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Entry version 162 (07 Oct 2020)
Sequence version 3 (31 Jul 2019)
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Protein

Cell growth regulator with EF hand domain protein 1

Gene

CGREF1

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 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

Mediates cell-cell adhesion in a calcium-dependent manner (By similarity). Able to inhibit growth in several cell lines.By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) of the calcium-binding region(s) within the protein. One common calcium-binding motif is the EF-hand, but other calcium-binding motifs also exist.<p><a href='/help/ca_bind' target='_top'>More...</a></p>Calcium bindingi82 – 931PROSITE-ProRule annotationAdd BLAST12
Calcium bindingi127 – 1382PROSITE-ProRule annotationAdd BLAST12

<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 processCell adhesion, Cell cycle, Growth arrest
LigandCalcium, Metal-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q99674

<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:
Cell growth regulator with EF hand domain protein 1Curated
Alternative name(s):
Cell growth regulatory gene 11 protein
Hydrophobestin
<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:CGREF1Imported
Synonyms:CGR111 Publication
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000138028.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:16962, CGREF1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606137, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q99674

<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

Keywords - Cellular componenti

Secreted

<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
10669

Open Targets

More...
OpenTargetsi
ENSG00000138028

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134984105

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q99674, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CGREF1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
215273950

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 19Sequence analysisAdd BLAST19
<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_000007387420 – 318Cell growth regulator with EF hand domain protein 1Add BLAST299

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Probably digested extracellularly by an unknown serine protease generating extremely hydrophobic bioactive peptides.By similarity

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q99674

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q99674

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q99674

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q99674

PeptideAtlas

More...
PeptideAtlasi
Q99674

PRoteomics IDEntifications database

More...
PRIDEi
Q99674

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
18384
6021
6029
6081

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q99674, 2 sites, 1 O-linked glycan (2 sites)

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q99674

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

More...
PhosphoSitePlusi
Q99674

<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 reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By p53/TP53.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000138028, Expressed in anterior cingulate cortex and 156 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q99674, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q99674, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000138028, Tissue enhanced (brain)

<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)

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BioGRIDi
115911, 1 interactor

Protein interaction database and analysis system

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IntActi
Q99674, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000385452

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q99674, protein

<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%5Fand%5Fdomains%5Fsection">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>Domaini69 – 104EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini114 – 149EF-hand 2PROSITE-ProRule annotationAdd BLAST36
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati219 – 2351Add BLAST17
Repeati236 – 2522Add BLAST17
Repeati253 – 2693Add BLAST17
Repeati270 – 2864; appoximateAdd BLAST17

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>Regioni219 – 2864 X 17 AA approximate tandem repeats of P-G-P-R-G-E-A-G-G-Q-A-E-A-[KR]-G-D-A1 PublicationAdd BLAST68

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Both EF-hands are required for function.By similarity

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG502S2TZ, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000154141

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_1916361_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q99674

Database of Orthologous Groups

More...
OrthoDBi
1308168at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q99674

TreeFam database of animal gene trees

More...
TreeFami
TF315801

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR040139, CGREF1
IPR011992, EF-hand-dom_pair
IPR018247, EF_Hand_1_Ca_BS
IPR002048, EF_hand_dom

The PANTHER Classification System

More...
PANTHERi
PTHR23104:SF11, PTHR23104:SF11, 2 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47473, SSF47473, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00018, EF_HAND_1, 2 hits
PS50222, EF_HAND_2, 2 hits

<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 (3+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 4 (identifier: Q99674-4) [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
MLPLTMTVLI LLLLPTGQAA PKDGVTRPDS EVQHQLLPNP FQPGQEQLGL
60 70 80 90 100
LQSYLKGLGR TEVQLEHLSR EQVLLYLFAL HDYDQSGQLD GLELLSMLTA
110 120 130 140 150
ALAPGAANSP TTNPVILIVD KVLETQDLNG DGLMTPAELI NFPGVALRHV
160 170 180 190 200
EPGEPLAPSP QEPQAVGRQS LLAKSPLRQE TQEAPGPREE AKGQVEARRE
210 220 230 240 250
SLDPVQEPGG QAEADGDVPG PRGEAEGQAE AKGDAPGPRG EAGGQAEAEG
260 270 280 290 300
DAPGPRGEAG GQAEAEGDAP GPRGEAGGQA EARENGEEAK ELPGETLESK
310
NTQNDFEVHI VQVENDEI
Length:318
Mass (Da):33,456
Last modified:July 31, 2019 - 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:iCA4BBDB696865CB6
GO
Isoform 2 (identifier: Q99674-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     115-132: VILIVDKVLETQDLNGDG → GNLDARLDGGEKAMQPQW
     133-318: Missing.

Show »
Length:132
Mass (Da):14,337
Checksum:iE432458945DF66A7
GO
Isoform 3 (identifier: Q99674-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-96: Missing.
     149-208: HVEPGEPLAP...RESLDPVQEP → PYPPYIGVGP...GGEKAMQPQW
     209-318: Missing.

Show »
Length:112
Mass (Da):11,981
Checksum:iFCA6A59F3F3B040A
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A4W8VYG7A0A4W8VYG7_HUMAN
Cell growth regulator with EF hand ...
CGREF1
301Annotation 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>
A0A4W8W4R1A0A4W8W4R1_HUMAN
Cell growth regulator with EF hand ...
CGREF1
440Annotation score:

Annotation score:1 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>
F8WE80F8WE80_HUMAN
Cell growth regulator with EF hand ...
CGREF1
57Annotation score:

Annotation score:1 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>

<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 AAX93168 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence BAG63550 differs from that shown. Reason: Erroneous termination. Truncated C-terminus.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 conflicti249E → K in AAC50896 (PubMed:8968090).Curated1

<p>This subsection of the 'Sequence' section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement%5Fin%5Fdisease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

The number of repeats of 17 amino acids in the C-terminal is polymorphic and varies between 3 and 4. The majority of available transcripts lacks one of these repeats. The sequence shown, corresponding to the reference genome (GRCh38/hg38), contains 4 repeats.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_061088116I → M. Corresponds to variant dbSNP:rs2384572Ensembl.1
Natural variantiVAR_047648212A → V. Corresponds to variant dbSNP:rs11893478Ensembl.1
Natural variantiVAR_081928226E → G. Corresponds to variant dbSNP:rs74360681Ensembl.1
Natural variantiVAR_081929232K → E. Corresponds to variant dbSNP:rs11889832Ensembl.1
Natural variantiVAR_047649232K → N. Corresponds to variant dbSNP:rs11889831Ensembl.1
Natural variantiVAR_047650243G → E1 PublicationCorresponds to variant dbSNP:rs1057389Ensembl.1
Natural variantiVAR_081930253 – 269Missing 4 PublicationsAdd BLAST17

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_0602321 – 96Missing in isoform 3. Add BLAST96
Alternative sequenceiVSP_060233115 – 132VILIV…LNGDG → GNLDARLDGGEKAMQPQW in isoform 2. Add BLAST18
Alternative sequenceiVSP_060234133 – 318Missing in isoform 2. Add BLAST186
Alternative sequenceiVSP_060235149 – 208HVEPG…PVQEP → PYPPYIGVGPNSNMCSRSDL PEDSNTLYPGSHLWLRHALN SKGNLDARLDGGEKAMQPQW in isoform 3. Add BLAST60
Alternative sequenceiVSP_060236209 – 318Missing in isoform 3. Add BLAST110

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
U66468 mRNA Translation: AAC50896.1
BX419588 mRNA No translation available.
AK290128 mRNA Translation: BAF82817.1
AK302185 mRNA Translation: BAG63550.1 Sequence problems.
AC013403 Genomic DNA Translation: AAX93168.1 Sequence problems.
CH471053 Genomic DNA Translation: EAX00637.1
BC034764 mRNA Translation: AAH34764.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS33162.2 [Q99674-4]
CCDS54339.1 [Q99674-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001159711.1, NM_001166239.1 [Q99674-4]
NP_001159712.1, NM_001166240.1 [Q99674-2]
NP_001288253.1, NM_001301324.1
NP_006560.3, NM_006569.5 [Q99674-4]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000312734; ENSP00000324025; ENSG00000138028 [Q99674-4]
ENST00000402394; ENSP00000385452; ENSG00000138028 [Q99674-4]
ENST00000402550; ENSP00000385103; ENSG00000138028 [Q99674-2]
ENST00000405600; ENSP00000386113; ENSG00000138028 [Q99674-4]
ENST00000640154; ENSP00000491464; ENSG00000138028 [Q99674-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
10669

