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Entry version 118 (08 May 2019)
Sequence version 2 (26 Feb 2008)
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Protein

GREB1-like protein

Gene

GREB1L

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 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 a major role in early metanephros and genital development.1 Publication

<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

<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

Molecular functionDevelopmental protein

<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:
GREB1-like protein
Alternative name(s):
Growth regulation by estrogen in breast cancer 1-like protein
<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:GREB1L
Synonyms:C18orf6, KIAA1772
<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 18

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:31042 GREB1L

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
617782 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9C091

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei1843 – 1862HelicalSequence analysisAdd BLAST20

Keywords - Cellular componenti

Membrane

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Renal hypodysplasia/aplasia 3 (RHDA3)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe, autosomal dominant disease encompassing a spectrum of kidney development defects. Clinical manifestations are highly variable and include bilateral or unilateral renal agenesis, renal aplasia, hypoplasia, (cystic) dysplasia, severe obstructive uropathy, and vesicoureteral reflux. Bilateral renal agenesis is almost invariably fatal in utero or in the perinatal period. Unilateral renal agenesis can lead to future health issues including end-stage renal disease.
Related information in OMIM
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_08009113 – 1923Missing in RHDA3. 1 PublicationAdd BLAST1911
Natural variantiVAR_080092128R → H in RHDA3. 1 Publication1
Natural variantiVAR_080093192R → L in RHDA3. 1 Publication1
Natural variantiVAR_080095273G → V in RHDA3. 1 Publication1
Natural variantiVAR_080096328R → Q in RHDA3. 1 PublicationCorresponds to variant dbSNP:rs1311814599EnsemblClinVar.1
Natural variantiVAR_080097497A → G in RHDA3. 1 Publication1
Natural variantiVAR_080098594 – 1923Missing in RHDA3. 1 PublicationAdd BLAST1330
Natural variantiVAR_080099605S → R in RHDA3. 1 Publication1
Natural variantiVAR_080100716L → F in RHDA3. 1 Publication1
Natural variantiVAR_080101751R → C in RHDA3. 1 Publication1
Natural variantiVAR_080102751R → H in RHDA3. 1 PublicationCorresponds to variant dbSNP:rs1343579561Ensembl.1
Natural variantiVAR_080103761E → Q in RHDA3. 1 PublicationCorresponds to variant dbSNP:rs1465443065Ensembl.1
Natural variantiVAR_080105976 – 1923Missing in RHDA3. 1 PublicationAdd BLAST948
Natural variantiVAR_0801061066R → P in RHDA3; probable loss of function; does not rescue renal hypoplasia in zebrafish morphants. 1 PublicationCorresponds to variant dbSNP:rs766987038Ensembl.1
Natural variantiVAR_0801071099 – 1923Missing in RHDA3. 1 PublicationAdd BLAST825
Natural variantiVAR_0801081502M → T in RHDA3. 1 Publication1
Natural variantiVAR_0801091509D → V in RHDA3. 1 PublicationCorresponds to variant dbSNP:rs1336205837Ensembl.1
Natural variantiVAR_0801101536H → R in RHDA3. 1 Publication1
Natural variantiVAR_0801111549V → A in RHDA3. 1 Publication1
Natural variantiVAR_0801121558R → S in RHDA3. 1 PublicationCorresponds to variant dbSNP:rs1045574508Ensembl.1
Natural variantiVAR_0801131560 – 1923Missing in RHDA3. 1 PublicationAdd BLAST364
Natural variantiVAR_0801141567L → P in RHDA3; probable loss of function; does not rescue renal hypoplasia in zebrafish morphants. 1 Publication1
Natural variantiVAR_0801151576A → V in RHDA3. 1 Publication1
Natural variantiVAR_0801161615V → I in RHDA3. 1 PublicationCorresponds to variant dbSNP:rs1409376788Ensembl.1
Natural variantiVAR_0801171655I → T in RHDA3; probable loss of function; does not rescue renal hypoplasia in zebrafish morphants. 1 Publication1
Natural variantiVAR_0801181664Y → C in RHDA3. 1 Publication1
Natural variantiVAR_0801191690V → M in RHDA3; probable loss of function; does not rescue renal hypoplasia in zebrafish morphants. 1 Publication1
Natural variantiVAR_0801201775D → N in RHDA3. 1 Publication1
Natural variantiVAR_0801211793L → R in RHDA3. 1 Publication1
Natural variantiVAR_0801221884R → H in RHDA3. 1 PublicationCorresponds to variant dbSNP:rs1372640211Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
80000

