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Q9NZI5

- GRHL1_HUMAN

UniProt

Q9NZI5 - GRHL1_HUMAN

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
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    • History
      Entry version 90 (01 Oct 2014)
      Sequence version 2 (21 Mar 2006)
      Previous versions | rss
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    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

    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

    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

    ArrayExpressiQ9NZI5.
    BgeeiQ9NZI5.
    CleanExiHS_GRHL1.
    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.
    HOVERGENiHBG054154.
    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

    MTQEYDNKRP VLVLQNEALY PQRRSYTSED EAWKSFLENP LTAATKAMMS    50
    INGDEDSAAA LGLLYDYYKV PRERRSSTAK PEVEHPEPDH SKRNSIPIVT 100
    EQPLISAGEN RVQVLKNVPF NIVLPHGNQL GIDKRGHLTA PDTTVTVSIA 150
    TMPTHSIKTE TQPHGFAVGI PPAVYHPEPT ERVVVFDRNL NTDQFSSGAQ 200
    APNAQRRTPD STFSETFKEG VQEVFFPSDL SLRMPGMNSE DYVFDSVSGN 250
    NFEYTLEASK SLRQKPGDST MTYLNKGQFY PITLKEVSSS EGIHHPISKV 300
    RSVIMVVFAE DKSREDQLRH WKYWHSRQHT AKQRCIDIAD YKESFNTISN 350
    IEEIAYNAIS FTWDINDEAK VFISVNCLST DFSSQKGVKG LPLNIQVDTY 400
    SYNNRSNKPV HRAYCQIKVF CDKGAERKIR DEERKQSKRK VSDVKVPLLP 450
    SHKRMDITVF KPFIDLDTQP VLFIPDVHFA NLQRGTHVLP IASEELEGEG 500
    SVLKRGPYGT EDDFAVPPST KLARIEEPKR VLLYVRKESE EVFDALMLKT 550
    PSLKGLMEAI SDKYDVPHDK IGKIFKKCKK GILVNMDDNI VKHYSNEDTF 600
    QLQIEEAGGS YKLTLTEI 618
    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:
    EMBL
    GenBank
    DDBJ
    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]
    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:
    EMBL
    GenBank
    DDBJ
    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 ]
    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.
    HOVERGENi HBG054154.
    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

    ArrayExpressi Q9NZI5.
    Bgeei Q9NZI5.
    CleanExi HS_GRHL1.
    Genevestigatori Q9NZI5.

    Family and domain databases

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

    Publicationsi

    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 1, 2014
    This is version 90 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