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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-Experimental evidence at transcript leveli

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
Calcium bindingi82 – 931PROSITE-ProRule annotationAdd BLAST12
Calcium bindingi127 – 1382PROSITE-ProRule annotationAdd BLAST12

GO - Molecular functioni

GO - Biological processi

  • cell adhesion Source: UniProtKB-KW
  • cell cycle arrest Source: UniProtKB-KW
  • negative regulation of cell proliferation Source: ProtInc
  • response to stress Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Cell adhesion, Cell cycle, Growth arrest

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000138028-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Cell growth regulator with EF hand domain protein 1
Alternative name(s):
Cell growth regulatory gene 11 protein
Hydrophobestin
Gene namesi
Name:CGREF1
Synonyms:CGR11
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:16962. CGREF1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000138028.
PharmGKBiPA134984105.

Polymorphism and mutation databases

BioMutaiCGREF1.
DMDMi215273950.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 19Sequence analysisAdd BLAST19
ChainiPRO_000007387420 – 301Cell growth regulator with EF hand domain protein 1Add BLAST282

Post-translational modificationi

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

Proteomic databases

EPDiQ99674.
MaxQBiQ99674.
PeptideAtlasiQ99674.
PRIDEiQ99674.

PTM databases

iPTMnetiQ99674.
PhosphoSitePlusiQ99674.

Expressioni

Inductioni

By p53/TP53.1 Publication

Gene expression databases

BgeeiENSG00000138028.
CleanExiHS_CGREF1.
ExpressionAtlasiQ99674. baseline and differential.
GenevisibleiQ99674. HS.

Organism-specific databases

HPAiHPA008241.

Structurei

3D structure databases

ProteinModelPortaliQ99674.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini69 – 104EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini114 – 149EF-hand 2PROSITE-ProRule annotationAdd BLAST36

Domaini

Both EF-hands are required for function.By similarity

Sequence similaritiesi

Contains 2 EF-hand domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

GeneTreeiENSGT00390000011906.
HOGENOMiHOG000074093.
HOVERGENiHBG050931.
InParanoidiQ99674.
OMAiFEVHSIQ.
OrthoDBiEOG091G0GOP.
PhylomeDBiQ99674.
TreeFamiTF315801.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
[Graphical view]
PfamiPF13499. EF-hand_7. 1 hit.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS00018. EF_HAND_1. 2 hits.
PS50222. EF_HAND_2. 2 hits.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q99674-1) [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
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 GQAEARENGE EAKELPGETL ESKNTQNDFE VHIVQVENDE

I
Length:301
Mass (Da):31,905
Last modified:November 25, 2008 - v2
Checksum:iFAE211579B67AFCA
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
     133-301: Missing.

Note: No experimental confirmation available.
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.
     149-301: HVEPGEPLAP...HIVQVENDEI → PYPPYIGVGP...GGEKAMQPQW

Note: PubMed:14702039 (BAG63550.1) sequence differ(s) from that shown due to erroneous termination (Translated as Q).
Show »
Length:112
Mass (Da):11,981
Checksum:iFCA6A59F3F3B040A
GO
Isoform 4 (identifier: Q99674-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     261-261: G → GQAEAEGDAPGPRGEAGG

Show »
Length:318
Mass (Da):33,456
Checksum:iCA4BBDB696865CB6
GO
Isoform 5 (identifier: Q99674-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MNGLKEVRYA...LFLVPVPGRM
     232-232: K → KGDAPGPRGEAGGQAEAE

