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    ATXN3 ataxin 3 [ Homo sapiens ]

    Gene ID: 4287, updated on 11-May-2012
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    Summary

    Official Symbol
    ATXN3provided by HGNC
    Official Full Name
    ataxin 3provided by HGNC
    Primary source
    HGNC:7106
    See related
    Ensembl:ENSG00000066427; HPRD:06131; MIM:607047; Vega:OTTHUMG00000162212
    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
    AT3; JOS; MJD; ATX3; MJD1; SCA3
    Summary
    Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2009]
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    Genomic context

    Location :
    14q21
    Sequence :
    Chromosome: 14; NC_000014.8 (92524896..92572965, complement)
    See ATXN3 in Epigenomics, MapViewer

    Chromosome 14 - NC_000014.8Genomic Context describing neighboring genes Neighboring gene fibulin 5 Neighboring gene thyroid hormone receptor interactor 11 Neighboring gene prothymosin, alpha pseudogene 7 Neighboring gene NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa Neighboring gene cleavage and polyadenylation specific factor 2, 100kDa

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. The role of the central flexible region on the aggregation and conformational properties of human ataxin-3. Santambrogio C, et al. FEBS J, 2012 Feb. PMID 22129356.
    2. Activity-based chemical proteomics accelerates inhibitor development for deubiquitylating enzymes. Altun M, et al. Chem Biol, 2011 Nov 23. PMID 22118674.
    3. Excitation-induced ataxin-3 aggregation in neurons from patients with Machado-Joseph disease. Koch P, et al. Nature, 2011 Nov 23. PMID 22113611.
    4. Ataxin-3 deubiquitination is coupled to Parkin ubiquitination via E2 ubiquitin-conjugating enzyme. Durcan TM, et al. J Biol Chem, 2012 Jan 2. PMID 22081612.
    5. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. Lee KA, et al. J Biol Chem, 2011 Dec 2. PMID 21987572.

    See all (156) 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 central flexible region enhances protein aggregation and can populate conformational states with different degrees of compactness
      Title: The role of the central flexible region on the aggregation and conformational properties of human ataxin-3.
    2. -glutamate-induced excitation of patient-specific induced pluripotent stem cell (iPSC)-derived neurons initiates Ca(2+)-dependent proteolysis of ATXN3 followed by the formation of SDS-insoluble aggregates
      Title: Excitation-induced ataxin-3 aggregation in neurons from patients with Machado-Joseph disease.
    3. identification of SCA3 gene mutations in a slowly progressive isolated form of ataxia in a chinese cohort
      Title: Genotyping and prenatal diagnosis of a large spinocerebellar ataxia pedigree in northeastern China.
    4. Findings support that ATXN3 plays an important role in regulating the FOXO4-dependent antioxidant stress response via SOD2.
      Title: FOXO4-dependent upregulation of superoxide dismutase-2 in response to oxidative stress is impaired in spinocerebellar ataxia type 3.
    5. This sudy showed that ATXN3 CAG trinucleotide repeat mutation related to Machado-Joseph disease.
      Title: Machado-Joseph disease/spinocerebellar ataxia type 3.
    6. Polyglutamine-expanded ataxin-3 upregulates mRNA expression of Bax and causes apoptotic death of affected neurons by enhancing phosphorylation and transcriptional activity of p53.
      Title: p53 activation mediates polyglutamine-expanded ataxin-3 upregulation of Bax expression in cerebellar and pontine nuclei neurons.
    7. HAP1/stigmoid body interacts with the normal ataxin-3 through Josephin domain
      Title: Interaction of ataxin-3 with huntingtin-associated protein 1 through Josephin domain.
    8. In Korean population, the mutation frequencies of SCA3 to parkinsonism was insignificant.
      Title: Relative contribution of SCA2, SCA3 and SCA17 in Korean patients with parkinsonism and ataxia.
    9. monitored the aggregation of a normal (AT3Q24) ataxin-3, an expanded (AT3Q55) ataxin-3, and the JD in isolation. We observed that all of them aggregated, although the latter did so at a much slower rate
      Title: A major role for side-chain polyglutamine hydrogen bonding in irreversible ataxin-3 aggregation.
    10. a key role of Josephin in ataxin-3 fibrillar aggregation
      Title: The Josephin domain determines the morphological and mechanical properties of ataxin-3 fibrils.
    Submit: New GeneRIF Correction See all (100)
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    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Identification of ten loci associated with height highlights new biological pathways in human growth.

