TCDB is operated by the Saier Lab Bioinformatics Group
« See all members of the family


9.A.54.1.1
Probable lysosomal cobalamin exporter, NESI or C61F disease protein; defective in cobalamin F type disease (540aas; 9 TMSs in a 5 + 4 arrangement) (Ruivo et al., 2009; Rutsch et al., 2009; Gailus et al., 2010; Wilcken, 2012) (also called LMBR1 domain-containing protein; liver regeneration p53-related protein, Lipocalin-interacting membrane receptor, limb region 1 protein, etc.) Homologues are present in all eukaryotes and probably some bacteria (e.g., EcsB protein of Bacillus cereus (gi#47570159; 10 TMSs; distantly related to 3.A.1.128.2). RodA of E. coli (9.B.3.1.2) may also be distantly related.

Accession Number:Q9NUN5
Protein Name:Probable lysosomal cobalamin transporter
Length:540
Molecular Weight:61389.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:9
Location1 / Topology2 / Orientation3: Lysosome membrane1 / Multi-pass membrane protein2
Substrate lysosomal cobalamin

Cross database links:

Genevestigator: Q9NUN5
eggNOG: prNOG07443
RefSeq: NP_060838.3   
Entrez Gene ID: 55788   
Pfam: PF04791   
OMIM: 277380  phenotype
612625  gene
KEGG: hsa:55788   

Gene Ontology

GO:0016021 C:integral to membrane
GO:0005765 C:lysosomal membrane
GO:0031419 F:cobalamin binding
GO:0044419 P:interspecies interaction between organisms
GO:0006810 P:transport

References (8)

[1] “Novel nuclear export signal-interacting protein, NESI, critical for the assembly of hepatitis delta virus.”  Wang Y.-H.et.al.   15956556
[2] “Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.”  Zhang Q.-H.et.al.   11042152
[3] “Complete sequencing and characterization of 21,243 full-length human cDNAs.”  Ota T.et.al.   14702039
[4] “The DNA sequence and analysis of human chromosome 6.”  Mungall A.J.et.al.   14574404
[5] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[6] “Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.”  Daub H.et.al.   18691976
[7] “Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.”  Gauci S.et.al.   19413330
[8] “Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.”  Rutsch F.et.al.   19136951

External Searches:

  • Search: DB with
  • BLAST ExPASy (Swiss Institute of Bioinformatics (SIB) BLAST)
  • CDD Search (Conserved Domain Database)
  • Search COGs (Clusters of Orthologous Groups of proteins)
  • 2° Structure (Network Protein Sequence Analysis)

Analyze:

Predict TMSs (Predict number of transmembrane segments)
Window Size: Angle:  
Window Size: Angle:  
FASTA formatted sequence
1:	MATSGAASAE LVIGWCIFGL LLLAILAFCW IYVRKYQSRR ESEVVSTITA IFSLAIALIT 
61:	SALLPVDIFL VSYMKNQNGT FKDWANANVS RQIEDTVLYG YYTLYSVILF CVFFWIPFVY 
121:	FYYEEKDDDD TSKCTQIKTA LKYTLGFVVI CALLLLVGAF VPLNVPNNKN STEWEKVKSL 
181:	FEELGSSHGL AALSFSISSL TLIGMLAAIT YTAYGMSALP LNLIKGTRSA AYERLENTED 
241:	IEEVEQHIQT IKSKSKDGRP LPARDKRALK QFEERLRTLK KRERHLEFIE NSWWTKFCGA 
301:	LRPLKIVWGI FFILVALLFV ISLFLSNLDK ALHSAGIDSG FIIFGANLSN PLNMLLPLLQ 
361:	TVFPLDYILI TIIIMYFIFT SMAGIRNIGI WFFWIRLYKI RRGRTRPQAL LFLCMILLLI 
421:	VLHTSYMIYS LAPQYVMYGS QNYLIETNIT SDNHKGNSTL SVPKRCDADA PEDQCTVTRT 
481:	YLFLHKFWFF SAAYYFGNWA FLGVFLIGLI VSCCKGKKSV IEGVDEDSDI SDDEPSVYSA