1. Gene
  2. ABCF1 - ATP binding cassette subfamily F member 1 Gene

ABCF1 - ATP binding cassette subfamily F member 1 Gene

Homo sapiens

Also known as ABC27; ABC50

Gene ID: 23 | Gene type: protein coding

About ABCF1

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:30,571,442-30,591,522 (from NCBI)

This gene has 7 transcripts (splice variants), 1 gene allele, 196 orthologues and 2 paralogues. Ubiquitous expression in testis (RPKM 25.4), bone marrow (RPKM 18.2) and 25 other tissues.

Summary

The 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 GCN20 subfamily. Unlike other members of the superfamily, this protein lacks the transmembrane domains which are characteristic of most ABC transporters. This protein may be regulated by tumor necrosis factor-alpha and play a role in enhancement of protein synthesis and the inflammation process. [provided by RefSeq, Jul 2008]

ABCF1 Products(2)

mRNA Protein Name
NM_001025091.2 NP_001020262.1 ATP-binding cassette sub-family F member 1 isoform a
NM_001090.3 NP_001081.1 ATP-binding cassette sub-family F member 1 isoform b

ABCF1 Protein Structure

ABC_tran

ABC_tran: ABC transporter (321 - 480)

ABC_tran_Xtn

ABC_tran_Xtn: ABC transporter (519 - 593)

ABC_tran

ABC_tran: ABC transporter (642 - 771)

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

ATP-binding cassette sub-family F member 1

ATP-binding cassette 50 (TNF-alpha stimulated)

Related Diseases

Diseases Alias
Bile Acid Synthesis Defect, Congenital, 5

Congenital Bile Acid Synthesis Defect 5

CBAS5

Bile Acid Synthesis Defect, Congenital, Type 5

Neurofibromatosis-Noonan Syndrome

NFNS

Neurofibromatosis Type 1

Neurofibromatosis With Noonan Phenotype

Nf1

Von Recklinghausen Disease

Neurofibromatosis Type 1-Noonan Syndrome

Noonan Neurofibromatosis Syndrome

Recklinghausen'S Disease

Noonan-Neurofibromatosis Syndrome

Fibromatosis Multiple Non Ossifying

Disseminated Nonossifying Fibromas In Association With Cafe-Au-Lait Spots

Jaffe Campanacci Syndrome

Type 1 Neurofibromatosis

Neurofibromatosis 1

Peripheral Neurofibromatosis

Recklinghausen Disease, Nerve

Jaffe-Campanacci 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
Macaca mulatta ABCF1 VGNC VGNC:69582
Mus musculus ABCF1 MGD MGI:1351658
Canis familiaris ABCF1 VGNC VGNC:37450
Felis catus ABCF1 VGNC VGNC:68232
Rattus norvegicus ABCF1 RGD RGD:620286
Bos taurus ABCF1 VGNC VGNC:25480