UniProtKB - Q6P4Q7 (CNNM4_HUMAN)
Protein
Metal transporter CNNM4
Gene
CNNM4
Organism
Homo sapiens (Human)
Status
Functioni
Probable metal transporter. The interaction with the metal ion chaperone COX11 suggests that it may play a role in sensory neuron functions (By similarity). May play a role in biomineralization and retinal function.By similarity2 Publications
Miscellaneous
Shares weak sequence similarity with the cyclin family, explaining its name. However, it has no cyclin-like function in vivo.
GO - Molecular functioni
- magnesium ion transmembrane transporter activity Source: GO_Central
- sodium ion transmembrane transporter activity Source: GO_Central
- transmembrane transporter activity Source: GO_Central
GO - Biological processi
- enamel mineralization Source: Ensembl
- magnesium ion homeostasis Source: GO_Central
- magnesium ion transport Source: GO_Central
- metal ion homeostasis Source: UniProtKB
- response to stimulus Source: UniProtKB-KW
- visual perception Source: UniProtKB-KW
Keywordsi
Biological process | Biomineralization, Ion transport, Sensory transduction, Transport, Vision |
Enzyme and pathway databases
PathwayCommonsi | Q6P4Q7 |
Protein family/group databases
TCDBi | 1.A.112.1.4, the cyclin m mg2+ exporter (cnnm) family |
Names & Taxonomyi
Protein namesi | Recommended name: Metal transporter CNNM4Alternative name(s): Ancient conserved domain-containing protein 4 Cyclin-M4 |
Gene namesi | Name:CNNM4 Synonyms:ACDP4, KIAA1592 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000158158.11 |
HGNCi | HGNC:105, CNNM4 |
MIMi | 607805, gene |
neXtProti | NX_Q6P4Q7 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication
Plasma Membrane
- basolateral plasma membrane Source: Ensembl
- plasma membrane Source: GO_Central
Other locations
- dendrite Source: Ensembl
- integral component of membrane Source: UniProtKB-KW
- intracellular membrane-bounded organelle Source: GO_Central
- neuronal cell body Source: Ensembl
- protein-containing complex Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 178 | ExtracellularSequence analysisAdd BLAST | 178 | |
Transmembranei | 179 – 199 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 200 – 240 | CytoplasmicSequence analysisAdd BLAST | 41 | |
Intramembranei | 241 – 261 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 262 – 264 | CytoplasmicSequence analysis | 3 | |
Transmembranei | 265 – 285 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 286 – 293 | ExtracellularSequence analysis | 8 | |
Transmembranei | 294 – 316 | HelicalSequence analysisAdd BLAST | 23 | |
Topological domaini | 317 – 775 | CytoplasmicSequence analysisAdd BLAST | 459 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Jalili syndrome (JALIS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by the association of cone-rod dystrophy and amelogenesis imperfecta.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_058319 | 196 | S → P in JALIS. 1 Publication | 1 | |
Natural variantiVAR_058320 | 200 | S → Y in JALIS. 1 PublicationCorresponds to variant dbSNP:rs79424354EnsemblClinVar. | 1 | |
Natural variantiVAR_058321 | 236 | R → Q in JALIS. 1 PublicationCorresponds to variant dbSNP:rs75267011EnsemblClinVar. | 1 | |
