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

Gene ID: 55973, updated on 5-Mar-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, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 19.4), testis (RPKM 16.0) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
7q22.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (107580007..107623317)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (108896051..108939457)
105.20220307 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
  • 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. 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
  3. Two new proteins preferentially associated with membrane immunoglobulin D. Kim KM, et al. EMBO J, 1994 Aug 15. PMID 8070407, 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 (37) 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

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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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_2023_10

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

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