Details for: ABCD3

Gene ID: 5825

Symbol: ABCD3

Ensembl ID: ENSG00000117528

Description: ATP binding cassette subfamily D member 3

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 264.3283
    Cell Significance Index: -41.1200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 167.4004
    Cell Significance Index: -42.4600
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 92.1053
    Cell Significance Index: -43.4900
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 86.7431
    Cell Significance Index: -35.2400
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 79.5318
    Cell Significance Index: -40.9100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 36.9419
    Cell Significance Index: -35.2700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 35.0215
    Cell Significance Index: -43.1800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 14.7525
    Cell Significance Index: -39.5200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 11.1086
    Cell Significance Index: -43.8400
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 10.0929
    Cell Significance Index: -31.0000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 7.2650
    Cell Significance Index: -15.9000
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 3.6088
    Cell Significance Index: 60.7900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 3.5156
    Cell Significance Index: 697.6900
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 2.4835
    Cell Significance Index: 22.8700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.8018
    Cell Significance Index: 138.2700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.7561
    Cell Significance Index: 191.0100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.6297
    Cell Significance Index: 97.8400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.2082
    Cell Significance Index: 217.8000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.0172
    Cell Significance Index: 204.0400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.9514
    Cell Significance Index: 49.4300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.9116
    Cell Significance Index: 112.0900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.9058
    Cell Significance Index: 19.6300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.8395
    Cell Significance Index: 21.5800
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 0.7702
    Cell Significance Index: 4.7400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.7555
    Cell Significance Index: 42.4000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.6884
    Cell Significance Index: 246.9300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.5070
    Cell Significance Index: 224.1500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.5017
    Cell Significance Index: 273.9700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.4058
    Cell Significance Index: 28.7000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.4036
    Cell Significance Index: 25.4400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.3977
    Cell Significance Index: 29.6400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3707
    Cell Significance Index: 256.3900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.3399
    Cell Significance Index: 9.5000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3181
    Cell Significance Index: 14.8300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3157
    Cell Significance Index: 60.0800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3122
    Cell Significance Index: 14.1500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.2528
    Cell Significance Index: 43.1700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2489
    Cell Significance Index: 24.6200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.1065
    Cell Significance Index: 6.5500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0891
    Cell Significance Index: 12.2300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0712
    Cell Significance Index: 134.0600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0704
    Cell Significance Index: 108.4300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0679
    Cell Significance Index: 125.2800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0673
    Cell Significance Index: 42.7300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0552
    Cell Significance Index: 25.0600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0488
    Cell Significance Index: 6.2600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0358
    Cell Significance Index: 48.6200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0105
    Cell Significance Index: 0.3700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0092
    Cell Significance Index: 0.6200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0030
    Cell Significance Index: 0.0800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0011
    Cell Significance Index: -0.7900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0081
    Cell Significance Index: -6.0000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0115
    Cell Significance Index: -7.2000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0134
    Cell Significance Index: -10.1600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.0199
    Cell Significance Index: -3.2400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0347
    Cell Significance Index: -0.5900
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0545
    Cell Significance Index: -0.8100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0561
    Cell Significance Index: -31.6600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0629
    Cell Significance Index: -1.3400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0638
    Cell Significance Index: -1.7100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0989
    Cell Significance Index: -11.6600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1056
    Cell Significance Index: -22.2400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1209
    Cell Significance Index: -14.0900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1255
    Cell Significance Index: -36.1000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1346
    Cell Significance Index: -19.5700
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.1396
    Cell Significance Index: -2.0600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1582
    Cell Significance Index: -16.1600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.1620
    Cell Significance Index: -2.2100
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1709