Natural variantiVAR_058322 | 324 | L → P in JALIS. 2 PublicationsCorresponds to variant dbSNP:rs74552543EnsemblClinVar. | 1 |
Keywords - Diseasei
Amelogenesis imperfecta, Cone-rod dystrophy, Disease mutationOrganism-specific databases
DisGeNETi | 26504 |
MalaCardsi | CNNM4 |
MIMi | 217080, phenotype |
OpenTargetsi | ENSG00000158158 |
Orphaneti | 1873, Jalili syndrome |
PharmGKBi | PA26671 |
Miscellaneous databases
Pharosi | Q6P4Q7, Tbio |
Polymorphism and mutation databases
BioMutai | CNNM4 |
DMDMi | 224471892 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000295765 | 1 – 775 | Metal transporter CNNM4Add BLAST | 775 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 85 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 122 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 660 | PhosphoserineCombined sources | 1 | |
Modified residuei | 664 | PhosphoserineCombined sources | 1 | |
Modified residuei | 770 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
Glycoprotein, PhosphoproteinProteomic databases
EPDi | Q6P4Q7 |
jPOSTi | Q6P4Q7 |
MassIVEi | Q6P4Q7 |
MaxQBi | Q6P4Q7 |
PaxDbi | Q6P4Q7 |
PeptideAtlasi | Q6P4Q7 |
PRIDEi | Q6P4Q7 |
ProteomicsDBi | 6371 66982 [Q6P4Q7-1] |
PTM databases
GlyConnecti | 1504, 6 N-Linked glycans (2 sites) |
GlyGeni | Q6P4Q7, 4 sites |
iPTMneti | Q6P4Q7 |
PhosphoSitePlusi | Q6P4Q7 |
Expressioni
Tissue specificityi
Widely expressed. Highly expressed in heart.1 Publication
Gene expression databases
Bgeei | ENSG00000158158, Expressed in muscle of leg and 168 other tissues |
Genevisiblei | Q6P4Q7, HS |
Organism-specific databases
HPAi | ENSG00000158158, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with COX11.
1 PublicationProtein-protein interaction databases
BioGRIDi | 117711, 18 interactors |
IntActi | Q6P4Q7, 11 interactors |
STRINGi | 9606.ENSP00000366275 |
Miscellaneous databases
RNActi | Q6P4Q7, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 178 – 358 | CNNM transmembranePROSITE-ProRule annotationAdd BLAST | 181 | |
Domaini | 377 – 438 | CBS 1PROSITE-ProRule annotationAdd BLAST | 62 | |
Domaini | 445 – 511 | CBS 2PROSITE-ProRule annotationAdd BLAST | 67 |
Sequence similaritiesi
Belongs to the ACDP family.Curated
Keywords - Domaini
CBS domain, Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2118, Eukaryota |
GeneTreei | ENSGT00940000156317 |
HOGENOMi | CLU_011310_1_1_1 |
InParanoidi | Q6P4Q7 |
OMAi | FMIRNDA |
OrthoDBi | 1446644at2759 |
PhylomeDBi | Q6P4Q7 |
TreeFami | TF101012 |
Family and domain databases
InterProi | View protein in InterPro IPR000644, CBS_dom IPR018490, cNMP-bd-like IPR000595, cNMP-bd_dom IPR002550, CNNM |
Pfami | View protein in Pfam PF00571, CBS, 1 hit PF01595, DUF21, 1 hit |
SUPFAMi | SSF51206, SSF51206, 1 hit |
PROSITEi | View protein in PROSITE PS51371, CBS, 2 hits PS50042, CNMP_BINDING_3, 1 hit PS51846, CNNM, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q6P4Q7-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAPVGGGGRP VGGPARGRLL LAAPVLLVLL WALGARGQGS PQQGTIVGMR
60 70 80 90 100
LASCNKSCGT NPDGIIFVSE GSTVNLRLYG YSLGNISSNL ISFTEVDDAE
110 120 130 140 150
TLHKSTSCLE LTKDLVVQQL VNVSRGNTSG VLVVLTKFLR RSESMKLYAL
