ATXN3 ataxin 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATXN3provided by HGNC
Official Full Name: ataxin 3provided by HGNC
Primary source: HGNC:HGNC:7106
See related: Ensembl:ENSG00000066427 MIM:607047; AllianceGenome:HGNC:7106
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 12-44 to 52-86 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, Jul 2016]
Expression: Ubiquitous expression in skin (RPKM 4.6), testis (RPKM 3.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.12

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (92044775..92106582, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (86274279..86336122, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (92511119..92572926, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ATXN3 functions as a tumor suppressor through potentiating galectin-9-mediated apoptosis in human colon adenocarcinoma.
Title: ATXN3 functions as a tumor suppressor through potentiating galectin-9-mediated apoptosis in human colon adenocarcinoma.
Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease.
Title: Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease.
Cognitive impairment associated with cerebellar volume loss in spinocerebellar ataxia type 3.
Title: Cognitive impairment associated with cerebellar volume loss in spinocerebellar ataxia type 3.
5-methylcytosine-mediated upregulation of circular RNA 0102913 augments malignant properties of colorectal cancer cells through a microRNA-571/Rac family small GTPase 2 axis.
Title: 5-methylcytosine-mediated upregulation of circular RNA 0102913 augments malignant properties of colorectal cancer cells through a microRNA-571/Rac family small GTPase 2 axis.
CRISPR screening identifies the deubiquitylase ATXN3 as a PD-L1-positive regulator for tumor immune evasion.
Title: CRISPR screening identifies the deubiquitylase ATXN3 as a PD-L1-positive regulator for tumor immune evasion.
Involvement of Ataxin-3 (ATXN3) in the malignant progression of pancreatic cancer via deubiquitinating HDAC6.
Title: Involvement of Ataxin-3 (ATXN3) in the malignant progression of pancreatic cancer via deubiquitinating HDAC6.
ATXN3 controls DNA replication and transcription by regulating chromatin structure.
Title: ATXN3 controls DNA replication and transcription by regulating chromatin structure.
Structural alterations of spinocerebellar ataxias type 3: from pre-symptomatic to symptomatic stage.
Title: Structural alterations of spinocerebellar ataxias type 3: from pre-symptomatic to symptomatic stage.
Genetic Variation in ATXN3 (Ataxin-3) 3'UTR: Insights into the Downstream Regulatory Elements of the Causative Gene of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3.
Title: Genetic Variation in ATXN3 (Ataxin-3) 3'UTR: Insights into the Downstream Regulatory Elements of the Causative Gene of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3.
Predominant motor neuron involvement as a manifestation of pathogenic (full range) ATXN3 mutations.
Title: Predominant motor neuron involvement as a manifestation of pathogenic (full range) ATXN3 mutations.

Submit: New GeneRIF Correction See all GeneRIFs (191)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Azorean disease MedGen: C0024408 OMIM: 109150 GeneReviews: Hereditary Ataxia Overview, Spinocerebellar Ataxia Type 3	Compare labs
Parkinson disease, late-onset MedGen: C3160718 OMIM: 168600 GeneReviews: Parkinson Disease Overview, Gaucher Disease	Compare labs

EBI GWAS Catalog

Description
Genetics of coronary artery calcification among African Americans, a meta-analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of ten loci associated with height highlights new biological pathways in human growth. EBI GWAS Catalog EBI GWAS CatalogPubMed
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66122 (e-PCR)
- UniSTS:18722

