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    PROB1 proline rich basic protein 1 [ Homo sapiens (human) ]

    Gene ID: 389333, updated on 5-Mar-2024

    Summary

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    Official Symbol
    PROB1provided by HGNC
    Official Full Name
    proline rich basic protein 1provided by HGNC
    Primary source
    HGNC:HGNC:41906
    See related
    Ensembl:ENSG00000228672 AllianceGenome:HGNC:41906
    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
    C5orf65
    Summary
    Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Orthologs
    mouse all
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    Genomic context

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    Location:
    5q31.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (139390592..139395104, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (139916688..139921200, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (138726281..138730793, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene poly(A) binding protein interacting protein 2 Neighboring gene solute carrier family 23 member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:138716531-138717471 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23219 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16408 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23220 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23221 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:138723739-138724286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:138724287-138724834 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:138724835-138725382 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23225 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16409 Neighboring gene Sharpr-MPRA regulatory region 996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16410 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23227 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23228 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16411 Neighboring gene marginal zone B and B1 cell specific protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23229 Neighboring gene spermatogenesis associated 24 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23230 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:138739142-138739715 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:138739716-138740288 Neighboring gene DnaJ heat shock protein family (Hsp40) member C18 Neighboring gene uncharacterized LOC124901082 Neighboring gene NANOG hESC enhancer GRCh37_chr5:138755520-138756025 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:138773284-138773784 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16413 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:138775085-138775584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23232 Neighboring gene RNA, U5B small nuclear 4, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing. Karolak JA, et al. Eur J Hum Genet, 2017 Jan. PMID 27703147, Free PMC Article
    2. Integrated genomic analysis implicates haploinsufficiency of multiple chromosome 5q31.2 genes in de novo myelodysplastic syndromes pathogenesis. Graubert TA, et al. PLoS One, 2009. PMID 19240791, Free PMC Article
    3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Segregation analysis revealed that variants c.475T>G in SKP1, c.671G>A in PROB1, and c.527G>A in IL17B in the 5q31.1-q35.3 linkage region, and c.850G>A in HKDC1 in the 10q22 locus completely segregated with the phenotype in the studied Keratoconus family
      Title: Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Integrated genomic analysis implicates haploinsufficiency of multiple chromosome 5q31.2 genes in de novo myelodysplastic syndromes pathogenesis.
    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)

    Genotypes

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    proline-rich basic protein 1
    Names
    weakly similar to basic proline-rich protein

    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_001161546.2 → NP_001155018.1  proline-rich basic protein 1

      See identical proteins and their annotated locations for NP_001155018.1

      Status: VALIDATED

      Source sequence(s)
      AC135457, AK316483, AW576390
      Consensus CDS
      CCDS54909.1
      UniProtKB/Swiss-Prot
      B4E007, E7EW31
      Related
      ENSP00000416033.2, ENST00000434752.4
      Conserved Domains (1) summary
      pfam15232
      Location:874 → 941
      DUF4585; Domain of unknown function (DUF4585)

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      139390592..139395104 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      139916688..139921200 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    E7EW31.2 GenPept UniProtKB/Swiss-Prot:E7EW31

    Gene LinkOut

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

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