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    PQBP1 polyglutamine binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 10084, updated on 5-May-2013
    Official Symbol
    PQBP1provided by HGNC
    Official Full Name
    polyglutamine binding protein 1provided by HGNC
    Primary source
    HGNC:9330
    Locus tag
    JM26
    See related
    Ensembl:ENSG00000102103; HPRD:02354; MIM:300463; Vega:OTTHUMG00000024128
    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
    SHS; MRX55; MRXS3; MRXS8; NPW38; RENS1
    Summary
    This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked mental retardation. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009]
    Location :
    Xp11.23
    Sequence :
    Chromosome: X; NC_000023.10 (48755195..48760422)
    See PQBP1 in Epigenomics, MapViewer

    Chromosome X - NC_000023.10Genomic Context describing neighboring genes Neighboring gene proprotein convertase subtilisin/kexin type 1 inhibitor Neighboring gene ES cell expressed Ras Neighboring gene translocase of inner mitochondrial membrane 17 homolog B (yeast) Neighboring gene solute carrier family 35 (UDP-galactose transporter), member A2 Neighboring gene pim-2 oncogene

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. A census of human soluble protein complexes. Havugimana PC, et al. Cell, 2012 Aug 31. PMID 22939629.
    2. A restricted level of PQBP1 is needed for the best longevity of Drosophila. Tamura T, et al. Neurobiol Aging, 2013 Jan. PMID 22901698.
    3. Proteomics strategy to identify substrates of LNX, a PDZ domain-containing E3 ubiquitin ligase. Guo Z, et al. J Proteome Res, 2012 Oct 5. PMID 22889411.
    4. Dynamic protein-protein interaction wiring of the human spliceosome. Hegele A, et al. Mol Cell, 2012 Feb 24. PMID 22365833.
    5. The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules. Kunde SA, et al. Hum Mol Genet, 2011 Dec 15. PMID 21933836.

    See all (45) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. The results of this study addressed that the relationship between gene dose and phenotype relationship of dPQBP1 and investigated the mechanism responsible for the lifespan shortening'
      Title: A restricted level of PQBP1 is needed for the best longevity of Drosophila.
    2. These data demonstrate a role for PQBP1 in the modulation of stress granules.
      Title: The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules.
    3. Data show that the PQBP1 mutation was found in 3 brothers with a phenotype comprising MR, short stature, lean body and microcephaly.
      Title: A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation.
    4. Evidence for a functional involvement of the four mutations affecting ATRX (p.1761M4T), PQBP1 (p.155R4X), and SLC6A8 (p.390P4L and p.477S4L), in the etiology of intellectual disability.
      Title: Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.
    5. Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning.
      Title: Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning.
    6. mutations in PQBP1 caused variable loss of cell adhesion from impaired vesicle trafficking disrupts the neuroepithelial lining or neuronal migration and underlies periventricular heterotopia formation
      Title: Mutation in PQBP1 is associated with periventricular heterotopia.
    7. frameshift mutations in the PQBP-1 gene lead to expression of mutants lacking the ability to interact with U5-15kD
      Title: Polyglutamine tract-binding protein-1 binds to U5-15kD via a continuous 23-residue segment of the C-terminal domain.
    8. Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing
      Title: Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing.
    9. An evaluation of X-linked mental retardation (XLMR) pathology of PQBP1 mutations demonstrated nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.
      Title: Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.
    10. Pathogenic frameshift mutations in PQBP1 are rare in mentally retarded patients lacking specific associated signs; the 21 bp in-frame deletions may be non-pathogenic, or alternatively could act subtly on PQBP1 function.
      Title: Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.
    Submit: New GeneRIF Correction See all (16)

