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XKR9 XK related 9 [ Homo sapiens (human) ]

Gene ID: 389668, updated on 12-Aug-2018

Summary

Official Symbol
XKR9provided by HGNC
Official Full Name
XK related 9provided by HGNC
Primary source
HGNC:HGNC:20937
See related
Ensembl:ENSG00000221947 Vega:OTTHUMG00000164431
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
XRG9
Expression
Broad expression in testis (RPKM 1.6), small intestine (RPKM 1.1) and 14 other tissues See more
Orthologs

Genomic context

See XKR9 in Genome Data Viewer
Location:
8q13.3
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (70669354..71066635)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (71581600..71648177)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene LACTB2 antisense RNA 1 Neighboring gene translocation associated membrane protein 1 Neighboring gene RNA, 7SL, cytoplasmic 19, pseudogene Neighboring gene lactamase beta 2 Neighboring gene uncharacterized LOC105375894 Neighboring gene EYA transcriptional coactivator and phosphatase 1 Neighboring gene trafficking protein particle complex 2 pseudogene 2

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 Jun 15 11:32:44 2016

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
NHGRI GWA Catalog

General gene information

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
XK-related protein 9
Names
X Kell blood group precursor-related family, member 9
X-linked Kx blood group related 9
XK, Kell blood group complex subunit-related family, member 9

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_001011720.1NP_001011720.1  XK-related protein 9 isoform 2

    See identical proteins and their annotated locations for NP_001011720.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 3. Variants 1, 3 and 4 encode the same isoform (2).
    Source sequence(s)
    AY534247
    Consensus CDS
    CCDS34905.1
    UniProtKB/Swiss-Prot
    Q5GH70
    Related
    ENSP00000386141.3, OTTHUMP00000226694, ENST00000408926.7, OTTHUMT00000378752
    Conserved Domains (1) summary
    pfam09815
    Location:10346
    XK-related; XK-related protein
  2. NM_001287258.1NP_001274187.1  XK-related protein 9 isoform 1

    See identical proteins and their annotated locations for NP_001274187.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 3. It encodes isoform 1, which is shorter at the N-terminus, compared to isoform 2.
    Source sequence(s)
    AC022731, AY534247, BC111381
    UniProtKB/Swiss-Prot
    Q5GH70
    Conserved Domains (1) summary
    pfam09815
    Location:1214
    XK-related; XK-related protein
  3. NM_001287259.1NP_001274188.1  XK-related protein 9 isoform 2

    See identical proteins and their annotated locations for NP_001274188.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) encodes the longer isoform (2). Variants 1, 3 and 4 encode the same protein.
    Source sequence(s)
    AY534247, BC151845
    Consensus CDS
    CCDS34905.1
    UniProtKB/Swiss-Prot
    Q5GH70
    Related
    ENSP00000431088.1, OTTHUMP00000226695, ENST00000520030.5, OTTHUMT00000378753
    Conserved Domains (1) summary
    pfam09815
    Location:10346
    XK-related; XK-related protein
  4. NM_001287260.1NP_001274189.1  XK-related protein 9 isoform 2

    See identical proteins and their annotated locations for NP_001274189.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 3. Variants 1, 3 and 4 encode the same isoform (2).
    Source sequence(s)
    AY534247, BC137105
    Consensus CDS
    CCDS34905.1
    UniProtKB/Swiss-Prot
    Q5GH70
    Conserved Domains (1) summary
    pfam09815
    Location:10346
    XK-related; XK-related protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    70669354..71066635
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716447.4XP_006716510.1  XK-related protein 9 isoform X2

    See identical proteins and their annotated locations for XP_006716510.1

    Conserved Domains (1) summary
    pfam09815
    Location:1214
    XK-related; XK-related protein
  2. XM_011517524.3XP_011515826.1  XK-related protein 9 isoform X1

    See identical proteins and their annotated locations for XP_011515826.1

    UniProtKB/Swiss-Prot
    Q5GH70
    Conserved Domains (1) summary
    pfam09815
    Location:10346
    XK-related; XK-related protein
  3. XM_011517527.3XP_011515829.1  XK-related protein 9 isoform X4

    Conserved Domains (1) summary
    pfam09815
    Location:10145
    XK-related; XK-related protein
  4. XM_017013405.2XP_016868894.1  XK-related protein 9 isoform X5

  5. XM_011517526.3XP_011515828.1  XK-related protein 9 isoform X3

    Conserved Domains (1) summary
    pfam09815
    Location:10145
    XK-related; XK-related protein
  6. XM_011517525.2XP_011515827.1  XK-related protein 9 isoform X1

    See identical proteins and their annotated locations for XP_011515827.1

    UniProtKB/Swiss-Prot
    Q5GH70
    Conserved Domains (1) summary
    pfam09815
    Location:10346
    XK-related; XK-related protein
  7. XM_017013404.2XP_016868893.1  XK-related protein 9 isoform X1

    UniProtKB/Swiss-Prot
    Q5GH70
    Conserved Domains (1) summary
    pfam09815
    Location:10346
    XK-related; XK-related protein
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