XKR8 - XK related 8 Gene

Also Known as XRG8; hXkr8

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55113

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
Molecular Function GO Annotation Evidence References Source
enables phospholipid scramblase activity IDA
IDA: Inferred from direct assay
23845944 GOA
Biological Process GO Annotation Evidence References 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 References 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