    Machado-Joseph disease

    Summary from GeneReviews: Go to GeneReviews

    Disease Characteristics
    Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is characterized by progressive cerebellar ataxia and variable findings including a dystonic-rigid syndrome, a parkinsonian syndrome, or a combined syndrome of dystonia and peripheral neuropathy. Neurologic findings tend to evolve as the disease progresses.
    Diagnosis Testing
    The diagnosis of SCA3 rests on the use of molecular genetic testing to detect an abnormal CAG trinucleotide repeat expansion in ATXN3. Affected individuals have alleles with 52 to 86 CAG trinucleotide repeats. Such testing detects 100% of affected individuals and is available in clinical laboratories.
    Genetic Counseling
    SCA3 is inherited in an autosomal dominant manner. Offspring of affected individuals have a 50% chance of inheriting the mutation. Prenatal testing is possible for pregnancies at increased risk if the diagnosis has been confirmed in an affected family member.
    References

    Many sequence variants affecting diversity of adult human height.

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    AAB33571.1 NP_150634.1 CASP1    BIND  PubMed Ataxin-3 interacts with caspase 1. This interaction was modeled on a demonstrated interaction between human ataxin-3 and caspase 1 from an unspecified species. 
    AAB33571.1 NP_004337.2 CASP3    BIND  PubMed Ataxin-3 interacts with caspase 3. This interaction was modeled on a demonstrated interaction between human ataxin-3 and caspase 3 from an unspecified species. 
    P54252 Q14CB8 ARHGAP19    HPRD  PubMed  
    P54252 Q9BSU1 C16orf70    HPRD  PubMed  
    P54252 P29466 CASP1    HPRD  PubMed  
    P54252 Q01844 EWSR1    HPRD  PubMed  
    P54252 Q9NRD5 PICK1    HPRD  PubMed  
    P54252 P51665 PSMD7    HPRD  PubMed  
    P54252 P54725 RAD23A    HPRD  PubMed  
    P54252 P54727 RAD23B    HPRD  PubMed  
    P54252 TEX11 TEX11    HPRD  PubMed  
    P54252 Ubiquitin B UBB    HPRD  PubMed  
    P54252 Q9UMX0 UBQLN1    HPRD  PubMed  
    P54252 P55072 VCP    HPRD  PubMed  
    BioGRID:110433 BioGRID:106764 AMFR    BioGRID  PubMed Affinity Capture-Western; Co-localization 
    BioGRID:110433 BioGRID:106807 ANXA7    BioGRID  PubMed Two-hybrid 
    BioGRID:110433 BioGRID:107460 CDKN1A    BioGRID  PubMed Two-hybrid 
    BioGRID:110433 BioGRID:107777 CREBBP    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110433 BioGRID:108122 DNM2    BioGRID  PubMed Two-hybrid 
    BioGRID:110433 BioGRID:108347 EP300    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110433 BioGRID:110449 FOXO4    BioGRID  PubMed Affinity Capture-Western; Co-localization 
    BioGRID:110433 BioGRID:109187 GSK3B    BioGRID  PubMed Two-hybrid 
    BioGRID:110433 BioGRID:114368 HDAC3    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110433 BioGRID:114375 KAT2B    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110433 BioGRID:123803 KCTD10    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110433 BioGRID:114138 MKNK1    BioGRID  PubMed Two-hybrid 
    BioGRID:110433 BioGRID:114973 NCOR1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110433 BioGRID:122461 OTUB2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110433 BioGRID:111105 PARK2    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:110433 BioGRID:36744 PRE1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110433 BioGRID:111683 PSMD4    BioGRID  PubMed Biochemical Activity 
    NP_005044.1 RAD23A    BIND  PubMed Ataxin-3 interacts with HHR23A. 
    BioGRID:110433 BioGRID:111823 RAD23A    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    NP_002865.1 RAD23B    BIND  PubMed Ataxin-3 interacts with HHR23B. 
    BioGRID:110433 BioGRID:111824 RAD23B    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:110433 BioGRID:112109 RPS6KA1    BioGRID  PubMed Two-hybrid 
    BioGRID:110433 BioGRID:115563 STUB1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:110433 BioGRID:32225 SUP35    BioGRID  PubMed Co-localization; Phenotypic Suppression 
    BioGRID:110433 BioGRID:112938 TK1    BioGRID  PubMed Two-hybrid 
    BioGRID:110433 BioGRID:113041 TRAF6    BioGRID  PubMed Biochemical Activity 
    BioGRID:110433 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:110433 BioGRID:113180 UBE2L3    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110433 BioGRID:118150 UBE2S    BioGRID  PubMed Biochemical Activity 
    BioGRID:110433 BioGRID:115566 UBE4B    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110433 BioGRID:119007 UBQLN1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:110433 BioGRID:114465 USP13    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110433 BioGRID:113258 VCP    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:110433 BioGRID:108822 XRCC6    BioGRID  PubMed Affinity Capture-Western 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Protein processing in endoplasmic reticulum, organism-specific biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, organism-specific biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
    • Protein processing in endoplasmic reticulum, conserved biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, conserved biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cysteine-type peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    omega peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		  
    cell death IEA
    Inferred from Electronic Annotation
    more info
    		  
