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    ATOSB atos homolog B [ Homo sapiens (human) ]

    Gene ID: 80256, updated on 9-Dec-2024

    Summary

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    Official Symbol
    ATOSBprovided by HGNC
    Official Full Name
    atos homolog Bprovided by HGNC
    Primary source
    HGNC:HGNC:25666
    See related
    Ensembl:ENSG00000005238 MIM:620169; AllianceGenome:HGNC:25666
    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
    FAM214B; KIAA1539
    Summary
    Located in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 10.7), spleen (RPKM 6.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ATOSB in Genome Data Viewer
    Location:
    9p13.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (35104117..35116380, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (35123295..35135568, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35104114..35115859, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol glycan anchor biosynthesis class O Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28320 Neighboring gene PIGO antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28321 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28322 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28323 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28324 Neighboring gene stomatin like 2 Neighboring gene GATA motif-containing MPRA enhancer 90 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19861 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:35113841-35114670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19862 Neighboring gene zinc finger protein 492 pseudogene Neighboring gene uncharacterized LOC124902147

    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. Macrophage mitochondrial bioenergetics and tissue invasion are boosted by an Atossa-Porthos axis in Drosophila. Emtenani S, et al. EMBO J, 2022 Jun 14. PMID 35319107, Free PMC Article
    2. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Apr 28. PMID 10819331
    3. CFTR interactome mapping using the mammalian membrane two-hybrid high-throughput screening system. Lim SH, et al. Mol Syst Biol, 2022 Feb. PMID 35156780, Free PMC Article
    4. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. Simpson JC, et al. EMBO Rep, 2000 Sep. PMID 11256614, Free PMC Article
    5. An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. Chen S, et al. Nat Genet, 2018 Jul. PMID 29892012, Free PMC Article

    See all (21) 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

    Clone Names

    • FLJ11560, KIAA1539

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    atos homolog protein B
    Names
    family with sequence similarity 214 member B
    protein FAM214B

    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_001317991.2 → NP_001304920.1  atos homolog protein B

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL353795, AL583909, BC004406
      Consensus CDS
      CCDS6578.1
      UniProtKB/Swiss-Prot
      B1AML4, B1AML5, D3DRN5, O60377, Q7L5A3, Q9BQ60, Q9HAI9, Q9P1Y9
      Related
      ENSP00000367819.1, ENST00000378557.1
      Conserved Domains (2) summary
      pfam13889
      Location:480 → 536
      Chromosome_seg; Chromosome segregation during meiosis
      pfam13915
      Location:348 → 402
      DUF4210; Domain of unknown function (DUF4210)

    2. NM_025182.4 → NP_079458.2  atos homolog protein B

      See identical proteins and their annotated locations for NP_079458.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the functional protein. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL353795, BC004406
      Consensus CDS
      CCDS6578.1
      UniProtKB/Swiss-Prot
      B1AML4, B1AML5, D3DRN5, O60377, Q7L5A3, Q9BQ60, Q9HAI9, Q9P1Y9
      Related
      ENSP00000319897.5, ENST00000322813.10
      Conserved Domains (2) summary
      pfam13889
      Location:480 → 536
      Chromosome_seg; Chromosome segregation during meiosis
      pfam13915
      Location:348 → 402
      DUF4210; Domain of unknown function (DUF4210)

    RNA

    1. NR_134455.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses alternate splice sites in multiple exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK022837, AL353795, BC004406, DA804086
      Related
      ENST00000378566.5

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      35104117..35116380 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005251591.2 → XP_005251648.1  atos homolog protein B isoform X1

      See identical proteins and their annotated locations for XP_005251648.1

      UniProtKB/Swiss-Prot
      B1AML4, B1AML5, D3DRN5, O60377, Q7L5A3, Q9BQ60, Q9HAI9, Q9P1Y9
      Related
      ENSP00000474833.1, ENST00000605244.5
      Conserved Domains (2) summary
      pfam13889
      Location:480 → 536
      Chromosome_seg; Chromosome segregation during meiosis
      pfam13915
      Location:348 → 402
      DUF4210; Domain of unknown function (DUF4210)

