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Entry version 109 (13 Feb 2019)
Sequence version 3 (19 Sep 2006)
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Protein

Uncharacterized protein C12orf40

Gene

C12orf40

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

Annotation score:2 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 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:
Uncharacterized protein C12orf40
<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
<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 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000180116.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26846 C12orf40

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q86WS4

<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

Organism-specific databases

Open Targets

More...
OpenTargetsi
ENSG00000180116

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA143485370

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
C12orf40

Domain mapping of disease mutations (DMDM)

More...
DMDMi
121944433

<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_00003480511 – 652Uncharacterized protein C12orf40Add BLAST652

Proteomic databases

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

More...
PaxDbi
Q86WS4

PeptideAtlas

More...
PeptideAtlasi
Q86WS4

PRoteomics IDEntifications database

More...
PRIDEi
Q86WS4

ProteomicsDB human proteome resource

More...
ProteomicsDBi
70196
70197 [Q86WS4-2]
70198 [Q86WS4-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q86WS4

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

More...
PhosphoSitePlusi
Q86WS4

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000180116 Expressed in 20 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q86WS4 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q86WS4 HS

<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%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
DYNLL2Q96FJ23EBI-10286004,EBI-742371

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
129571, 1 interactor

Protein interaction database and analysis system

More...
IntActi
Q86WS4, 5 interactors

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q86WS4

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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IVK5 Eukaryota
ENOG410XVS9 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000002848

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000081762

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q86WS4

Identification of Orthologs from Complete Genome Data

More...
OMAi
VNQISCK

Database of Orthologous Groups

More...
OrthoDBi
625360at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q86WS4

TreeFam database of animal gene trees

More...
TreeFami
TF336354

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR027883 DUF4552

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15089 DUF4552, 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 (3)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 3 <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: Q86WS4-1) [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
MNWVGGSRSR VLIKQERRKQ KEYFEKHRLK SKMKSLGVLS PVKNSAVSLD
60 70 80 90 100
ILNLYMVNQI SCKKKIPETV RKPTHVNMNR DIKMPLRKHN LELTMSPHCV
110 120 130 140 150
PSKLCLDDTE TNVNCQRLSS KEDLGPVQSQ GMDSYSMLHP QFSKIENCSF
160 170 180 190 200
TPSSFSVELP SNRHISKLNF TSGIAPTPQK LAYEKKQNDQ RSTVNCSDSL
210 220 230 240 250
LSKLNKSQDV FSPSHKTTRF GTLFERLNSL GNRNLLTKSP AVIMDEDCRS
260 270 280 290 300
TDEIRQSDYI TEKHSIQHIW GKNGKEVSNF LEDVNQSTPN LLSENCDSFV
310 320 330 340 350
SQNMINVLNI DEQRIKKTFN KCDYDSMGDT CVVTSSDKNH VTDRCIRNIF
360 370 380 390 400
TVPELTFSNS TLNKTSYPEK CQPNKKYQRE YNKNERNDLS TSFENDYYPS
410 420 430 440 450
SSERKEKFEN DYQEKTPQKS IQKYPANSMG NIPSEELHSK QSWDFGLDEI
460 470 480 490 500
LMEEGGIYSL KSKRISTKKI SLDSAQSSRS TSYSPRPTDS CFSSSSDLPS
510 520 530 540 550
EDEDQISQQI EDSNRMTIKT KEKMNNFYVE RMAKLSGDRI VKNDDKIHKQ
560 570 580 590 600
NENFYQFSVK NNTDQFPQLQ CNSAHILQNK TNDNCVLQAA RCDAGIQTES
610 620 630 640 650
ESVMEEKLDV AIQCDLISKC TCRSDVSLCN LERCSGNIKA DTTGGQEIHK

NN
Length:652
Mass (Da):74,505
Last modified:September 19, 2006 - 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:iDBE494C3C183E77C
GO
Isoform 2 (identifier: Q86WS4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     471-477: SLDSAQS → CQYNCIS
     478-652: Missing.

Note: No experimental confirmation available.
Show »
Length:477
Mass (Da):54,887
Checksum:i2977FC650B9706BF
GO
Isoform 3 (identifier: Q86WS4-3) [UniParc]FASTAAdd to basket
Also known as: HEL-206

The sequence of this isoform differs from the canonical sequence as follows:
     1-77: Missing.
     429-471: MGNIPSEELH...SKRISTKKIS → IWCTKCSEFK...QAFLNNDLQL
     472-652: Missing.