D8S2279 (e-PCR)
- UniSTS:473907

RH102757 (e-PCR)
- UniSTS:97091

D14S891E (e-PCR)
- UniSTS:153947

L17796 (e-PCR)
- UniSTS:12896

G35435 (e-PCR)
- UniSTS:41839

D7S3207 (e-PCR)
- UniSTS:229489

D1S1425 (e-PCR)
- UniSTS:149621

ATXN3_8472 (e-PCR)
- UniSTS:467574

G35510 (e-PCR)
- UniSTS:44150

D14S968 (e-PCR)
- UniSTS:27776

RH69604 (e-PCR)
- UniSTS:41867

D14S1196 (e-PCR)
- UniSTS:55955

L17809 (e-PCR)
- UniSTS:39087

MARC_3309-3310:1032199027:1 (e-PCR)
- UniSTS:269240

G64288 (e-PCR)
- UniSTS:158652

RH18151 (e-PCR)
- UniSTS:209603

GDB:631802 (e-PCR)
- UniSTS:158429

G35728 (e-PCR)
- UniSTS:35805

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables K48-linked deubiquitinase activity	IDA Inferred from Direct Assay more info	PubMed
enables K63-linked deubiquitinase activity	IDA Inferred from Direct Assay more info	PubMed
enables cysteine-type deubiquitinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine-type deubiquitinase activity	IDA Inferred from Direct Assay more info	PubMed
enables cysteine-type deubiquitinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables cysteine-type deubiquitinase activity	TAS Traceable Author Statement more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to amino acid starvation	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to heat	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to misfolded protein	ISS Inferred from Sequence or Structural Similarity more info
involved_in chemical synaptic transmission	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within intermediate filament cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within microtubule cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in monoubiquitinated protein deubiquitination	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of TORC1 signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of TORC1 signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in nucleotide-excision repair	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of ERAD pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of ERAD pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein K48-linked deubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein K63-linked deubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein deubiquitination	TAS Traceable Author Statement more info
involved_in protein localization to cytosolic proteasome complex	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein quality control for misfolded or incompletely synthesized proteins	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein quality control for misfolded or incompletely synthesized proteins	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of cell-substrate adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
colocalizes_with endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial matrix	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear inclusion body	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear matrix	IEA Inferred from Electronic Annotation more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ataxin-3

Names: Machado-Joseph disease protein 1; josephin; olivopontocerebellar ataxia 3; spinocerebellar ataxia type 3 protein

NP_001121168.1

EC 3.4.19.12

NP_001121169.2

EC 3.4.19.12

NP_001158246.1

EC 3.4.19.12

NP_001158248.1

EC 3.4.19.12

NP_001158249.1

EC 3.4.19.12

NP_001158250.1

EC 3.4.19.12

NP_001158251.1

EC 3.4.19.12

NP_001158252.1

EC 3.4.19.12

NP_001158253.1

EC 3.4.19.12

NP_001158254.1

EC 3.4.19.12

NP_001410999.1

EC 3.4.19.12

NP_004984.2

EC 3.4.19.12

NP_109376.1

EC 3.4.19.12

NCBI Reference Sequences (RefSeq)

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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

NG_008198.2 RefSeqGene

Range

5040..53070

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_865

mRNA and Protein(s)

NM_001127696.2 → 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

Consensus CDS

CCDS45154.1

UniProtKB/TrEMBL

Q4VBR4

Related

ENSP00000426697.1, ENST00000503767.5

Conserved Domains (2) summary

pfam02099
Location:9 → 148

Josephin; Josephin

pfam16619
Location:249 → 313

SUIM_assoc; Unstructured region C-term to UIM in Ataxin3
NM_001127697.3 → 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

UniProtKB/TrEMBL

A0A0A0MS38, G3V4U9

Related

ENSP00000376965.6, ENST00000393287.9

Conserved Domains (2) summary

pfam02099
Location:9 → 112

Josephin; Josephin

pfam16619
Location:213 → 277

SUIM_assoc; Unstructured region C-term to UIM in Ataxin3
NM_001164774.2 → 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:9 → 56

Josephin; Josephin
NM_001164776.2 → 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

UniProtKB/TrEMBL

D3VVF1

Conserved Domains (1) summary

pfam02099
Location:9 → 78

Josephin; Josephin
NM_001164777.2 → 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

Conserved Domains (1) summary

pfam02099
Location:10 → 23

Josephin; Josephin
NM_001164778.2 → 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

