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UniProtKB - Q711Q0 (CEFIP_HUMAN)

Entry version 112 (23 Feb 2022)
Sequence version 2 (03 Apr 2007)
Previous versions | rss
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Protein

Cardiac-enriched FHL2-interacting protein

Gene

CEFIP

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

Annotation score:4 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

Plays an important role in cardiomyocyte hypertrophy via activation of the calcineurin/NFAT signaling pathway.

By similarity

<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 - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q711Q0

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q711Q0

<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%5Fand%5Ftaxonomy%5Fsection">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:
Cardiac-enriched FHL2-interacting protein1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:CEFIP1 Publication
Synonyms:C10orf71
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 10

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:26973, C10orf71

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q711Q0

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000177354

<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

<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 - Cellular componenti

Cytoplasm

<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

DisGeNET

More...DisGeNETi		118461

Open Targets

More...OpenTargetsi		ENSG00000177354

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134920715

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q711Q0, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		C10orf71

Domain mapping of disease mutations (DMDM)

More...DMDMi		143955302

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002829791 – 1435Cardiac-enriched FHL2-interacting proteinAdd BLAST1435

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 residuei120PhosphothreonineCombined sources1
Modified residuei323PhosphoserineCombined sources1
Modified residuei470PhosphoserineCombined sources1
Modified residuei816PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q711Q0

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

More...PaxDbi		Q711Q0

PeptideAtlas

More...PeptideAtlasi		Q711Q0

PRoteomics IDEntifications database

More...PRIDEi		Q711Q0

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		68588 [Q711Q0-1]
68589 [Q711Q0-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q711Q0

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

More...PhosphoSitePlusi		Q711Q0

<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

Expressed in the heart and skeletal muscle.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000177354, Expressed in skeletal muscle tissue and 98 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q711Q0, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000177354, Group enriched (skeletal muscle, tongue)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with FHL2.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		125609, 7 interactors

Protein interaction database and analysis system

More...IntActi		Q711Q0, 6 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000363259

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q711Q0, protein

<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

<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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni109 – 176DisorderedSequence analysisAdd BLAST68
Regioni203 – 234DisorderedSequence analysisAdd BLAST32
Regioni250 – 270DisorderedSequence analysisAdd BLAST21
Regioni291 – 311DisorderedSequence analysisAdd BLAST21
Regioni361 – 592DisorderedSequence analysisAdd BLAST232
Regioni609 – 772DisorderedSequence analysisAdd BLAST164
Regioni795 – 847DisorderedSequence analysisAdd BLAST53
Regioni1007 – 1108DisorderedSequence analysisAdd BLAST102
Regioni1138 – 1261DisorderedSequence analysisAdd BLAST124
Regioni1363 – 1435DisorderedSequence analysisAdd BLAST73

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi134 – 151Polar residuesSequence analysisAdd BLAST18
Compositional biasi399 – 427Polar residuesSequence analysisAdd BLAST29
Compositional biasi463 – 482Polar residuesSequence analysisAdd BLAST20
Compositional biasi570 – 592Polar residuesSequence analysisAdd BLAST23
Compositional biasi635 – 662Basic and acidic residuesSequence analysisAdd BLAST28
Compositional biasi669 – 697Polar residuesSequence analysisAdd BLAST29
Compositional biasi714 – 746Polar residuesSequence analysisAdd BLAST33
Compositional biasi747 – 772Basic and acidic residuesSequence analysisAdd BLAST26
Compositional biasi797 – 818Basic and acidic residuesSequence analysisAdd BLAST22
Compositional biasi827 – 847Polar residuesSequence analysisAdd BLAST21
Compositional biasi1054 – 1080Polar residuesSequence analysisAdd BLAST27
Compositional biasi1191 – 1210Basic and acidic residuesSequence analysisAdd BLAST20

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QVE3, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00730000111333

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_255771_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q711Q0

