Expressed in postcentral gyrus and 127 other tissues.
DR Genevisible; Q9NRU3; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IBA:GO_Central.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0022857; F:transmembrane transporter activity; IBA:GO_Central.
DR GO; GO:0006811; P:ion transport; IEA:UniProtKB-KW.
DR GO; GO:0010960; P:magnesium ion homeostasis; IEA:InterPro.
DR CDD; cd04590; CBS_pair_CorC_HlyC_assoc; 1.
DR Gene3D; 3.10.580.10; -; 1.
DR InterPro; IPR045095; ACDP.
DR InterPro; IPR000644; CBS_dom.
DR InterPro; IPR046342; CBS_dom_sf.
DR InterPro; IPR002550; CNNM.
DR InterPro; IPR044751; Ion_transp-like_CBS.
DR PANTHER; PTHR12064; PTHR12064; 1.
DR Pfam; PF00571; CBS; 1.
DR Pfam; PF01595; DUF21; 1.
DR SUPFAM; SSF54631; SSF54631; 1.
DR PROSITE; PS51371; CBS; 2.
DR PROSITE; PS51846; CNNM; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; CBS domain; Cell membrane; Ion transport; Membrane;
KW Phosphoprotein; Reference proteome; Repeat; Transmembrane;
KW Transmembrane helix; Transport.
FT CHAIN 1..951
FT /note="Metal transporter CNNM1"
FT /id="PRO_0000295758"
FT TRANSMEM 23..43
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 222..242
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 282..302
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 321..341
FT /note="Helical"
FT /evidence="ECO:0000255"
FT DOMAIN 218..414
FT /note="CNNM transmembrane"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01193"
FT DOMAIN 433..495
FT /note="CBS 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00703"
FT DOMAIN 502..568
FT /note="CBS 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00703"
FT REGION 116..135
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 731..753
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 795..830
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 920..951
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 821
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q0GA42"
FT MOD_RES 824
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q0GA42"
FT MOD_RES 850
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q0GA42"
FT VAR_SEQ 842..892
FT /note="CSRSDGLRSPSEVVYLRMEELAFTQEEMTDFEEHSTQQLTLSPAAVPTRAA
FT -> S (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_027076"
FT VARIANT 819
FT /note="R -> Q (in dbSNP:rs2298316)"
FT /id="VAR_057737"
FT CONFLICT 444
FT /note="S -> P (in Ref. 4; AAH98307)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 951 AA; 104351 MW; FFC97FB34187268A CRC64;
MAAAAAAAAA VGVRLRDCCS RGAVLLLFFS LSPRPPAAAA WLLGLRPEDT AGGRVSLEGG
TLRAAEGTSF LLRVYFQPGP PATAAPVPSP TLNSGENGTG DWAPRLVFIE EPPGGGGVAP
SAVPTRPPGP QRCREQSDWA SDVEVLGPLR PGGVAGSALV QVRVRELRKG EAERGGAGGG
GKLFSLCAWD GRAWHHHGAA GGFLLRVRPR LYGPGGDLLP PAWLRALGAL LLLALSALFS
GLRLSLLSLD PVELRVLRNS GSAAEQEQAR RVQAVRGRGT HLLCTLLLGQ AGANAALAGW
LYTSLPPGFG GTGEDYSEEG IHFPWLPALV CTGAVFLGAE ICPYSVCSRH GLAIASHSVC
LTRLLMAAAF PVCYPLGRLL DWALRQEIST FYTREKLLET LRAADPYSDL VKEELNIIQG
ALELRTKVVE EVLTPLGDCF MLRSDAVLDF ATVSEILRSG YTRIPVYEGD QRHNIVDILF
VKDLAFVDPD DCTPLLTVTR FYNRPLHCVF NDTRLDTVLE EFKKGKSHLA IVQRVNNEGE
GDPFYEVMGI VTLEDIIEEI IKSEILDETD LYTDNRKKQR VPQRERKRHD FSLFKLSDTE
MRVKISPQLL LATHRFMATE VEPFKSLYLS EKILLRLLKH PNVIQELKFD EKNKKAPEHY
LYQRNRPVDY FVLLLQGKVE VEVGKEGLRF ENGAFTYYGV PAIMTTACSD NDVRKVGSLA
GSSVFLNRSP SRCSGLNRSE SPNRERSDFG GSNTQLYSSS NNLYMPDYSV HILSDVQFVK
ITRQQYQNAL TACHMDSSPQ SPDMEAFTDG DSTKAPTTRG TPQTPKDDPA ITLLNNRNSL
PCSRSDGLRS PSEVVYLRME ELAFTQEEMT DFEEHSTQQL TLSPAAVPTR AASDSECCNI
NLDTETSPCS SDFEENVGKK LLRTLSGQKR KRSPEGERTS EDNSNLTPLI T