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:10669

UCSC genome browser

More...
UCSCi
uc002riq.4, human [Q99674-4]

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
U66468 mRNA Translation: AAC50896.1
BX419588 mRNA No translation available.
AK290128 mRNA Translation: BAF82817.1
AK302185 mRNA Translation: BAG63550.1 Sequence problems.
AC013403 Genomic DNA Translation: AAX93168.1 Sequence problems.
CH471053 Genomic DNA Translation: EAX00637.1
BC034764 mRNA Translation: AAH34764.1
CCDSiCCDS33162.2 [Q99674-4]
CCDS54339.1 [Q99674-2]
RefSeqiNP_001159711.1, NM_001166239.1 [Q99674-4]
NP_001159712.1, NM_001166240.1 [Q99674-2]
NP_001288253.1, NM_001301324.1
NP_006560.3, NM_006569.5 [Q99674-4]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGRIDi115911, 1 interactor
IntActiQ99674, 1 interactor
STRINGi9606.ENSP00000385452

PTM databases

GlyGeniQ99674, 2 sites, 1 O-linked glycan (2 sites)
iPTMnetiQ99674
PhosphoSitePlusiQ99674

Polymorphism and mutation databases

BioMutaiCGREF1
DMDMi215273950

Proteomic databases

EPDiQ99674
jPOSTiQ99674
MassIVEiQ99674
MaxQBiQ99674
PeptideAtlasiQ99674
PRIDEiQ99674
ProteomicsDBi18384
6021
6029
6081

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
2192, 181 antibodies

The DNASU plasmid repository

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DNASUi
10669

Genome annotation databases

EnsembliENST00000312734; ENSP00000324025; ENSG00000138028 [Q99674-4]
ENST00000402394; ENSP00000385452; ENSG00000138028 [Q99674-4]
ENST00000402550; ENSP00000385103; ENSG00000138028 [Q99674-2]
ENST00000405600; ENSP00000386113; ENSG00000138028 [Q99674-4]
ENST00000640154; ENSP00000491464; ENSG00000138028 [Q99674-3]
GeneIDi10669
KEGGihsa:10669
UCSCiuc002riq.4, human [Q99674-4]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
10669
DisGeNETi10669
EuPathDBiHostDB:ENSG00000138028.14

GeneCards: human genes, protein and diseases

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GeneCardsi
CGREF1
HGNCiHGNC:16962, CGREF1
HPAiENSG00000138028, Tissue enhanced (brain)
MIMi606137, gene
neXtProtiNX_Q99674
OpenTargetsiENSG00000138028
PharmGKBiPA134984105

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502S2TZ, Eukaryota
GeneTreeiENSGT00940000154141
HOGENOMiCLU_1916361_0_0_1
InParanoidiQ99674
OrthoDBi1308168at2759
PhylomeDBiQ99674
TreeFamiTF315801

Enzyme and pathway databases

PathwayCommonsiQ99674

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
10669, 2 hits in 874 CRISPR screens

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

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ChiTaRSi
CGREF1, human

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

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GenomeRNAii
10669
PharosiQ99674, Tbio

Protein Ontology

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PROi
PR:Q99674
RNActiQ99674, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000138028, Expressed in anterior cingulate cortex and 156 other tissues
ExpressionAtlasiQ99674, baseline and differential
GenevisibleiQ99674, HS

Family and domain databases

InterProiView protein in InterPro
IPR040139, CGREF1
IPR011992, EF-hand-dom_pair
IPR018247, EF_Hand_1_Ca_BS
IPR002048, EF_hand_dom
PANTHERiPTHR23104:SF11, PTHR23104:SF11, 2 hits
SUPFAMiSSF47473, SSF47473, 1 hit
PROSITEiView protein in PROSITE
PS00018, EF_HAND_1, 2 hits
PS50222, EF_HAND_2, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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 nameiCGRE1_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: Q99674
Secondary accession number(s): A6NHV7
, B4DXY8, B5MCB7, B5MCC9, B5MCP5, E7EU99, Q8N4B7
<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: September 19, 2002
Last sequence update: July 31, 2019
Last modified: October 7, 2020
This is version 162 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

Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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