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    O60828 P54253 ATXN1    HPRD  PubMed  
    O60828 Q9UKR5 C14orf1    HPRD  PubMed  
    O60828 P09497 CLTB    HPRD  PubMed  
    O60828 P68104 EEF1A1    HPRD  PubMed  
    O60828 Q5T3J3 LRIF1    HPRD  PubMed  
    O60828 Q9Y3C7 MED31    HPRD  PubMed  
    O60828 P24928 POLR2A    HPRD  PubMed  
    O60828 P20265 POU3F2    HPRD  PubMed  
    O60828 P61006 RAB8A    HPRD  PubMed  
    O60828 P35243 RCVRN    HPRD  PubMed  
    O60828 P83876 TXNL4A    HPRD  PubMed  
    O60828 Q9Y2W2 WBP11    HPRD  PubMed  
    BioGRID:115393 BioGRID:106819 APBB1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:115393 BioGRID:106848 APP    BioGRID  PubMed Reconstituted Complex 
    BioGRID:115393 BioGRID:115065 AQR    BioGRID  PubMed Two-hybrid 
    BioGRID:115393 BioGRID:112217 ATXN1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:115393 BioGRID:116332 C14orf1    BioGRID  PubMed Two-hybrid 
    BioGRID:115393 BioGRID:108237 EEF1A1    BioGRID  PubMed Two-hybrid 
    BioGRID:115393 BioGRID:109429 HNRNPH2    BioGRID  PubMed Two-hybrid 
    BioGRID:115393 BioGRID:115541 HRSP12    BioGRID  PubMed Co-fractionation 
    BioGRID:115393 BioGRID:109647 IDH3G    BioGRID  PubMed Co-fractionation 
    BioGRID:115393 BioGRID:124219 LNX1    BioGRID  PubMed Biochemical Activity; Two-hybrid 
    BioGRID:115393 BioGRID:120905 LRIF1    BioGRID  PubMed Two-hybrid 
    BioGRID:115393 BioGRID:119211 MED31    BioGRID  PubMed Two-hybrid 
    BioGRID:115393 BioGRID:125521 MRPL53    BioGRID  PubMed Co-fractionation 
    BioGRID:115393 BioGRID:118784 MRPS28    BioGRID  PubMed Co-fractionation 
    BioGRID:115393 BioGRID:110781 NDUFA7    BioGRID  PubMed Co-fractionation 
    BioGRID:115393 BioGRID:111426 POLR2A    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:115393 BioGRID:111450 POU3F2    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:115393 BioGRID:111872 RBMS1    BioGRID  PubMed Co-fractionation 
    BioGRID:115393 BioGRID:111890 RCVRN    BioGRID  PubMed Two-hybrid 
    BioGRID:115393 BioGRID:112148 RPS28    BioGRID  PubMed Co-fractionation 
    BioGRID:115393 BioGRID:118144 RPS6KA6    BioGRID  PubMed Co-fractionation 
    BioGRID:115393 BioGRID:112152 RRBP1    BioGRID  PubMed Co-fractionation 
    BioGRID:115393 BioGRID:115317 SCO2    BioGRID  PubMed Co-fractionation 
    BioGRID:115393 BioGRID:113826 SF3A2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:115393 BioGRID:112338 SFTPC    BioGRID  PubMed Reconstituted Complex 
    BioGRID:115393 BioGRID:123624 SLIRP    BioGRID  PubMed Co-fractionation 
    BioGRID:115393 BioGRID:121810 SRPRB    BioGRID  PubMed Co-fractionation 
    BioGRID:115393 BioGRID:121767 SUGP1    BioGRID  PubMed Co-fractionation 
    BioGRID:115393 BioGRID:119030 TLX3    BioGRID  PubMed Two-hybrid 
    BioGRID:115393 BioGRID:116113 TXNL4A    BioGRID  PubMed Two-hybrid 
    BioGRID:115393 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:115393 BioGRID:113885 UBL4A    BioGRID  PubMed Co-fractionation 
    BioGRID:115393 BioGRID:113262 VDAC3    BioGRID  PubMed Co-fractionation 
    BioGRID:115393 BioGRID:119702 WBP11    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:115393 BioGRID:122532 WDR77    BioGRID  PubMed Two-hybrid 
    BioGRID:115393 BioGRID:115208 ZC3H11A    BioGRID  PubMed Co-fractionation 
    • Spliceosome, organism-specific biosystem (from KEGG)
      Spliceosome, organism-specific biosystemAfter transcription, eukaryotic mRNA precursors contain protein-coding exons and noncoding introns. In the following splicing, introns are excised and exons are joined by a macromolecular complex, th...
    • Spliceosome, conserved biosystem (from KEGG)
      Spliceosome, conserved biosystemAfter transcription, eukaryotic mRNA precursors contain protein-coding exons and noncoding introns. In the following splicing, introns are excised and exons are joined by a macromolecular complex, th...
    • Spliceosome, Prp19/CDC5L complex, organism-specific biosystem (from KEGG)
      Spliceosome, Prp19/CDC5L complex, organism-specific biosystemStructural complex; Genetic information processing; Spliceosome

