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Protein

Metal transporter CNNM1

Gene

CNNM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Probable metal transporter.By similarity

Miscellaneous

Shares weak sequence similarity with the cyclin family, hence its name. However, it has no cyclin-like function in vivo.

GO - Biological processi

Keywordsi

Biological processIon transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Metal transporter CNNM1
Alternative name(s):
Ancient conserved domain-containing protein 1
Cyclin-M1
Gene namesi
Name:CNNM1
Synonyms:ACDP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000119946.10.
HGNCiHGNC:102. CNNM1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei23 – 43HelicalSequence analysisAdd BLAST21
Transmembranei222 – 242HelicalSequence analysisAdd BLAST21
Transmembranei282 – 302HelicalSequence analysisAdd BLAST21
Transmembranei321 – 341HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi26507.
OpenTargetsiENSG00000119946.
PharmGKBiPA26668.

Polymorphism and mutation databases

BioMutaiCNNM1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002957581 – 951Metal transporter CNNM1Add BLAST951

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei821PhosphothreonineBy similarity1
Modified residuei824PhosphothreonineBy similarity1
Modified residuei850PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9NRU3.
PaxDbiQ9NRU3.
PeptideAtlasiQ9NRU3.
PRIDEiQ9NRU3.

PTM databases

iPTMnetiQ9NRU3.
PhosphoSitePlusiQ9NRU3.

Expressioni

Tissue specificityi

Restricted to brain and testis.1 Publication

Gene expression databases

BgeeiENSG00000119946.
CleanExiHS_CNNM1.
GenevisibleiQ9NRU3. HS.

Organism-specific databases

HPAiHPA040408.

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi117713. 31 interactors.
IntActiQ9NRU3. 3 interactors.
STRINGi9606.ENSP00000349147.

Structurei

3D structure databases

ProteinModelPortaliQ9NRU3.
SMRiQ9NRU3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini226 – 405DUF21Add BLAST180
Domaini433 – 495CBS 1PROSITE-ProRule annotationAdd BLAST63
Domaini502 – 568CBS 2PROSITE-ProRule annotationAdd BLAST67

Sequence similaritiesi

Belongs to the ACDP family.Curated

Keywords - Domaini

CBS domain, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2118. Eukaryota.
COG1253. LUCA.
GeneTreeiENSGT00390000002383.
HOGENOMiHOG000231947.
HOVERGENiHBG074775.
InParanoidiQ9NRU3.
KOiK16302.
OMAiVYFQPGP.
OrthoDBiEOG091G02YS.
PhylomeDBiQ9NRU3.
TreeFamiTF101012.

