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

Gene ID: 55108, updated on 5-Sep-2021

Summary

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
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

See BSDC1 in Genome Data Viewer
Location:
1p35.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (32364633..32394441, complement)
105.20201022 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 LOC105378629 Neighboring gene testis specific serine kinase 3 Neighboring gene family with sequence similarity 229 member A Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 20 Neighboring gene leucine rich repeat containing 37 member A12, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 

General protein information

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_001143888.3NP_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/Swiss-Prot
    Q9NW68
    Related
    ENSP00000397759.2, ENST00000446293.6
    Conserved Domains (1) summary
    pfam03909
    Location:163219
    BSD; BSD domain
  2. NM_001143889.3NP_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/Swiss-Prot
    Q9NW68
    Related
    ENSP00000405752.2, ENST00000419121.6
    Conserved Domains (1) summary
    pfam03909
    Location:90146
    BSD; BSD domain
  3. NM_001143890.3NP_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/Swiss-Prot
    Q9NW68
    Related
    ENSP00000432382.1, ENST00000526031.5
    Conserved Domains (1) summary
    pfam03909
    Location:51107
    BSD; BSD domain
  4. NM_001300958.2NP_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:163219
    BSD; BSD domain
  5. NM_018045.8NP_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
    Q9NW68
    Related
    ENSP00000412173.2, ENST00000455895.7
    Conserved Domains (1) summary
    pfam03909
    Location:146202
    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: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011541677.2XP_011539979.1  BSD domain-containing protein 1 isoform X1

    Conserved Domains (1) summary
    pfam03909
    Location:151207
    BSD; BSD domain
  2. XM_005270986.4XP_005271043.1  BSD domain-containing protein 1 isoform X2

    Conserved Domains (1) summary
    pfam03909
    Location:146202
    BSD; BSD domain
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