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Q9NZI5

- GRHL1_HUMAN

UniProt

Q9NZI5 - GRHL1_HUMAN

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Protein

Grainyhead-like protein 1 homolog

Gene

GRHL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Transcription factor. Isoform 1 may function as an activator and isoform 2 as a repressor in tissues where both forms are expressed. May play a role in development. May be involved in epidermal differentiation (By similarity). Binds and transactivates the EN1 promoter.By similarity1 Publication

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW

GO - Biological processi

  1. cellular lipid metabolic process Source: Reactome
  2. multicellular organismal development Source: UniProtKB-KW
  3. regulation of transcription, DNA-templated Source: UniProtKB-KW
  4. small molecule metabolic process Source: Reactome
  5. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiREACT_116145. PPARA activates gene expression.

Names & Taxonomyi

Protein namesi
Recommended name:
Grainyhead-like protein 1 homolog
Alternative name(s):
Mammalian grainyhead
NH32
Transcription factor CP2-like 2
Transcription factor LBP-32
Gene namesi
Name:GRHL1
Synonyms:LBP32, MGR, TFCP2L2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:17923. GRHL1.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. Golgi apparatus Source: HPA
  3. intracellular membrane-bounded organelle Source: HPA
  4. nucleoplasm Source: Reactome
  5. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134971477.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 618618Grainyhead-like protein 1 homologPRO_0000227990Add
BLAST

Proteomic databases

MaxQBiQ9NZI5.
PaxDbiQ9NZI5.
PRIDEiQ9NZI5.

PTM databases

PhosphoSiteiQ9NZI5.

Expressioni

Tissue specificityi

Isoform 1 is highly expressed in brain, pancreas, tonsil, placenta and kidney. Isoform 2 is highly expressed in brain and liver. Highly expressed in placental JEG-3 cells and at very low levels in non-steroidogenic cells. No expression detected in adrenal NCI-H295A cells.2 Publications

Developmental stagei

Expressed in fetal liver and brain.1 Publication

Gene expression databases

BgeeiQ9NZI5.
CleanExiHS_GRHL1.
ExpressionAtlasiQ9NZI5. baseline and differential.
GenevestigatoriQ9NZI5.

Organism-specific databases

HPAiHPA005798.
HPA006420.

Interactioni

Subunit structurei

Homodimer, also forms heterodimers with GRHL2 or GRHL3.

Protein-protein interaction databases

BioGridi118928. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ9NZI5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 9393Transcription activationAdd
BLAST

Sequence similaritiesi

Belongs to the grh/CP2 family. Grainyhead subfamily.Curated

Phylogenomic databases

eggNOGiNOG241458.
GeneTreeiENSGT00760000119235.
HOVERGENiHBG054154.
InParanoidiQ9NZI5.
KOiK09275.
OrthoDBiEOG7GBFWJ.
PhylomeDBiQ9NZI5.
TreeFamiTF314132.

Family and domain databases

InterProiIPR007604. CP2.
[Graphical view]
PfamiPF04516. CP2. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9NZI5-1) [UniParc]FASTAAdd to Basket

Also known as: p70 MGR

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
MTQEYDNKRP VLVLQNEALY PQRRSYTSED EAWKSFLENP LTAATKAMMS
60 70 80 90 100
INGDEDSAAA LGLLYDYYKV PRERRSSTAK PEVEHPEPDH SKRNSIPIVT
110 120 130 140 150
EQPLISAGEN RVQVLKNVPF NIVLPHGNQL GIDKRGHLTA PDTTVTVSIA
160 170 180 190 200
TMPTHSIKTE TQPHGFAVGI PPAVYHPEPT ERVVVFDRNL NTDQFSSGAQ
210 220 230 240 250
APNAQRRTPD STFSETFKEG VQEVFFPSDL SLRMPGMNSE DYVFDSVSGN
260 270 280 290 300
NFEYTLEASK SLRQKPGDST MTYLNKGQFY PITLKEVSSS EGIHHPISKV
310 320 330 340 350
RSVIMVVFAE DKSREDQLRH WKYWHSRQHT AKQRCIDIAD YKESFNTISN
360 370 380 390 400
IEEIAYNAIS FTWDINDEAK VFISVNCLST DFSSQKGVKG LPLNIQVDTY
410 420 430 440 450
SYNNRSNKPV HRAYCQIKVF CDKGAERKIR DEERKQSKRK VSDVKVPLLP
460 470 480 490 500
SHKRMDITVF KPFIDLDTQP VLFIPDVHFA NLQRGTHVLP IASEELEGEG
510 520 530 540 550
SVLKRGPYGT EDDFAVPPST KLARIEEPKR VLLYVRKESE EVFDALMLKT
560 570 580 590 600
PSLKGLMEAI SDKYDVPHDK IGKIFKKCKK GILVNMDDNI VKHYSNEDTF
610
QLQIEEAGGS YKLTLTEI
Length:618
Mass (Da):70,113
Last modified:March 21, 2006 - v2
Checksum:i449587B17F4A8A44
GO
Isoform 2 (identifier: Q9NZI5-2) [UniParc]FASTAAdd to Basket

Also known as: p49 MGR

The sequence of this isoform differs from the canonical sequence as follows:
     1-189: Missing.
     190-249: LNTDQFSSGA...EDYVFDSVSG → MASLWESPQQ...QRPSRKAFRR

Show »
Length:429
Mass (Da):49,182
Checksum:iF8E25E9798F820CE
GO
Isoform 3 (identifier: Q9NZI5-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     441-511: VSDVKVPLLP...VLKRGPYGTE → GKCPDPSSQF...LKNWRVKALS
     512-618: Missing.

Note: No experimental confirmation available.

Show »
Length:511
Mass (Da):57,813
Checksum:i5D3D2B24178DE94B
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti13 – 131V → A in AAF32276. (PubMed:10644752)Curated
Sequence conflicti230 – 2301L → F in AAH67521. (PubMed:15489334)Curated
Sequence conflicti351 – 3511I → V in AAH67519. (PubMed:15489334)Curated
Sequence conflicti424 – 4241G → A in AAH67521. (PubMed:15489334)Curated
Sequence conflicti582 – 5821I → V in AAH67520. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti191 – 1911N → S.1 Publication
Corresponds to variant rs16867256 [ dbSNP | Ensembl ].
VAR_025663
Natural varianti397 – 3971V → I.1 Publication
Corresponds to variant rs2303920 [ dbSNP | Ensembl ].
VAR_025664

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 189189Missing in isoform 2. 1 PublicationVSP_017636Add
BLAST
Alternative sequencei190 – 24960LNTDQ…DSVSG → MASLWESPQQCIILSPLSGW WFSIGISILTSSALVLKPQM LKGELQTRPSQRPSRKAFRR in isoform 2. 1 PublicationVSP_017637Add
BLAST
Alternative sequencei441 – 51171VSDVK…PYGTE → GKCPDPSSQFLMLKCHCFPL TSEWISQFSNPSLISILSLS SSFLTCTLPTCSGALMSFPL PLKNWRVKALS in isoform 3. 1 PublicationVSP_017638Add
BLAST
Alternative sequencei512 – 618107Missing in isoform 3. 1 PublicationVSP_017639Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF198489 mRNA. Translation: AAF32276.1.
AF411210 mRNA. Translation: AAM22616.1.
AK312950 mRNA. Translation: BAG35791.1.
AC010969 Genomic DNA. Translation: AAX93273.1.
CH471053 Genomic DNA. Translation: EAX00973.1.
BC067519 mRNA. Translation: AAH67519.1.
BC067520 mRNA. Translation: AAH67520.1.
BC067521 mRNA. Translation: AAH67521.1.
CCDSiCCDS33144.2. [Q9NZI5-1]
RefSeqiNP_937825.2. NM_198182.2. [Q9NZI5-1]
XP_005246216.1. XM_005246159.1. [Q9NZI5-2]
UniGeneiHs.418493.

Genome annotation databases

EnsembliENST00000324907; ENSP00000324693; ENSG00000134317. [Q9NZI5-1]
ENST00000405379; ENSP00000384209; ENSG00000134317. [Q9NZI5-2]
ENST00000472167; ENSP00000418275; ENSG00000134317. [Q9NZI5-3]
GeneIDi29841.
KEGGihsa:29841.
UCSCiuc002raa.3. human. [Q9NZI5-1]
uc002rad.3. human. [Q9NZI5-2]

Polymorphism databases

DMDMi90101332.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF198489 mRNA. Translation: AAF32276.1 .
AF411210 mRNA. Translation: AAM22616.1 .
AK312950 mRNA. Translation: BAG35791.1 .
AC010969 Genomic DNA. Translation: AAX93273.1 .
CH471053 Genomic DNA. Translation: EAX00973.1 .
BC067519 mRNA. Translation: AAH67519.1 .
BC067520 mRNA. Translation: AAH67520.1 .
BC067521 mRNA. Translation: AAH67521.1 .
CCDSi CCDS33144.2. [Q9NZI5-1 ]
RefSeqi NP_937825.2. NM_198182.2. [Q9NZI5-1 ]
XP_005246216.1. XM_005246159.1. [Q9NZI5-2 ]
UniGenei Hs.418493.

3D structure databases

ProteinModelPortali Q9NZI5.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 118928. 1 interaction.

PTM databases

PhosphoSitei Q9NZI5.

Polymorphism databases

DMDMi 90101332.

Proteomic databases

MaxQBi Q9NZI5.
PaxDbi Q9NZI5.
PRIDEi Q9NZI5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000324907 ; ENSP00000324693 ; ENSG00000134317 . [Q9NZI5-1 ]
ENST00000405379 ; ENSP00000384209 ; ENSG00000134317 . [Q9NZI5-2 ]
ENST00000472167 ; ENSP00000418275 ; ENSG00000134317 . [Q9NZI5-3 ]
GeneIDi 29841.
KEGGi hsa:29841.
UCSCi uc002raa.3. human. [Q9NZI5-1 ]
uc002rad.3. human. [Q9NZI5-2 ]

Organism-specific databases

CTDi 29841.
GeneCardsi GC02P010085.
H-InvDB HIX0029827.
HIX0029957.
HGNCi HGNC:17923. GRHL1.
HPAi HPA005798.
HPA006420.
MIMi 609786. gene.
neXtProti NX_Q9NZI5.
PharmGKBi PA134971477.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG241458.
GeneTreei ENSGT00760000119235.
HOVERGENi HBG054154.
InParanoidi Q9NZI5.
KOi K09275.
OrthoDBi EOG7GBFWJ.
PhylomeDBi Q9NZI5.
TreeFami TF314132.

Enzyme and pathway databases

Reactomei REACT_116145. PPARA activates gene expression.

Miscellaneous databases

ChiTaRSi GRHL1. human.
GenomeRNAii 29841.
NextBioi 52369.
PROi Q9NZI5.
SOURCEi Search...

Gene expression databases

Bgeei Q9NZI5.
CleanExi HS_GRHL1.
ExpressionAtlasi Q9NZI5. baseline and differential.
Genevestigatori Q9NZI5.

Family and domain databases

InterProi IPR007604. CP2.
[Graphical view ]
Pfami PF04516. CP2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning of factors related to HIV-inducible LBP proteins that regulate steroidogenic factor-1-independent human placental transcription of the cholesterol side-chain cleavage enzyme, P450scc."
    Huang N., Miller W.L.
    J. Biol. Chem. 275:2852-2858(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    Tissue: Placenta.
  2. "A highly conserved novel family of mammalian developmental transcription factors related to Drosophila grainyhead."
    Wilanowski T., Tuckfield A., Cerruti L., O'Connell S., Saint R., Parekh V., Tao J., Cunningham J.M., Jane S.M.
    Mech. Dev. 114:37-50(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, TISSUE SPECIFICITY, ALTERNATIVE SPLICING, DEVELOPMENTAL STAGE, INTERACTION WITH GRHL2.
    Tissue: Fetal brain.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Trachea.
  4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANTS SER-191 AND ILE-397.
  7. "The identification and characterization of human sister-of-mammalian grainyhead (SOM) expands the grainyhead-like family of developmental transcription factors."
    Ting S.B., Wilanowski T., Cerruti L., Zhao L.L., Cunningham J.M., Jane S.M.
    Biochem. J. 370:953-962(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH GRHL3.

Entry informationi

Entry nameiGRHL1_HUMAN
AccessioniPrimary (citable) accession number: Q9NZI5
Secondary accession number(s): A6NLA4
, B2R7E4, B5MEC2, Q53T93, Q6NWN7, Q6NWN8, Q6NWN9, Q8NI33
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: March 21, 2006
Last modified: October 29, 2014
This is version 91 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

External Data

Dasty 3