Q9P2W1 (HOP2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

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	217 AA.
Sequence status	Complete.
Protein existence	Evidence 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.5 Ref.7
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.5
Subcellular location	Nucleus Ref.3.
Tissue specificity	Highly expressed in testis and colon. Ref.1 Ref.3
Induction	Overexpressed in leiomyomas compared to myometrium. Ref.6
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.7
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 process	DNA recombination Meiosis
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Domain	Coiled coil
Ligand	DNA-binding
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	DNA recombination Inferred from electronic annotation. Source: UniProtKB-KW meiosis Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW ligand-dependent nuclear receptor transcription coactivator activity Inferred from mutant phenotype Ref.7. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 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.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 217	217	Homologous-pairing protein 2 homolog		PRO_0000314135
Regions
	Region	118 – 182	65	DNA binding By similarity
	Coiled coil	93 – 153	61	Potential
Natural variations
	Alternative sequence	113 – 124	12	Missing in isoform 2.		VSP_030213
	Natural variant	163	1	Y → N. Corresponds to variant rs2292754 [ dbSNP | Ensembl ].		VAR_037841
	Natural variant	201	1	Missing in ODG3; impairs function as estrogen receptor coactivator. Ref.7		VAR_066636
Experimental info
	Sequence conflict	8	1	Missing in AAC41915. Ref.1
	Sequence conflict	106	1	S → T in AAC41915. Ref.1
	Sequence conflict	106	1	S → T in AAL33609. Ref.3
	Sequence conflict	184	1	S → L in AAL33609. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: 892B7D20CAA0A121	FASTA	217	24,906
	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
	Isoform 2 [UniParc]. Checksum: 19AD8471B6931FC1	FASTA	205	23,636
	10 20 30 40 50 60 MSKGRAEAAA GAAGILLRYL QEQNRPYSSQ DVFGNLQREH GLGKAVVVKT LEQLAQQGKI 70 80 90 100 110 120 KEKMYGKQKI YFADQDQFDM VSDADLQVLD GKIVALTAKV QSLQQSCRYM EAEMQKEIQE 130 140 150 160 170 180 LKKECAGYRE RLKNIKAATN HVTPEEKEQV YRERQKYCKE WRKRKRMATE LSDAILEGYP 190 200 KSKKQFFEEV GIETDEDYNV TLPDP

References

	« Hide 'large scale' referencesShow '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]	"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.
[4]	"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.
[5]	"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.
[6]	"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.
[7]	"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.
[8]	"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. BC008792 mRNA. Translation: AAH08792.1.
IPI	IPI00009805. IPI00335760.
PIR	I68521.
RefSeq	NP_001242943.1. NM_001256014.1. NP_001242944.1. NM_001256015.1. NP_001242945.1. NM_001256016.1. NP_037422.2. NM_013290.6. NP_057640.1. NM_016556.3.
UniGene	Hs.383019.
3D structure databases
ProteinModelPortal	Q9P2W1.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000377384.
PTM databases
PhosphoSite	Q9P2W1.
Polymorphism databases
DMDM	74719969.
Proteomic databases
PaxDb	Q9P2W1.
PRIDE	Q9P2W1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000253789; ENSP00000253789; ENSG00000131470. ENST00000393795; ENSP00000377384; ENSG00000131470.
GeneID	29893.
KEGG	hsa:29893.
UCSC	uc002iai.2. human. uc002iak.2. human.
Organism-specific databases
CTD	29893.
GeneCards	GC17M040725.
HGNC	HGNC:17928. PSMC3IP.
HPA	HPA044439.
MIM	608665. gene. 614324. phenotype.
neXtProt	NX_Q9P2W1.
Orphanet	243. 46,XX gonadal dysgenesis.
PharmGKB	PA143485584.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG274440.
HOGENOM	HOG000005789.
HOVERGEN	HBG105257.
InParanoid	Q9P2W1.
KO	K06695.
OMA	QEQNRPY.
Gene expression databases
ArrayExpress	Q9P2W1.
Bgee	Q9P2W1.
CleanEx	HS_PSMC3IP.
Genevestigator	Q9P2W1.
Family and domain databases
InterPro	IPR010776. TBPIP. [Graphical view]
PANTHER	PTHR15938. PTHR15938. 1 hit.
Pfam	PF07106. TBPIP. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	29893.
NextBio	52446.
SOURCE	Search...

Entry information

Entry name

HOP2_HUMAN

Accession

Primary (citable) accession number: Q9P2W1
Secondary accession number(s): Q14458, Q8WXG2, Q96HA2

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 15, 2008
Last sequence update:	October 1, 2000
Last modified:	May 1, 2013
This is version 75 of the entry and version 1 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.