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Q9P2W1 (HOP2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 86. 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:
Homologous-pairing protein 2 homolog
Alternative name(s):
Nuclear receptor coactivator GT198
PSMC3-interacting protein
Proteasome 26S ATPase subunit 3-interacting protein
Tat-binding protein 1-interacting protein
Short name=TBP-1-interacting protein
Gene names
Name:PSMC3IP
Synonyms:HOP2, TBPIP
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length217 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Plays an important role in meiotic recombination. Stimulates DMC1-mediated strand exchange required for pairing homologous chromosomes during meiosis. The complex PSMC3IP/MND1 binds DNA, stimulates the recombinase activity of DMC1 as well as DMC1 D-loop formation from double-strand DNA. This complex stabilizes presynaptic RAD51 and DMC1 filaments formed on single strand DNA to capture double-strand DNA. This complex stimulates both synaptic and presynaptic critical steps in RAD51 and DMC1-promoted homologous pairing. May inhibit HIV-1 viral protein TAT activity and modulate the activity of proteasomes through association with PSMC3. Acts as a tissue specific coactivator of hormone-dependent transcription mediated by nuclear receptors. Ref.2 Ref.7 Ref.9

Subunit structure

Interacts with the DNA-binding domain of the nuclear receptors NR3C1/GR, ESR2/ER-beta, THRB and RXRA By similarity. Forms a stable heterodimer with MND1. Interacts with PSMC3/TBP1. Ref.2 Ref.7

Subcellular location

Nucleus Ref.5.

Tissue specificity

Highly expressed in testis and colon. Ref.1 Ref.5

Induction

Overexpressed in leiomyomas compared to myometrium. Ref.8

Post-translational modification

PTM: Phosphorylated by PKA, PKC and MAPK By similarity.

Involvement in disease

Ovarian dysgenesis 3 (ODG3) [MIM:614324]: A disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9

Sequence similarities

Belongs to the HOP2 family.

Sequence caution

The sequence AAC41915.1 differs from that shown. Reason: Frameshift at positions 174 and 184.

Ontologies

Keywords
   Biological processDNA recombination
Meiosis
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
   DomainCoiled coil
   LigandDNA-binding
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processDNA recombination

Inferred from electronic annotation. Source: UniProtKB-KW

meiotic nuclear division

Inferred from electronic annotation. Source: UniProtKB-KW

regulation of RNA biosynthetic process

Inferred from mutant phenotype Ref.9. Source: GOC

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

ligand-dependent nuclear receptor transcription coactivator activity

Inferred from mutant phenotype Ref.9. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9P2W1-1)

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: Q9P2W1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     113-124: Missing.
Isoform 3 (identifier: Q9P2W1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-125: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 217217Homologous-pairing protein 2 homolog
PRO_0000314135

Regions

Region118 – 18265DNA binding By similarity
Coiled coil93 – 15361 Potential

Natural variations

Alternative sequence1 – 125125Missing in isoform 3.
VSP_047716
Alternative sequence113 – 12412Missing in isoform 2.
VSP_030213
Natural variant1631Y → N.
Corresponds to variant rs2292754 [ dbSNP | Ensembl ].
VAR_037841
Natural variant2011Missing in ODG3; impairs function as estrogen receptor coactivator. Ref.9
VAR_066636

Experimental info

Sequence conflict81Missing in AAC41915. Ref.1
Sequence conflict1061S → T in AAC41915. Ref.1
Sequence conflict1061S → T in AAL33609. Ref.5
Sequence conflict1841S → L in AAL33609. Ref.5

Sequences

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

Last modified October 1, 2000. Version 1.
Checksum: 892B7D20CAA0A121

FASTA21724,906
        10         20         30         40         50         60 
MSKGRAEAAA GAAGILLRYL QEQNRPYSSQ DVFGNLQREH GLGKAVVVKT LEQLAQQGKI 

        70         80         90        100        110        120 
KEKMYGKQKI YFADQDQFDM VSDADLQVLD GKIVALTAKV QSLQQSCRYM EAELKELSSA 

       130        140        150        160        170        180 
LTTPEMQKEI QELKKECAGY RERLKNIKAA TNHVTPEEKE QVYRERQKYC KEWRKRKRMA 

       190        200        210 
TELSDAILEG YPKSKKQFFE EVGIETDEDY NVTLPDP 

« Hide

Isoform 2 [UniParc].

Checksum: 19AD8471B6931FC1
Show »

FASTA20523,636
Isoform 3 [UniParc].

