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PSMC3IP PSMC3 interacting protein [ Homo sapiens (human) ]

Gene ID: 29893, updated on 5-Aug-2018

Summary

Official Symbol
PSMC3IPprovided by HGNC
Official Full Name
PSMC3 interacting proteinprovided by HGNC
Primary source
HGNC:HGNC:17928
See related
Ensembl:ENSG00000131470 MIM:608665; Vega:OTTHUMG00000180247
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HOP2; ODG3; GT198; TBPIP; HUMGT198A
Summary
This gene encodes a protein that functions in meiotic recombination. It is a subunit of the PSMC3IP/MND1 complex, which interacts with PSMC3/TBP1 to stimulate DMC1- and RAD51-mediated strand exchange during meiosis. The protein encoded by this gene can also co-activate ligand-driven transcription mediated by estrogen, androgen, glucocorticoid, progesterone, and thyroid nuclear receptors. Mutations in this gene cause XX female gonadal dysgenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2011]
Expression
Ubiquitous expression in duodenum (RPKM 12.8), small intestine (RPKM 12.7) and 25 other tissues See more
Orthologs

Genomic context

See PSMC3IP in Genome Data Viewer
Location:
17q21.2
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (42572310..42577831, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40724328..40729849, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene HSD17B1 promoter Neighboring gene uncharacterized LOC108783654 Neighboring gene hydroxysteroid 17-beta dehydrogenase 1 Neighboring gene Coenzyme A synthase Neighboring gene MLX, MAX dimerization protein Neighboring gene reticulophagy regulator family member 3 Neighboring gene tubulin gamma 1 Neighboring gene ATP synthase membrane subunit g pseudogene 7

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat TBPIP is a cellular protein that interacts with Tat-binding protein-1 (TBP-1) and enhances the inhibitory action of TBP-1 on Tat-mediated transactivation of the HIV-1 LTR promoter PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Androgen receptor signaling pathway, organism-specific biosystem (from WikiPathways)
    Androgen receptor signaling pathway, organism-specific biosystemAndrogens, mainly testosterone and 5alpha-dihydrotestosterone (DHT) play significant role in the growth and development of the male reproductive organs. These steroid hormones bring about their biolo...
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Meiosis, organism-specific biosystem (from REACTOME)
    Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
  • Meiotic recombination, organism-specific biosystem (from REACTOME)
    Meiotic recombination, organism-specific biosystemMeiotic recombination exchanges segments of duplex DNA between chromosomal homologs, generating genetic diversity (reviewed in Handel and Schimenti 2010, Inagaki et al. 2010, Cohen et al. 2006). Ther...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
nuclear receptor transcription coactivator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
positive regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
reciprocal meiotic recombination IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
homologous-pairing protein 2 homolog
Names
DBD-interacting
TBP-1-interacting protein
nuclear receptor coactivator GT198
proteasome 26S ATPase subunit 3-interacting protein
tat-binding protein 1-interacting protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_031960.1 RefSeqGene

    Range
    5001..10522
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001256014.1NP_001242943.1  homologous-pairing protein 2 homolog isoform 3

    See identical proteins and their annotated locations for NP_001242943.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3, also known as GT198a) differs in the 5' UTR and uses an in-frame downstream start codon, compared to variant 2. The encoded isoform (3) is shorter at the N-terminus, compared to isoform 2.
    Source sequence(s)
    BC008792, BQ186038, DB494067, GQ851964
    Consensus CDS
    CCDS59289.1
    UniProtKB/Swiss-Prot
    Q9P2W1
    UniProtKB/TrEMBL
    K7ERB6
    Related
    ENSP00000468188.1, OTTHUMP00000263751, ENST00000587209.5, OTTHUMT00000450429
    Conserved Domains (1) summary
    pfam07106
    Location:1118
    TBPIP; Tat binding protein 1(TBP-1)-interacting protein (TBPIP)
  2. NM_001256015.1NP_001242944.1  homologous-pairing protein 2 homolog isoform 4

    See identical proteins and their annotated locations for NP_001242944.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in an internal exon, and thus differs in its 5' UTR and uses a downstream in-frame start codon, compared to variant 2. The encoded isoform (4) is shorter at the N-terminus, compared to isoform 2. Both variants 4 and 5 encode isoform 4.
    Source sequence(s)
    BC008792, BQ186038, FJ952182
    UniProtKB/Swiss-Prot
    Q9P2W1
    Conserved Domains (1) summary
    pfam07106
    Location:1102
    TBPIP; Tat binding protein 1(TBP-1)-interacting protein (TBPIP)
  3. NM_001256016.1NP_001242945.1  homologous-pairing protein 2 homolog isoform 4

    See identical proteins and their annotated locations for NP_001242945.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an additional internal exon, and thus differs in its 5' UTR and uses an in-frame downstream start codon, compared to variant 2. The encoded isoform (4) is shorter at the N-terminus, compared to isoform 2. Both variants 4 and 5 encode isoform 4.
    Source sequence(s)
    BC008792, BI115923, BQ186038
    UniProtKB/Swiss-Prot
    Q9P2W1
    Conserved Domains (1) summary
    pfam07106
    Location:1102
    TBPIP; Tat binding protein 1(TBP-1)-interacting protein (TBPIP)
  4. NM_013290.6NP_037422.2  homologous-pairing protein 2 homolog isoform 1

    See identical proteins and their annotated locations for NP_037422.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses an alternate in-frame splice site in the central coding region, compared to variant 2, resulting in an isoform (1) that is shorter than isoform 2.
    Source sequence(s)
    BC008792, BQ186038
    Consensus CDS
    CCDS11431.1
    UniProtKB/Swiss-Prot
    Q9P2W1
    Related
    ENSP00000253789.4, OTTHUMP00000263750, ENST00000253789.9, OTTHUMT00000450428
    Conserved Domains (1) summary
    pfam07106
    Location:16169
    TBPIP; Tat binding protein 1(TBP-1)-interacting protein (TBPIP)
  5. NM_016556.3NP_057640.1  homologous-pairing protein 2 homolog isoform 2

    See identical proteins and their annotated locations for NP_057640.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes the longest isoform (2).
    Source sequence(s)
    BC008792, BQ186038, FJ952179
    Consensus CDS
    CCDS45688.1
    UniProtKB/Swiss-Prot
    Q9P2W1
    UniProtKB/TrEMBL
    A0A158RUX1
    Related
    ENSP00000377384.2, OTTHUMP00000263749, ENST00000393795.7, OTTHUMT00000450427
    Conserved Domains (1) summary
    pfam07106
    Location:16181
    TBPIP; Tat binding protein 1(TBP-1)-interacting protein (TBPIP)

RNA

  1. NR_045669.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses an alternate splice site in the central region, compared to variant 2. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC008792, BQ186038, FJ952181
  2. NR_045670.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) uses an alternate splice site in the central region, compared to variant 2. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC008792, BQ186038, FJ952183
  3. NR_045671.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8, also known as GT198a-4) includes an alternate 5' end and uses an alternate splice site in the central region, compared to variant 2. This variant is represented as non-coding because the longest in-frame ORF does not meet RefSeq quality criteria for protein representation, and it is preceded by upstream ORFs that may interfere with its translation.
    Source sequence(s)
    BC008792, BQ186038, DB494067, GQ851965

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    42572310..42577831 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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