ABCB10 - ATP binding cassette subfamily B member 10 Gene

Also Known as M-ABC2; MTABC2; EST20237

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23456

About ABCB10

Cytogenetic location: 1q42.13 Genomic coordinates (GRCh38): 1:229,516,582-229,558,707 (from NCBI)

This gene has 3 transcripts (splice variants), 219 orthologues and 10 paralogues. Ubiquitous expression in bone marrow (RPKM 17.0), duodenum (RPKM 6.7) and 24 other tissues.

Summary

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The function of this mitochondrial protein is unknown. [provided by RefSeq, Jul 2008]

ABCB10 Products (1)

mRNA Protein Name
NM_012089.3 NP_036221.2 ATP-binding cassette sub-family B member 10, mitochondrial
Molecular Function GO Annotation Evidence References Source
enables ATP hydrolysis activity IDA
IDA: Inferred from direct assay
33253225 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25063848 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
30765471 GOA
Biological Process GO Annotation Evidence References Source
involved in erythrocyte development IMP
IMP: Inferred from mutant phenotype
22085049 GOA
involved in mitochondrial unfolded protein response IMP
IMP: Inferred from mutant phenotype
28315685 GOA
involved in positive regulation of hemoglobin biosynthetic process IMP
IMP: Inferred from mutant phenotype
22085049 GOA
Cellular Component GO Annotation Evidence References Source
located in mitochondrial membrane IDA
IDA: Inferred from direct assay
10922475 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
22655043 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

ABCB10 Protein Structure

ABC_membrane

ABC_membrane: ABC transporter transmembrane region (174 - 439)

ABC_tran

ABC_tran: ABC transporter (511 - 662)

  • 0
  • 200
  • 400
  • 600
  • 738 a.a.
Protein Preferred Names Protein Names

ATP-binding cassette sub-family B member 10, mitochondrial

  • ABC transporter 10 protein

ABCB10 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ABCB10 Q9NRK6 FECH Homo sapiens P22830 30765471
Intra
ABCB10 Q9NRK6 FECH Homo sapiens P22830 30765471
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Developmental Coordination Disorder
  • Motor Skills Disorders

Non-Syndromic X-Linked Intellectual Disability Arx-Related
  • Arx-Related Intellectual Disability

  • Mrxarx

  • X-Linked Mental Retardation 29

  • X-Linked Mental Retardation 29 And Others

  • X-Linked Mental Retardation 32

  • X-Linked Mental Retardation 33

  • X-Linked Mental Retardation 38

  • X-Linked Mental Retardation 43

  • X-Linked Mental Retardation 76

  • X-Linked Mental Retardation 87

  • X-Linked Mental Retardation With Or Without Seizures Arx-Related

  • Mental Retardation, X-Linked, Type 29 And Others

Anisometropia
Anemia, Sideroblastic, 1
  • Xlsa

  • X-Linked Sideroblastic Anemia

  • Hypochromic Anemia

  • Anh1

  • Hereditary Iron-Loading Anemia

  • Anemia, Sideroblastic, X-Linked

  • Anemia, Hereditary Sideroblastic

  • Erythroid 5-Aminolevulinate Synthase Deficiency

  • Hereditary Sideroblastic Anemia

  • SIDBA1

  • Anemia, Hypochromic

  • Sideroblastic Anemia 1

  • Anemia Hypochromic

  • X Chromosome-Linked Sideroblastic Anemia

  • Sideroblastic Anaemia 1

  • X-Linked Sideroblastic Anaemia

  • Anemia Hereditary Sideroblastic

  • Anemia Sex-Linked Hypochromic Sideroblastic

  • Congenital Sideroblastic Anemia

  • Sideroblastic Anemia X-Linked

  • Anemia, Sex-Linked Hypochromic Sideroblastic

  • Congenital Sideroblastic Anaemia

  • X-Linked Pyridoxine-Responsive Sideroblastic Anemia

  • Anemia Congenital Sideroblastic

  • Anemia, Sideroblastic, Type 1

  • Sex-Linked Hypochromic Sideroblastic Anaemia

  • Autosomal Recessive Sideroblastic Anaemia

  • Familial Sex Linked Hypochromic Anaemia

Intellectual Developmental Disorder With Short Stature And Behavioral Abnormalities
  • IDDSSBA