Family and domain databases

Gene3Di2.60.120.10. 1 hit.
InterProiView protein in InterPro
IPR000644. CBS_dom.
IPR002550. DUF21.
IPR014710. RmlC-like_jellyroll.
PfamiView protein in Pfam
PF00571. CBS. 1 hit.
PF01595. DUF21. 1 hit.
PROSITEiView protein in PROSITE
PS51371. CBS. 2 hits.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NRU3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAAAAAAAAA VGVRLRDCCS RGAVLLLFFS LSPRPPAAAA WLLGLRPEDT
60 70 80 90 100
AGGRVSLEGG TLRAAEGTSF LLRVYFQPGP PATAAPVPSP TLNSGENGTG
110 120 130 140 150
DWAPRLVFIE EPPGGGGVAP SAVPTRPPGP QRCREQSDWA SDVEVLGPLR
160 170 180 190 200
PGGVAGSALV QVRVRELRKG EAERGGAGGG GKLFSLCAWD GRAWHHHGAA
210 220 230 240 250
GGFLLRVRPR LYGPGGDLLP PAWLRALGAL LLLALSALFS GLRLSLLSLD
260 270 280 290 300
PVELRVLRNS GSAAEQEQAR RVQAVRGRGT HLLCTLLLGQ AGANAALAGW
310 320 330 340 350
LYTSLPPGFG GTGEDYSEEG IHFPWLPALV CTGAVFLGAE ICPYSVCSRH
360 370 380 390 400
GLAIASHSVC LTRLLMAAAF PVCYPLGRLL DWALRQEIST FYTREKLLET
410 420 430 440 450
LRAADPYSDL VKEELNIIQG ALELRTKVVE EVLTPLGDCF MLRSDAVLDF
460 470 480 490 500
ATVSEILRSG YTRIPVYEGD QRHNIVDILF VKDLAFVDPD DCTPLLTVTR
510 520 530 540 550
FYNRPLHCVF NDTRLDTVLE EFKKGKSHLA IVQRVNNEGE GDPFYEVMGI
560 570 580 590 600
VTLEDIIEEI IKSEILDETD LYTDNRKKQR VPQRERKRHD FSLFKLSDTE
610 620 630 640 650
MRVKISPQLL LATHRFMATE VEPFKSLYLS EKILLRLLKH PNVIQELKFD
660 670 680 690 700
EKNKKAPEHY LYQRNRPVDY FVLLLQGKVE VEVGKEGLRF ENGAFTYYGV
710 720 730 740 750
PAIMTTACSD NDVRKVGSLA GSSVFLNRSP SRCSGLNRSE SPNRERSDFG
760 770 780 790 800
GSNTQLYSSS NNLYMPDYSV HILSDVQFVK ITRQQYQNAL TACHMDSSPQ
810 820 830 840 850
SPDMEAFTDG DSTKAPTTRG TPQTPKDDPA ITLLNNRNSL PCSRSDGLRS
860 870 880 890 900
PSEVVYLRME ELAFTQEEMT DFEEHSTQQL TLSPAAVPTR AASDSECCNI
910 920 930 940 950
NLDTETSPCS SDFEENVGKK LLRTLSGQKR KRSPEGERTS EDNSNLTPLI

T
Length:951
Mass (Da):104,351
Last modified:October 5, 2010 - v3
Checksum:iFFC97FB34187268A
GO
Isoform 2 (identifier: Q9NRU3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     842-892: CSRSDGLRSPSEVVYLRMEELAFTQEEMTDFEEHSTQQLTLSPAAVPTRAA → S

Note: No experimental confirmation available.
Show »
Length:901
Mass (Da):98,739
Checksum:i36ADDBA970E4A494
GO

Sequence cautioni

The sequence AAF86357 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAH98103 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAH98279 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAH98307 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAB70798 differs from that shown. Reason: Frameshift at positions 839 and 874.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti444S → P in AAH98307 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_057737819R → Q. Corresponds to variant dbSNP:rs2298316Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_027076842 – 892CSRSD…PTRAA → S in isoform 2. 1 PublicationAdd BLAST51

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL391684 Genomic DNA. Translation: CAH73858.2.
DA326933 mRNA. No translation available.
AF169226 mRNA. Translation: AAF86357.1. Different initiation.
BC098103 mRNA. Translation: AAH98103.2. Different initiation.
BC098134 mRNA. Translation: AAH98134.1.
BC098279 mRNA. Translation: AAH98279.2. Different initiation.
BC098307 mRNA. Translation: AAH98307.2. Different initiation.
AL137536 mRNA. Translation: CAB70798.1. Frameshift.
CCDSiCCDS7478.2. [Q9NRU3-1]
PIRiT46380.
RefSeqiNP_065081.2. NM_020348.2. [Q9NRU3-1]
UniGeneiHs.274579.

Genome annotation databases

EnsembliENST00000356713; ENSP00000349147; ENSG00000119946. [Q9NRU3-1]
GeneIDi26507.
KEGGihsa:26507.
UCSCiuc001kpp.6. human. [Q9NRU3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCNNM1_HUMAN
AccessioniPrimary (citable) accession number: Q9NRU3
Secondary accession number(s): Q4QQG7
, Q4QQH8, Q4QQP9, Q9NT45
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: October 5, 2010
Last modified: October 25, 2017
This is version 126 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families