MalaCards human disease database

More...
MalaCardsi
GREB1L
MIMi617805 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000141449

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
1848 Renal agenesis, bilateral
93100 Renal agenesis, unilateral

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA165429012

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GREB1L

Domain mapping of disease mutations (DMDM)

More...
DMDMi
172046226

<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_00003209461 – 1923GREB1-like proteinAdd BLAST1923

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9C091

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9C091

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9C091

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

More...
PaxDbi
Q9C091

PeptideAtlas

More...
PeptideAtlasi
Q9C091

PRoteomics IDEntifications database

More...
PRIDEi
Q9C091

ProteomicsDB human proteome resource

More...
ProteomicsDBi
79965
79966 [Q9C091-3]
79967 [Q9C091-4]

PTM databases

CarbonylDB database of protein carbonylation sites

More...
CarbonylDBi
Q9C091

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9C091

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

More...
PhosphoSitePlusi
Q9C091

<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 at high levels in fetal kidney (PubMed:29100091). In adult tissues, highest levels in vagina, cervix and epididymis (PubMed:29100091).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000141449 Expressed in 136 organ(s), highest expression level in buccal mucosa cell

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9C091 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9C091 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA041647
HPA044218

<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
123059, 6 interactors

Protein interaction database and analysis system

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IntActi
Q9C091, 2 interactors

Molecular INTeraction database

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MINTi
Q9C091

STRING: functional protein association networks

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STRINGi
9606.ENSP00000464162

<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

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 biasi1121 – 1206Ser-richAdd BLAST86

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the GREB1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IF9T Eukaryota
ENOG410Z1PN LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000008041

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000090251

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9C091

Identification of Orthologs from Complete Genome Data

More...
OMAi
AHNAFHH

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9C091

TreeFam database of animal gene trees

More...
TreeFami
TF329531

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR028422 GREB1
IPR024840 GREB1-like

The PANTHER Classification System

More...
PANTHERi
PTHR15720 PTHR15720, 1 hit
PTHR15720:SF12 PTHR15720:SF12, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15782 GREB1, 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_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 (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

