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    CLBA1 clathrin binding box of aftiphilin containing 1 [ Homo sapiens (human) ]

    Gene ID: 122616, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CLBA1provided by HGNC
    Official Full Name
    clathrin binding box of aftiphilin containing 1provided by HGNC
    Primary source
    HGNC:HGNC:20126
    See related
    Ensembl:ENSG00000140104 AllianceGenome:HGNC:20126
    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
    C14orf79
    Summary
    Predicted to enable clathrin binding activity. Predicted to be involved in intracellular transport. Predicted to be part of AP-1 adaptor complex. Predicted to be active in trans-Golgi network membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 5.0), thyroid (RPKM 3.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CLBA1 in Genome Data Viewer
    Location:
    14q32.33
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (104985788..105001274)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (99230266..99245748)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (105452125..105461853)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105332635-105333610 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6205 Neighboring gene microRNA 12121 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:105342668-105342853 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105343537-105344095 Neighboring gene centrosomal protein 170B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105347753-105348661 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105348662-105349569 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105372467-105373090 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:105381788-105382013 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9125 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_33759 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105391541-105392050 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105398641-105399539 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105405832-105406332 Neighboring gene phospholipase D family member 4 Neighboring gene AHNAK nucleoprotein 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_33767 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105433703-105434436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105435172-105435905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6207 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6209 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105485485-105486145 Neighboring gene H3K27ac hESC enhancers GRCh37_chr14:105486597-105487112 and GRCh37_chr14:105487627-105488140 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9128 Neighboring gene Sharpr-MPRA regulatory region 5751 Neighboring gene cell division cycle associated 4 Neighboring gene uncharacterized LOC124903398 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105499947-105500448 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6213 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9129 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105521947-105522722 Neighboring gene G protein-coupled receptor 132

    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. Humoral detection of leukaemia-associated antigens in presentation acute myeloid leukaemia. Guinn BA, et al. Biochem Biophys Res Commun, 2005 Oct 7. PMID 16112646
    2. The DNA sequence and analysis of human chromosome 14. Heilig R, et al. Nature, 2003 Feb 6. PMID 12508121
    3. The RNA binding protein MEX3A promotes tumor progression of breast cancer by post-transcriptional regulation of IGFBP4. Chen W, et al. Breast Cancer Res Treat, 2023 Oct. PMID 37433992, Free PMC Article
    4. Large-scale concatenation cDNA sequencing. Yu W, et al. Genome Res, 1997 Apr. PMID 9110174, Free PMC Article
    5. A "double adaptor" method for improved shotgun library construction. Andersson B, et al. Anal Biochem, 1996 Apr 5. PMID 8619474

    See all (13) 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables clathrin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in intracellular transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of AP-1 adaptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in trans-Golgi network membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    uncharacterized protein CLBA1
    Names
    clathrin-binding box of aftiphilin-containing protein 1
    uncharacterized protein C14orf79

    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_001364170.1 → NP_001351099.1  uncharacterized protein CLBA1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL512802
      Conserved Domains (1) summary
      pfam15045
      Location:193 → 272
      Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking

    2. NM_174891.4 → NP_777551.2  uncharacterized protein CLBA1 isoform 1

      See identical proteins and their annotated locations for NP_777551.2

      Status: VALIDATED

      Source sequence(s)
      AF038188, AK057249, AL512802
      Consensus CDS
      CCDS42000.1
      UniProtKB/Swiss-Prot
      B2RPK9, Q96F83, Q9BTP4
      Related
      ENSP00000450114.1, ENST00000547315.6
      Conserved Domains (1) summary
      pfam15045
      Location:193 → 272
      Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      104985788..105001274
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005267318.5 → XP_005267375.1  uncharacterized protein CLBA1 isoform X1

      Conserved Domains (1) summary
      pfam15045
      Location:193 → 272
      Clathrin_bdg; Clathrin-binding box of Aftiphilin, vesicle trafficking

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      99230266..99245748
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375346.1 → XP_054231321.1  uncharacterized protein CLBA1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96F83.2 GenPept UniProtKB/Swiss-Prot:Q96F83

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