GREB1L

Protein identityUniProt · HPA

UniProt accession

Q9C091

Gene

GREB1L

Ensembl

ENSG00000141449

Chromosome

18

Canonical length

1923 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Mitochondria

OverviewNCBI Gene

Acts upstream of or within kidney development. Predicted to be located in membrane. Implicated in autosomal dominant nonsyndromic deafness 80 and renal agenesis. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

1923 residues, UniProt reviewed canonical sequence.

>Q9C091|GREB1L
     1  MGNSYAGQLK SARFEEALHN SIEASLRCSS VVPRPIFSQL YLDPDQHPFS SADVKPKVED
    61  LDKDLVNRYT QNGSLDFSNN LTVNEMEDDE DDEEMSDSNS PPIPYSQKPA PEGSCTTDGF
   121  CQAGKDLRLV SLCMEQIDIP AGFLLVGAKS PNLPEHILVC AVDKRFLPDD HGKNALLGFS
   181  GNCIGCGERG FRYFTEFSNH INLKLTTQPK KQKHLKYYLV RSSQGVLSKG PLICWKECRS
   241  RQSSASCHSI KPSSSVSSTV TPENGTTNGY KSGFTQTDAA NGNSSHGGKG SASSSTPAHT
   301  GNYSLSPRPS YASGDQATMF ISGPPKKRHR GWYPGSPLPQ PGLVVPVPTV RPLSRTEPLL
   361  SAPVPQTPLT GILQPRPIPA GETVIVPENL LSNSGVRPVI LIGYGTLPYF YGNVGDIVVS
   421  PLLVNCYKIP QLENKDLEKL GLTGSQFLSV ENMILLTIQY LVRLGPDQVP LREEFEQIML
   481  KAMQEFTLRE RALQIGAQCV PVSPGQLPWL ARLIASVSQD LVHVVVTQNS LAEGISETLR
   541  TLSEMRHYQR LPDYVVVICA SKIRGNEFCV VVLGQHQSRA LAESMLTTSE FLKEISYELI
   601  TGKVSFLASH FKTTSLGDDL DKLLEKMQQR RGDSVVTPFD GDLNECVSPQ EAAAMIPTQN
   661  LDLDNETFHI YQPQLTVARK LLSQVCAIAD SGSQSLDLGH FSKVDFIIIV PRSEVLVQQT
   721  LQRIRQSGVL VDLGLEENGT AHQRAEKYVV RLDNEIQTKF EVFMRRVKQN PYTLFVLVHD
   781  NSHVELTSVI SGSLSHSEPS HGLADRVINC REVLEAFNLL VLQVSSFPYT LQTQQSRISS
   841  SNEVHWIQLD TGEDVGCEEK LYFGLSEYSK SLQWGITSPL LRCDETFEKM VNTLLERYPR
   901  LHSMVVRCYL LIQQYSEALM ALTTMASLRD HSTPETLSIM DDLISSPGKN KSGRGHMLII
   961  RVPSVQLAML AKERLQEVRD KLGLQYRFEI ILGNPATELS VATHFVARLK SWRGNEPEEW
  1021  IPRTYQDLDG LPCIVILTGK DPLGETFPRS LKYCDLRLID SSYLTRTALE QEVGLACCYV
  1081  SKEVIRGPTV ALDLSGKEQE RAAVSENDSD ELLIDLERPQ SNSSAVTGTS GSIMENGVSS
  1141  SSTADKSQKQ SLTPSFQSPA TSLGLDEGVS ASSAGAGAGE TLKQECDSLG PQMASSTTSK
  1201  PSSSSSGPRT LPWPGQPIRG CRGPQAALPP VVILSKAAYS LLGSQKSGKL PSSSSLLPHA
  1261  DVAWVSSLRP LLNKDMSSEE QSLYYRQWTL ARQHHADYSN QLDPASGTRN FHPRRLLLTG
  1321  PPQVGKTGSY LQFLRILFRM LIRLLEVDVY DEEEINTDHN ESSEVSQSEG EPWPDIESFS
  1381  KMPFDVSVHD PKYSLMSLVY TEKLAGVKQE VIKESKVEEP RKRETVSIML TKYAAYNTFH
  1441  HCEQCRQYMD FTSASQMSDS TLHAFTFSSS MLGEEVQLYF IIPKSKESHF VFSKQGKHLE
  1501  SMRLPLVSDK NLNAVKSPIF TPSSGRHEHG LLNLFHAMEG ISHLHLLVVK EYEMPLYRKY
  1561  WPNHIMLVLP GMFNNAGVGA ARFLIKELSY HNLELERNRL EELGIKRQCV WPFIVMMDDS
  1621  CVLWNIHSVQ EPSSQPMEVG VSSKNVSLKT VLQHIEATPK IVHYAILGIQ KWSSKLTSQS
  1681  LKAPFSRCHV HDFILLNTDL TQNVQYDFNR YFCEDADFNL RTNSSGLLIC RFNNFSLMKK
  1741  HVQVGGQRDF IIKPKIMVSE SLAPILPLQY ICAPDSEHTL LAAPAQFLLE KFLQHASYKL
  1801  FPKAIHNFRS PVLAIDCYLN IGPEVAICYI SSRPHSSNVN CEGVFFSGLL LYLCDSFVGA
  1861  DLKKFKFLKG ATLCVICQDR SSLRQTIVRL ELEDEWQFRL RDEFQTANSS DDKPLYFLTG
  1921  RHV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GREB1L can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Unknown

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.34

Highest tissue expression

8.3 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GREB1L.

Disease | AllUniProt

Conditions GREB1L is implicated in, by any mechanism.

• Renal hypodysplasia/aplasia 3 (RHDA3) MIM:617805
• Deafness, autosomal dominant, 80 (DFNA80) MIM:619274

Disease | GeneticClinVar

90 pathogenic / likely-pathogenic of 526 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Renal hypodysplasia/aplasia 3
• Hearing loss, autosomal dominant 80
• GREB1L-related disorder
• Mayer Rokitansky Kuster Hauser syndrome type 1
• Male infertility with azoospermia or oligozoospermia due to single gene mutation

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.08

gnomAD pLI

1

gnomAD missense Z

5.37

DepMap mean gene effect

-0.07

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• branching involved in ureteric bud morphogenesis
• cardiac muscle cell differentiation
• cardiac ventricle development
• embryonic heart tube development
• kidney development
• male genitalia development
• mesonephric duct development
• metanephros development
• morphogenesis of an epithelium
• outflow tract morphogenesis
• paramesonephric duct development
• retinoic acid receptor signaling pathway
• ribosome biogenesis
• uterus development

Cellular components

• membrane

Protein domainsUniProt · Pfam · InterPro

• GREB1
• GREB1, N-terminal domain
• GREB1-like, C-terminal domain
• GREB1-like, circularly permuted SF2 helicase domain
• GREB1-like, second domain
• TET-Associated Glycosyltransferase
• GREB1 N-terminal domain
• GREB1 C-terminal region
• GREB1, second domain
• TET-Associated Glycosyltransferase
• Circularly permuted SF2 helicase found in GREB1 proteins

KeywordsUniProt

• Deafness
• Developmental protein
• Membrane
• Non-syndromic deafness
• Transmembrane
• Transmembrane helix