160 170 180 190 200
CTRAQPDGPW LKWTDKDSLL FMVEEPGRFL PLWLHILLIT VLLVLSGIFS
210 220 230 240 250
GLNLGLMALD PMELRIVQNC GTEKERRYAR KIEPIRRKGN YLLCSLLLGN
260 270 280 290 300
VLVNTSLTIL LDNLIGSGLM AVASSTIGIV IFGEILPQAL CSRHGLAVGA
310 320 330 340 350
NTILLTKFFM LLTFPLSFPI SKLLDFFLGQ EIRTVYNREK LMEMLKVTEP
360 370 380 390 400
YNDLVKEELN MIQGALELRT KTVEDIMTQL QDCFMIRSDA ILDFNTMSEI
410 420 430 440 450
MESGYTRIPV FEDEQSNIVD ILYVKDLAFV DPDDCTPLKT ITRFYNHPVH
460 470 480 490 500
FVFHDTKLDA MLEEFKKGKS HLAIVQKVNN EGEGDPFYEV LGLVTLEDVI
510 520 530 540 550
EEIIKSEILD ESDMYTDNRS RKRVSEKNKR DFSAFKDADN ELKVKISPQL
560 570 580 590 600
LLAAHRFLAT EVSQFSPSLI SEKILLRLLK YPDVIQELKF DEHNKYYARH
610 620 630 640 650
YLYTRNKPAD YFILILQGKV EVEAGKENMK FETGAFSYYG TMALTSVPSD
660 670 680 690 700
RSPAHPTPLS RSASLSYPDR TDVSTAATLA GSSNQFGSSV LGQYISDFSV
710 720 730 740 750
RALVDLQYIK ITRQQYQNGL LASRMENSPQ FPIDGCTTHM ENLAEKSELP
760 770
VVDETTTLLN ERNSLLHKAS HENAI
Sequence cautioni
The sequence AAF86370 differs from that shown. Reason: Frameshift.Curated
The sequence AAY14963 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB14266 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 302 | T → I in AAF86370 (PubMed:12657465).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_033365 | 126 | G → R1 PublicationCorresponds to variant dbSNP:rs17855817Ensembl. | 1 | |
Natural variantiVAR_035946 | 134 | V → L in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_058319 | 196 | S → P in JALIS. 1 Publication | 1 | |
Natural variantiVAR_058320 | 200 | S → Y in JALIS. 1 PublicationCorresponds to variant dbSNP:rs79424354EnsemblClinVar. | 1 | |
Natural variantiVAR_058321 | 236 | R → Q in JALIS. 1 PublicationCorresponds to variant dbSNP:rs75267011EnsemblClinVar. | 1 | |
Natural variantiVAR_058322 | 324 | L → P in JALIS. 2 PublicationsCorresponds to variant dbSNP:rs74552543EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_054271 | 1 – 513 | Missing in isoform 2. 1 PublicationAdd BLAST | 513 | |
Alternative sequenceiVSP_054272 | 711 – 775 | ITRQQ…HENAI → PQSWPCFSRPGDRVCLPAPP SMNSSLPHADHSAAVPERAA GFSHGEQPSVSHRRVHHPHG ELGREV in isoform 2. 1 PublicationAdd BLAST | 65 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK022833 mRNA Translation: BAB14266.1 Different initiation. AK293915 mRNA Translation: BAH11626.1 AC092636 Genomic DNA Translation: AAY14963.1 Different initiation. BC063295 mRNA Translation: AAH63295.2 FJ619522 Genomic DNA Translation: ACV32670.1 FJ619523 Genomic DNA Translation: ACV32671.1 FJ619524 Genomic DNA Translation: ACV32672.1 AF202777 mRNA Translation: AAF86370.1 Frameshift. AB046812 mRNA Translation: BAB13418.1 |
CCDSi | CCDS2024.2 [Q6P4Q7-1] |
RefSeqi | NP_064569.3, NM_020184.3 [Q6P4Q7-1] |
Genome annotation databases
Ensembli | ENST00000377075; ENSP00000366275; ENSG00000158158 [Q6P4Q7-1] |
GeneIDi | 26504 |
KEGGi | hsa:26504 |
UCSCi | uc002swx.3, human [Q6P4Q7-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK022833 mRNA Translation: BAB14266.1 Different initiation. AK293915 mRNA Translation: BAH11626.1 AC092636 Genomic DNA Translation: AAY14963.1 Different initiation. BC063295 mRNA Translation: AAH63295.2 FJ619522 Genomic DNA Translation: ACV32670.1 FJ619523 Genomic DNA Translation: ACV32671.1 FJ619524 Genomic DNA Translation: ACV32672.1 AF202777 mRNA Translation: AAF86370.1 Frameshift. AB046812 mRNA Translation: BAB13418.1 |
