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

Gene ID: 124402, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (4608884..4614888, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (4638343..4644336, complement)
105.20220307 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)

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

  • 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_2023_10

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

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