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    transcription coactivator activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    regulation of transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    cytoplasmic stress granule IEA
    Inferred from Electronic Annotation
    more info
    		  
    neuronal ribonucleoprotein granule IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    nucleus IDA
    Inferred from Direct Assay
    more info
    		  
    Preferred Names
    polyglutamine-binding protein 1
    Names
    polyglutamine-binding protein 1
    polyglutamine tract-binding protein 1
    nuclear protein containing WW domain 38 kD
    38 kDa nuclear protein containing a WW domain

    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_015967.1 RefSeqGene

      Range
      5001..10228
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001032381.1 → NP_001027553.1  polyglutamine-binding protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, and 5 all encode the same protein (isoform 1).
      Source sequence(s)
      BC012358, CN292761
      Consensus CDS
      CCDS14309.1
      UniProtKB/Swiss-Prot
      O60828
      Conserved Domains (1) summary
      smart00456
      Location:47 – 78
      Blast Score: 87
      WW; Domain with 2 conserved Trp (W) residues

    2. NM_001032382.1 → NP_001027554.1  polyglutamine-binding protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, and 5 all encode the same protein (isoform 1).
      Source sequence(s)
      AB016533, BC012358, CN292761
      Consensus CDS
      CCDS14309.1
      UniProtKB/Swiss-Prot
      O60828
      Related
      ENSP00000391759, OTTHUMP00000025808, ENST00000447146, OTTHUMT00000060777
      Conserved Domains (1) summary
      smart00456
      Location:47 – 78
      Blast Score: 87
      WW; Domain with 2 conserved Trp (W) residues

    3. NM_001032383.1 → NP_001027555.1  polyglutamine-binding protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, and 5 all encode the same protein (isoform 1).
      Source sequence(s)
      BC012358, BX362311, CN292761
      Consensus CDS
      CCDS14309.1
      UniProtKB/Swiss-Prot
      O60828
      Related
      ENSP00000365747, ENST00000376563
      Conserved Domains (1) summary
      smart00456
      Location:47 – 78
      Blast Score: 87
      WW; Domain with 2 conserved Trp (W) residues

    4. NM_001032384.1 → NP_001027556.1  polyglutamine-binding protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, and 5 all encode the same protein (isoform 1).
      Source sequence(s)
      AJ005893, BC012358, BE396796
      Consensus CDS
      CCDS14309.1
      UniProtKB/Swiss-Prot
      O60828
      Related
      ENSP00000379985, ENST00000396763
      Conserved Domains (1) summary
      smart00456
      Location:47 – 78
      Blast Score: 87
      WW; Domain with 2 conserved Trp (W) residues

    5. NM_001167989.1 → NP_001161461.1  polyglutamine-binding protein 1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR and uses a different splice site in the 3' coding region, compared to variant 1. The resulting protein (isoform 4) is shorter by 1 aa when it is compared to isoform 1.
      Source sequence(s)
      AJ973597, AJ973606, BE385548, BI818141, CD365745, CN292761
      UniProtKB/Swiss-Prot
      O60828
      Conserved Domains (1) summary
      smart00456
      Location:47 – 78
      Blast Score: 87
      WW; Domain with 2 conserved Trp (W) residues

    6. NM_001167990.1 → NP_001161462.1  polyglutamine-binding protein 1 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR and uses a different splice site in the coding region, compared to variant 1. The resulting protein (isoform 5) is shorter when it is compared to isoform 1.
      Source sequence(s)
      BC012358, CD051018
      UniProtKB/Swiss-Prot
      O60828

    7. NM_001167992.1 → NP_001161464.1  polyglutamine-binding protein 1 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) lacks a 5' UTR and uses different splice sites in the coding region, compared to variant 1. The resulting protein (isoform 6) is shorter when it is compared to isoform 1.
      Source sequence(s)
      AJ973605, BC012358, CN292761
      UniProtKB/Swiss-Prot
      O60828