Note: No experimental confirmation available.
Show »
Length:440
Mass (Da):47,064
Checksum:i48145CC1D99F2B72
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti249E → K in AAC50896 (PubMed:8968090).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_061088116I → M.Corresponds to variant rs2384572dbSNPEnsembl.1
Natural variantiVAR_047648212A → V.Corresponds to variant rs11893478dbSNPEnsembl.1
Natural variantiVAR_047649232K → N.Corresponds to variant rs11889831dbSNPEnsembl.1
Natural variantiVAR_047650243G → E.1 PublicationCorresponds to variant rs1057389dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0465051 – 96Missing in isoform 3. 1 PublicationAdd BLAST96
Alternative sequenceiVSP_0465041M → MNGLKEVRYACAVLLWAPWH LVGSKGMGRGVGMRPQLCFR HSRPAFMCFIYKSWSDIYFE HSSMGSLLSVCESSLSRSPV FGAAGRSRQKMRLCLTQPIC DTVADASFPRPLILFLVPVP GRM in isoform 5. Curated1
Alternative sequenceiVSP_045389115 – 132VILIV…LNGDG → GNLDARLDGGEKAMQPQW in isoform 2. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_045390133 – 301Missing in isoform 2. 1 PublicationAdd BLAST169
Alternative sequenceiVSP_046506149 – 301HVEPG…ENDEI → PYPPYIGVGPNSNMCSRSDL PEDSNTLYPGSHLWLRHALN SKGNLDARLDGGEKAMQPQW in isoform 3. 1 PublicationAdd BLAST153
Alternative sequenceiVSP_046507232K → KGDAPGPRGEAGGQAEAE in isoform 5. Curated1
Alternative sequenceiVSP_046508261G → GQAEAEGDAPGPRGEAGG in isoform 4. Curated1

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.
AC013403 Genomic DNA. Translation: AAX93168.1.
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]
UniGeneiHs.159525.

Genome annotation databases

EnsembliENST00000260595; ENSP00000260595; ENSG00000138028. [Q99674-1]
ENST00000312734; ENSP00000324025; ENSG00000138028. [Q99674-4]
ENST00000402394; ENSP00000385452; ENSG00000138028. [Q99674-4]
ENST00000402550; ENSP00000385103; ENSG00000138028. [Q99674-2]
ENST00000404694; ENSP00000385574; ENSG00000138028. [Q99674-5]
ENST00000405600; ENSP00000386113; ENSG00000138028. [Q99674-4]
GeneIDi10669.
KEGGihsa:10669.
UCSCiuc002riq.4. human. [Q99674-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
AC013403 Genomic DNA. Translation: AAX93168.1.
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]
UniGeneiHs.159525.

3D structure databases

ProteinModelPortaliQ99674.
ModBaseiSearch...
MobiDBiSearch...

PTM databases

iPTMnetiQ99674.
PhosphoSitePlusiQ99674.

Polymorphism and mutation databases

BioMutaiCGREF1.
DMDMi215273950.

Proteomic databases

EPDiQ99674.
MaxQBiQ99674.
PeptideAtlasiQ99674.
PRIDEiQ99674.

Protocols and materials databases

DNASUi10669.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000260595; ENSP00000260595; ENSG00000138028. [Q99674-1]
ENST00000312734; ENSP00000324025; ENSG00000138028. [Q99674-4]
ENST00000402394; ENSP00000385452; ENSG00000138028. [Q99674-4]
ENST00000402550; ENSP00000385103; ENSG00000138028. [Q99674-2]
ENST00000404694; ENSP00000385574; ENSG00000138028. [Q99674-5]
ENST00000405600; ENSP00000386113; ENSG00000138028. [Q99674-4]
GeneIDi10669.
KEGGihsa:10669.
UCSCiuc002riq.4. human. [Q99674-1]

Organism-specific databases

CTDi10669.
GeneCardsiCGREF1.
H-InvDBHIX0023996.
HGNCiHGNC:16962. CGREF1.
HPAiHPA008241.
MIMi606137. gene.
neXtProtiNX_Q99674.
OpenTargetsiENSG00000138028.
PharmGKBiPA134984105.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00390000011906.
HOGENOMiHOG000074093.
HOVERGENiHBG050931.
InParanoidiQ99674.
OMAiFEVHSIQ.
OrthoDBiEOG091G0GOP.
PhylomeDBiQ99674.
TreeFamiTF315801.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000138028-MONOMER.

Miscellaneous databases

GenomeRNAii10669.
PROiQ99674.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000138028.
CleanExiHS_CGREF1.
ExpressionAtlasiQ99674. baseline and differential.
GenevisibleiQ99674. HS.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
[Graphical view]
PfamiPF13499. EF-hand_7. 1 hit.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS00018. EF_HAND_1. 2 hits.
PS50222. EF_HAND_2. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCGRE1_HUMAN
AccessioniPrimary (citable) accession number: Q99674
Secondary accession number(s): A6NHV7
, B4DXY8, B5MCB7, B5MCC9, B5MCP5, E7EU99, Q8N4B7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: November 25, 2008
Last modified: November 2, 2016
This is version 136 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.