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Protein

GREB1-like protein

Gene

GREB1L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein

Names & Taxonomyi

Protein namesi
Recommended name:
GREB1-like protein
Alternative name(s):
Growth regulation by estrogen in breast cancer 1-like protein
Gene namesi
Name:GREB1L
Synonyms:C18orf6, KIAA1772
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000141449.14
HGNCiHGNC:31042 GREB1L
MIMi617782 gene
neXtProtiNX_Q9C091

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei1843 – 1862HelicalSequence analysisAdd BLAST20

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Defects in GREB1L are the cause of congenital kidney malformations, ranging form renal hypodysplasia to severe agenesis.1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiGREB1L
OpenTargetsiENSG00000141449
PharmGKBiPA165429012

Polymorphism and mutation databases

BioMutaiGREB1L
DMDMi172046226

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003209461 – 1923GREB1-like proteinAdd BLAST1923

Proteomic databases

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

PTM databases

CarbonylDBiQ9C091
iPTMnetiQ9C091
PhosphoSitePlusiQ9C091

Expressioni

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

BgeeiENSG00000141449
CleanExiHS_KIAA1772
ExpressionAtlasiQ9C091 baseline and differential
GenevisibleiQ9C091 HS

Organism-specific databases

HPAiHPA041647
HPA044218

Interactioni

Protein-protein interaction databases

BioGridi123059, 6 interactors

Structurei

3D structure databases

ProteinModelPortaliQ9C091
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1121 – 1206Ser-richAdd BLAST86

Sequence similaritiesi

Belongs to the GREB1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IF9T Eukaryota
ENOG410Z1PN LUCA
GeneTreeiENSGT00390000008041
HOGENOMiHOG000090251
HOVERGENiHBG107963
InParanoidiQ9C091
OMAiIVMMDDS
OrthoDBiEOG091G009I
PhylomeDBiQ9C091
TreeFamiTF329531

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

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9C091-1) [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
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
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

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
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 Probable disease-associated mutation found in a patient with multicystic dysplastic kidney. 1 PublicationAdd BLAST1911
Natural variantiVAR_080092128R → H Probable disease-associated mutation found in a patient with renal agenesis. 1 Publication1
Natural variantiVAR_080093192R → L Probable disease-associated mutation found in patients with renal agenesis. 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 Probable disease-associated mutation found in a patient with renal agenesis. 1 Publication1
Natural variantiVAR_080096328R → Q Probable disease-associated mutation found in a patient with renal agenesis. 1 Publication1
Natural variantiVAR_080097497A → G Probable disease-associated mutation found in a patient with renal agenesis. 1 Publication1
Natural variantiVAR_080098594 – 1923Missing Probable disease-associated mutation found in patients with renal agenesis. 1 PublicationAdd BLAST1330
Natural variantiVAR_080099605S → R Probable disease-associated mutation found in a patient with renal agenesis. 1 Publication1
Natural variantiVAR_080100716L → F Probable disease-associated mutation found in a patient with renal agenesis. 1 Publication1
Natural variantiVAR_080101751R → C Probable disease-associated mutation found in patients with renal agenesis. 1 Publication1
Natural variantiVAR_080102751R → H Probable disease-associated mutation found in a patient with renal agenesis. 1 Publication1
Natural variantiVAR_080103761E → Q Probable disease-associated mutation found in a patient with multicystic dysplastic kidney. 1 Publication1
Natural variantiVAR_080104926A → V Able to rescue renal hypoplasia in zebrafish morphants. 1 PublicationCorresponds to variant dbSNP:rs569900756Ensembl.1
Natural variantiVAR_080105976 – 1923Missing Probable disease-associated mutation found in patients with renal agenesis. 1 PublicationAdd BLAST948
Natural variantiVAR_0801061066R → P Probable disease-associated mutation found in a patient with renal agenesis; probable loss of function; does not rescue renal hypoplasia in zebrafish morphants. 1 Publication1
Natural variantiVAR_0801071099 – 1923Missing Probable disease-associated mutation found in a patient with multicystic dysplastic kidney. 1 PublicationAdd BLAST825
Natural variantiVAR_0801081502M → T Probable disease-associated mutation found in a patient with renal agenesis. 1 Publication1
Natural variantiVAR_0801091509D → V Probable disease-associated mutation found in a patient with renal agenesis. 1 Publication1
Natural variantiVAR_0801101536H → R Probable disease-associated mutation found in patients with renal agenesis. 1 Publication1
Natural variantiVAR_0801111549V → A Probable disease-associated mutation found in a patient with renal agenesis. 1 Publication1
Natural variantiVAR_0801121558R → S Probable disease-associated mutation found in a patient with renal agenesis. 1 Publication1
Natural variantiVAR_0801131560 – 1923Missing Probable disease-associated mutation found in a patient with renal agenesis. 1 PublicationAdd BLAST364
Natural variantiVAR_0801141567L → P Probable disease-associated mutation found in a patient with renal agenesis; probable loss of function; does not rescue renal hypoplasia in zebrafish morphants. 1 Publication1
Natural variantiVAR_0801151576A → V Probable disease-associated mutation found in a patient with renal agenesis. 1 Publication1
Natural variantiVAR_0801161615V → I Probable disease-associated mutation found in a patient with renal dysplasia. 1 Publication1
Natural variantiVAR_0801171655I → T Probable disease-associated mutation found in a patient with renal agenesis; probable loss of function; does not rescue renal hypoplasia in zebrafish morphants. 1 Publication1
Natural variantiVAR_0801181664Y → C Probable disease-associated mutation found in patients with renal agenesis. 1 Publication1
Natural variantiVAR_0801191690V → M Probable disease-associated mutation found in a patient with renal agenesis; probable loss of function; does not rescue renal hypoplasia in zebrafish morphants. 1 Publication1
Natural variantiVAR_0801201775D → N Probable disease-associated mutation found in a patient with renal agenesis. 1 Publication1
Natural variantiVAR_0801211793L → R Probable disease-associated mutation found in patients with renal agenesis. 1 Publication1
Natural variantiVAR_0801221884R → H Probable disease-associated mutation found in a patient with renal hypoplasia. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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]
UniGeneiHs.149020

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiGRB1L_HUMAN
AccessioniPrimary (citable) accession number: Q9C091
Secondary accession number(s): A4QN17, Q9H8F1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: February 26, 2008
Last modified: June 20, 2018
This is version 110 of the entry and version 2 of the sequence. See 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

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