    8. NM_005710.2 → NP_005701.1  polyglutamine-binding protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1, 2, 3, 4, and 5 all encode the same protein (isoform 1).
      Source sequence(s)
      AJ005893, BC012358
      Consensus CDS
      CCDS14309.1
      UniProtKB/Swiss-Prot
      O60828
      Related
      ENSP00000218224, ENST00000218224
      Conserved Domains (1) summary
      smart00456
      Location:47 – 78
      Blast Score: 87
      WW; Domain with 2 conserved Trp (W) residues

    9. NM_144495.2 → NP_652766.1  polyglutamine-binding protein 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) contains a different 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting protein (isoform 3) is shorter when it is compared to isoform 1. Variant 7 is also known as variant PQBP-1d.
      Source sequence(s)
      AJ973593, BC012358, CN292761
      Consensus CDS
      CCDS55412.1
      UniProtKB/Swiss-Prot
      O60828
      Related
      ENSP00000365750, ENST00000376566
      Conserved Domains (1) summary
      smart00456
      Location:47 – 78
      Blast Score: 86
      WW; Domain with 2 conserved Trp (W) residues

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 PATCHES

    Genomic

    1. NW_004070880.1 Reference GRCh37.p10 PATCHES

      Range
      1137341..1142574
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000023.10 Reference GRCh37.p10 Primary Assembly

      Range
      48755195..48760422
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000155.1 Alternate HuRef

      Range
      46411224..46416455
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018934.1 Alternate CHM1_1.0

      Range
      48674785..48680012
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001032385.1: Suppressed sequence

      Description
      NM_001032385.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    2. NM_144494.1: Suppressed sequence

      Description
      NM_144494.1: This RefSeq was permanently suppressed because it contains intronic sequence and insufficient support exists for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    genomic AB041832.1 BAB16702.1
      BAB16703.1
      BAB16704.1
      BAB16705.1
    genomic ABBA01046078.1 (4360..6705) None
    genomic ABBA01046079.1 None
    genomic AC233300.2 (135699..140932) None
    genomic AF207550.3 (7579..12804) None
    genomic AMYH01022290.1 (468574..473801) None
    genomic CH471224.1 EAW50735.1
      EAW50736.1
      EAW50737.1
      EAW50738.1
    genomic CS691419.1 CAP12212.1
    mRNA AB016533.1 BAA76400.1
    mRNA AB041833.1 BAB16706.1
    mRNA AB041834.1 BAB16707.1
    mRNA AB041835.1 BAB16708.1
    mRNA AB041836.1 BAB16709.1
    mRNA AJ005893.1 CAA06750.1
    mRNA AJ242829.1 CAB44309.1
    mRNA AJ973593.1 CAJ00537.1
    mRNA AJ973594.1 CAJ00538.1
    mRNA AJ973595.1 CAJ00539.1
    mRNA AJ973596.1 CAJ00540.1
    mRNA AJ973597.1 CAJ00541.1
    mRNA AJ973598.1 CAJ00542.1
    mRNA AJ973599.1 CAJ00543.1
    mRNA AJ973600.1 CAJ00544.1
    mRNA AJ973601.1 CAJ00545.1
    mRNA AJ973602.1 CAJ00546.1
    mRNA AJ973603.1 CAJ00547.1
    mRNA AJ973604.1 CAJ00551.1
    mRNA AJ973605.1 CAJ00548.1
    mRNA AJ973606.1 CAJ00549.1
    mRNA AJ973607.1 CAJ00550.1
    mRNA BC012358.1 AAH12358.1
    mRNA BE385548.1 None
    mRNA BE396796.1 None
    mRNA BI818141.1 None
    mRNA BX362311.2 None
    mRNA BX369697.2 None
    mRNA CD051018.1 None
    mRNA CD365745.1 None
    mRNA CN292761.1 None
    mRNA CN292769.1 None
    other-genetic DQ892221.2 ABM83147.1
    other-genetic DQ894883.2 ABM85809.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60828.1 GenPept UniProtKB/Swiss-Prot:O60828

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • GTR
        GTR associated with a gene
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
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        Gene Genotype Report
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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