1. Gene
  2. XKR8 - XK related 8 Gene

XKR8 - XK related 8 Gene

Homo sapiens

Also known as XRG8; hXkr8

Gene ID: 55113 | Gene type: protein coding

About XKR8

Cytogenetic location: 1p35.3 Genomic coordinates (GRCh38): 1:27,959,973-27,968,093 (from NCBI)

This gene has 9 transcripts (splice variants), 309 orthologues and 5 paralogues. Ubiquitous expression in placenta (RPKM 5.8), bone marrow (RPKM 5.1) and 25 other tissues.

Summary

Enables phospholipid scramblase activity. Involved in engulfment of apoptotic cell; phosphatidylserine exposure on apoptotic cell surface; and positive regulation of myoblast differentiation. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

XKR8 Products(1)

mRNA Protein Name
NM_018053.4 NP_060523.2 XK-related protein 8
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables phospholipid scramblase activity IDA
IDA: Inferred from direct assay
23845944 GOA
Biological Process GO Annotation Evidence Reference Source
involved in engulfment of apoptotic cell IDA
IDA: Inferred from direct assay
23845944 GOA
involved in phosphatidylserine exposure on apoptotic cell surface IDA
IDA: Inferred from direct assay
23845944 GOA
involved in positive regulation of myoblast differentiation IDA
IDA: Inferred from direct assay
28881496 GOA
Cellular Component GO Annotation Evidence Reference Source
located in plasma membrane IDA
IDA: Inferred from direct assay
23845944 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

XKR8 Protein Structure

XK-related

XK-related: XK-related protein (12 - 344)

  • 0
  • 100
  • 200
  • 300
  • 395 a.a.
Protein Preferred Names Protein Names

XK-related protein 8

X Kell blood group precursor-related family, member 8

Related Diseases

Diseases Alias
Scott Syndrome

SCTS

Bdplt7

Prothrombin Consumption Deficiency

Bleeding Abnormality Due To Deficiency Of Platelet Binding Of Factor X

Bleeding Disorder, Platelet-Type, 7

Prothrombin Conversion Defect, Familial

Prothrombin Consumption Inhibitor, Familial

Bleeding Abnormality Due To Deficiency Of Platelet Biding Of Factor X

Familial Prothrombin Consumption Inhibitor

Familial Prothrombin Conversion Defect

Platelet-Type Bleeding Disorder 7

Platelet Factor X Receptor Deficiency

Bleeding Disorder Platelet-Type 7

Prothrombin Consumption Inhibitor Familial

Prothrombin Conversion Defect Familial

Neuroacanthocytosis

Neuroacanthocytosis Syndrome

Mcleod Syndrome

Mcleod Neuroacanthocytosis Syndrome

MLS

X-Linked Mcleod Syndrome

Mcleod Phenotype

Neuroacanthocytosis, Mcleod Type

Mcleod Syndrome With Or Without Chronic Granulomatous Disease

MCLDS

Mcleod Type Neuroacanthocytosis

Mcleod Syndrome With Chronic Granulomatous Disease

Neuroacanthocytosis Mcleod Type

Blood Group Deletion Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus XKR8 VGNC VGNC:80404
Rattus norvegicus XKR8 RGD RGD:1305649
Mus musculus XKR8 MGD MGI:2685877
Macaca mulatta XKR8 VGNC VGNC:106531
Canis familiaris XKR8 VGNC VGNC:48453
Bos taurus XKR8 VGNC VGNC:36990