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Entry version 134 (13 Feb 2019)
Sequence version 3 (03 Mar 2009)
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Protein

Metal transporter CNNM4

Gene

CNNM4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Protein family/group databases

Transport Classification Database

More...
TCDBi
9.A.40.3.4 the hlyc/corc (hcc) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Metal transporter CNNM4
Alternative name(s):
Ancient conserved domain-containing protein 4
Cyclin-M4
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CNNM4
Synonyms:ACDP4, KIAA1592
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000158158.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:105 CNNM4

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607805 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6P4Q7

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 178ExtracellularSequence analysisAdd BLAST178
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei179 – 199HelicalSequence analysisAdd BLAST21
Topological domaini200 – 240CytoplasmicSequence analysisAdd BLAST41
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
26504

MalaCards human disease database

More...
MalaCardsi
CNNM4
MIMi217080 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000158158

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
1873 Jalili syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26671

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CNNM4

Domain mapping of disease mutations (DMDM)

More...
DMDMi
224471892

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002957651 – 775Metal transporter CNNM4Add BLAST775

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi85N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi122N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei660PhosphoserineCombined sources1
Modified residuei664PhosphoserineCombined sources1
Modified residuei770PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q6P4Q7

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q6P4Q7

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q6P4Q7

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q6P4Q7

PeptideAtlas

More...
PeptideAtlasi
Q6P4Q7

PRoteomics IDEntifications database

More...
PRIDEi
Q6P4Q7

ProteomicsDB human proteome resource

More...
ProteomicsDBi
66982

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1504

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q6P4Q7

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q6P4Q7

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed. Highly expressed in heart.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000158158 Expressed in 149 organ(s), highest expression level in muscle of leg

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q6P4Q7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA017732

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with COX11.1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
117711, 12 interactors

Protein interaction database and analysis system

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IntActi
Q6P4Q7, 4 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000366275

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4IY3X-ray3.60A/B/C/D359-511[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q6P4Q7

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q6P4Q7

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini178 – 358CNNM transmembranePROSITE-ProRule annotationAdd BLAST181
Domaini377 – 438CBS 1PROSITE-ProRule annotationAdd BLAST62
Domaini445 – 511CBS 2PROSITE-ProRule annotationAdd BLAST67

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the ACDP family.Curated

Keywords - Domaini

CBS domain, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2118 Eukaryota
COG1253 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156317

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000231947

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG074775

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q6P4Q7

KEGG Orthology (KO)

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KOi
K16302

Identification of Orthologs from Complete Genome Data

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OMAi
LHDCFMI

Database of Orthologous Groups

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OrthoDBi
1446644at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q6P4Q7

TreeFam database of animal gene trees

More...
TreeFami
TF101012

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000644 CBS_dom
IPR018490 cNMP-bd-like
IPR000595 cNMP-bd_dom
IPR002550 CNNM

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00571 CBS, 1 hit
PF01595 DUF21, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF51206 SSF51206, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51371 CBS, 2 hits
PS50042 CNMP_BINDING_3, 1 hit
PS51846 CNNM, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2024.2 [Q6P4Q7-1]

NCBI Reference Sequences

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RefSeqi
NP_064569.3, NM_020184.3 [Q6P4Q7-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.175043

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000377075; ENSP00000366275; ENSG00000158158 [Q6P4Q7-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
26504

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:26504

UCSC genome browser

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UCSCi
uc002swx.3 human [Q6P4Q7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS2024.2 [Q6P4Q7-1]
RefSeqiNP_064569.3, NM_020184.3 [Q6P4Q7-1]
UniGeneiHs.175043

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...

Protein-protein interaction databases

BioGridi117711, 12 interactors
IntActiQ6P4Q7, 4 interactors
STRINGi9606.ENSP00000366275

Protein family/group databases

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

PTM databases

GlyConnecti1504
iPTMnetiQ6P4Q7
PhosphoSitePlusiQ6P4Q7

Polymorphism and mutation databases

BioMutaiCNNM4
DMDMi224471892

Proteomic databases

EPDiQ6P4Q7
jPOSTiQ6P4Q7
MaxQBiQ6P4Q7
PaxDbiQ6P4Q7
PeptideAtlasiQ6P4Q7
PRIDEiQ6P4Q7
ProteomicsDBi66982

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
26504
DisGeNETi26504
EuPathDBiHostDB:ENSG00000158158.11

GeneCards: human genes, protein and diseases

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GeneCardsi
CNNM4

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0002279
HIX0161875
HGNCiHGNC:105 CNNM4
HPAiHPA017732
MalaCardsiCNNM4
MIMi217080 phenotype
607805 gene
neXtProtiNX_Q6P4Q7
OpenTargetsiENSG00000158158
Orphaneti1873 Jalili syndrome
PharmGKBiPA26671

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2118 Eukaryota
COG1253 LUCA
GeneTreeiENSGT00940000156317
HOGENOMiHOG000231947
HOVERGENiHBG074775
InParanoidiQ6P4Q7
KOiK16302
OMAiLHDCFMI
OrthoDBi1446644at2759
PhylomeDBiQ6P4Q7
TreeFamiTF101012

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
CNNM4 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
26504

Protein Ontology

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PROi
PR:Q6P4Q7

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000158158 Expressed in 149 organ(s), highest expression level in muscle of leg
GenevisibleiQ6P4Q7 HS

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, 1 hit
PROSITEiView protein in PROSITE
PS51371 CBS, 2 hits
PS50042 CNMP_BINDING_3, 1 hit
PS51846 CNNM, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCNNM4_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q6P4Q7
Secondary accession number(s): B7Z1U0
, C7SQM3, C7SQM4, C7SQM5, Q53RE5, Q9H9G3, Q9HCI0, Q9NRN1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: March 3, 2009
Last modified: February 13, 2019
This is version 134 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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