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Aliases & Descriptions for ABCB6
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| ABC 2 | | ABC14 2 | | EST45597 1, 2 | | FLJ22414 2 | | MTABC3 1, 2, 3, 5 | | PRP 2, 3 | | UMAT 3 | | umat 1, 2 |
| | | Descriptions |
|---|
| ATP-binding cassette half-transporter 2 | | ATP-binding cassette, sub-family B (MDR/TAP), member 6 2 | | ATP-binding cassette, sub-family B, member 6 2 | | Mitochondrial ABC transporter 3 3 | | Mt-ABC transporter 3 3 | | P-glycoprotein-related protein 3 | | Ubiquitously-expressed mammalian ABC half transporter 3 |
|
| | Search outside databases for aliases for ABCB6 genePrevious GC identifers: GC02M218090 GC02M218795 GC02M220038 GC02M220277 GC02M219899 |
Summaries for ABCB6(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for ABCB6: 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 as well as antigen presentation. This half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is considered a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function. [provided by RefSeq] UniProtKB/Swiss-Prot: ABCB6_HUMAN, Q9NP58Function: Binds heme and porphyrins and functions in their ATP-dependent uptake into the mitochondria. Plays a crucial role in heme synthesisGene Wiki entry for ABCB6 |
Genomic Location for ABCB6
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the ABCB6 gene 
Entrez Gene cytogenetic band: 2q36 Ensembl cytogenetic band: 2q35 HGNC cytogenetic band: 2q36ABCB6 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02M219782:
(about GC identifiers)
Start:
|
219,782,738 bp from pter |
End:
|
219,791,917 bp from pter |
Size:
|
9,180 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000002.10 NT_005403.16
| Proteins for ABCB6
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: ABCB6_HUMAN, Q9NP58 (See
protein sequence)Recommended Name: ATP-binding cassette sub-family B member 6, mitochondrial Size: 842 amino acids; 93886 Da
Subunit: Homodimer
Subcellular location: Mitochondrion outer membrane; Multi-pass membrane protein
Developmental stage: Highly expressed in fetal liver
Miscellaneous: Depletion of Abcb6 by RNAi abrogates heme biosynthesis. Overexpression enhances porphyrin biosynthesis
Sequence caution: Sequence=AAH43423.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=BAD18782.1; Type=Erroneous termination; Positions=168; Note=Translated as Trp; Sequence=BAD92291.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA;
Secondary accessions: O75542 Q49A66 Q59GQ5 Q6ZME6 Q96ME8 Q9HAQ6 Q9HAQ7Alternative splicing: 2 isoforms: Q9NP58-1 Q9NP58-4 REFSEQ proteins: NP_005680.1
ENSEMBL proteins: ENSP00000265316 ENSP00000295750
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6
): About this table
Antibodies for ABCB6: Assays for ABCB6: | Protein
Domains/ Families for ABCB6(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q9NP58
ProtoNet protein and cluster: Q9NP58 UniProtKB/Swiss-Prot: ABCB6_HUMAN, Q9NP58Similarity: Belongs to the ABC transporter family. Heavy Metal importer (TC 3.A.1.210) subfamilySimilarity: Contains 1 ABC transmembrane type-1 domainSimilarity: Contains 1 ABC transporter domain | Gene Function for ABCB6
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005689
Applied Biosystems Silencer® siRNAs for ABCB6
Sigma-Aldrich siRNA and siRNA Panels for ABCB6  Sigma-Aldrich shRNA for ABCB6  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_005689                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_005689                                  untagged cDNA clone in CMV expression vector: NM_005689 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_005689
UniProtKB/Swiss-Prot: ABCB6_HUMAN, Q9NP58Function: Binds heme and porphyrins and functions in their ATP-dependent uptake into the mitochondria. Plays a crucial role in heme synthesisInduction: Up-regulated by cellular porphyrins (at protein level)Genatlas biochemistry entry for ABCB6:ATP binding cassette superfamily,subfamily B (MDR/TAP),member 64 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for ABCB6
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
Gene Network CentralTM Interacting Genes and Proteins Network for ABCB6 
2 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for ABCB6(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for ABCB6 3 Novoseek chemical compound relationships for ABCB6 gene
About this table
|
Transcripts for ABCB6(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005689
Sigma-Aldrich siRNA and siRNA Panels for ABCB6  Sigma-Aldrich shRNA for ABCB6  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_005689 REFSEQ mRNAs for ABCB6 gene: NM_005689.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_005689               OriGene GFP tagged cDNA clone in CMV expression vector: NM_005689                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_005689                                  untagged cDNA clone in CMV expression vector: NM_005689  Additional cDNA sequence: AF070598.1 AF076775.1 AF308472.1 AJ289233.2 AK026067.1 AK057026.1 AK172812.1 AK303230.1 BC000559.2 BC043423.1 CR609962.1 U66673.1 17 DOTS entries: DT.87046556 DT.100702442 DT.100836568 DT.121017494 DT.100776774 DT.101985085 DT.211669 DT.100650765 DT.95178118 DT.100644208 DT.100776777 DT.92438261 DT.100776776 DT.100776779 DT.121017511 DT.95178121 DT.91673332 24/190 AceView cDNA sequences (see all 190