Identification of Orthologs from Complete Genome Data

More...OMAi		HYSPPFN

Database of Orthologous Groups

More...OrthoDBi		416362at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q711Q0

TreeFam database of animal gene trees

More...TreeFami		TF336978

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR027838, DUF4585

Pfam protein domain database

More...Pfami		View protein in Pfam
PF15232, DUF4585, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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: Q711Q0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MMQGNKKCTD AFSDSSSIGS VLDDADREVS SLTDRAFRSL CISEDTSFHD 
        60         70         80         90        100
SYLAVSPDIT RQVFGTFHQR TVGHTQRKSG IWSQLPSQGT EHSGWAATFQ 
       110        120        130        140        150
QLPKYVQGEE KYPKTSPPPT PVQRRLEVPV SGLRSSNKPV SKVSTLIKSF 
       160        170        180        190        200
DRTESQRCES RPTASKPPAL KNPPKFAPLP ENSVNFCFDS AFLTVRRVPA 
       210        220        230        240        250
EVSNTHQNSY QPGRKHGEQE SSKNPEMACH GSSSFLPAAN DTATLCESKF 
       260        270        280        290        300
PSPHHKPVTG EPGRGKGTFL HSENSAFESW NAHQPKLLER KDTAGTVPES 
       310        320        330        340        350
KAPKHYGDTT LLREPCPPER TVSPCQVQAS CSQEENRLAA GALSTSIPWG 
       360        370        380        390        400
CRDPGAQVFA VEGKAPSSQP DSQEKPAQPP WRKPKTGKKG KESLQDTLEE 
       410        420        430        440        450
KTQTNQRGPP LYTKHNPQEQ FSENNALDLP VEPNEHYDPP FNISKLLTPI 
       460        470        480        490        500
IPSKHALDSA DSQPAERTPS PPGQLNGYQE KEPSECQSRD SYKSKAPSLL 
       510        520        530        540        550
FNLKDVRKRV KSTYSSSPLL KVLDEKTRGK VDGKQEPVSN GVILPNGLEE 
       560        570        580        590        600
SPPNELSKER PADDPTASHI NPQKDPTADP SEPSADSYLT LSTAPTIAKA 
       610        620        630        640        650
PFYVNGEAAE RSSYENKEVE GELEMGPAGS SWCPDSREHR PRKHLSLRLC 
       660        670        680        690        700
NRDPEPGGAT EKMKTHQLEN GLSRSVSQET EPEREAGLQN THLNQKFFPG 
       710        720        730        740        750
PLSPEEEDVF YSDSQSDFMP SLKGKAKFST SSSDQSFASF DDQQKMWFTE 
       760        770        780        790        800
NQREDRRKDV SAGDSQKDEK ENVMRKDELQ YCALSNGHAC LENRSQGEAL 
       810        820        830        840        850
QRERESVSGG RTRKASAEEA NFRGSWIGEN KGTTFSQAKD LTPSPSSASN 
       860        870        880        890        900
RHMLFTIKDN TLRATPVIKP IMLPLLRTMS LEDSLSSGHK EEELPRPEWG 
       910        920        930        940        950
EDPGFCAPEN QDILGTSTPT NTRGTRVKCM ANEVMEDPGQ GSSMARMEAS 
       960        970        980        990       1000
QPAPKGNFPS MPLVGEGDRV KAPPDAAPGL VASNCKSGSA DSGKLAAPWH 
      1010       1020       1030       1040       1050
IPTIALPEGD IEDQPPPWQP ENCWEEQTPG FKSHFLSTPR AGPPGRRLVP 
      1060       1070       1080       1090       1100
SERANSPNPG SPGESSACSP AASNIWEESS QAPGGPELLP EEPNQASPWA 
      1110       1120       1130       1140       1150
SSSPARVTRR EDLTHALVWE GGSDPLLELS AEDLRTLSPR GSLLDVATSP 
      1160       1170       1180       1190       1200
AGTSGRLELP AQLERTASKP PAVPPKTEKA LRRAKKLASK RRKTDQAQEK 
      1210       1220       1230       1240       1250
HGESQEGKPC PEDLEQTQQR PLCPRERPRH NFPVVRSLPP PVHRHSVSGF 
      1260       1270       1280       1290       1300
SEPVGRRPGG PQSLTPLPAY PATQKVLQDP QSGEYFVFDL PLQVKIKTFY 
      1310       1320       1330       1340       1350
DPETGKYVKV SIPSSEGASP EPPPPDALAA PYVLYPGFQP VPVTALMPLR 
      1360       1370       1380       1390       1400
CSSQLSAPTF LRQGPRASAA RARTQSVHES GLQLDPGPHG DCTPHSAGQR 
      1410       1420       1430 
PHGPPQSPGE EGVEAPGLGI ISTDDLEDFA TEGIS
Length:1,435
Mass (Da):156,477
Last modified:April 3, 2007 - v2
<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:iD120E1F57AF30CEE
GO
Isoform 3 (identifier: Q711Q0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     693-719: LNQKFFPGPLSPEEEDVFYSDSQSDFM → THTHTHTHTHDHQHILSLFRSIKSRRQ
     720-1435: Missing.

Show »
Length:719
Mass (Da):79,378
Checksum:iABE1B529179AF351
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 CAC85340 differs from that shown. Reason: Frameshift.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 conflicti339A → E in AL833265 (PubMed:17974005).Curated1
Sequence conflicti339A → E in AAI26414 (PubMed:15489334).Curated1
Sequence conflicti382R → G in AL833265 (PubMed:17974005).Curated1
Sequence conflicti503L → H in AL833265 (PubMed:17974005).Curated1
Sequence conflicti663M → V in AK127811 (PubMed:14702039).Curated1
Sequence conflicti870 – 871PI → RL in CAC85340 (Ref. 5) Curated2
Sequence conflicti1269A → T in AL833265 (PubMed:17974005).Curated1
Sequence conflicti1281Q → H in CAC85340 (Ref. 5) Curated1

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_031441208N → K1 PublicationCorresponds to variant dbSNP:rs4838383Ensembl.1
Natural variantiVAR_061604320R → L2 PublicationsCorresponds to variant dbSNP:rs56206226Ensembl.1
Natural variantiVAR_061605461D → A2 PublicationsCorresponds to variant dbSNP:rs45554335Ensembl.1
Natural variantiVAR_061606522V → G. Corresponds to variant dbSNP:rs61453891EnsemblClinVar.1
Natural variantiVAR_031442666H → Q. Corresponds to variant dbSNP:rs10857469Ensembl.1
Natural variantiVAR_059608698F → S1 PublicationCorresponds to variant dbSNP:rs7921186Ensembl.1
Natural variantiVAR_059609741D → G. Corresponds to variant dbSNP:rs11101093Ensembl.1
Natural variantiVAR_059610883D → N1 PublicationCorresponds to variant dbSNP:rs12217617Ensembl.1
Natural variantiVAR_059611958F → Y. Corresponds to variant dbSNP:rs10857470Ensembl.1
Natural variantiVAR_0596121084G → A. Corresponds to variant dbSNP:rs11101094Ensembl.1
Natural variantiVAR_0596131254V → I. Corresponds to variant dbSNP:rs11101095Ensembl.1
Natural variantiVAR_0596141337G → S. Corresponds to variant dbSNP:rs10857472Ensembl.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_024267693 – 719LNQKF…QSDFM → THTHTHTHTHDHQHILSLFR SIKSRRQ in isoform 3. 2 PublicationsAdd BLAST27
Alternative sequenceiVSP_024268720 – 1435Missing in isoform 3. 2 PublicationsAdd BLAST716

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
AK127811 mRNA No translation available.
AL833265 mRNA No translation available.
AC027674 Genomic DNA No translation available.
BC126413 mRNA Translation: AAI26414.1
AJ311357 mRNA Translation: CAC85340.1 Frameshift.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS44387.1 [Q711Q0-1]

NCBI Reference Sequences

More...RefSeqi		NP_001128668.1, NM_001135196.1 [Q711Q0-1]
XP_005269533.1, XM_005269476.4 [Q711Q0-1]
XP_005269534.1, XM_005269477.3 [Q711Q0-1]
XP_005269535.1, XM_005269478.4 [Q711Q0-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000374144; ENSP00000363259; ENSG00000177354

Database of genes from NCBI RefSeq genomes

More...GeneIDi		118461

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:118461

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000374144.8; ENSP00000363259.3; NM_001135196.2; NP_001128668.1

UCSC genome browser

More...UCSCi		uc021pqa.3, human [Q711Q0-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AK127811 mRNA No translation available.
AL833265 mRNA No translation available.
AC027674 Genomic DNA No translation available.
BC126413 mRNA Translation: AAI26414.1
AJ311357 mRNA Translation: CAC85340.1 Frameshift.
CCDSiCCDS44387.1 [Q711Q0-1]
RefSeqiNP_001128668.1, NM_001135196.1 [Q711Q0-1]
XP_005269533.1, XM_005269476.4 [Q711Q0-1]
XP_005269534.1, XM_005269477.3 [Q711Q0-1]
XP_005269535.1, XM_005269478.4 [Q711Q0-1]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi125609, 7 interactors
IntActiQ711Q0, 6 interactors
STRINGi9606.ENSP00000363259

PTM databases

iPTMnetiQ711Q0
PhosphoSitePlusiQ711Q0

Genetic variation databases

BioMutaiC10orf71
DMDMi143955302

Proteomic databases

MassIVEiQ711Q0
PaxDbiQ711Q0
PeptideAtlasiQ711Q0
PRIDEiQ711Q0
ProteomicsDBi68588 [Q711Q0-1]
68589 [Q711Q0-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		50031, 26 antibodies from 10 providers

The DNASU plasmid repository

More...DNASUi		118461

Genome annotation databases

EnsembliENST00000374144; ENSP00000363259; ENSG00000177354
GeneIDi118461
KEGGihsa:118461
MANE-SelectiENST00000374144.8; ENSP00000363259.3; NM_001135196.2; NP_001128668.1
UCSCiuc021pqa.3, human [Q711Q0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		118461
DisGeNETi118461

GeneCards: human genes, protein and diseases

More...GeneCardsi		C10orf71
HGNCiHGNC:26973, C10orf71
HPAiENSG00000177354, Group enriched (skeletal muscle, tongue)
neXtProtiNX_Q711Q0
OpenTargetsiENSG00000177354
PharmGKBiPA134920715
VEuPathDBiHostDB:ENSG00000177354

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QVE3, Eukaryota
GeneTreeiENSGT00730000111333
HOGENOMiCLU_255771_0_0_1
InParanoidiQ711Q0
OMAiHYSPPFN
OrthoDBi416362at2759
PhylomeDBiQ711Q0
TreeFamiTF336978

Enzyme and pathway databases

PathwayCommonsiQ711Q0
SignaLinkiQ711Q0

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		118461, 5 hits in 1017 CRISPR screens

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

More...ChiTaRSi		C10orf71, human

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

More...GenomeRNAii		118461
PharosiQ711Q0, Tdark

Protein Ontology

More...PROi		PR:Q711Q0
RNActiQ711Q0, protein

Gene expression databases

BgeeiENSG00000177354, Expressed in skeletal muscle tissue and 98 other tissues
GenevisibleiQ711Q0, HS

Family and domain databases

InterProiView protein in InterPro
IPR027838, DUF4585
PfamiView protein in Pfam
PF15232, DUF4585, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiCEFIP_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: Q711Q0
Secondary accession number(s): A0AVL8
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: April 3, 2007
Last modified: February 23, 2022
This is version 112 of the entry and version 2 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

Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
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