    intermediate filament cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		  
    microtubule cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		  
    nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    nucleotide-excision repair TAS
    Traceable Author Statement
    more info
    		 PubMed 
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of cell-substrate adhesion IMP
    Inferred from Mutant Phenotype
    more info
    		  
    regulation of transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    synaptic transmission TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    cytoplasm TAS
    Traceable Author Statement
    more info
    		 PubMed 
    nuclear matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleoplasm TAS
    Traceable Author Statement
    more info
    		 PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    ataxin-3
    Names
    ataxin-3
    josephin
    ataxin 3 variant h
    ataxin 3 variant m
    ataxin 3 variant ref
    olivopontocerebellar ataxia 3
    Machado-Joseph disease protein 1
    spinocerebellar ataxia type 3 protein
    Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)
    NP_001121168.1
    NP_001121169.2
    NP_001158246.1
    NP_001158248.1
    NP_001158249.1
    NP_001158250.1
    NP_001158251.1
    NP_001158252.1
    NP_001158253.1
    NP_001158254.1
    NP_004984.2
    NP_109376.1
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    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_008198.1 RefSeqGene

      Range
      5001..53070
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001127696.1 → NP_001121168.1  ataxin-3 isoform ad

      Status: REVIEWED

      Description
      Transcript Variant: This variant (ad, also known as variant 3) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform ad (also known as isoform 3).
      Source sequence(s)
      AB050194, AL049872, BU190081, DA827537
      Consensus CDS
      CCDS45154.1
      UniProtKB/TrEMBL
      E9PB63
      UniProtKB/Swiss-Prot
      P54252
      Related
      ENSP00000426697, OTTHUMP00000221587, ENST00000503767, OTTHUMT00000367926
      Conserved Domains (2) summary
      pfam02099
      Location:8 – 153
      Blast Score: 567
      Josephin; Josephin
      pfam02809
      Location:208 – 225
      Blast Score: 75
      UIM; Ubiquitin interaction motif

    2. NM_001127697.2 → NP_001121169.2  ataxin-3 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (e, also known as variant 4) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform e (also known as isoform 4).
      Source sequence(s)
      AL049872, AL121773
      Related
      ENSP00000451996, OTTHUMP00000245325, ENST00000553491, OTTHUMT00000412081
      Conserved Domains (1) summary
      pfam02099
      Location:8 – 117
      Blast Score: 392
      Josephin; Josephin

    3. NM_001164774.1 → NP_001158246.1  ataxin-3 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform b.
      Source sequence(s)
      AL049872, AL121773
      Conserved Domains (1) summary
      pfam02099
      Location:8 – 63
      Blast Score: 212
      Josephin; Josephin

    4. NM_001164776.1 → NP_001158248.1  ataxin-3 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (g) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform g.
      Source sequence(s)
      AL049872, AL121773
      Conserved Domains (1) summary
      pfam02099
      Location:8 – 78
      Blast Score: 281
      Josephin; Josephin

    5. NM_001164777.1 → NP_001158249.1  ataxin-3 isoform j

      Status: REVIEWED

      Description
      Transcript Variant: This variant (j) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform j.
      Source sequence(s)
      AL049872, AL121773

    6. NM_001164778.1 → NP_001158250.1  ataxin-3 isoform o

      Status: REVIEWED

      Description
      Transcript Variant: This variant (o) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform o.
      Source sequence(s)
      AL049872, AL121773
      Conserved Domains (1) summary
      pfam02099
      Location:8 – 129
      Blast Score: 484
      Josephin; Josephin