Show »
Length:394
Mass (Da):45,453
Checksum:i76263DC739539F3D
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 AAH38754 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

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_06161013I → L. Corresponds to variant dbSNP:rs58302581Ensembl.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_0350821 – 77Missing in isoform 3. 2 PublicationsAdd BLAST77
Alternative sequenceiVSP_035083429 – 471MGNIP…TKKIS → IWCTKCSEFKVIFTLIHYVL MLNLFLKSLRTAFQAFLNND LQL in isoform 3. 2 PublicationsAdd BLAST43
Alternative sequenceiVSP_035084471 – 477SLDSAQS → CQYNCIS in isoform 2. 1 Publication7
Alternative sequenceiVSP_035086472 – 652Missing in isoform 3. 2 PublicationsAdd BLAST181
Alternative sequenceiVSP_035085478 – 652Missing in isoform 2. 1 PublicationAdd BLAST175

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK097445 mRNA Translation: BAC05057.1
EU668334 mRNA Translation: ACF94487.1
AC125491 Genomic DNA No translation available.
BC038754 mRNA Translation: AAH38754.2 Different initiation.
BC048120 mRNA Translation: AAH48120.3

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS41770.1 [Q86WS4-1]
CCDS81681.1 [Q86WS4-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001026918.2, NM_001031748.3 [Q86WS4-1]
NP_001306176.1, NM_001319247.1 [Q86WS4-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.648205

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000324616; ENSP00000317671; ENSG00000180116 [Q86WS4-1]
ENST00000405531; ENSP00000383897; ENSG00000180116 [Q86WS4-2]
ENST00000468200; ENSP00000473371; ENSG00000180116 [Q86WS4-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
283461

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:283461

UCSC genome browser

More...
UCSCi
uc001rmc.5 human [Q86WS4-1]

<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>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
AK097445 mRNA Translation: BAC05057.1
EU668334 mRNA Translation: ACF94487.1
AC125491 Genomic DNA No translation available.
BC038754 mRNA Translation: AAH38754.2 Different initiation.
BC048120 mRNA Translation: AAH48120.3
CCDSiCCDS41770.1 [Q86WS4-1]
CCDS81681.1 [Q86WS4-2]
RefSeqiNP_001026918.2, NM_001031748.3 [Q86WS4-1]
NP_001306176.1, NM_001319247.1 [Q86WS4-2]
UniGeneiHs.648205

3D structure databases

ProteinModelPortaliQ86WS4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129571, 1 interactor
IntActiQ86WS4, 5 interactors

PTM databases

iPTMnetiQ86WS4
PhosphoSitePlusiQ86WS4

Polymorphism and mutation databases

BioMutaiC12orf40
DMDMi121944433

Proteomic databases

PaxDbiQ86WS4
PeptideAtlasiQ86WS4
PRIDEiQ86WS4
ProteomicsDBi70196
70197 [Q86WS4-2]
70198 [Q86WS4-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000324616; ENSP00000317671; ENSG00000180116 [Q86WS4-1]
ENST00000405531; ENSP00000383897; ENSG00000180116 [Q86WS4-2]
ENST00000468200; ENSP00000473371; ENSG00000180116 [Q86WS4-3]
GeneIDi283461
KEGGihsa:283461
UCSCiuc001rmc.5 human [Q86WS4-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
283461
EuPathDBiHostDB:ENSG00000180116.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
C12orf40
HGNCiHGNC:26846 C12orf40
neXtProtiNX_Q86WS4
OpenTargetsiENSG00000180116
PharmGKBiPA143485370

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IVK5 Eukaryota
ENOG410XVS9 LUCA
GeneTreeiENSGT00390000002848
HOGENOMiHOG000081762
InParanoidiQ86WS4
OMAiVNQISCK
OrthoDBi625360at2759
PhylomeDBiQ86WS4
TreeFamiTF336354

Miscellaneous databases

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

More...
ChiTaRSi
C12orf40 human

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

More...
GenomeRNAii
283461

Protein Ontology

More...
PROi
PR:Q86WS4

Gene expression databases

BgeeiENSG00000180116 Expressed in 20 organ(s), highest expression level in testis
ExpressionAtlasiQ86WS4 baseline and differential
GenevisibleiQ86WS4 HS

Family and domain databases

InterProiView protein in InterPro
IPR027883 DUF4552
PfamiView protein in Pfam
PF15089 DUF4552, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
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 nameiCL040_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: Q86WS4
Secondary accession number(s): B7WNU1
, Q8IXY6, Q8N818, V9HW02
<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: September 2, 2008
Last sequence update: September 19, 2006
Last modified: February 13, 2019
This is version 109 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: 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
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