Dysgraphia
  • Agraphia

Protoporphyria, Erythropoietic, 1
  • Erythropoietic Protoporphyria

  • Epp

  • Ferrochelatase Deficiency

  • Protoporphyria, Erythropoietic

  • Erythrohepatic Protoporphyria

  • Heme Synthetase Deficiency

  • Autosomal Erythropoietic Protoporphyria

  • EPP1

  • Protoporphyria

  • Protoporphyria Erythropoietic

Anemia, Sideroblastic, And Spinocerebellar Ataxia
  • X-Linked Sideroblastic Anemia With Ataxia

  • ASAT

  • X-Linked Sideroblastic Anemia And Ataxia

  • X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia

  • Anemia, Sideroblastic, With Ataxia

  • Anemia Sideroblastic And Spinocerebellar Ataxia

  • Pagon Bird Detter Syndrome

  • Pagon-Bird-Detter Syndrome

  • Xlsa-A

  • X-Linked Sideroblastic Anaemia And Ataxia

  • X-Linked Sideroblastic Anaemia With Ataxia

  • Sideroblastic Anemia With Spinocerebellar Ataxia

  • Xlsa/A

  • Anemia, Sideroblastic, Spinocerebellar Ataxia

  • Sideroblastic Anemia And Ataxia

  • Anemia Sideroblastic, And Spinocerebellar Ataxia

Stereotypic Movement Disorder
  • Stereotypy Habit Disorder

  • Stereotyped Repetitive Movements

  • Stereotyped Disorder

  • Stereotypes Nos

  • Stereotype Habit Disorder

Acute Porphyria
  • Porphyrias, Hepatic

  • Hepatic Porphyria

  • Porphyria Hepatic

  • Acute Intermittent Porphyria

Writing Disorder
Reading Disorder
  • Specific Reading Disorder

  • Reading

  • Dyslexia

  • Developmental Reading Disorder

Learning Disability
  • Learning Disabilities

  • Learning Disorders

  • Academic Skill Disorder

  • Learning Disorder

Specific Developmental Disorder
Attention Deficit-Hyperactivity Disorder
  • Attention Deficit Hyperactivity Disorder

  • ADHD

  • Attention Deficit Disorder

  • Attention Deficit-Hyperactivity Disorder, Susceptibility To

  • Attention Deficit Disorder With Hyperactivity

  • Hyperkinetic Disorder

  • Hyperactivity Of Childhood

  • Attention-Deficit/Hyperactivity Disorder

  • Add

  • Addh

  • Attention Deficit

  • Attention Deficit Disorder Of Childhood With Hyperactivity

  • Attention Deficit Disorder With Hyperactivity Syndrome

  • Hyperkinetic Syndrome

  • Attention-Deficit Hyperactivity Disorder

  • Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

  • Disturbance Of Activity And Attention

  • Disorder Of Activity And Attention

  • Adhd - [Attention Deficit Hyperactivity Disorder]

  • Hyperkinetic Disorders

  • Disorder Of Activity And Attention With Hyperkinesia

  • Attention Deficit Syndrome With Hyperactivity

Cerebral Palsy
  • Infantile Cerebral Palsy

  • Mixed Cerebral Palsy

  • Palsy Cerebral

  • Palsy, Cerebral

  • Cerebral Palsy, Mixed

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
Canis familiaris ABCB10 VGNC VGNC:37432
Rattus norvegicus ABCB10 RGD RGD:1311222
Mus musculus ABCB10 MGD MGI:1860508
Felis catus ABCB10 VGNC VGNC:103727
Macaca mulatta ABCB10 VGNC VGNC:99826
Bos taurus ABCB10 VGNC VGNC:25462
Others ABCB10 NCBI