    7. NM_001164779.1 → NP_001158251.1  ataxin-3 isoform r

      Status: REVIEWED

      Description
      Transcript Variant: This variant (r) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform r.
      Source sequence(s)
      AL049872, AL121773
      Related
      ENSP00000450641, OTTHUMP00000245332, ENST00000556220, OTTHUMT00000412092
      Conserved Domains (1) summary
      pfam02099
      Location:5 – 47
      Blast Score: 178
      Josephin; Josephin

    8. NM_001164780.1 → NP_001158252.1  ataxin-3 isoform u

      Status: REVIEWED

      Description
      Transcript Variant: This variant (u) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform u. PMID:19714377 predicts that this is a noncoding transcript, but there is a downstream orf that may encode a protein identical to the C-terminus of the reference isoform.
      Source sequence(s)
      AL049872, AL121773
      Consensus CDS
      CCDS53908.1
      UniProtKB/TrEMBL
      D6RDL9
      Related
      ENSP00000425322, OTTHUMP00000221586, ENST00000502250, OTTHUMT00000367925

    9. NM_001164781.1 → NP_001158253.1  ataxin-3 isoform y

      Status: REVIEWED

      Description
      Transcript Variant: This variant (y) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform y.
      Source sequence(s)
      AL049872, AL121773
      Related
      ENSP00000451001, OTTHUMP00000245314, ENST00000555381, OTTHUMT00000412067
      Conserved Domains (2) summary
      pfam02099
      Location:9 – 98
      Blast Score: 381
      Josephin; Josephin
      pfam02809
      Location:153 – 170
      Blast Score: 75
      UIM; Ubiquitin interaction motif

    10. NM_001164782.1 → NP_001158254.1  ataxin-3 isoform ae

      Status: REVIEWED

      Description
      Transcript Variant: This variant (ae) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform ae.
      Source sequence(s)
      AL049872, AL121773

    11. NM_004993.5 → NP_004984.2  ataxin-3 reference isoform

      Status: REVIEWED

      Description
      Transcript Variant: This variant (reference, also known as variant 1) encodes the longest isoform (reference isoform, also known as isoform 1).
      Source sequence(s)
      AB050194, AL049872, DA827537
      Consensus CDS
      CCDS9900.1
      UniProtKB/Swiss-Prot
      P54252
      Related
      ENSP00000376965, OTTHUMP00000221583, ENST00000393287, OTTHUMT00000367922
      Conserved Domains (2) summary
      pfam02099
      Location:8 – 168
      Blast Score: 658
      Josephin; Josephin
      pfam02809
      Location:223 – 240
      Blast Score: 76
      UIM; Ubiquitin interaction motif

    12. NM_030660.4 → NP_109376.1  ataxin-3 isoform h

      Status: REVIEWED

      Description
      Transcript Variant: This variant (h, also known as variant 2) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform h (also known as isoform 2).
      Source sequence(s)
      AB050194, AL049872, DA827537
      Consensus CDS
      CCDS32143.1
      UniProtKB/Swiss-Prot
      P54252
      Related
      ENSP00000339110, OTTHUMP00000221585, ENST00000340660, OTTHUMT00000367924
      Conserved Domains (2) summary
      pfam02099
      Location:9 – 113
      Blast Score: 450
      Josephin; Josephin
      pfam02809
      Location:168 – 185
      Blast Score: 76
      UIM; Ubiquitin interaction motif

    RNA

    1. NR_028453.1 RNA Sequence

      Description
      Transcript Variant: This variant (a) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773

    2. NR_028454.1 RNA Sequence

      Description
      Transcript Variant: This variant (d) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773

    3. NR_028455.1 RNA Sequence

      Description
      Transcript Variant: This variant (f) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773

    4. NR_028456.1 RNA Sequence

      Description
      Transcript Variant: This variant (i) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773

    5. NR_028457.1 RNA Sequence

      Description
      Transcript Variant: This variant (k) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773

    6. NR_028458.1 RNA Sequence

      Description
      Transcript Variant: This variant (l) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773

    7. NR_028459.1 RNA Sequence

      Description
      Transcript Variant: This variant (m) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is a nonsense-mediated mRNA decay candidate and is not thought to be protein-coding, although PMID:19714377 predicts that it is protein-coding.
      Source sequence(s)
      AL049872, AL121773

