Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

O15347

- HMGB3_HUMAN

UniProt

O15347 - HMGB3_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

High mobility group protein B3

Gene

HMGB3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

Binds preferentially single-stranded DNA and unwinds double-stranded DNA.By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi9 – 7971HMG box 1PROSITE-ProRule annotationAdd
BLAST
DNA bindingi93 – 16169HMG box 2PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. DNA binding, bending Source: UniProtKB
  2. double-stranded DNA binding Source: UniProtKB
  3. poly(A) RNA binding Source: UniProtKB

GO - Biological processi

  1. DNA recombination Source: UniProtKB
  2. multicellular organismal development Source: ProtInc
Complete GO annotation...

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
High mobility group protein B3
Alternative name(s):
High mobility group protein 2a
Short name:
HMG-2a
High mobility group protein 4
Short name:
HMG-4
Gene namesi
Name:HMGB3
Synonyms:HMG2A, HMG4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:5004. HMGB3.

Subcellular locationi

Nucleus PROSITE-ProRule annotation. Chromosome By similarity

GO - Cellular componenti

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

Keywords - Cellular componenti

Chromosome, Nucleus

Pathology & Biotechi

Involvement in diseasei

Microphthalmia, syndromic, 13 (MCOPS13) [MIM:300915]: A form of microphthalmia, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS13 patients exhibit colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Microphthalmia

Organism-specific databases

MIMi300915. phenotype.
PharmGKBiPA35092.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 200200High mobility group protein B3PRO_0000048539Add
BLAST

Proteomic databases

MaxQBiO15347.
PaxDbiO15347.
PeptideAtlasiO15347.
PRIDEiO15347.

PTM databases

PhosphoSiteiO15347.

Expressioni

Tissue specificityi

Expressed predominantly in placenta.

Gene expression databases

BgeeiO15347.
CleanExiHS_HMGB3.
ExpressionAtlasiO15347. baseline and differential.
GenevestigatoriO15347.

Organism-specific databases

HPAiHPA062583.

Interactioni

Protein-protein interaction databases

BioGridi109392. 18 interactions.
IntActiO15347. 1 interaction.
MINTiMINT-5002211.
STRINGi9606.ENSP00000359393.

Structurei

Secondary structure

1
200
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi6 – 83Combined sources
Helixi15 – 3016Combined sources
Helixi38 – 5013Combined sources
Helixi54 – 7825Combined sources
Helixi99 – 11416Combined sources
Helixi120 – 13314Combined sources
Helixi136 – 16025Combined sources

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2EQZNMR-A1-79[»]
2YQINMR-A91-164[»]
ProteinModelPortaliO15347.
SMRiO15347. Positions 1-164.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO15347.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi181 – 20020Asp/Glu-rich (acidic)Add
BLAST

Sequence similaritiesi

Belongs to the HMGB family.Curated
Contains 2 HMG box DNA-binding domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiNOG320947.
GeneTreeiENSGT00760000119164.
HOGENOMiHOG000197861.
HOVERGENiHBG009000.
InParanoidiO15347.
KOiK11296.
OMAiNEKQPYN.
PhylomeDBiO15347.
TreeFamiTF105371.

Family and domain databases

Gene3Di1.10.30.10. 2 hits.
InterProiIPR009071. HMG_box_dom.
IPR017967. HMG_boxA_CS.
[Graphical view]
PfamiPF00505. HMG_box. 1 hit.
PF09011. HMG_box_2. 1 hit.
[Graphical view]
SMARTiSM00398. HMG. 2 hits.
[Graphical view]
SUPFAMiSSF47095. SSF47095. 2 hits.
PROSITEiPS00353. HMG_BOX_1. 1 hit.
PS50118. HMG_BOX_2. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O15347 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MAKGDPKKPK GKMSAYAFFV QTCREEHKKK NPEVPVNFAE FSKKCSERWK
60 70 80 90 100
TMSGKEKSKF DEMAKADKVR YDREMKDYGP AKGGKKKKDP NAPKRPPSGF
110 120 130 140 150
FLFCSEFRPK IKSTNPGISI GDVAKKLGEM WNNLNDSEKQ PYITKAAKLK
160 170 180 190 200
EKYEKDVADY KSKGKFDGAK GPAKVARKKV EEEDEEEEEE EEEEEEEEDE
Length:200
Mass (Da):22,980
Last modified:January 23, 2007 - v4
Checksum:i31C090FAA4D581E6
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti13 – 131M → T in CAA71143. (PubMed:9370291)Curated
Sequence conflicti52 – 521M → V in CAA71143. (PubMed:9370291)Curated
Sequence conflicti187 – 1871E → Q in CAA71143. (PubMed:9370291)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti51 – 511T → A.
Corresponds to variant rs16995792 [ dbSNP | Ensembl ].
VAR_049558
Natural varianti56 – 561E → Q.1 Publication
VAR_064162

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Y10043 mRNA. Translation: CAA71143.1.
AF003626 Genomic DNA. No translation available.
BC070482 mRNA. Translation: AAH70482.1.
CCDSiCCDS35428.1.
RefSeqiNP_005333.2. NM_005342.3.
UniGeneiHs.19114.

