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Protein

Metal transporter CNNM4

Gene

CNNM4

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

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

GO - Biological processi

Keywordsi

Biological processBiomineralization, Ion transport, Sensory transduction, Transport, Vision

Protein family/group databases

TCDBi9.A.40.3.4 the hlyc/corc (hcc) family

Names & Taxonomyi

Protein namesi
Recommended name:
Metal transporter CNNM4
Alternative name(s):
Ancient conserved domain-containing protein 4
Cyclin-M4
Gene namesi
Name:CNNM4
Synonyms:ACDP4, KIAA1592
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000158158.11
HGNCiHGNC:105 CNNM4
MIMi607805 gene
neXtProtiNX_Q6P4Q7

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
Topological domaini1 – 178ExtracellularSequence analysisAdd BLAST178
Transmembranei179 – 199HelicalSequence analysisAdd BLAST21
Topological domaini200 – 240CytoplasmicSequence analysisAdd BLAST41
Intramembranei241 – 261HelicalSequence analysisAdd BLAST21
Topological domaini262 – 264CytoplasmicSequence analysis3
Transmembranei265 – 285HelicalSequence analysisAdd BLAST21
Topological domaini286 – 293ExtracellularSequence analysis8
Transmembranei294 – 316HelicalSequence analysisAdd BLAST23
Topological domaini317 – 775CytoplasmicSequence analysisAdd BLAST459

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & 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.
See also OMIM:217080
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058319196S → P in JALIS. 1 Publication1
Natural variantiVAR_058320200S → Y in JALIS. 1 PublicationCorresponds to variant dbSNP:rs79424354EnsemblClinVar.1
Natural variantiVAR_058321236R → Q in JALIS. 1 PublicationCorresponds to variant dbSNP:rs75267011EnsemblClinVar.1
Natural variantiVAR_058322324L → P in JALIS. 2 PublicationsCorresponds to variant dbSNP:rs74552543EnsemblClinVar.1

Keywords - Diseasei

Amelogenesis imperfecta, Cone-rod dystrophy, Disease mutation

Organism-specific databases

DisGeNETi26504
MalaCardsiCNNM4
MIMi217080 phenotype
OpenTargetsiENSG00000158158
Orphaneti1873 Jalili syndrome
PharmGKBiPA26671

Polymorphism and mutation databases

BioMutaiCNNM4
DMDMi224471892

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002957651 – 775Metal transporter CNNM4Add BLAST775

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi85N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi122N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei660PhosphoserineCombined sources1
Modified residuei664PhosphoserineCombined sources1
Modified residuei770PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ6P4Q7
MaxQBiQ6P4Q7
PaxDbiQ6P4Q7
PeptideAtlasiQ6P4Q7
PRIDEiQ6P4Q7

PTM databases

iPTMnetiQ6P4Q7
PhosphoSitePlusiQ6P4Q7

Expressioni

Tissue specificityi

Widely expressed. Highly expressed in heart.1 Publication

Gene expression databases

BgeeiENSG00000158158
CleanExiHS_CNNM4
GenevisibleiQ6P4Q7 HS

Organism-specific databases

HPAiHPA017732

Interactioni

Subunit structurei

Interacts with COX11.1 Publication

Protein-protein interaction databases

BioGridi117711, 11 interactors
IntActiQ6P4Q7, 4 interactors
STRINGi9606.ENSP00000366275

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4IY3X-ray3.60A/B/C/D359-511[»]
ProteinModelPortaliQ6P4Q7
SMRiQ6P4Q7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini178 – 358CNNM transmembranePROSITE-ProRule annotationAdd BLAST181
Domaini377 – 438CBS 1PROSITE-ProRule annotationAdd BLAST62
Domaini445 – 511CBS 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
InParanoidiQ6P4Q7
KOiK16302
OMAiWLKWTDK
OrthoDBiEOG091G02YS
PhylomeDBiQ6P4Q7
TreeFamiTF101012

Family and domain databases

InterProiView protein in InterPro
IPR000644 CBS_dom
IPR018490 cNMP-bd-like
IPR000595 cNMP-bd_dom
IPR002550 CNNM
PfamiView protein in Pfam
PF00571 CBS, 1 hit
PF01595 DUF21, 1 hit
SUPFAMiSSF51206 SSF51206, 2 hits
PROSITEiView protein in PROSITE
PS51371 CBS, 2 hits
PS50042 CNMP_BINDING_3, 1 hit
PS51846 CNNM, 1 hit

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q6P4Q7-1) [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
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
Length:775
Mass (Da):86,607
Last modified:March 3, 2009 - v3
Checksum:iD159303834A9416C
GO
Isoform 2 (identifier: Q6P4Q7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-513: Missing.
     711-775: ITRQQYQNGL...LHKASHENAI → PQSWPCFSRP...HPHGELGREV

Note: No experimental confirmation available.
Show »
Length:263
Mass (Da):29,485
Checksum:i8AB7D712AD2BCC84
GO

Sequence cautioni

The sequence AAF86370 differs from that shown. Reason: Frameshift at positions 108 and 120.Curated
The sequence AAY14963 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB14266 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti302T → I in AAF86370 (PubMed:12657465).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033365126G → R1 PublicationCorresponds to variant dbSNP:rs17855817Ensembl.1
Natural variantiVAR_035946134V → L in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_058319196S → P in JALIS. 1 Publication1
Natural variantiVAR_058320200S → Y in JALIS. 1 PublicationCorresponds to variant dbSNP:rs79424354EnsemblClinVar.1
Natural variantiVAR_058321236R → Q in JALIS. 1 PublicationCorresponds to variant dbSNP:rs75267011EnsemblClinVar.1
Natural variantiVAR_058322324L → P in JALIS. 2 PublicationsCorresponds to variant dbSNP:rs74552543EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0542711 – 513Missing in isoform 2. 1 PublicationAdd BLAST513
Alternative sequenceiVSP_054272711 – 775ITRQQ…HENAI → PQSWPCFSRPGDRVCLPAPP SMNSSLPHADHSAAVPERAA GFSHGEQPSVSHRRVHHPHG ELGREV in isoform 2. 1 PublicationAdd BLAST65

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
CCDSiCCDS2024.2 [Q6P4Q7-1]
RefSeqiNP_064569.3, NM_020184.3 [Q6P4Q7-1]
UniGeneiHs.175043

Genome annotation databases

EnsembliENST00000377075; ENSP00000366275; ENSG00000158158 [Q6P4Q7-1]
GeneIDi26504
KEGGihsa:26504
UCSCiuc002swx.3 human [Q6P4Q7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCNNM4_HUMAN
AccessioniPrimary (citable) accession number: Q6P4Q7
Secondary accession number(s): B7Z1U0
, C7SQM3, C7SQM4, C7SQM5, Q53RE5, Q9H9G3, Q9HCI0, Q9NRN1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: March 3, 2009
Last modified: May 23, 2018
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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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