Q14549 (GBX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Homeobox protein GBX-1

Alternative name(s):
Gastrulation and brain-specific homeobox protein 1

Gene names

Name:

GBX1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	363 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Nucleus By similarity.
Sequence similarities	Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Domain	Homeobox
Ligand	DNA-binding
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nuclear chromosome Non-traceable author statement. Source: UniProtKB
Molecular_function	sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro sequence-specific DNA binding transcription factor activity Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 363

363

Homeobox protein GBX-1

PRO_0000048878

Regions

DNA binding

261 – 320

60

Homeobox

Compositional bias

5 – 22

18

Gly-rich

Compositional bias

33 – 179

147

Pro-rich

Compositional bias

60 – 133

74

Ala-rich

Natural variations

Natural variant

194

1

A → T.
Corresponds to variant rs11975799 [ dbSNP | Ensembl ].

VAR_049579

Secondary structure

1

.

.

.

.

.

.

.

.

.

363

Helix Strand Turn

Details...

Beta strand

264 – 268

5

Helix

270 – 282

13

Helix

288 – 297

10

Helix

302 – 320

19

Sequences

	Sequence		Length	Mass (Da)
	Q14549 [UniParc]. Last modified October 3, 2006. Version 2. Checksum: 738A37958DBD2E43	FASTA	363	37,629
	10 20 30 40 50 60 MQRAGGGSAP GGNGGGGGGG PGTAFSIDSL IGPPPPRSGH LLYTGYPMFM PYRPLVLPQA 70 80 90 100 110 120 LAPAPLPAGL PPLAPLASFA GRLTNTFCAG LGQAVPSMVA LTTALPSFAE PPDAFYGPQE 130 140 150 160 170 180 LAAAAAAAAA TAARNNPEPG GRRPEGGLEA DELLPAREKV AEPPPPPPPH FSETFPSLPA 190 200 210 220 230 240 EGKVYSSDEE KLEASAGDPA GSEQEEEGSG GDSEDDGFLD SSAGGPGALL GPKPKLKGSL 250 260 270 280 290 300 GTGAEEGAPV TAGVTAPGGK SRRRRTAFTS EQLLELEKEF HCKKYLSLTE RSQIAHALKL 310 320 330 340 350 360 SEVQVKIWFQ NRRAKWKRIK AGNVSSRSGE PVRNPKIVVP IPVHVNRFAV RSQHQQMEQG ARP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AC010973 Genomic DNA. No translation available.
L11239 Genomic DNA. Translation: AAA36002.1.

IPI

IPI00556582.

PIR

S32510.

RefSeq

NP_001092304.1. NM_001098834.1.

UniGene

Hs.647114.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2M34	NMR	-	A	256-325	[»]

ProteinModelPortal

Q14549.

ModBase

Search...

Protein-protein interaction databases

STRING

9606.ENSP00000297537.

PTM databases

PhosphoSite

Q14549.

Polymorphism databases

DMDM

115502392.

Proteomic databases

PaxDb

Q14549.

PRIDE

Q14549.

Protocols and materials databases

DNASU

2636.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000297537; ENSP00000297537; ENSG00000164900.

GeneID

2636.

KEGG

hsa:2636.

UCSC

uc011kvg.2. human.

Organism-specific databases

CTD

2636.

GeneCards

GC07M150845.

HGNC

HGNC:4185. GBX1.

HPA

HPA055783.

MIM

603354. gene.

neXtProt

NX_Q14549.

PharmGKB

PA28599.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG315879.

HOGENOM

HOG000060099.

HOVERGEN

HBG003967.

InParanoid

Q14549.

KO

K09321.

OMA

RQESPHS.

OrthoDB

EOG4N5VXB.

Gene expression databases

ArrayExpress

Q14549.

Bgee

Q14549.

CleanEx

HS_GBX1.

Genevestigator

Q14549.

GermOnline

ENSG00000164900. Homo sapiens.

Family and domain databases

Gene3D

1.10.10.60. 1 hit.

InterPro

IPR017970. Homeobox_CS.
IPR020479. Homeobox_metazoa.
IPR001356. Homeodomain.
IPR009057. Homeodomain-like.
[Graphical view]

Pfam

PF00046. Homeobox. 1 hit.
[Graphical view]

PRINTS

PR00024. HOMEOBOX.

SMART

SM00389. HOX. 1 hit.
[Graphical view]

SUPFAM

SSF46689. Homeodomain_like. 1 hit.

PROSITE

PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

GenomeRNAi

2636.

NextBio

10392.

SOURCE

Search...

Entry information

Entry name

GBX1_HUMAN

Accession

Primary (citable) accession number: Q14549

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 11, 2001
Last sequence update:	October 3, 2006
Last modified:	May 1, 2013
This is version 105 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.