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Q9NZI5 (GRHL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Grainyhead-like protein 1 homolog
Alternative name(s):
Mammalian grainyhead
NH32
Transcription factor CP2-like 2
Transcription factor LBP-32
Gene names
Name:GRHL1
Synonyms:LBP32, MGR, TFCP2L2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length618 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.2

Subunit structure

Homodimer, also forms heterodimers with GRHL2 or GRHL3.

Subcellular location

Nucleus.

Tissue specificity

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. Ref.1 Ref.2

Developmental stage

Expressed in fetal liver and brain. Ref.2

Sequence similarities

Belongs to the grh/CP2 family. Grainyhead subfamily.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NZI5-1)

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.
Isoform 2 (identifier: Q9NZI5-2)

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
Isoform 3 (identifier: Q9NZI5-3)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 618618Grainyhead-like protein 1 homolog
PRO_0000227990

Regions

Region1 – 9393Transcription activation

Natural variations

Alternative sequence1 – 189189Missing in isoform 2.
VSP_017636
Alternative sequence190 – 24960LNTDQ…DSVSG → MASLWESPQQCIILSPLSGW WFSIGISILTSSALVLKPQM LKGELQTRPSQRPSRKAFRR in isoform 2.
VSP_017637
Alternative sequence441 – 51171VSDVK…PYGTE → GKCPDPSSQFLMLKCHCFPL TSEWISQFSNPSLISILSLS SSFLTCTLPTCSGALMSFPL PLKNWRVKALS in isoform 3.
VSP_017638
Alternative sequence512 – 618107Missing in isoform 3.
VSP_017639
Natural variant1911N → S. Ref.6
Corresponds to variant rs16867256 [ dbSNP | Ensembl ].
VAR_025663
Natural variant3971V → I. Ref.6
Corresponds to variant rs2303920 [ dbSNP | Ensembl ].
VAR_025664

Experimental info

Sequence conflict131V → A in AAF32276. Ref.1
Sequence conflict2301L → F in AAH67521. Ref.6
Sequence conflict3511I → V in AAH67519. Ref.6
Sequence conflict4241G → A in AAH67521. Ref.6
Sequence conflict5821I → V in AAH67520. Ref.6

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (p70 MGR) [UniParc].

Last modified March 21, 2006. Version 2.
Checksum: 449587B17F4A8A44

FASTA61870,113
        10         20         30         40         50         60 
MTQEYDNKRP VLVLQNEALY PQRRSYTSED EAWKSFLENP LTAATKAMMS INGDEDSAAA 

        70         80         90        100        110        120 
LGLLYDYYKV PRERRSSTAK PEVEHPEPDH SKRNSIPIVT EQPLISAGEN RVQVLKNVPF 

       130        140        150        160        170        180 
NIVLPHGNQL GIDKRGHLTA PDTTVTVSIA TMPTHSIKTE TQPHGFAVGI PPAVYHPEPT 

       190        200        210        220        230        240 
ERVVVFDRNL NTDQFSSGAQ APNAQRRTPD STFSETFKEG VQEVFFPSDL SLRMPGMNSE 

       250        260        270        280        290        300 
DYVFDSVSGN NFEYTLEASK SLRQKPGDST MTYLNKGQFY PITLKEVSSS EGIHHPISKV 

       310        320        330        340        350        360 
RSVIMVVFAE DKSREDQLRH WKYWHSRQHT AKQRCIDIAD YKESFNTISN IEEIAYNAIS 

       370        380        390        400        410        420 
FTWDINDEAK VFISVNCLST DFSSQKGVKG LPLNIQVDTY SYNNRSNKPV HRAYCQIKVF 

       430        440        450        460        470        480 
CDKGAERKIR DEERKQSKRK VSDVKVPLLP SHKRMDITVF KPFIDLDTQP VLFIPDVHFA 

       490        500        510        520        530        540 
NLQRGTHVLP IASEELEGEG SVLKRGPYGT EDDFAVPPST KLARIEEPKR VLLYVRKESE 

       550        560        570        580        590        600 
EVFDALMLKT PSLKGLMEAI SDKYDVPHDK IGKIFKKCKK GILVNMDDNI VKHYSNEDTF 

       610 
QLQIEEAGGS YKLTLTEI 

« Hide

Isoform 2 (p49 MGR) [UniParc].

Checksum: F8E25E9798F820CE
Show »

FASTA42949,182
Isoform 3 [UniParc].

Checksum: 5D3D2B24178DE94B
Show »

FASTA51157,813

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_937825.2. NM_198182.2.
XP_005246216.1. XM_005246159.1.
UniGeneHs.418493.

3D structure databases

ProteinModelPortalQ9NZI5.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid118928. 1 interaction.

PTM databases

PhosphoSiteQ9NZI5.

Polymorphism databases

DMDM90101332.

Proteomic databases

PaxDbQ9NZI5.
PRIDEQ9NZI5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000324883; ENSP00000324494; ENSG00000134317. [Q9NZI5-2]
ENST00000324907; ENSP00000324693; ENSG00000134317. [Q9NZI5-1]
ENST00000472167; ENSP00000418275; ENSG00000134317. [Q9NZI5-3]
GeneID29841.
KEGGhsa:29841.
UCSCuc002raa.3. human. [Q9NZI5-1]
uc002rad.3. human. [Q9NZI5-2]

Organism-specific databases

CTD29841.
GeneCardsGC02P010085.
H-InvDBHIX0029827.
HIX0029957.
HGNCHGNC:17923. GRHL1.
HPAHPA005798.
HPA006420.
MIM609786. gene.
neXtProtNX_Q9NZI5.
PharmGKBPA134971477.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG241458.
HOVERGENHBG054154.
KOK09275.
OrthoDBEOG7GBFWJ.
PhylomeDBQ9NZI5.
TreeFamTF314132.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.

Gene expression databases

ArrayExpressQ9NZI5.
BgeeQ9NZI5.
CleanExHS_GRHL1.
GenevestigatorQ9NZI5.

Family and domain databases

InterProIPR007604. CP2.
[Graphical view]
PfamPF04516. CP2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSGRHL1. human.
GenomeRNAi29841.
NextBio52369.
PROQ9NZI5.
SOURCESearch...

Entry information

Entry nameGRHL1_HUMAN
AccessionPrimary (citable) accession number: Q9NZI5
Secondary accession number(s): A6NLA4 expand/collapse secondary AC list , B2R7E4, B5MEC2, Q53T93, Q6NWN7, Q6NWN8, Q6NWN9, Q8NI33
Entry history
Integrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: March 21, 2006
Last modified: April 16, 2014
This is version 85 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM