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    UBALD1 UBA like domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 124402, updated on 27-Nov-2024

    Summary

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    Official Symbol
    UBALD1provided by HGNC
    Official Full Name
    UBA like domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:29576
    See related
    Ensembl:ENSG00000153443 AllianceGenome:HGNC:29576
    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
    FAM100A; PP11303
    Expression
    Ubiquitous expression in kidney (RPKM 10.6), liver (RPKM 8.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UBALD1 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (4608884..4614888, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (4638343..4644336, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (4658885..4664889, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4563218-4563745 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4563746-4564272 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4564273-4564800 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4571909-4572773 Neighboring gene cell death inducing p53 target 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4579080-4579732 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4579733-4580384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10340 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7152 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7153 Neighboring gene chromosome 16 open reading frame 96 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4604203-4604813 Neighboring gene SUB1 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4635152-4635652 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4642470-4643270 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4644073-4644872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4661103-4661738 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7155 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7154 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7156 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7157 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4665101-4665673 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4665674-4666245 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7158 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:4674556-4675086 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr16:4675087-4675616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4676147-4676675 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4687274-4688238 Neighboring gene RNA, 7SL, cytoplasmic 850, pseudogene Neighboring gene mahogunin ring finger 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4697151-4697650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4704147-4704648 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4704649-4705148 Neighboring gene Sharpr-MPRA regulatory region 2432 Neighboring gene microRNA 6769a

    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. Large-scale cDNA transfection screening for genes related to cancer development and progression. Wan D, et al. Proc Natl Acad Sci U S A, 2004 Nov 2. PMID 15498874, Free PMC Article
    2. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    3. A human protein-protein interaction network: a resource for annotating the proteome. Stelzl U, et al. Cell, 2005 Sep 23. PMID 16169070
    4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (7) 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

    • FLJ31223, FLJ32185

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    UBA-like domain-containing protein 1
    Names
    family with sequence similarity 100, member A
    protein FAM100A

    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_001330467.2 → NP_001317396.1  UBA-like domain-containing protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame 3' terminal exon compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC023830
      Consensus CDS
      CCDS81944.1
      UniProtKB/TrEMBL
      K7EM88
      Related
      ENSP00000466404.1, ENST00000587615.1
      Conserved Domains (1) summary
      cd14343
      Location:10 → 48
      UBA_F100B_like; UBA-like domain found in protein FAM100B

    2. NM_001411032.1 → NP_001397961.1  UBA-like domain-containing protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC023830
      Consensus CDS
      CCDS92096.1
      UniProtKB/TrEMBL
      K7EKR5
      Related
      ENSP00000465745.1, ENST00000587649.1

    3. NM_145253.3 → NP_660296.1  UBA-like domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_660296.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC023830
      Consensus CDS
      CCDS10518.1
      UniProtKB/Swiss-Prot
      Q71MF6, Q8TB05
      UniProtKB/TrEMBL
      K7EQ49
      Related
      ENSP00000283474.6, ENST00000283474.12
      Conserved Domains (2) summary
      PHA03247
      Location:64 → 176
      PHA03247; large tegument protein UL36; Provisional
      cd14343
      Location:10 → 48
      UBA_F100B_like; UBA-like domain found in protein FAM100B

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      4608884..4614888 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      4638343..4644336 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379605.1 → XP_054235580.1  UBA-like domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      D3DUE0, D3DUE1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TB05.1 GenPept UniProtKB/Swiss-Prot:Q8TB05

    Gene LinkOut

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

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