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    PAX5 paired box 5 [ Homo sapiens (human) ]

    Gene ID: 5079, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PAX5provided by HGNC
    Official Full Name
    paired box 5provided by HGNC
    Primary source
    HGNC:HGNC:8619
    See related
    Ensembl:ENSG00000196092 MIM:167414; AllianceGenome:HGNC:8619
    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
    ALL3; BSAP; PAX-5
    Summary
    This gene encodes a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding motif, known as the paired box. Paired box transcription factors are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. This gene encodes the B-cell lineage specific activator protein that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis and so the encoded protein may also play a role in neural development and spermatogenesis. This gene is located at 9p13, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas. This translocation brings the potent E-mu enhancer of the IgH gene into close proximity of the PAX5 promoter, suggesting that the deregulation of transcription of this gene contributes to the pathogenesis of these lymphomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
    Expression
    Biased expression in lymph node (RPKM 16.7), spleen (RPKM 9.5) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PAX5 in Genome Data Viewer
    Location:
    9p13.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (36833269..37034268, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (36856835..37057984, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (36833266..37034265, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:36584821-36585797 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:36596422-36596589 Neighboring gene maternal embryonic leucine zipper kinase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28355 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:36725931-36726432 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:36738402-36739601 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19897 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:36756569-36756775 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:36764310-36764828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:36764829-36765347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28356 Neighboring gene uncharacterized LOC105376030 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:36820286-36820786 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:36848015-36848854 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:36851359-36852558 Neighboring gene microRNA 4475 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28357 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:36867937-36868628 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:36879416-36880112 Neighboring gene microRNA 4540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:36900581-36901081 Neighboring gene MTA1-activated intronic PAX5 enhancer Neighboring gene microRNA 4476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28359 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28361 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:36947656-36948180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:36961379-36962370 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:36962371-36963361 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:36980425-36980924 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:36986501-36987456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28363 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28365 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:36996149-36996649 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:36997151-36997666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:36997667-36998181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28368 Neighboring gene uncharacterized LOC105376032 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28370 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19899 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28371 Neighboring gene Sharpr-MPRA regulatory region 11996 Neighboring gene uncharacterized LOC105376031 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:37028766-37029440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28373 Neighboring gene PAX5 promoter region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28374 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19902 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28375 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:37037999-37038576 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:37053864-37054416 Neighboring gene MPRA-validated peak7233 silencer Neighboring gene ribosomal protein L32 pseudogene 21 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28377 Neighboring gene endogenous Bornavirus like nucleoprotein 3, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. [Effect of pax5 gene blocked by RNAi on biological characteristics of B cell malignant lymphoma]. Yuan XL, et al. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2008 Aug. PMID 18718064
    2. Identification of Significant Pathways Induced by PAX5 Haploinsufficiency Based on Protein-Protein Interaction Networks and Cluster Analysis in Raji Cell Line. Gu J, et al. Biomed Res Int, 2017. PMID 28316978, Free PMC Article
    3. The correlation between Pax5 deletion and patients survival in Iranian children with precursor B-cell acute lymphocytic leukemia. Moafi A, et al. Cell Mol Biol (Noisy-le-grand), 2017 Aug 30. PMID 28886309
    4. Rare lymphoid neoplasms coexpressing B- and T-cell antigens. The role of PAX-5 gene methylation in their pathogenesis. Lazzi S, et al. Hum Pathol, 2009 Sep. PMID 19368954
    5. PAX5 gene as a novel methylation marker that predicts both clinical outcome and cisplatin sensitivity in esophageal squamous cell carcinoma. Kurimoto K, et al. Epigenetics, 2017. PMID 29099287, Free PMC Article

