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

Gene ID: 55108, updated on 5-Mar-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
Expression
Ubiquitous expression in testis (RPKM 21.8), adrenal (RPKM 17.1) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
1p35.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (32364633..32394441, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (32222548..32252357, complement)
105.20220307 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 (28) 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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10276, DKFZp686B09139

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_2023_10

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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