Checksum: ABBF9881ED662F38
Show »

FASTA9211,070

References

« Hide 'large scale' references
[1]"Generation of a transcription map at the HSD17B locus centromeric to BRCA1 at 17q21."
Rommens J.M., Durocher F., McArthur J., Tonin P., Leblanc J.-F., Allen T., Samson C., Ferri L., Narod S., Morgan K., Simard J.
Genomics 28:530-542(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
[2]"Molecular cloning and characterization of a human homologue of TBPIP, a BRCA1 locus-related gene."
Ijichi H., Tanaka T., Nakamura T., Yagi H., Hakuba A., Sato M.
Gene 248:99-107(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, INTERACTION WITH PSMC3.
[3]"Alternative splicing of GT198 in the BRCA1 locus."
Peng M., Ko L.
Submitted (AUG-2009) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), ALTERNATIVE SPLICING.
[4]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"Identification and characterization of a tissue-specific coactivator, GT198, that interacts with the DNA-binding domains of nuclear receptors."
Ko L., Cardona G.R., Henrion-Caude A., Chin W.W.
Mol. Cell. Biol. 22:357-369(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
[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] (ISOFORM 2).
Tissue: Uterus.
[7]"Stimulation of DNA strand exchange by the human TBPIP/Hop2-Mnd1 complex."
Enomoto R., Kinebuchi T., Sato M., Yagi H., Kurumizaka H., Yokoyama S.
J. Biol. Chem. 281:5575-5581(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH MND1, FUNCTION.
[8]"Genomic and proteomic profiling I: leiomyomas in African Americans and Caucasians."
Pan Q., Luo X., Chegini N.
Reprod. Biol. Endocrinol. 5:34-34(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INDUCTION.
[9]"XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription."
Zangen D., Kaufman Y., Zeligson S., Perlberg S., Fridman H., Kanaan M., Abdulhadi-Atwan M., Abu Libdeh A., Gussow A., Kisslov I., Carmel L., Renbaum P., Levy-Lahad E.
Am. J. Hum. Genet. 89:572-579(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, VARIANT ODG3 GLU-201 DEL, CHARACTERIZATION OF VARIANT ODG3 GLU-201 DEL.
[10]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
L38933 mRNA. Translation: AAC41915.1. Frameshift.
AB030304 mRNA. Translation: BAA92872.1.
AF440240 mRNA. Translation: AAL33609.1.
FJ952180 mRNA. Translation: ACR46655.1.
FJ952181 mRNA. Translation: ACR46656.1.
FJ952182 mRNA. Translation: ACR46657.1.
FJ952183 mRNA. Translation: ACR46658.1.
GQ851964 mRNA. Translation: ACX30903.1.
GQ851965 mRNA. Translation: ACX30904.1.
AC067852 Genomic DNA. No translation available.
BC008792 mRNA. Translation: AAH08792.1.
CCDSCCDS11431.1. [Q9P2W1-2]
CCDS45688.1. [Q9P2W1-1]
PIRI68521.
RefSeqNP_001242943.1. NM_001256014.1.
NP_001242944.1. NM_001256015.1.
NP_001242945.1. NM_001256016.1.
NP_037422.2. NM_013290.6. [Q9P2W1-2]
NP_057640.1. NM_016556.3. [Q9P2W1-1]
UniGeneHs.383019.

3D structure databases

ProteinModelPortalQ9P2W1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid118945. 2 interactions.
MINTMINT-4945099.
STRING9606.ENSP00000377384.

PTM databases

PhosphoSiteQ9P2W1.

Polymorphism databases

DMDM74719969.

Proteomic databases

MaxQBQ9P2W1.
PaxDbQ9P2W1.
PRIDEQ9P2W1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000253789; ENSP00000253789; ENSG00000131470. [Q9P2W1-2]
ENST00000393795; ENSP00000377384; ENSG00000131470. [Q9P2W1-1]
ENST00000590760; ENSP00000466381; ENSG00000131470. [Q9P2W1-3]
GeneID29893.
KEGGhsa:29893.
UCSCuc002iai.3. human. [Q9P2W1-1]
uc002iak.3. human. [Q9P2W1-2]

Organism-specific databases

CTD29893.
GeneCardsGC17M040733.
HGNCHGNC:17928. PSMC3IP.
HPAHPA044439.
MIM608665. gene.
614324. phenotype.
neXtProtNX_Q9P2W1.
Orphanet243. 46,XX gonadal dysgenesis.
PharmGKBPA143485584.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG274440.
HOGENOMHOG000005789.
HOVERGENHBG105257.
InParanoidQ9P2W1.
KOK06695.
OMADEDYNVK.
OrthoDBEOG7GJ6FN.
PhylomeDBQ9P2W1.
TreeFamTF328666.

Gene expression databases

ArrayExpressQ9P2W1.
BgeeQ9P2W1.
CleanExHS_PSMC3IP.
GenevestigatorQ9P2W1.

Family and domain databases

InterProIPR010776. TBPIP.
[Graphical view]
PANTHERPTHR15938. PTHR15938. 1 hit.
PfamPF07106. TBPIP. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi29893.
NextBio52446.
PROQ9P2W1.
SOURCESearch...

Entry information

Entry nameHOP2_HUMAN
AccessionPrimary (citable) accession number: Q9P2W1
Secondary accession number(s): C5ILB7 expand/collapse secondary AC list , Q14458, Q8WXG2, Q96HA2
Entry history
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: October 1, 2000
Last modified: July 9, 2014
This is version 86 of the entry and version 1 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 17

Human chromosome 17: entries, gene names and cross-references to MIM