    8. NR_028460.1 RNA Sequence

      Description
      Transcript Variant: This variant (n) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773

    9. NR_028461.1 RNA Sequence

      Description
      Transcript Variant: This variant (p) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773

    10. NR_028462.1 RNA Sequence

      Description
      Transcript Variant: This variant (q) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is a nonsense-mediated mRNA decay candidate and is not thought to be protein-coding, although PMID:19714377 predicts that it is protein-coding.
      Source sequence(s)
      AL049872, AL121773

    11. NR_028463.1 RNA Sequence

      Description
      Transcript Variant: This variant (t) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773

    12. NR_028464.1 RNA Sequence

      Description
      Transcript Variant: This variant (v) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is a nonsense-mediated mRNA decay candidate and is not thought to be protein-coding, although PMID:19714377 predicts that it is protein-coding.
      Source sequence(s)
      AL049872, AL121773

    13. NR_028465.1 RNA Sequence

      Description
      Transcript Variant: This variant (w) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773

    14. NR_028466.1 RNA Sequence

      Description
      Transcript Variant: This variant (x) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773

    15. NR_028467.1 RNA Sequence

      Description
      Transcript Variant: This variant (z) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773

    16. NR_028468.1 RNA Sequence

      Description
      Transcript Variant: This variant (ac) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773

    17. NR_028469.1 RNA Sequence

      Description
      Transcript Variant: This variant (af) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773

    18. NR_028470.1 RNA Sequence

      Description
      Transcript Variant: This variant (am) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773

    19. NR_031765.1 RNA Sequence

      Description
      Transcript Variant: This variant (c) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant is not thought to be protein-coding.
      Source sequence(s)
      AL049872, AL121773

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000014.8 Reference GRCh37.p5 Primary Assembly

      Range
      92524896..92572965, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000146.1 Alternate HuRef

      Range
      72705822..72754183, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001024631.1: Suppressed sequence

      Description
      NM_001024631.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Help top of page