    2. XM_024447689.2 → XP_024303457.1  atos homolog protein B isoform X1

      UniProtKB/Swiss-Prot
      B1AML4, B1AML5, D3DRN5, O60377, Q7L5A3, Q9BQ60, Q9HAI9, Q9P1Y9
      Conserved Domains (2) summary
      pfam13889
      Location:480 → 536
      Chromosome_seg; Chromosome segregation during meiosis
      pfam13915
      Location:348 → 402
      DUF4210; Domain of unknown function (DUF4210)

    3. XM_047423916.1 → XP_047279872.1  atos homolog protein B isoform X3

    4. XM_047423908.1 → XP_047279864.1  atos homolog protein B isoform X1

      UniProtKB/Swiss-Prot
      B1AML4, B1AML5, D3DRN5, O60377, Q7L5A3, Q9BQ60, Q9HAI9, Q9P1Y9

    5. XM_047423917.1 → XP_047279873.1  atos homolog protein B isoform X3

    6. XM_047423914.1 → XP_047279870.1  atos homolog protein B isoform X3

    7. XM_047423920.1 → XP_047279876.1  atos homolog protein B isoform X4

    8. XM_047423913.1 → XP_047279869.1  atos homolog protein B isoform X3

    9. XM_047423910.1 → XP_047279866.1  atos homolog protein B isoform X2

    10. XM_005251588.2 → XP_005251645.1  atos homolog protein B isoform X1

      See identical proteins and their annotated locations for XP_005251645.1

      UniProtKB/Swiss-Prot
      B1AML4, B1AML5, D3DRN5, O60377, Q7L5A3, Q9BQ60, Q9HAI9, Q9P1Y9
      Conserved Domains (2) summary
      pfam13889
      Location:480 → 536
      Chromosome_seg; Chromosome segregation during meiosis
      pfam13915
      Location:348 → 402
      DUF4210; Domain of unknown function (DUF4210)

    11. XM_047423918.1 → XP_047279874.1  atos homolog protein B isoform X3

    12. XM_011518037.2 → XP_011516339.1  atos homolog protein B isoform X1

      See identical proteins and their annotated locations for XP_011516339.1

      UniProtKB/Swiss-Prot
      B1AML4, B1AML5, D3DRN5, O60377, Q7L5A3, Q9BQ60, Q9HAI9, Q9P1Y9
      Related
      ENSP00000475120.1, ENST00000488109.6
      Conserved Domains (2) summary
      pfam13889
      Location:480 → 536
      Chromosome_seg; Chromosome segregation during meiosis
      pfam13915
      Location:348 → 402
      DUF4210; Domain of unknown function (DUF4210)

    13. XM_005251590.2 → XP_005251647.1  atos homolog protein B isoform X1

      See identical proteins and their annotated locations for XP_005251647.1

      UniProtKB/Swiss-Prot
      B1AML4, B1AML5, D3DRN5, O60377, Q7L5A3, Q9BQ60, Q9HAI9, Q9P1Y9
      Conserved Domains (2) summary
      pfam13889
      Location:480 → 536
      Chromosome_seg; Chromosome segregation during meiosis
      pfam13915
      Location:348 → 402
      DUF4210; Domain of unknown function (DUF4210)

    14. XM_047423919.1 → XP_047279875.1  atos homolog protein B isoform X3

    15. XM_047423912.1 → XP_047279868.1  atos homolog protein B isoform X2

    16. XM_047423915.1 → XP_047279871.1  atos homolog protein B isoform X3

    17. XM_047423911.1 → XP_047279867.1  atos homolog protein B isoform X2

    18. XM_047423907.1 → XP_047279863.1  atos homolog protein B isoform X1

      UniProtKB/Swiss-Prot
      B1AML4, B1AML5, D3DRN5, O60377, Q7L5A3, Q9BQ60, Q9HAI9, Q9P1Y9
      Related
      ENSP00000367823.1, ENST00000378561.5

    19. XM_047423909.1 → XP_047279865.1  atos homolog protein B isoform X1

      UniProtKB/Swiss-Prot
      B1AML4, B1AML5, D3DRN5, O60377, Q7L5A3, Q9BQ60, Q9HAI9, Q9P1Y9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      35123295..35135568 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363886.1 → XP_054219861.1  atos homolog protein B isoform X1

      UniProtKB/Swiss-Prot
      B1AML4, B1AML5, D3DRN5, O60377, Q7L5A3, Q9BQ60, Q9HAI9, Q9P1Y9

    2. XM_054363885.1 → XP_054219860.1  atos homolog protein B isoform X1

      UniProtKB/Swiss-Prot
      B1AML4, B1AML5, D3DRN5, O60377, Q7L5A3, Q9BQ60, Q9HAI9, Q9P1Y9

    3. XM_054363896.1 → XP_054219871.1  atos homolog protein B isoform X3

    4. XM_054363888.1 → XP_054219863.1  atos homolog protein B isoform X1

      UniProtKB/Swiss-Prot
      B1AML4, B1AML5, D3DRN5, O60377, Q7L5A3, Q9BQ60, Q9HAI9, Q9P1Y9

    5. XM_054363897.1 → XP_054219872.1  atos homolog protein B isoform X3

    6. XM_054363895.1 → XP_054219870.1  atos homolog protein B isoform X3

    7. XM_054363900.1 → XP_054219875.1  atos homolog protein B isoform X4

    8. XM_054363893.1 → XP_054219868.1  atos homolog protein B isoform X3

    9. XM_054363890.1 → XP_054219865.1  atos homolog protein B isoform X2

    10. XM_054363882.1 → XP_054219857.1  atos homolog protein B isoform X1

      UniProtKB/Swiss-Prot
      B1AML4, B1AML5, D3DRN5, O60377, Q7L5A3, Q9BQ60, Q9HAI9, Q9P1Y9

    11. XM_054363898.1 → XP_054219873.1  atos homolog protein B isoform X3

    12. XM_054363883.1 → XP_054219858.1  atos homolog protein B isoform X1

      UniProtKB/Swiss-Prot
      B1AML4, B1AML5, D3DRN5, O60377, Q7L5A3, Q9BQ60, Q9HAI9, Q9P1Y9

    13. XM_054363887.1 → XP_054219862.1  atos homolog protein B isoform X1

      UniProtKB/Swiss-Prot
      B1AML4, B1AML5, D3DRN5, O60377, Q7L5A3, Q9BQ60, Q9HAI9, Q9P1Y9

    14. XM_054363899.1 → XP_054219874.1  atos homolog protein B isoform X3

    15. XM_054363892.1 → XP_054219867.1  atos homolog protein B isoform X2

    16. XM_054363894.1 → XP_054219869.1  atos homolog protein B isoform X3

    17. XM_054363891.1 → XP_054219866.1  atos homolog protein B isoform X2

    18. XM_054363884.1 → XP_054219859.1  atos homolog protein B isoform X1

      UniProtKB/Swiss-Prot
      B1AML4, B1AML5, D3DRN5, O60377, Q7L5A3, Q9BQ60, Q9HAI9, Q9P1Y9

    19. XM_054363889.1 → XP_054219864.1  atos homolog protein B isoform X1

      UniProtKB/Swiss-Prot
      B1AML4, B1AML5, D3DRN5, O60377, Q7L5A3, Q9BQ60, Q9HAI9, Q9P1Y9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7L5A3.1 GenPept UniProtKB/Swiss-Prot:Q7L5A3

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