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

Isoform 1 (identifier: Q9C091-1) [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
MGNSYAGQLK SARFEEALHN SIEASLRCSS VVPRPIFSQL YLDPDQHPFS
60 70 80 90 100
SADVKPKVED LDKDLVNRYT QNGSLDFSNN LTVNEMEDDE DDEEMSDSNS
110 120 130 140 150
PPIPYSQKPA PEGSCTTDGF CQAGKDLRLV SLCMEQIDIP AGFLLVGAKS
160 170 180 190 200
PNLPEHILVC AVDKRFLPDD HGKNALLGFS GNCIGCGERG FRYFTEFSNH
210 220 230 240 250
INLKLTTQPK KQKHLKYYLV RSSQGVLSKG PLICWKECRS RQSSASCHSI
260 270 280 290 300
KPSSSVSSTV TPENGTTNGY KSGFTQTDAA NGNSSHGGKG SASSSTPAHT
310 320 330 340 350
GNYSLSPRPS YASGDQATMF ISGPPKKRHR GWYPGSPLPQ PGLVVPVPTV
360 370 380 390 400
RPLSRTEPLL SAPVPQTPLT GILQPRPIPA GETVIVPENL LSNSGVRPVI
410 420 430 440 450
LIGYGTLPYF YGNVGDIVVS PLLVNCYKIP QLENKDLEKL GLTGSQFLSV
460 470 480 490 500
ENMILLTIQY LVRLGPDQVP LREEFEQIML KAMQEFTLRE RALQIGAQCV
510 520 530 540 550
PVSPGQLPWL ARLIASVSQD LVHVVVTQNS LAEGISETLR TLSEMRHYQR
560 570 580 590 600
LPDYVVVICA SKIRGNEFCV VVLGQHQSRA LAESMLTTSE FLKEISYELI
610 620 630 640 650
TGKVSFLASH FKTTSLGDDL DKLLEKMQQR RGDSVVTPFD GDLNECVSPQ
660 670 680 690 700
EAAAMIPTQN LDLDNETFHI YQPQLTVARK LLSQVCAIAD SGSQSLDLGH
710 720 730 740 750
FSKVDFIIIV PRSEVLVQQT LQRIRQSGVL VDLGLEENGT AHQRAEKYVV
760 770 780 790 800
RLDNEIQTKF EVFMRRVKQN PYTLFVLVHD NSHVELTSVI SGSLSHSEPS
810 820 830 840 850
HGLADRVINC REVLEAFNLL VLQVSSFPYT LQTQQSRISS SNEVHWIQLD
860 870 880 890 900
TGEDVGCEEK LYFGLSEYSK SLQWGITSPL LRCDETFEKM VNTLLERYPR
910 920 930 940 950
LHSMVVRCYL LIQQYSEALM ALTTMASLRD HSTPETLSIM DDLISSPGKN
960 970 980 990 1000
KSGRGHMLII RVPSVQLAML AKERLQEVRD KLGLQYRFEI ILGNPATELS
1010 1020 1030 1040 1050
VATHFVARLK SWRGNEPEEW IPRTYQDLDG LPCIVILTGK DPLGETFPRS
1060 1070 1080 1090 1100
LKYCDLRLID SSYLTRTALE QEVGLACCYV SKEVIRGPTV ALDLSGKEQE
1110 1120 1130 1140 1150
RAAVSENDSD ELLIDLERPQ SNSSAVTGTS GSIMENGVSS SSTADKSQKQ
1160 1170 1180 1190 1200
SLTPSFQSPA TSLGLDEGVS ASSAGAGAGE TLKQECDSLG PQMASSTTSK
1210 1220 1230 1240 1250
PSSSSSGPRT LPWPGQPIRG CRGPQAALPP VVILSKAAYS LLGSQKSGKL
1260 1270 1280 1290 1300
PSSSSLLPHA DVAWVSSLRP LLNKDMSSEE QSLYYRQWTL ARQHHADYSN
1310 1320 1330 1340 1350
QLDPASGTRN FHPRRLLLTG PPQVGKTGSY LQFLRILFRM LIRLLEVDVY
1360 1370 1380 1390 1400
DEEEINTDHN ESSEVSQSEG EPWPDIESFS KMPFDVSVHD PKYSLMSLVY
1410 1420 1430 1440 1450
TEKLAGVKQE VIKESKVEEP RKRETVSIML TKYAAYNTFH HCEQCRQYMD
1460 1470 1480 1490 1500
FTSASQMSDS TLHAFTFSSS MLGEEVQLYF IIPKSKESHF VFSKQGKHLE
1510 1520 1530 1540 1550
SMRLPLVSDK NLNAVKSPIF TPSSGRHEHG LLNLFHAMEG ISHLHLLVVK
1560 1570 1580 1590 1600
EYEMPLYRKY WPNHIMLVLP GMFNNAGVGA ARFLIKELSY HNLELERNRL
1610 1620 1630 1640 1650
EELGIKRQCV WPFIVMMDDS CVLWNIHSVQ EPSSQPMEVG VSSKNVSLKT
1660 1670 1680 1690 1700
VLQHIEATPK IVHYAILGIQ KWSSKLTSQS LKAPFSRCHV HDFILLNTDL
1710 1720 1730 1740 1750
TQNVQYDFNR YFCEDADFNL RTNSSGLLIC RFNNFSLMKK HVQVGGQRDF
1760 1770 1780 1790 1800
IIKPKIMVSE SLAPILPLQY ICAPDSEHTL LAAPAQFLLE KFLQHASYKL
1810 1820 1830 1840 1850
FPKAIHNFRS PVLAIDCYLN IGPEVAICYI SSRPHSSNVN CEGVFFSGLL
1860 1870 1880 1890 1900
LYLCDSFVGA DLKKFKFLKG ATLCVICQDR SSLRQTIVRL ELEDEWQFRL
1910 1920
RDEFQTANSS DDKPLYFLTG RHV
Length:1,923
Mass (Da):214,354
Last modified:February 26, 2008 - 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:iAE5EDD696A23DAFD
GO
Isoform 3 (identifier: Q9C091-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     466-574: Missing.

Note: No experimental confirmation available.
Show »
Length:1,814
Mass (Da):202,111
Checksum:i63E178E74148B56E
GO
Isoform 4 (identifier: Q9C091-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     729-747: VLVDLGLEENGTAHQRAEK → SSPGSHIAFSYVLFISCNL
     748-1923: Missing.