UniProtKB/TrEMBL

G3V4F5

Conserved Domains (1) summary

pfam02099
Location:9 → 129

Josephin; Josephin
NM_001164779.2 → 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

UniProtKB/TrEMBL

D3VVI1

Related

ENSP00000450641.1, ENST00000556220.5

Conserved Domains (2) summary

pfam02099
Location:5 → 42

Josephin; Josephin

pfam16619
Location:143 → 207

SUIM_assoc; Unstructured region C-term to UIM in Ataxin3
NM_001164780.2 → 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

G3V2G2

Related

ENSP00000425322.1, ENST00000502250.5

Conserved Domains (1) summary

pfam16619
Location:85 → 149

SUIM_assoc; Unstructured region C-term to UIM in Ataxin3
NM_001164781.2 → 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

Consensus CDS

CCDS73680.1

UniProtKB/TrEMBL

C9JQV6, G3V328

Related

ENSP00000389376.3, ENST00000429774.6

Conserved Domains (2) summary

pfam02099
Location:9 → 93

Josephin; Josephin

pfam16619
Location:194 → 258

SUIM_assoc; Unstructured region C-term to UIM in Ataxin3
NM_001164782.2 → 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
NM_001424070.1 → NP_001410999.1 ataxin-3 isoform ag

Status: REVIEWED

Source sequence(s)

CP068264

UniProtKB/TrEMBL

Q4VBR4
NM_004993.6 → NP_004984.2 ataxin-3 reference isoform

See identical proteins and their annotated locations for NP_004984.2

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

A7LFZ5, D6RDL9, E9PB63, O15284, O15285, O15286, P54252, Q8N189, Q96TC3, Q96TC4, Q9H3N0

UniProtKB/TrEMBL

Q4VBR4

Related

ENSP00000496695.1, ENST00000644486.2

Conserved Domains (2) summary

pfam02099
Location:11 → 163

Josephin; Josephin

pfam16619
Location:264 → 328

SUIM_assoc; Unstructured region C-term to UIM in Ataxin3
NM_030660.5 → NP_109376.1 ataxin-3 isoform h

See identical proteins and their annotated locations for NP_109376.1

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

Consensus CDS

CCDS32143.1

UniProtKB/TrEMBL

D3VVK3

Related

ENSP00000339110.6, ENST00000340660.10

Conserved Domains (2) summary

pfam02099
Location:10 → 108

Josephin; Josephin

pfam16619
Location:209 → 273

SUIM_assoc; Unstructured region C-term to UIM in Ataxin3

RNA

NR_028453.2 RNA Sequence

Status: REVIEWED

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
NR_028454.2 RNA Sequence

Status: REVIEWED

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
NR_028455.2 RNA Sequence

Status: REVIEWED

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
NR_028456.2 RNA Sequence

Status: REVIEWED

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
NR_028457.2 RNA Sequence

Status: REVIEWED

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
NR_028458.2 RNA Sequence

Status: REVIEWED

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
NR_028459.2 RNA Sequence

Status: REVIEWED

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
NR_028460.2 RNA Sequence

Status: REVIEWED

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
NR_028461.2 RNA Sequence

Status: REVIEWED

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
NR_028462.2 RNA Sequence

Status: REVIEWED

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
NR_028463.2 RNA Sequence

Status: REVIEWED

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
NR_028464.2 RNA Sequence

Status: REVIEWED

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
NR_028465.2 RNA Sequence

Status: REVIEWED

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
NR_028466.2 RNA Sequence

Status: REVIEWED

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
NR_028467.2 RNA Sequence

Status: REVIEWED

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
NR_028468.2 RNA Sequence

Status: REVIEWED

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
NR_028469.2 RNA Sequence

Status: REVIEWED

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
NR_028470.2 RNA Sequence

Status: REVIEWED

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
NR_031765.2 RNA Sequence

Status: REVIEWED

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
NR_187583.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL049872, AL121773
NR_187584.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL049872, AL121773

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

92044775..92106582 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

86274279..86336122 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001024631.1: Suppressed sequence

Description

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