):BM678300 AW205829 W79936 CA441997 AW450832 BM970614 BU628545 BU753914 BU739042 CB156337 AI201831 CF529046 BM676624 BE743584 AF076775 CA429310 BQ006982 BM720321 AF070598 BX348255 BM701547 BE262425 BG519710 BC043423
highest scoring ESTs for ABCB6:AF070598 AF308472 AJ289233 AK057026 AL530678 BC000559 BE260438 BE261802 BE314828 BE560171 Unigene Cluster for ABCB6: ATP-binding cassette, sub-family B (MDR/TAP), member 6 Hs.107911 [show with all ESTs]Unigene Representative Sequence: BC043423
GeneLoc Exon Structure
5/10 Alternative Splicing Database (ASD) splice patterns (SP) for ABCB6 (see all 10
)
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | · | 6d | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | - |   | |   | - |   | - |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |
| SP2: | |   | |   | |   | - |   | |   | |   | |   | - |   | |   | - |   | - |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | - |   | - |   | |   | - |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
| ExUns: | 15a | · | 15b | ^ | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | |
| SP1: | |   | |   | - |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | - |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | - |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for ABCB6
2 Ensembl transcripts including schematic representations: ENST00000265316
ENST00000295750
|
Expression for ABCB6
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| ABCB6 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for ABCB6
1 / 2 / 3 3 probe-sets matching ABCB6 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: GAACGGTGAC
SOURCE GeneReport for Unigene cluster: Hs.107911
Expression variation in blood from EXPOLDB for ABCB6 UniProtKB/Swiss-Prot: ABCB6_HUMAN, Q9NP58Tissue specificity: Widely expressed. Highest expression in heart and skeletal muscles |
Orthologs for ABCB6
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for ABCB6 gene from 5/13 species (see all 13
)
| Organism |
Gene |
Locus |
Description |
Human Similarity |
NCBI accessions |
dog (Canis familiaris) |
ABCB61 |
-- |
ATP-binding cassette, sub-family B (MDR/TAP), member more |
89.61(n) 89.13(a) |
478914 XM_536073.2 XP_536073.2 |
chimpanzee (Pan troglodytes) |
ABCB61 |
-- |
ATP-binding cassette, sub-family B (MDR/TAP), member more |
99.49(n) 99.64(a) |
459959 XM_001161097.1 XP_001161097.1 |
cow (Bos taurus) |
ABCB61 |
-- |
ATP-binding cassette, sub-family B (MDR/TAP), member more |
88.52(n) 89.39(a) |
783257 XM_001251071.1 XP_001251072.1 |
rat (Rattus norvegicus) |
Abcb61 |
-- |
ATP-binding cassette, sub-family B (MDR/TAP), member more |
86.75(n) 88.38(a) |
140669 NM_080582.1 NP_542149.1 |
mouse (Mus musculus) |
Abcb61, 5 |
15
|
ATP-binding cassette, sub-family B (MDR/TAP), member more1, 5 |
86.87(n)1 89.38(a)1 |
741041 NM_023732.21 NP_076221.11 AF0455625 AI8431025 (see all 24) |
About this table Species with no ortholog for ABCB6
ENSEMBL Gene Tree for ABCB6 | Paralogs for ABCB6(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for ABCB6 gene
- ABCB72
|
SNPs/Variants for ABCB6(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for ABCB6 (up to first 250kb)
|
Disorders & Mutations for ABCB6
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 605452
4 Novoseek disease relationships for ABCB6 gene
About this table
Genetic Association Database: ABCB6 Human Genome Epidemiology Navigator: ABCB6 (2 documents)
|
Medical News for ABCB6(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for ABCB6 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/42 PubMed articles for ABCB6 gene (see all 42
):- ABCB6 (MTABC3) excluded as the causative gene for the growth retardation syndrome with aminoaciduria, cholestasis, iron overload, and lactacidosis. (PubMed id 11977179)1, 3, 6 Visapaa I....Peltonen L. (2002)
- MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis. (PubMed id 10837493)1, 3, 4 Mitsuhashi N.... Seino S. (2000)
- Isolation of a genomic clone containing the promoter region of the human ATP binding cassette (ABC) transporter, ABCB6. (PubMed id 11955620)1, 3, 4 Emadi-Konjin H.-P....Furuya K.N. (2002)
- Heteronuclear multidimensional NMR and homology modelling studies of the C-terminal nucleotide-binding domain of the human mitochondrial ABC transporter ABCB6. (PubMed id 16791740)3, 4 Kurashima-Ito K.... Ito Y. (2006)
- Identification of a mammalian mitochondrial porphyrin transporter. (PubMed id 17006453)3, 4 Krishnamurthy P.C.... Schuetz J.D. (2006)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)3, 4 Ota T....Sugano S. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Large-scale concatenation cDNA sequencing. (PubMed id 9110174)2, 3 Yu W....Gibbs R.A. (1997)
- Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database. (PubMed id 8894702)2, 3 Allikmets R....Dean M. (1996)
- Human ABC transporter isoform B6 (ABCB6) localizes primarily in the Golgi apparatus. (PubMed id 18279659)1, 3 Tsuchida M....Sakaguchi M. (2008)
|
Search for ABCB6
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing ABCB6
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing ABCB6
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ABCB6(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for ABCB6(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for ABCB6:

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