Note: No experimental confirmation available.
Show »
Length:747
Mass (Da):81,844
Checksum:iAF21625DAEA0433D
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
J3QQW0J3QQW0_HUMAN
GREB1-like protein
GREB1L
200Annotation 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>
J3QR03J3QR03_HUMAN
GREB1-like protein
GREB1L
175Annotation 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>
J3KRT4J3KRT4_HUMAN
GREB1-like protein
GREB1L
190Annotation 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 AAI25018 differs from that shown. Reason: Frameshift at position 591.Curated
The sequence BAB14666 differs from that shown. Reason: Frameshift at position 675.Curated
The sequence BAB14666 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated
The sequence BAB21863 differs from that shown. Probable cloning artifact. Spurious priming from an intronic poly-A tract.Curated
The sequence BAB21863 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.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 conflicti254S → F in AAI25018 (PubMed:15489334).Curated1
Sequence conflicti257S → V in AAI25018 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08009113 – 1923Missing in RHDA3. 1 PublicationAdd BLAST1911
Natural variantiVAR_080092128R → H in RHDA3. 1 Publication1
Natural variantiVAR_080093192R → L in RHDA3. 1 Publication1
Natural variantiVAR_080094241R → Q Able to rescue renal hypoplasia in zebrafish morphants. 1 PublicationCorresponds to variant dbSNP:rs147048716Ensembl.1
Natural variantiVAR_080095273G → V in RHDA3. 1 Publication1
Natural variantiVAR_080096328R → Q in RHDA3. 1 PublicationCorresponds to variant dbSNP:rs1311814599EnsemblClinVar.1
Natural variantiVAR_080097497A → G in RHDA3. 1 Publication1
Natural variantiVAR_080098594 – 1923Missing in RHDA3. 1 PublicationAdd BLAST1330
Natural variantiVAR_080099605S → R in RHDA3. 1 Publication1
Natural variantiVAR_080100716L → F in RHDA3. 1 Publication1
Natural variantiVAR_080101751R → C in RHDA3. 1 Publication1
Natural variantiVAR_080102751R → H in RHDA3. 1 PublicationCorresponds to variant dbSNP:rs1343579561Ensembl.1
Natural variantiVAR_080103761E → Q in RHDA3. 1 PublicationCorresponds to variant dbSNP:rs1465443065Ensembl.1
Natural variantiVAR_080104926A → V Able to rescue renal hypoplasia in zebrafish morphants. 1 PublicationCorresponds to variant dbSNP:rs569900756Ensembl.1
Natural variantiVAR_080105976 – 1923Missing in RHDA3. 1 PublicationAdd BLAST948
Natural variantiVAR_0801061066R → P in RHDA3; probable loss of function; does not rescue renal hypoplasia in zebrafish morphants. 1 PublicationCorresponds to variant dbSNP:rs766987038Ensembl.1
Natural variantiVAR_0801071099 – 1923Missing in RHDA3. 1 PublicationAdd BLAST825
Natural variantiVAR_0801081502M → T in RHDA3. 1 Publication1
Natural variantiVAR_0801091509D → V in RHDA3. 1 PublicationCorresponds to variant dbSNP:rs1336205837Ensembl.1
Natural variantiVAR_0801101536H → R in RHDA3. 1 Publication1
Natural variantiVAR_0801111549V → A in RHDA3. 1 Publication1
Natural variantiVAR_0801121558R → S in RHDA3. 1 PublicationCorresponds to variant dbSNP:rs1045574508Ensembl.1
Natural variantiVAR_0801131560 – 1923Missing in RHDA3. 1 PublicationAdd BLAST364
Natural variantiVAR_0801141567L → P in RHDA3; probable loss of function; does not rescue renal hypoplasia in zebrafish morphants. 1 Publication1
Natural variantiVAR_0801151576A → V in RHDA3. 1 Publication1
Natural variantiVAR_0801161615V → I in RHDA3. 1 PublicationCorresponds to variant dbSNP:rs1409376788Ensembl.1
Natural variantiVAR_0801171655I → T in RHDA3; probable loss of function; does not rescue renal hypoplasia in zebrafish morphants. 1 Publication1
Natural variantiVAR_0801181664Y → C in RHDA3. 1 Publication1
Natural variantiVAR_0801191690V → M in RHDA3; probable loss of function; does not rescue renal hypoplasia in zebrafish morphants. 1 Publication1
Natural variantiVAR_0801201775D → N in RHDA3. 1 Publication1
Natural variantiVAR_0801211793L → R in RHDA3. 1 Publication1
Natural variantiVAR_0801221884R → H in RHDA3. 1 PublicationCorresponds to variant dbSNP:rs1372640211Ensembl.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_031762466 – 574Missing in isoform 3. 1 PublicationAdd BLAST109
Alternative sequenceiVSP_031764729 – 747VLVDL…QRAEK → SSPGSHIAFSYVLFISCNL in isoform 4. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_031765748 – 1923Missing in isoform 4. 1 PublicationAdd BLAST1176