CCDSi | CCDS2024.2 [Q6P4Q7-1] |
RefSeqi | NP_064569.3, NM_020184.3 [Q6P4Q7-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6G52 | X-ray | 3.69 | A/B/C/D/E/F/G/H/I | 545-730 | [»] | |
6RS2 | X-ray | 3.69 | A/B/C/D | 359-511 | [»] | |
SASBDBi | Q6P4Q7 | |||||
SMRi | Q6P4Q7 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 117711, 18 interactors |
IntActi | Q6P4Q7, 11 interactors |
STRINGi | 9606.ENSP00000366275 |
Protein family/group databases
TCDBi | 1.A.112.1.4, the cyclin m mg2+ exporter (cnnm) family |
PTM databases
GlyConnecti | 1504, 6 N-Linked glycans (2 sites) |
GlyGeni | Q6P4Q7, 4 sites |
iPTMneti | Q6P4Q7 |
PhosphoSitePlusi | Q6P4Q7 |
Polymorphism and mutation databases
BioMutai | CNNM4 |
DMDMi | 224471892 |
Proteomic databases
EPDi | Q6P4Q7 |
jPOSTi | Q6P4Q7 |
MassIVEi | Q6P4Q7 |
MaxQBi | Q6P4Q7 |
PaxDbi | Q6P4Q7 |
PeptideAtlasi | Q6P4Q7 |
PRIDEi | Q6P4Q7 |
ProteomicsDBi | 6371 66982 [Q6P4Q7-1] |
Protocols and materials databases
Antibodypediai | 17482, 145 antibodies |
Genome annotation databases
Ensembli | ENST00000377075; ENSP00000366275; ENSG00000158158 [Q6P4Q7-1] |
GeneIDi | 26504 |
KEGGi | hsa:26504 |
UCSCi | uc002swx.3, human [Q6P4Q7-1] |
Organism-specific databases
CTDi | 26504 |
DisGeNETi | 26504 |
EuPathDBi | HostDB:ENSG00000158158.11 |
GeneCardsi | CNNM4 |
HGNCi | HGNC:105, CNNM4 |
HPAi | ENSG00000158158, Low tissue specificity |
MalaCardsi | CNNM4 |
MIMi | 217080, phenotype 607805, gene |
neXtProti | NX_Q6P4Q7 |
OpenTargetsi | ENSG00000158158 |
Orphaneti | 1873, Jalili syndrome |
PharmGKBi | PA26671 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2118, Eukaryota |
GeneTreei | ENSGT00940000156317 |
HOGENOMi | CLU_011310_1_1_1 |
InParanoidi | Q6P4Q7 |
OMAi | FMIRNDA |
OrthoDBi | 1446644at2759 |
PhylomeDBi | Q6P4Q7 |
TreeFami | TF101012 |
Enzyme and pathway databases
PathwayCommonsi | Q6P4Q7 |
Miscellaneous databases
BioGRID-ORCSi | 26504, 4 hits in 841 CRISPR screens |
ChiTaRSi | CNNM4, human |
GenomeRNAii | 26504 |
Pharosi | Q6P4Q7, Tbio |
PROi | PR:Q6P4Q7 |
RNActi | Q6P4Q7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000158158, Expressed in muscle of leg and 168 other tissues |
Genevisiblei | Q6P4Q7, HS |
Family and domain databases
InterProi | View protein in InterPro IPR000644, CBS_dom IPR018490, cNMP-bd-like IPR000595, cNMP-bd_dom IPR002550, CNNM |
Pfami | View protein in Pfam PF00571, CBS, 1 hit PF01595, DUF21, 1 hit |
SUPFAMi | SSF51206, SSF51206, 1 hit |
PROSITEi | View protein in PROSITE PS51371, CBS, 2 hits PS50042, CNMP_BINDING_3, 1 hit PS51846, CNNM, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CNNM4_HUMAN | |
Accessioni | Q6P4Q7Primary (citable) accession number: Q6P4Q7 Secondary accession number(s): B7Z1U0 Q9NRN1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 24, 2007 |
Last sequence update: | March 3, 2009 | |
Last modified: | December 2, 2020 | |
This is version 146 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations