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Q14549

- GBX1_HUMAN

UniProt

Q14549 - GBX1_HUMAN

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Protein

Homeobox protein GBX-1

Gene

GBX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli

Functioni

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi261 – 32060HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. sequence-specific DNA binding Source: InterPro

GO - Biological processi

  1. adult walking behavior Source: Ensembl
  2. neuron fate commitment Source: Ensembl
  3. proprioception Source: Ensembl
  4. regulation of transcription, DNA-templated Source: UniProtKB-KW
  5. sensory neuron axon guidance Source: Ensembl
  6. spinal cord motor neuron differentiation Source: Ensembl
  7. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein GBX-1
Alternative name(s):
Gastrulation and brain-specific homeobox protein 1
Gene namesi
Name:GBX1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:4185. GBX1.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA28599.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 363363Homeobox protein GBX-1PRO_0000048878Add
BLAST

Proteomic databases

PaxDbiQ14549.
PRIDEiQ14549.

PTM databases

PhosphoSiteiQ14549.

Expressioni

Gene expression databases

BgeeiQ14549.
CleanExiHS_GBX1.
GenevestigatoriQ14549.

Organism-specific databases

HPAiHPA055783.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000297537.

Structurei

Secondary structure

1
363
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi264 – 2685Combined sources
Helixi270 – 28213Combined sources
Helixi288 – 29710Combined sources
Helixi302 – 32019Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2M34NMR-A256-325[»]
2ME0NMR-A256-325[»]
2ME6NMR-A256-325[»]
ProteinModelPortaliQ14549.
SMRiQ14549. Positions 255-325.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi5 – 2218Gly-richAdd
BLAST
Compositional biasi33 – 179147Pro-richAdd
BLAST
Compositional biasi60 – 13374Ala-richAdd
BLAST

Sequence similaritiesi

Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG315879.
GeneTreeiENSGT00760000119211.
HOGENOMiHOG000060099.
HOVERGENiHBG003967.
InParanoidiQ14549.
KOiK09321.
OMAiRARSEPC.
OrthoDBiEOG7D2FDK.
PhylomeDBiQ14549.
TreeFamiTF351530.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q14549-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MQRAGGGSAP GGNGGGGGGG PGTAFSIDSL IGPPPPRSGH LLYTGYPMFM
60 70 80 90 100
PYRPLVLPQA LAPAPLPAGL PPLAPLASFA GRLTNTFCAG LGQAVPSMVA
110 120 130 140 150
LTTALPSFAE PPDAFYGPQE LAAAAAAAAA TAARNNPEPG GRRPEGGLEA
160 170 180 190 200
DELLPAREKV AEPPPPPPPH FSETFPSLPA EGKVYSSDEE KLEASAGDPA
210 220 230 240 250
GSEQEEEGSG GDSEDDGFLD SSAGGPGALL GPKPKLKGSL GTGAEEGAPV
260 270 280 290 300
TAGVTAPGGK SRRRRTAFTS EQLLELEKEF HCKKYLSLTE RSQIAHALKL
310 320 330 340 350
SEVQVKIWFQ NRRAKWKRIK AGNVSSRSGE PVRNPKIVVP IPVHVNRFAV
360
RSQHQQMEQG ARP
Length:363
Mass (Da):37,629
Last modified:October 3, 2006 - v2
Checksum:i738A37958DBD2E43
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti194 – 1941A → T.
Corresponds to variant rs11975799 [ dbSNP | Ensembl ].
VAR_049579

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC010973 Genomic DNA. No translation available.
L11239 Genomic DNA. Translation: AAA36002.1.
CCDSiCCDS43682.1.
PIRiS32510.
RefSeqiNP_001092304.1. NM_001098834.2.

Genome annotation databases

EnsembliENST00000297537; ENSP00000297537; ENSG00000164900.
GeneIDi2636.
KEGGihsa:2636.
UCSCiuc011kvg.2. human.

Polymorphism databases

DMDMi115502392.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC010973 Genomic DNA. No translation available.
L11239 Genomic DNA. Translation: AAA36002.1 .
CCDSi CCDS43682.1.
PIRi S32510.
RefSeqi NP_001092304.1. NM_001098834.2.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2M34 NMR - A 256-325 [» ]
2ME0 NMR - A 256-325 [» ]
2ME6 NMR - A 256-325 [» ]
ProteinModelPortali Q14549.
SMRi Q14549. Positions 255-325.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000297537.

PTM databases

PhosphoSitei Q14549.

Polymorphism databases

DMDMi 115502392.

Proteomic databases

PaxDbi Q14549.
PRIDEi Q14549.

Protocols and materials databases

DNASUi 2636.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000297537 ; ENSP00000297537 ; ENSG00000164900 .
GeneIDi 2636.
KEGGi hsa:2636.
UCSCi uc011kvg.2. human.

Organism-specific databases

CTDi 2636.
GeneCardsi GC07M150845.
HGNCi HGNC:4185. GBX1.
HPAi HPA055783.
MIMi 603354. gene.
neXtProti NX_Q14549.
PharmGKBi PA28599.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG315879.
GeneTreei ENSGT00760000119211.
HOGENOMi HOG000060099.
HOVERGENi HBG003967.
InParanoidi Q14549.
KOi K09321.
OMAi RARSEPC.
OrthoDBi EOG7D2FDK.
PhylomeDBi Q14549.
TreeFami TF351530.

Miscellaneous databases

ChiTaRSi GBX1. human.
GenomeRNAii 2636.
NextBioi 10392.
PROi Q14549.
SOURCEi Search...

Gene expression databases

Bgeei Q14549.
CleanExi HS_GBX1.
Genevestigatori Q14549.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
[Graphical view ]
PRINTSi PR00024. HOMEOBOX.
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "Expression of a novel human homeobox-containing gene that maps to chromosome 7q36.1 in hematopoietic cells."
    Matsui T., Hirai M., Wakita M., Hirano M., Kurosawa Y.
    FEBS Lett. 322:181-185(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 225-363.
  3. "NMR structure of the homeodomain transcription factor GBX1 from Homo sapiens."
    Joint center for structural genomics (JCSG)
    Submitted (JAN-2013) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 256-325.

Entry informationi

Entry nameiGBX1_HUMAN
AccessioniPrimary (citable) accession number: Q14549
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: October 3, 2006
Last modified: November 26, 2014
This is version 119 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3