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    BCAP29 B cell receptor associated protein 29 [ Homo sapiens (human) ]

    Gene ID: 55973, updated on 28-Oct-2024

    Summary

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    Official Symbol
    BCAP29provided by HGNC
    Official Full Name
    B cell receptor associated protein 29provided by HGNC
    Primary source
    HGNC:HGNC:24131
    See related
    Ensembl:ENSG00000075790 MIM:619612; AllianceGenome:HGNC:24131
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    B29; BAP29
    Summary
    Involved in osteoblast differentiation. Located in membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 19.4), testis (RPKM 16.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BCAP29 in Genome Data Viewer
    Location:
    7q22.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (107580007..107623317)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (108896051..108939457)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (107220452..107263762)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene component of oligomeric golgi complex 5 Neighboring gene MPRA-validated peak6680 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:107148389-107148890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:107148891-107149390 Neighboring gene G protein-coupled receptor 22 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:107204943-107206142 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18539 Neighboring gene DUS4L-BCAP29 readthrough Neighboring gene ReSE screen-validated silencer GRCh37_chr7:107204244-107204454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18540 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26493 Neighboring gene uncharacterized LOC124901856 Neighboring gene dihydrouridine synthase 4 like Neighboring gene Sharpr-MPRA regulatory region 6605 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26494 Neighboring gene WBP1L pseudogene 2 Neighboring gene BANF1 pseudogene 5

    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. Bap29varP, a variant of Bap29, influences the cell surface expression of the human P-glycoprotein. Rao PS, et al. Int J Oncol, 2008 Jan. PMID 18097552
    2. Two new proteins preferentially associated with membrane immunoglobulin D. Kim KM, et al. EMBO J, 1994 Aug 15. PMID 8070407, Free PMC Article
    3. Recurrent fusion RNA DUS4L-BCAP29 in non-cancer human tissues and cells. Tang Y, et al. Oncotarget, 2017 May 9. PMID 28415823, Free PMC Article
    4. Interaction of Bap31 and MHC class I molecules and their traffic out of the endoplasmic reticulum. Abe F, et al. J Immunol, 2009 Apr 15. PMID 19342655, Free PMC Article
    5. Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22. Evangelou E, et al. Ann Rheum Dis, 2011 Feb. PMID 21068099, Free PMC Article

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. we believe that in contrast to traditional gene fusions, DUS4L-BCAP29 cannot be used as a cancer biomarker. Instead, it is a fusion transcript that exists in normal physiology and that its pro-growth effect is not unique to cancer cells.
      Title: Recurrent fusion RNA DUS4L-BCAP29 in non-cancer human tissues and cells.
    2. Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
    4. Bap29varP acts as an essential chaperone, influencing the processing and trafficking of Pgp to the cell surface.
      Title: Bap29varP, a variant of Bap29, influences the cell surface expression of the human P-glycoprotein.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough DUS4L-BCAP29

    Readthrough gene: DUS4L-BCAP29, Included gene: DUS4L

    Homology

    Clone Names

    • FLJ53907, DKFZp686M2086

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in osteoblast differentiation HDA PubMed 
    involved_in protein localization to endoplasmic reticulum exit site IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    B-cell receptor-associated protein 29
    Names
    BCR-associated protein 29

    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.

    mRNA and Protein(s)

    1. NM_001008405.4 → NP_001008405.1  B-cell receptor-associated protein 29 isoform a

      See identical proteins and their annotated locations for NP_001008405.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC004839
      Consensus CDS
      CCDS34730.1
      UniProtKB/Swiss-Prot
      Q9UHQ4
      UniProtKB/TrEMBL
      E9PAJ1
      Related
      ENSP00000400718.2, ENST00000445771.6
      Conserved Domains (1) summary
      pfam05529
      Location:1 → 220
      Bap31; B-cell receptor-associated protein 31-like

    2. NM_001363482.1 → NP_001350411.1  B-cell receptor-associated protein 29 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4), as well as variant 8, encodes isoform c.
      Source sequence(s)
      AC004839, AC078937
      UniProtKB/TrEMBL
      H7C5E2
      Related
      ENSP00000419681.1, ENST00000491150.5
      Conserved Domains (3) summary
      PTZ00121
      Location:128 → 271
      PTZ00121; MAEBL; Provisional
      pfam05529
      Location:1 → 129
      Bap31; B-cell receptor-associated protein 31-like
      pfam18035
      Location:185 → 234
      Bap31_Bap29_C; Bap31/Bap29 cytoplasmic coiled-coil domain

    3. NM_001363483.2 → NP_001350412.1  B-cell receptor-associated protein 29 isoform d

      Status: VALIDATED

      Source sequence(s)
      AC004839
      UniProtKB/TrEMBL
      A4D0R4
      Conserved Domains (3) summary
      PTZ00121
      Location:128 → 228
      PTZ00121; MAEBL; Provisional
      pfam05529
      Location:1 → 129
      Bap31; B-cell receptor-associated protein 31-like
      pfam18035
      Location:185 → 231
      Bap31_Bap29_C; Bap31/Bap29 cytoplasmic coiled-coil domain