Genome annotation databases

EnsembliENST00000325307; ENSP00000359393; ENSG00000029993.
ENST00000448905; ENSP00000442758; ENSG00000029993.
GeneIDi3149.
KEGGihsa:3149.
UCSCiuc004fep.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Y10043 mRNA. Translation: CAA71143.1 .
AF003626 Genomic DNA. No translation available.
BC070482 mRNA. Translation: AAH70482.1 .
CCDSi CCDS35428.1.
RefSeqi NP_005333.2. NM_005342.3.
UniGenei Hs.19114.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2EQZ NMR - A 1-79 [» ]
2YQI NMR - A 91-164 [» ]
ProteinModelPortali O15347.
SMRi O15347. Positions 1-164.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109392. 18 interactions.
IntActi O15347. 1 interaction.
MINTi MINT-5002211.
STRINGi 9606.ENSP00000359393.

PTM databases

PhosphoSitei O15347.

Proteomic databases

MaxQBi O15347.
PaxDbi O15347.
PeptideAtlasi O15347.
PRIDEi O15347.

Protocols and materials databases

DNASUi 3149.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000325307 ; ENSP00000359393 ; ENSG00000029993 .
ENST00000448905 ; ENSP00000442758 ; ENSG00000029993 .
GeneIDi 3149.
KEGGi hsa:3149.
UCSCi uc004fep.3. human.

Organism-specific databases

CTDi 3149.
GeneCardsi GC0XP150148.
HGNCi HGNC:5004. HMGB3.
HPAi HPA062583.
MIMi 300193. gene.
300915. phenotype.
neXtProti NX_O15347.
PharmGKBi PA35092.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG320947.
GeneTreei ENSGT00760000119164.
HOGENOMi HOG000197861.
HOVERGENi HBG009000.
InParanoidi O15347.
KOi K11296.
OMAi NEKQPYN.
PhylomeDBi O15347.
TreeFami TF105371.

Miscellaneous databases

EvolutionaryTracei O15347.
GeneWikii HMGB3.
GenomeRNAii 3149.
NextBioi 12480.
PROi O15347.
SOURCEi Search...

Gene expression databases

Bgeei O15347.
CleanExi HS_HMGB3.
ExpressionAtlasi O15347. baseline and differential.
Genevestigatori O15347.

Family and domain databases

Gene3Di 1.10.30.10. 2 hits.
InterProi IPR009071. HMG_box_dom.
IPR017967. HMG_boxA_CS.
[Graphical view ]
Pfami PF00505. HMG_box. 1 hit.
PF09011. HMG_box_2. 1 hit.
[Graphical view ]
SMARTi SM00398. HMG. 2 hits.
[Graphical view ]
SUPFAMi SSF47095. SSF47095. 2 hits.
PROSITEi PS00353. HMG_BOX_1. 1 hit.
PS50118. HMG_BOX_2. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Isolation of human and mouse HMG2a cDNAs: evidence for an HMG2a-specific 3' untranslated region."
    Wilke K., Wiemann S., Gaul R., Gong W., Poustka A.
    Gene 198:269-274(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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].
    Tissue: Eye.
  4. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  5. "Solution structure of the first and second HMG-box domain from high mobility group protein B3."
    RIKEN structural genomics initiative (RSGI)
    Submitted (APR-2008) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 1-164.
  6. Cited for: VARIANT GLN-56.
  7. "Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing."
    Scott A.F., Mohr D.W., Kasch L.M., Barton J.A., Pittiglio R., Ingersoll R., Craig B., Marosy B.A., Doheny K.F., Bromley W.C., Roderick T.H., Chassaing N., Calvas P., Prabhu S.S., Jabs E.W.
    JAMA Ophthalmol. 0:0-0(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN MCOPS13.

Entry informationi

Entry nameiHMGB3_HUMAN
AccessioniPrimary (citable) accession number: O15347
Secondary accession number(s): O95556, Q6NS40
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 27, 2002
Last sequence update: January 23, 2007
Last modified: October 29, 2014
This is version 125 of the entry and version 4 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 X
    Human chromosome X: 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