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

Gene ID: 389333, updated on 27-Nov-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, Nov 2024]
Orthologs
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Genomic context

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See PROB1 in Genome Data Viewer
Location:
5q31.2
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (139390592..139395104, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (139916688..139921200, complement)
RS_2024_09 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)

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_2024_08

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

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Chemical Information
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Research Materials