    See all (212) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Understanding the function of Pax5 in development of docetaxel-resistant neuroendocrine-like prostate cancers.
      Title: Understanding the function of Pax5 in development of docetaxel-resistant neuroendocrine-like prostate cancers.
    2. The transcription factor PAX5 activates human LINE1 retrotransposons to induce cellular senescence.
      Title: The transcription factor PAX5 activates human LINE1 retrotransposons to induce cellular senescence.
    3. Diagnostic efficacy of SEPT9 and PAX5 gene methylation in gastrointestinal cancer and precancerous lesions.
      Title: Diagnostic efficacy of SEPT9 and PAX5 gene methylation in gastrointestinal cancer and precancerous lesions.
    4. EBF1, PAX5, and MYC: regulation on B cell development and association with hematologic neoplasms.
      Title: EBF1, PAX5, and MYC: regulation on B cell development and association with hematologic neoplasms.
    5. PAX5 fusion genes in acute lymphoblastic leukemia: A literature review.
      Title: PAX5 fusion genes in acute lymphoblastic leukemia: A literature review.
    6. FOXO1 and PAX5 Rearrangement in Alveolar Rhabdomyosarcoma in Saudi Pediatric Patients.
      Title: FOXO1 and PAX5 Rearrangement in Alveolar Rhabdomyosarcoma in Saudi Pediatric Patients.
    7. PAX5 aberrant expression incorporated in MIPI-SP risk scoring system exhibits additive value in mantle cell lymphoma.
      Title: PAX5 aberrant expression incorporated in MIPI-SP risk scoring system exhibits additive value in mantle cell lymphoma.
    8. Functional damaging germline variants in ETV6, IKZF1, PAX5 and RUNX1 predisposing to B-cell precursor acute lymphoblastic leukemia.
      Title: Functional damaging germline variants in ETV6, IKZF1, PAX5 and RUNX1 predisposing to B-cell precursor acute lymphoblastic leukemia.
    9. Type 2 diabetes candidate genes, including PAX5, cause impaired insulin secretion in human pancreatic islets.
      Title: Type 2 diabetes candidate genes, including PAX5, cause impaired insulin secretion in human pancreatic islets.
    10. PAX5/ITGAX Contributed to the Progression of Atherosclerosis by Regulation of B Differentiation via TNF-alpha Signaling Pathway.
      Title: PAX5/ITGAX Contributed to the Progression of Atherosclerosis by Regulation of B Differentiation via TNF-α Signaling Pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (175)

    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
    Leukemia, acute lymphoblastic, susceptibility to, 3
    MedGen: C3809874 OMIM: 615545 GeneReviews: Not available
    		not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2022-05-24)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2022-05-24)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Genome-wide association study of intelligence: additive effects of novel brain expressed genes.
    EBI GWAS Catalog
    Genome-wide scan for loci of adolescent obesity and their relationship with blood pressure.
    EBI GWAS Catalog

    Variation

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    See Variation Viewer (GRCh37.p13)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in B cell differentiation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in adult behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cerebral cortex development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in embryonic cranial skeleton morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lateral ventricle development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sensory organ development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in skeletal muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    paired box protein Pax-5
    Names
    B-cell lineage specific activator
    paired box homeotic gene 5
    paired domain gene 5
    transcription factor PAX 5

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_033894.1 RefSeqGene

      Range
      5212..206211
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1384

    mRNA and Protein(s)

    1. NM_001280547.2 → NP_001267476.1  paired box protein Pax-5 isoform 2

      See identical proteins and their annotated locations for NP_001267476.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AL161781, AL450267, AY463954
      Consensus CDS
      CCDS65047.1
      UniProtKB/Swiss-Prot
      Q02548
      Related
      ENSP00000367083.2, ENST00000377852.7
      Conserved Domains (2) summary
      smart00351
      Location:16 → 140
      PAX; Paired Box domain
      pfam12403
      Location:279 → 355
      Pax2_C; Paired-box protein 2 C terminal

    2. NM_001280548.2 → NP_001267477.1  paired box protein Pax-5 isoform 3

      See identical proteins and their annotated locations for NP_001267477.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
      Source sequence(s)
      AL161781, AL450267, AY463955
      Consensus CDS
      CCDS65048.1
      UniProtKB/Swiss-Prot
      Q02548
      Related
      ENSP00000367084.2, ENST00000377853.6
      Conserved Domains (2) summary
      smart00351
      Location:16 → 140
      PAX; Paired Box domain
      pfam12403
      Location:279 → 341
      Pax2_C; Paired-box protein 2 C terminal

    3. NM_001280549.2 → NP_001267478.1  paired box protein Pax-5 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two consecutive exons in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (4) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL161781, AL450267, AY463956
      Consensus CDS
      CCDS65045.1
      UniProtKB/TrEMBL
      E7EQT0
      Related
      ENSP00000429637.1, ENST00000523241.6
      Conserved Domains (1) summary
      smart00351
      Location:16 → 140
      PAX; Paired Box domain

    4. NM_001280550.2 → NP_001267479.1  paired box protein Pax-5 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks three consecutive exons in the 3' coding, which results in a frameshift, compared to variant 1. The encoded isoform (5) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL161781, AL450267, AY463957
      Consensus CDS
      CCDS65044.1
      UniProtKB/TrEMBL
      E7ERW5
      Related
      ENSP00000429291.1, ENST00000520154.6
      Conserved Domains (1) summary
      smart00351
      Location:16 → 140
      PAX; Paired Box domain