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AB038653.1 BAB55645.1
      BAB55646.1
    genomic AL049872.3 (136143..170668) None
    genomic AL121773.5 (13120..26663) None
    genomic CH471061.1 EAW81471.1
      EAW81472.1
      EAW81473.1
      EAW81474.1
      EAW81475.1
    genomic EU009923.1 ABS29269.1
    genomic HI179016.1 CBX53817.1
    genomic HI179018.1 CBX53818.1
    mRNA AB050194.1 BAB18798.1
    mRNA AB209309.1 BAD92546.1
    mRNA AK225884.1 None
    mRNA AK307720.1 None
    mRNA AK314919.1 None
    mRNA BC022245.1 None
    mRNA BC033711.1 AAH33711.1
    mRNA BC095402.1 AAH95402.1
    mRNA BU190081.1 None
    mRNA BU663113.1 None
    mRNA DA827537.1 None
    mRNA GQ176435.1 ADD00637.1
    mRNA GQ176436.1 ADD00638.1
    mRNA GQ176437.1 ADD00639.1
    mRNA GQ176438.1 None
    mRNA GQ176443.1 None
    mRNA GQ176445.1 None
    mRNA GQ176446.1 None
    mRNA GQ176452.1 ADD00642.1
    mRNA GQ176453.1 None
    mRNA GQ176454.1 ADD00643.1
    mRNA GQ176455.1 ADD00644.1
    mRNA GQ176456.1 None
    mRNA GQ176457.1 ADD00645.1
    mRNA GQ176459.1 ADD00646.1
    mRNA GQ176461.1 None
    mRNA GQ176462.1 ADD00647.1
    mRNA GQ176463.1 None
    mRNA GQ176464.1 None
    mRNA GQ176465.1 None
    mRNA GQ176466.1 None
    mRNA GQ176467.1 ADD00648.1
    mRNA GQ176469.1 None
    mRNA GQ176474.1 ADD00649.1
    mRNA GQ176475.1 None
    mRNA GQ176476.1 ADD00650.1
    mRNA GQ176477.1 None
    mRNA GQ176479.1 None
    mRNA GQ176480.1 None
    mRNA GQ176482.1 None
    mRNA GQ176483.1 None
    mRNA GQ176484.1 None
    mRNA GQ176485.1 ADD00651.1
    mRNA GQ176486.1 ADD00652.1
    mRNA GQ176487.1 ADD00653.1
    mRNA GQ176488.1 ADD00654.1
    mRNA GQ176489.1 ADD00655.1
    mRNA GQ176490.1 None
    mRNA GQ176492.1 None
    mRNA GQ176493.1 ADD00656.1
    mRNA GQ176494.1 None
    mRNA GQ176496.1 None
    mRNA GQ176497.1 None
    mRNA GQ176499.1 ADD00659.1
    mRNA GQ176510.1 ADD00662.1
    mRNA GQ176511.1 ADD00663.1
    mRNA GQ176525.1 None
    mRNA GQ176529.1 None
    mRNA GQ176531.1 ADD00668.1
    mRNA GQ176532.1 ADD00669.1
    mRNA GQ176533.1 ADD00670.1
    mRNA GQ176534.1 None
    mRNA GQ176536.1 ADD00671.1
    mRNA GQ176538.1 ADD00672.1
    mRNA GQ176542.1 ADD00675.1
    mRNA GQ176543.1 None
    mRNA GQ176545.1 ADD00676.1
    mRNA GQ176546.1 None
    mRNA GQ176547.1 None
    mRNA GQ176548.1 ADD00677.1
    mRNA GQ176550.1 ADD00678.1
    mRNA GQ176551.1 ADD00679.1
    mRNA GQ176552.1 ADD00680.1
    mRNA GQ176554.1 None
    mRNA GQ176556.1 None
    mRNA GQ176559.1 None
    mRNA GQ176560.1 ADD00681.1
    mRNA GQ176563.1 ADD00682.1
    mRNA GQ176565.1 ADD00684.1
    mRNA GQ176566.1 ADD00685.1
    mRNA GQ176567.1 ADD00686.1
    mRNA GQ176570.1 ADD00688.1
    mRNA GQ176574.1 None
    mRNA GQ176576.1 None
    mRNA GQ176577.1 ADD00690.1
    mRNA GQ176578.1 ADD00691.1
    mRNA GQ176579.1 None
    mRNA GQ176580.1 ADD00692.1
    mRNA GQ176582.1 None
    mRNA GQ176587.1 None
    mRNA GQ176589.1 ADD00693.1
    mRNA GQ176592.1 ADD00694.1
    mRNA GQ176609.1 ADD00699.1
    mRNA GQ176616.1 ADD00703.1
    mRNA GQ176618.1 ADD00704.1
    mRNA GQ176621.1 ADD00706.1
    mRNA GQ176622.1 ADD00707.1
    mRNA GQ176624.1 None
    mRNA GQ176626.1 None
    mRNA GQ176627.1 ADD00709.1
    mRNA GQ176628.1 ADD00710.1
    mRNA GQ176630.1 None
    mRNA GQ176631.1 None
    mRNA GQ176632.1 ADD00711.1
    mRNA GQ176633.1 ADD00712.1
    mRNA GQ176636.1 ADD00714.1
    mRNA GQ176639.1 ADD00715.1
    mRNA GQ176644.1 ADD00718.1
    mRNA GQ176656.1 None
    mRNA GQ176658.1 ADD00721.1
    mRNA GQ176660.1 ADD00722.1
