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    SURF6 surfeit 6 [ Homo sapiens (human) ]

    Gene ID: 6838, updated on 9-Jun-2024

    Summary

    Official Symbol
    SURF6provided by HGNC
    Official Full Name
    surfeit 6provided by HGNC
    Primary source
    HGNC:HGNC:11478
    See related
    Ensembl:ENSG00000148296 MIM:185642; AllianceGenome:HGNC:11478
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RRP14
    Summary
    This gene encodes a conserved protein that is localized to the nucleolus. The encoded protein may function as a nucleolar-matrix protein with nucleic acid-binding properties. There is a pseudogene for this gene on chromosome Y. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
    Expression
    Ubiquitous expression in colon (RPKM 12.0), ovary (RPKM 11.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SURF6 in Genome Data Viewer
    Location:
    9q34.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (133328776..133336188, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (145542703..145550115, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (136195612..136203025, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ABO 3' regulatory region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136130804-136131336 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136133484-136134469 Neighboring gene ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase Neighboring gene ABO +5.8 intron 1 enhancer Neighboring gene ABO promoter region Neighboring gene ABO upstream enhancer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:136179717-136180405 Neighboring gene lipocalin 1 pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:136202031-136203002 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:136203003-136203973 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136208670-136209390 Neighboring gene ribosomal protein L21 pseudogene 81 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136212559-136213062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136213063-136213564 Neighboring gene mediator complex subunit 22 Neighboring gene Sharpr-MPRA regulatory region 11826 Neighboring gene small nucleolar RNA, C/D box 24 Neighboring gene ribosomal protein L7a

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
    EBI GWAS Catalog
    Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women.
    EBI GWAS Catalog
    Genome-wide association study on serum alkaline phosphatase levels in a Chinese population.
    EBI GWAS Catalog
    Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ30322

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables RNA binding HDA PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables molecular condensate scaffold activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in ribosomal large subunit biogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ribosomal small subunit biogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in chromosome IDA
    Inferred from Direct Assay
    more info
     
    located_in granular component ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001278942.2NP_001265871.1  surfeit locus protein 6 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses alternate splice sites at two coding exons, which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL772161, BC003001, BI820270, CB158198, CD104374
      UniProtKB/Swiss-Prot
      O75683
    2. NM_006753.6NP_006744.2  surfeit locus protein 6 isoform 1

      See identical proteins and their annotated locations for NP_006744.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL772161, BC003001, CB158198, CD104374
      Consensus CDS
      CCDS6962.1
      UniProtKB/Swiss-Prot
      O75683, Q5T8U1, Q9BRK9, Q9BTZ5, Q9UK24
      UniProtKB/TrEMBL
      B3KNS8
      Related
      ENSP00000361092.4, ENST00000372022.6
      Conserved Domains (1) summary
      pfam04935
      Location:197318
      SURF6; Surfeit locus protein 6

    RNA

    1. NR_103874.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site at an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL772161, BC003001, CB158198, CD104374, CN260811

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      133328776..133336188 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_009646201.1 Reference GRCh38.p14 PATCHES

      Range
      154870..162282 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      145542703..145550115 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)