    5. NM_001280551.2 → NP_001267480.1  paired box protein Pax-5 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks several exons and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (6) is shorter, compared to isoform 1.
      Source sequence(s)
      AL161781, AL450267, FJ626410, FJ626420
      Consensus CDS
      CCDS65039.1
      UniProtKB/TrEMBL
      E7ES87
      Related
      ENSP00000429197.1, ENST00000523145.5
      Conserved Domains (1) summary
      cl21459
      Location:1 → 34
      HTH; Helix-turn-helix domains

    6. NM_001280552.2 → NP_001267481.1  paired box protein Pax-5 isoform 7

      See identical proteins and their annotated locations for NP_001267481.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks two consecutive in-frame exons in the 3' coding region, compared to variant 1. The encoded isoform (7) is shorter, compared to isoform 1.
      Source sequence(s)
      AL161781, AL450267, FJ626421
      Consensus CDS
      CCDS65046.1
      UniProtKB/Swiss-Prot
      Q02548
      Related
      ENSP00000367078.2, ENST00000377847.6
      Conserved Domains (1) summary
      smart00351
      Location:16 → 140
      PAX; Paired Box domain

    7. NM_001280553.2 → NP_001267482.1  paired box protein Pax-5 isoform 8

      See identical proteins and their annotated locations for NP_001267482.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks two alternate exons in the central and 3' coding region, compared to variant 1. The encoded isoform (8) is shorter, compared to isoform 1.
      Source sequence(s)
      AL161781, AL450267, FJ626423
      Consensus CDS
      CCDS65042.1
      UniProtKB/Swiss-Prot
      Q02548
      Related
      ENSP00000430773.1, ENST00000520281.5
      Conserved Domains (2) summary
      smart00351
      Location:16 → 140
      PAX; Paired Box domain
      pfam12403
      Location:236 → 298
      Pax2_C; Paired-box protein 2 C terminal

    8. NM_001280554.2 → NP_001267483.1  paired box protein Pax-5 isoform 9

      See identical proteins and their annotated locations for NP_001267483.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (9) is shorter, compared to isoform 1.
      Source sequence(s)
      AL161781, AL450267, FJ626422
      Consensus CDS
      CCDS65043.1
      UniProtKB/Swiss-Prot
      Q02548
      Related
      ENSP00000412188.1, ENST00000414447.5
      Conserved Domains (2) summary
      smart00351
      Location:16 → 140
      PAX; Paired Box domain
      pfam12403
      Location:236 → 347
      Pax2_C; Paired-box protein 2 C terminal

    9. NM_001280555.2 → NP_001267484.1  paired box protein Pax-5 isoform 10

      See identical proteins and their annotated locations for NP_001267484.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) lacks two alternate exons in the central and 3' coding region, compared to variant 1. The encoded isoform (10) is shorter, compared to isoform 1.
      Source sequence(s)
      AL161781, AL450267, FJ626424, M96944
      Consensus CDS
      CCDS65041.1
      UniProtKB/Swiss-Prot
      Q02548
      Related
      ENSP00000404687.1, ENST00000446742.5
      Conserved Domains (2) summary
      pfam12403
      Location:213 → 290
      Pax2_C; Paired-box protein 2 C terminal
      cl21459
      Location:16 → 80
      HTH; Helix-turn-helix domains

    10. NM_001280556.2 → NP_001267485.1  paired box protein Pax-5 isoform 11

      See identical proteins and their annotated locations for NP_001267485.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (11) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AL161781, AL450267, M96944
      Consensus CDS
      CCDS65040.1
      UniProtKB/TrEMBL
      E7ERK2
      Related
      ENSP00000429359.1, ENST00000522003.5
      Conserved Domains (2) summary
      pfam12403
      Location:171 → 281
      Pax2_C; Paired-box protein 2 C terminal
      cl21459
      Location:1 → 34
      HTH; Helix-turn-helix domains

    11. NM_016734.3 → NP_057953.1  paired box protein Pax-5 isoform 1

      See identical proteins and their annotated locations for NP_057953.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL161781, AL450267, M96944
      Consensus CDS
      CCDS6607.1
      UniProtKB/Swiss-Prot
      A3QVP7, C0KTF6, C0KTF7, C0KTF8, C0KTF9, C0KTG0, O75933, Q02548, Q5SFM2, Q6S728, Q6S729, Q6S730, Q6S731, Q6S732
      Related
      ENSP00000350844.4, ENST00000358127.9
      Conserved Domains (2) summary
      smart00351
      Location:16 → 140
      PAX; Paired Box domain
      pfam12403
      Location:279 → 389
      Pax2_C; Paired-box protein 2 C terminal

    RNA

    1. NR_103999.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL161781, AL450267, AY463953

    2. NR_104000.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL161781, AL450267, FJ626425

    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

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      36833269..37034268 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      36856835..37057984 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q02548.1 GenPept UniProtKB/Swiss-Prot:Q02548

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous