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SURF6 surfeit 6 [ Homo sapiens (human) ]

Gene ID: 6838, updated on 13-Apr-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
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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)

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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_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)