    4. NM_001371353.1 → NP_001358282.1  B-cell receptor-associated protein 29 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6), as well as variants 2 and 7, encodes isoform b.
      Source sequence(s)
      AC004839
      Consensus CDS
      CCDS34731.1
      UniProtKB/Swiss-Prot
      G5E9L4, O95003, Q9UHQ4
      UniProtKB/TrEMBL
      A4D0R4, E9PAJ1
      Conserved Domains (2) summary
      pfam05529
      Location:1 → 129
      Bap31; B-cell receptor-associated protein 31-like
      pfam18035
      Location:185 → 239
      Bap31_Bap29_C; Bap31/Bap29 cytoplasmic coiled-coil domain

    5. NM_001371354.1 → NP_001358283.1  B-cell receptor-associated protein 29 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7), as well as variants 2 and 6, encodes isoform b.
      Source sequence(s)
      AC004839
      Consensus CDS
      CCDS34731.1
      UniProtKB/Swiss-Prot
      G5E9L4, O95003, Q9UHQ4
      UniProtKB/TrEMBL
      A4D0R4, E9PAJ1
      Conserved Domains (2) summary
      pfam05529
      Location:1 → 129
      Bap31; B-cell receptor-associated protein 31-like
      pfam18035
      Location:185 → 239
      Bap31_Bap29_C; Bap31/Bap29 cytoplasmic coiled-coil domain

    6. NM_001371355.1 → NP_001358284.1  B-cell receptor-associated protein 29 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8), as well as variant 4, encodes isoform c.
      Source sequence(s)
      AC004839, AC078937
      UniProtKB/TrEMBL
      H7C5E2
      Conserved Domains (3) summary
      PTZ00121
      Location:128 → 271
      PTZ00121; MAEBL; Provisional
      pfam05529
      Location:1 → 129
      Bap31; B-cell receptor-associated protein 31-like
      pfam18035
      Location:185 → 234
      Bap31_Bap29_C; Bap31/Bap29 cytoplasmic coiled-coil domain

    7. NM_001371356.1 → NP_001358285.1  B-cell receptor-associated protein 29 isoform e

      Status: VALIDATED

      Source sequence(s)
      AC004839
      Conserved Domains (2) summary
      TIGR03752
      Location:120 → 198
      conj_TIGR03752; integrating conjugative element protein, PFL_4705 family
      pfam05529
      Location:1 → 129
      Bap31; B-cell receptor-associated protein 31-like

    8. NM_001371357.1 → NP_001358286.1  B-cell receptor-associated protein 29 isoform f

      Status: VALIDATED

      Source sequence(s)
      AC004839, AC078937
      UniProtKB/TrEMBL
      C9JTE9
      Related
      ENSP00000409350.1, ENST00000457837.5
      Conserved Domains (3) summary
      TIGR03752
      Location:120 → 203
      conj_TIGR03752; integrating conjugative element protein, PFL_4705 family
      pfam05529
      Location:1 → 129
      Bap31; B-cell receptor-associated protein 31-like
      pfam18035
      Location:185 → 231
      Bap31_Bap29_C; Bap31/Bap29 cytoplasmic coiled-coil domain

    9. NM_018844.4 → NP_061332.2  B-cell receptor-associated protein 29 isoform b

      See identical proteins and their annotated locations for NP_061332.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, and lacks an alternate exon in the 3' coding region that causes a frameshift, compared to variant 1. The resulting isoform (b) is shorter and has a distinct C-terminus, compared to isoform a. Variants 2, 6, and 7 all encode the same isoform (b).
      Source sequence(s)
      AC004839
      Consensus CDS
      CCDS34731.1
      UniProtKB/Swiss-Prot
      G5E9L4, O95003, Q9UHQ4
      UniProtKB/TrEMBL
      A4D0R4, E9PAJ1
      Related
      ENSP00000005259.4, ENST00000005259.9
      Conserved Domains (2) summary
      pfam05529
      Location:1 → 129
      Bap31; B-cell receptor-associated protein 31-like
      pfam18035
      Location:185 → 239
      Bap31_Bap29_C; Bap31/Bap29 cytoplasmic coiled-coil domain

    RNA

    1. NR_027830.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' region and lacks an exon in the 3' region, compared to variant 1. This variant is represented as non-coding because it lacks a portion of the 5' coding region including the translational start codon, compared to variant 1, and there is uncertainty about its coding capacity.
      Source sequence(s)
      AC004839

    2. NR_163926.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC004839, AC078937

    3. NR_163927.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC004839, AC078937

    4. NR_163928.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC004839

    5. NR_163929.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC004839

    6. NR_163930.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC004839

    7. NR_163931.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC004839

    8. NR_163932.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC004839

    9. NR_163933.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC004839

    10. NR_163934.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC004839

    11. NR_163935.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC004839

    12. NR_163936.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC004839

    13. NR_163937.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC004839

    14. NR_163938.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC004839

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      107580007..107623317
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_017852930.1 Reference GRCh38.p14 PATCHES

      Range
      425662..468267
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      108896051..108939457
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001008406.1: Suppressed sequence

      Description
      NM_001008406.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    2. NM_001008407.1: Suppressed sequence

      Description
      NM_001008407.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UHQ4.2 GenPept UniProtKB/Swiss-Prot:Q9UHQ4

    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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