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Entry version 110 (16 Oct 2019)
Sequence version 2 (13 Jul 2010)
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Protein

EF-hand and coiled-coil domain-containing protein 1

Gene

EFCC1

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

Annotation score:3 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 transcript 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

Caution

It is uncertain whether Met-1 or Met-12 is the initiator.Curated

<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

<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:
EF-hand and coiled-coil domain-containing protein 1
Alternative name(s):
Coiled-coil domain-containing protein 48
<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:EFCC1
Synonyms:C3orf73, CCDC48
<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 3

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25692 EFCC1

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9HA90

<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

<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
ENSG00000114654

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142672165

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9HA90

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EFCC1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
300669629

<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_00002345101 – 598EF-hand and coiled-coil domain-containing protein 1Add BLAST598

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9HA90

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9HA90

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

More...
PaxDbi
Q9HA90

PeptideAtlas

More...
PeptideAtlasi
Q9HA90

PRoteomics IDEntifications database

More...
PRIDEi
Q9HA90

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
81385 [Q9HA90-1]
81386 [Q9HA90-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9HA90

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

More...
PhosphoSitePlusi
Q9HA90

<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
ENSG00000114654 Expressed in 95 organ(s), highest expression level in upper lobe of left lung

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9HA90 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA042798
HPA050888

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
122918, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000414597

<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>Domaini54 – 89EF-handPROSITE-ProRule annotationAdd BLAST36

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili196 – 303Sequence analysisAdd BLAST108
Coiled coili479 – 533Sequence analysisAdd BLAST55

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 amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi175 – 184Poly-Arg10
Compositional biasi582 – 589Poly-Ala8

<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 - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IH78 Eukaryota
ENOG410Y9W3 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000183014

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000090223

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9HA90

Identification of Orthologs from Complete Genome Data

More...
OMAi
CRGRCDD

Database of Orthologous Groups

More...
OrthoDBi
1061806at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9HA90

TreeFam database of animal gene trees

More...
TreeFami
TF330736

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR031601 CCD48
IPR002048 EF_hand_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15799 CCD48, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50222 EF_HAND_2, 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>. 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_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: Q9HA90-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><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
MEPVSTGAEA GMEGAGGDPY RRPARRTQWL LSALAHHYGL DRGVENEIVV
60 70 80 90 100
LATGLDQYLQ EVFHHLDCRG AGRLPRADFR ALCAVLGLRA EGATTAGQAA
110 120 130 140 150
GDGNSRDVTP GDAAAELATD GDSDTDEEAR LALRAEPPEL TFRQFHARLC
160 170 180 190 200
GYFGTRAGPR LPRGALSEHI ETQIRLRRPR RRRRPPCAPG PDSGPDCERV
210 220 230 240 250
ARLEEENSSL RELVEDLRAA LQSSDARCLA LQVGLWKSQA STHEMGHGGP
260 270 280 290 300
EAAVRELRQA QGALAAAEAR AGRLRRGQAE VRRRAEEARQ VVLRSLHRVR
310 320 330 340 350
ELEALAQQVP GLQRWVRRLE AELQRYRSED SQLPTPQLAN PEPGDKSNEP
360 370 380 390 400
EDAGTRDPDP TPEGAWQSDS SSGSRALDEV DEQLFRSVEG QAASDEEEVE
410 420 430 440 450
EERWQEEKKT PAAEAKTLLA RLSSCRGRCD DQTAEKLMTY FGHFGGANHA
460 470 480 490 500
HTLGELEACI AMLVEQLRTQ GCGGRTLGTS EEEAELQQKV EENEHLRLEL
510 520 530 540 550
QMVETERVRL SLLEEKLVDV LQLLQRLRDL NISKRALGKI LLSTLDAFRD
560 570 580 590
PTHEGRPSPA AILDALHQAL AACQLLRRQP SAPASAAAAL TNPLLVSC
Length:598
Mass (Da):65,701
Last modified:July 13, 2010 - 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:i414C1E0FF5F47EA0
GO
Isoform 2 (identifier: Q9HA90-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-437: Missing.

Show »
Length:161
Mass (Da):17,669
Checksum:i3F15DC9A94532B6B
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 AAH93800 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAI12196 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.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_050753528R → Q. Corresponds to variant dbSNP:rs3732430Ensembl.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_0394491 – 437Missing in isoform 2. 1 PublicationAdd BLAST437

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK022119 mRNA Translation: BAB13964.1
AC112484 Genomic DNA No translation available.
BC093800 mRNA Translation: AAH93800.1 Different initiation.
BC112195 mRNA Translation: AAI12196.1 Different initiation.
BF058142 mRNA No translation available.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3054.2 [Q9HA90-1]

NCBI Reference Sequences

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RefSeqi
NP_079044.2, NM_024768.2 [Q9HA90-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000436022; ENSP00000414597; ENSG00000114654 [Q9HA90-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
79825

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:79825

UCSC genome browser

More...
UCSCi
uc011bkt.2 human [Q9HA90-1]

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
AK022119 mRNA Translation: BAB13964.1
AC112484 Genomic DNA No translation available.
BC093800 mRNA Translation: AAH93800.1 Different initiation.
BC112195 mRNA Translation: AAI12196.1 Different initiation.
BF058142 mRNA No translation available.
CCDSiCCDS3054.2 [Q9HA90-1]
RefSeqiNP_079044.2, NM_024768.2 [Q9HA90-1]

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

BioGridi122918, 1 interactor
STRINGi9606.ENSP00000414597

PTM databases

iPTMnetiQ9HA90
PhosphoSitePlusiQ9HA90

Polymorphism and mutation databases

BioMutaiEFCC1
DMDMi300669629

Proteomic databases

jPOSTiQ9HA90
MassIVEiQ9HA90
PaxDbiQ9HA90
PeptideAtlasiQ9HA90
PRIDEiQ9HA90
ProteomicsDBi81385 [Q9HA90-1]
81386 [Q9HA90-2]

Genome annotation databases

EnsembliENST00000436022; ENSP00000414597; ENSG00000114654 [Q9HA90-1]
GeneIDi79825
KEGGihsa:79825
UCSCiuc011bkt.2 human [Q9HA90-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
79825

GeneCards: human genes, protein and diseases

More...
GeneCardsi
EFCC1
HGNCiHGNC:25692 EFCC1
HPAiHPA042798
HPA050888
neXtProtiNX_Q9HA90
OpenTargetsiENSG00000114654
PharmGKBiPA142672165

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IH78 Eukaryota
ENOG410Y9W3 LUCA
GeneTreeiENSGT00950000183014
HOGENOMiHOG000090223
InParanoidiQ9HA90
OMAiCRGRCDD
OrthoDBi1061806at2759
PhylomeDBiQ9HA90
TreeFamiTF330736

Miscellaneous databases

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

More...
GenomeRNAii
79825
PharosiQ9HA90

Protein Ontology

More...
PROi
PR:Q9HA90

Gene expression databases

BgeeiENSG00000114654 Expressed in 95 organ(s), highest expression level in upper lobe of left lung
GenevisibleiQ9HA90 HS

Family and domain databases

InterProiView protein in InterPro
IPR031601 CCD48
IPR002048 EF_hand_dom
PfamiView protein in Pfam
PF15799 CCD48, 1 hit
PROSITEiView protein in PROSITE
PS50222 EF_HAND_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

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 nameiEFCC1_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: Q9HA90
Secondary accession number(s): A8MYE2
<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: May 16, 2006
Last sequence update: July 13, 2010
Last modified: October 16, 2019
This is version 110 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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