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XKR6 XK related 6 [ Homo sapiens (human) ]

Gene ID: 286046, updated on 1-Jun-2020

Summary

Official Symbol
XKR6provided by HGNC
Official Full Name
XK related 6provided by HGNC
Primary source
HGNC:HGNC:27806
See related
Ensembl:ENSG00000171044
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
XRG6; C8orf5; C8orf7; C8orf21
Expression
Broad expression in thyroid (RPKM 1.5), lymph node (RPKM 1.4) and 23 other tissues See more
Orthologs

Genomic context

See XKR6 in Genome Data Viewer
Location:
8p23.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (10893764..11201833, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (10753654..11058875, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929229 Neighboring gene uncharacterized LOC101929248 Neighboring gene uncharacterized LOC112268022 Neighboring gene uncharacterized LOC101929269 Neighboring gene microRNA 598 Neighboring gene ribosomal protein L17 pseudogene 29 Neighboring gene Sharpr-MPRA regulatory region 9232 Neighboring gene ribosomal protein L19 pseudogene 13

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

NHGRI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Common variants at 30 loci contribute to polygenic dyslipidemia.
NHGRI GWA Catalog
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
NHGRI GWA Catalog
Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.
NHGRI GWA Catalog
Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ31557

Gene Ontology Provided by GOA

Process Evidence Code Pubs
apoptotic process involved in development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
engulfment of apoptotic cell IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylserine exposure on apoptotic cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
XK-related protein 6
Names
Transmembrane protein C8orf5
X Kell blood group precursor-related family, member 6
X-linked Kx blood group related 6
XK, Kell blood group complex subunit-related family, member 6

NCBI Reference Sequences (RefSeq)

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_173683.4NP_775954.2  XK-related protein 6

    See identical proteins and their annotated locations for NP_775954.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) is the protein-coding variant.
    Source sequence(s)
    AC011008, AF131215, AY534244, BC024146
    Consensus CDS
    CCDS5978.2
    UniProtKB/Swiss-Prot
    Q5GH73
    Related
    ENSP00000416707.2, ENST00000416569.3
    Conserved Domains (1) summary
    pfam09815
    Location:131501
    XK-related; XK-related protein

RNA

  1. NR_138152.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AF131215
  2. NR_138153.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AF131215
  3. NR_138154.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AF131215, CX755744

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    10893764..11201833 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447129.1XP_024302897.1  XK-related protein 6 isoform X1

    Conserved Domains (2) summary
    pfam09815
    Location:131534
    XK-related; XK-related protein
    cl27167
    Location:82138
    HemX; putative uroporphyrinogen-III C-methyltransferase
  2. XM_011543821.2XP_011542123.1  XK-related protein 6 isoform X2

    See identical proteins and their annotated locations for XP_011542123.1

    UniProtKB/TrEMBL
    Q96KT3
    Related
    ENSP00000297303.4, ENST00000297303.4
    Conserved Domains (2) summary
    pfam09815
    Location:131254
    XK-related; XK-related protein
    cl27167
    Location:82138
    HemX; HemX, putative uroporphyrinogen-III C-methyltransferase

RNA

  1. XR_948899.3 RNA Sequence

  2. XR_001745511.2 RNA Sequence

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p13 PATCHES

    Range
    2145097..2451195
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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