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    BSDC1 BSD domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 55108, updated on 26-Nov-2024

    Summary

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    Official Symbol
    BSDC1provided by HGNC
    Official Full Name
    BSD domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:25501
    See related
    Ensembl:ENSG00000160058 MIM:617518; AllianceGenome:HGNC:25501
    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
    Summary
    Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 21.8), adrenal (RPKM 17.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BSDC1 in Genome Data Viewer
    Location:
    1p35.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (32364633..32394441, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (32222548..32252357, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (32830234..32860042, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903933 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 598 Neighboring gene family with sequence similarity 229 member A Neighboring gene testis specific serine kinase 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:32859083-32859780 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:32859781-32860476 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:32861175-32861870 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 689 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 20 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 690 Neighboring gene leucine rich repeat containing 37 member A12, 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
    • 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. Characterization of the epithelial membrane protein 3 interaction network reveals a potential functional link to mitogenic signal transduction regulation. Christians A, et al. Int J Cancer, 2019 Jul 15. PMID 30614533
    2. A kinesin-1 binding motif in vaccinia virus that is widespread throughout the human genome. Dodding MP, et al. EMBO J, 2011 Nov 16. PMID 21915095, Free PMC Article
    3. Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes. Fu GK, et al. Genomics, 2004 Jul. PMID 15203218
    4. Hypertonicity-responsive ubiquitin ligase RNF183 promotes Na, K-ATPase lysosomal degradation through ubiquitination of its β1 subunit. Okamoto T, et al. Biochem Biophys Res Commun, 2020 Jan 22. PMID 31732153
    5. Interrogating the protein interactomes of RAS isoforms identifies PIP5K1A as a KRAS-specific vulnerability. Adhikari H, et al. Nat Commun, 2018 Sep 7. PMID 30194290, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    BSD domain-containing protein 1

    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_001143888.3 → NP_001137360.1  BSD domain-containing protein 1 isoform a

      See identical proteins and their annotated locations for NP_001137360.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform a.
      Source sequence(s)
      AK300306, BM760887, BP363955, BQ222609, CN302967, DB159029, DB213122
      Consensus CDS
      CCDS44103.1
      UniProtKB/TrEMBL
      B7ZA57
      Related
      ENSP00000397759.2, ENST00000446293.6
      Conserved Domains (1) summary
      pfam03909
      Location:163 → 219
      BSD; BSD domain

    2. NM_001143889.3 → NP_001137361.1  BSD domain-containing protein 1 isoform c

      See identical proteins and their annotated locations for NP_001137361.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AK297604, BP363955, BQ222609, CN302967, DB159029, DB213122
      Consensus CDS
      CCDS44102.1
      UniProtKB/TrEMBL
      B7ZA57
      Related
      ENSP00000405752.2, ENST00000419121.6
      Conserved Domains (1) summary
      pfam03909
      Location:90 → 146
      BSD; BSD domain

    3. NM_001143890.3 → NP_001137362.1  BSD domain-containing protein 1 isoform d

      See identical proteins and their annotated locations for NP_001137362.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks two alternate in-frame exons, compared to variant 1. The encoded isoform (d) is shorter than isoform a.
      Source sequence(s)
      AK304477, BQ222609, CN302967, DB159029, DB213122
      Consensus CDS
      CCDS44101.1
      UniProtKB/TrEMBL
      B7ZA57
      Related
      ENSP00000432382.1, ENST00000526031.5
      Conserved Domains (1) summary
      pfam03909
      Location:51 → 107
      BSD; BSD domain

    4. NM_001300958.2 → NP_001287887.1  BSD domain-containing protein 1 isoform e

      See identical proteins and their annotated locations for NP_001287887.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains an alternate segment in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (e) has a distinct C-terminus and is longer than isoform a.
      Source sequence(s)
      AL109945, BP363955, BQ222609, BQ721446, BX505149, BX641056, CN302967, DA573011, DB159029, DB213122
      Consensus CDS
      CCDS72752.1
      UniProtKB/Swiss-Prot
      Q9NW68
      Related
      ENSP00000344816.7, ENST00000341071.11
      Conserved Domains (1) summary
      pfam03909
      Location:163 → 219
      BSD; BSD domain

    5. NM_018045.8 → NP_060515.3  BSD domain-containing protein 1 isoform b

      See identical proteins and their annotated locations for NP_060515.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      BC028381, BP363955, BQ222609, CD628901, DB159029, DB213122
      Consensus CDS
      CCDS363.2
      UniProtKB/Swiss-Prot
      B4DMS7, B4DTI7, B4DTP7, B4E2X8, Q49AT8, Q68DY6, Q6IAA3, Q6MZK1, Q6UXS1, Q9HAL9, Q9NW68
      UniProtKB/TrEMBL
      B7ZA57
      Related
      ENSP00000412173.2, ENST00000455895.7
      Conserved Domains (1) summary
      pfam03909
      Location:146 → 202
      BSD; BSD domain

    RNA

    1. NR_125352.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses an alternate internal splice site and contains an alternate 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)
      AK297604, BC026322, BP363955, BQ222609, CN302967, DB159029, DB213122
      Related
      ENST00000444377.5

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      32364633..32394441 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423812.1 → XP_047279768.1  BSD domain-containing protein 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      32222548..32252357 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337325.1 → XP_054193300.1  BSD domain-containing protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NW68.1 GenPept UniProtKB/Swiss-Prot:Q9NW68

    Gene LinkOut

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

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