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    UBAP1L ubiquitin associated protein 1 like [ Homo sapiens (human) ]

    Gene ID: 390595, updated on 10-Dec-2024

    Summary

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    Official Symbol
    UBAP1Lprovided by HGNC
    Official Full Name
    ubiquitin associated protein 1 likeprovided by HGNC
    Primary source
    HGNC:HGNC:40028
    See related
    Ensembl:ENSG00000246922 AllianceGenome:HGNC:40028
    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
    UBAP-1L
    Summary
    Predicted to enable ubiquitin binding activity. Predicted to be involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway. Predicted to be part of ESCRT I complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in skin (RPKM 1.3), ovary (RPKM 1.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UBAP1L in Genome Data Viewer
    Location:
    15q22.31
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (65092760..65115200, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (62892460..62924625, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (65385098..65407538, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65346770-65347270 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65347271-65347771 Neighboring gene RAS like family 12 Neighboring gene SLC51 subunit beta Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65363995-65364494 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65377155-65377680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65378209-65378734 Neighboring gene kelch repeat and BTB domain containing 13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9592 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65379400-65380041 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65385262-65385762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65386379-65386880 Neighboring gene programmed cell death 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6551 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9593 Neighboring gene caseinolytic mitochondrial matrix peptidase chaperone subunit X Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:65477313-65478197

    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. Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration. Han JH, et al. Genet Med, 2024 Jun. PMID 38420906
    2. Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy. Zeitz C, et al. Genet Med, 2024 Jun. PMID 38293907
    3. UMA and MABP domains throw light on receptor endocytosis and selection of endosomal cargoes. de Souza RF, et al. Bioinformatics, 2010 Jun 15. PMID 20448139, Free PMC Article
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.
      Title: Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.
    2. Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy.
      Title: Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy.
    Submit: New GeneRIF Correction

    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)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ubiquitin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of ESCRT I complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ubiquitin-associated protein 1-like

    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_001163692.2 → NP_001157164.1  ubiquitin-associated protein 1-like

      See identical proteins and their annotated locations for NP_001157164.1

      Status: VALIDATED

      Source sequence(s)
      AC013553
      Consensus CDS
      CCDS53948.1
      UniProtKB/Swiss-Prot
      F5GYI3
      Related
      ENSP00000454012.1, ENST00000559089.6
      Conserved Domains (1) summary
      cd14316
      Location:341 → 377
      UBA2_UBAP1_like; UBA2 domain found in ubiquitin-associated protein 1 (UBAP-1) and similar proteins

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      65092760..65115200 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521547.4 → XP_011519849.1  ubiquitin-associated protein 1-like isoform X1

    2. XM_017022172.3 → XP_016877661.1  ubiquitin-associated protein 1-like isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      62892460..62924625 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377895.1 → XP_054233870.1  ubiquitin-associated protein 1-like isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    F5GYI3.1 GenPept UniProtKB/Swiss-Prot:F5GYI3

    Gene LinkOut

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

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