    mRNA GQ176662.1 None
    mRNA GQ176664.1 None
    mRNA GQ176665.1 ADD00724.1
    mRNA GQ176667.1 None
    mRNA GQ176674.1 ADD00728.1
    mRNA GQ176675.1 ADD00729.1
    mRNA GQ176677.1 ADD00730.1
    mRNA GQ176678.1 None
    mRNA GQ176679.1 ADD00731.1
    mRNA GQ176680.1 ADD00732.1
    mRNA GQ176681.1 None
    mRNA GQ176682.1 None
    mRNA GQ176683.1 None
    mRNA GQ176684.1 ADD00733.1
    mRNA GQ176685.1 ADD00734.1
    mRNA GQ176687.1 ADD00736.1
    mRNA GQ176688.1 ADD00737.1
    mRNA GQ176689.1 None
    mRNA GQ176690.1 None
    mRNA GQ176691.1 None
    mRNA GQ176692.1 ADD00738.1
    mRNA GQ176693.1 ADD00739.1
    mRNA GQ176694.1 None
    mRNA GQ176695.1 ADD00740.1
    mRNA GQ176696.1 None
    mRNA GQ176697.1 ADD00741.1
    mRNA GQ176700.1 ADD00744.1
    mRNA GQ176701.1 ADD00745.1
    mRNA GQ176702.1 None
    mRNA GQ176703.1 ADD00746.1
    mRNA GQ176712.1 ADD00750.1
    mRNA GQ176714.1 ADD00751.1
    mRNA GQ176715.1 None
    mRNA GQ176716.1 None
    mRNA GQ176718.1 None
    mRNA GQ176719.1 ADD00752.1
    mRNA GQ176720.1 None
    mRNA GQ176721.1 ADD00753.1
    mRNA GQ176722.1 None
    mRNA GQ176723.1 None
    mRNA GQ176724.1 ADD00754.1
    mRNA GQ176725.1 ADD00755.1
    mRNA GQ176726.1 None
    mRNA GQ176727.1 ADD00756.1
    mRNA GQ176728.1 ADD00757.1
    mRNA GQ176737.1 ADD00759.1
    mRNA GQ176740.1 None
    mRNA GQ176741.1 ADD00760.1
    mRNA GQ176743.1 None
    mRNA GQ176744.1 ADD00762.1
    mRNA GQ176746.1 ADD00764.1
    mRNA GQ176748.1 None
    mRNA GQ176749.1 ADD00765.1
    mRNA GQ176750.1 ADD00766.1
    mRNA GQ176753.1 None
    mRNA GQ176754.1 ADD00767.1
    mRNA GQ176755.1 None
    mRNA GQ176756.1 ADD00768.1
    mRNA GQ176757.1 ADD00769.1
    mRNA GQ176758.1 None
    mRNA GQ176759.1 ADD00770.1
    mRNA GQ176760.1 ADD00771.1
    mRNA GQ176761.1 ADD00772.1
    mRNA GQ176763.1 ADD00774.1
    mRNA GQ176766.1 ADD00775.1
    mRNA GQ176767.1 None
    mRNA GQ176769.1 ADD00776.1
    mRNA GQ176770.1 None
    mRNA GQ176771.1 ADD00777.1
    mRNA GQ176772.1 ADD00778.1
    mRNA GQ176773.1 ADD00779.1
    mRNA GQ176774.1 None
    mRNA GQ176776.1 ADD00780.1
    mRNA GQ176778.1 None
    mRNA GQ176779.1 None
    mRNA GQ176780.1 None
    mRNA GQ176781.1 ADD00782.1
    mRNA GQ176782.1 ADD00783.1
    mRNA GQ176784.1 ADD00784.1
    mRNA GQ176785.1 ADD00785.1
    mRNA GQ176786.1 ADD00786.1
    mRNA GQ176787.1 ADD00787.1
    mRNA GQ176789.1 ADD00788.1
    mRNA GQ176790.1 ADD00789.1
    mRNA GQ176793.1 ADD00792.1
    mRNA GQ176805.1 ADD00797.1
    mRNA GQ176807.1 None
    mRNA GQ176809.1 None
    mRNA GQ176810.1 None
    mRNA GQ176811.1 None
    mRNA GQ176812.1 ADD00800.1
    mRNA GQ176813.1 ADD00801.1
    mRNA GQ176814.1 None
    mRNA GQ176815.1 ADD00802.1
    mRNA GQ176817.1 ADD00803.1
    mRNA GQ176818.1 ADD00804.1
    mRNA GQ176819.1 None
    mRNA GQ176820.1 ADD00805.1
    mRNA GQ176821.1 None
    mRNA GQ176823.1 None
    mRNA GQ176828.1 None
    mRNA GQ176832.1 None
    mRNA GQ176833.1 None
    mRNA GQ176835.1 ADD00809.1
    mRNA GQ176836.1 ADD00810.1
    mRNA GQ176837.1 ADD00811.1
    mRNA S75313.1 AAB33571.1
    mRNA U64820.1 AAB63352.1
    mRNA U64821.1 AAB63353.1
    mRNA U64822.1 AAB63354.1
    other-genetic DQ891282.2 ABM82208.1
    other-genetic EU176576.1 ABW03377.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P54252.4 GenPept UniProtKB/Swiss-Prot:P54252
    Q4VBR4 GenPept UniProtKB/TrEMBL:Q4VBR4
    Q59G00 GenPept UniProtKB/TrEMBL:Q59G00
    Help top of page

    Additional Links

    Additional Links

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