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK023749 mRNA Translation: BAB14666.1 Sequence problems.
AK309723 mRNA No translation available.
AC011774 Genomic DNA No translation available.
AC015878 Genomic DNA No translation available.
BC125017 mRNA Translation: AAI25018.1 Frameshift.
AB051559 mRNA Translation: BAB21863.1 Sequence problems.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS45836.1 [Q9C091-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001136438.1, NM_001142966.2 [Q9C091-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000269218; ENSP00000269218; ENSG00000141449 [Q9C091-3]
ENST00000424526; ENSP00000412060; ENSG00000141449 [Q9C091-1]
ENST00000580732; ENSP00000464162; ENSG00000141449 [Q9C091-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
80000

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:80000

UCSC genome browser

More...
UCSCi
uc010xam.2 human [Q9C091-1]

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
AK023749 mRNA Translation: BAB14666.1 Sequence problems.
AK309723 mRNA No translation available.
AC011774 Genomic DNA No translation available.
AC015878 Genomic DNA No translation available.
BC125017 mRNA Translation: AAI25018.1 Frameshift.
AB051559 mRNA Translation: BAB21863.1 Sequence problems.
CCDSiCCDS45836.1 [Q9C091-1]
RefSeqiNP_001136438.1, NM_001142966.2 [Q9C091-1]

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

BioGridi123059, 6 interactors
IntActiQ9C091, 2 interactors
MINTiQ9C091
STRINGi9606.ENSP00000464162

PTM databases

CarbonylDBiQ9C091
iPTMnetiQ9C091
PhosphoSitePlusiQ9C091

Polymorphism and mutation databases

BioMutaiGREB1L
DMDMi172046226

Proteomic databases

EPDiQ9C091
jPOSTiQ9C091
MaxQBiQ9C091
PaxDbiQ9C091
PeptideAtlasiQ9C091
PRIDEiQ9C091
ProteomicsDBi79965
79966 [Q9C091-3]
79967 [Q9C091-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000269218; ENSP00000269218; ENSG00000141449 [Q9C091-3]
ENST00000424526; ENSP00000412060; ENSG00000141449 [Q9C091-1]
ENST00000580732; ENSP00000464162; ENSG00000141449 [Q9C091-1]
GeneIDi80000
KEGGihsa:80000
UCSCiuc010xam.2 human [Q9C091-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
80000
DisGeNETi80000

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GREB1L

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0014356
HGNCiHGNC:31042 GREB1L
HPAiHPA041647
HPA044218
MalaCardsiGREB1L
MIMi617782 gene
617805 phenotype
neXtProtiNX_Q9C091
OpenTargetsiENSG00000141449
Orphaneti1848 Renal agenesis, bilateral
93100 Renal agenesis, unilateral
PharmGKBiPA165429012

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IF9T Eukaryota
ENOG410Z1PN LUCA
GeneTreeiENSGT00390000008041
HOGENOMiHOG000090251
InParanoidiQ9C091
OMAiAHNAFHH
PhylomeDBiQ9C091
TreeFamiTF329531

Miscellaneous databases

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

More...
ChiTaRSi
GREB1L human

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

More...
GenomeRNAii
80000

Protein Ontology

More...
PROi
PR:Q9C091

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000141449 Expressed in 136 organ(s), highest expression level in buccal mucosa cell
ExpressionAtlasiQ9C091 baseline and differential
GenevisibleiQ9C091 HS

Family and domain databases

InterProiView protein in InterPro
IPR028422 GREB1
IPR024840 GREB1-like
PANTHERiPTHR15720 PTHR15720, 1 hit
PTHR15720:SF12 PTHR15720:SF12, 1 hit
PfamiView protein in Pfam
PF15782 GREB1, 2 hits

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 nameiGRB1L_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: Q9C091
Secondary accession number(s): A4QN17, Q9H8F1
<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: February 26, 2008
Last sequence update: February 26, 2008
Last modified: May 8, 2019
This is version 118 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. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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