    Cell Significance Index: -19.5100
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.1849
    Cell Significance Index: -3.1100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1961
    Cell Significance Index: -22.4700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1999
    Cell Significance Index: -25.8200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2243
    Cell Significance Index: -9.9200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2279
    Cell Significance Index: -7.3000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2362
    Cell Significance Index: -6.4300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.2459
    Cell Significance Index: -7.0900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.2739
    Cell Significance Index: -5.3500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2744
    Cell Significance Index: -4.5900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2806
    Cell Significance Index: -13.1900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2871
    Cell Significance Index: -10.8700
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.3046
    Cell Significance Index: -6.5100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3556
    Cell Significance Index: -37.0300
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.3674
    Cell Significance Index: -4.3800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3815
    Cell Significance Index: -20.0300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4066
    Cell Significance Index: -32.2000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.4151
    Cell Significance Index: -26.7800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.4245
    Cell Significance Index: -22.1100
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.5562
    Cell Significance Index: -13.3400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.5975
    Cell Significance Index: -17.0500
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.6015
    Cell Significance Index: -7.4600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.6153
    Cell Significance Index: -15.3800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.6540
    Cell Significance Index: -22.7300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6911
    Cell Significance Index: -42.3700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.7421
    Cell Significance Index: -15.7500
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.7989
    Cell Significance Index: -11.4900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.8005
    Cell Significance Index: -26.2100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.8408
    Cell Significance Index: -26.7800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.8732
    Cell Significance Index: -19.1200
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: -0.9021
    Cell Significance Index: -9.1000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.9030
    Cell Significance Index: -31.6400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** ABCD3 is a member of the ABCD subfamily, which is characterized by its ability to transport a wide range of molecules, including lipids, bile acids, and other small molecules. The ABCD3 protein exhibits the typical features of ABC transporters, including: 1. **ATP-binding domain**: The ABCD3 protein contains an ATP-binding domain, which is essential for the transport of lipids across cellular membranes. 2. **Transmembrane domain**: The ABCD3 protein has a transmembrane domain, which allows it to span the plasma membrane and interact with lipids. 3. **Recognition motifs**: The ABCD3 protein contains recognition motifs that enable it to bind to specific lipids and transport them across the plasma membrane. **Pathways and Functions** ABCD3 is involved in several key pathways, including: 1. **Lipid homeostasis**: ABCD3 plays a critical role in maintaining lipid homeostasis by transporting lipids across cellular membranes and regulating their levels. 2. **Bile acid transport**: ABCD3 is involved in the transport of bile acids across the plasma membrane, which is essential for the proper functioning of the liver and gallbladder. 3. **Peroxisomal function**: ABCD3 is a peroxisomal membrane protein that regulates the import of long-chain fatty acids into peroxisomes, where they are broken down for energy production. 4. **Fatty acid biosynthesis**: ABCD3 is involved in the regulation of fatty acid biosynthesis by regulating the transport of fatty acids across the plasma membrane. **Clinical Significance** Dysregulation of ABCD3 has been implicated in several diseases, including: 1. **Lipid metabolism disorders**: Mutations in the ABCD3 gene have been associated with lipid metabolism disorders, such as hypercholesterolemia and hypertriglyceridemia. 2. **Bile acid transport disorders**: ABCD3 dysfunction has been implicated in bile acid transport disorders, such as primary biliary cholangitis and primary sclerosing cholangitis. 3. **Peroxisomal disorders**: Mutations in the ABCD3 gene have been associated with peroxisomal disorders, such as Reye's syndrome and peroxisomal biogenesis disorders. In conclusion, ABCD3 is a critical gene that plays a pivotal role in maintaining lipid homeostasis, transporting lipids across cellular membranes, and regulating bile acid and peroxisomal function. Dysregulation of ABCD3 has been implicated in several diseases, highlighting the importance of this gene in maintaining overall cellular and organismal health.

Genular Protein ID: 3807372082

Symbol: ABCD3_HUMAN

Name: ATP-binding cassette sub-family D member 3

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 1301993

Title: Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome.

PubMed ID: 1301993

DOI: 10.1038/ng0492-16

PubMed ID: 1536884

Title: Nucleotide sequence of the human 70 kDa peroxisomal membrane protein: a member of ATP-binding cassette transporters.

PubMed ID: 1536884

DOI: 10.1016/0167-4781(92)90510-7

PubMed ID: 9521874

Title: Genomic organization of the 70-kDa peroxisomal membrane protein gene (PXMP1).

PubMed ID: 9521874

DOI: 10.1006/geno.1997.5177

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9539740

Title: Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.

PubMed ID: 9539740

DOI: 10.1073/pnas.95.8.4350

PubMed ID: 10551832

Title: Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.

PubMed ID: 10551832

DOI: 10.1074/jbc.274.46.32738

PubMed ID: 17609205

Title: Live cell FRET microscopy: homo- and heterodimerization of two human peroxisomal ABC transporters, the adrenoleukodystrophy protein (ALDP, ABCD1) and PMP70 (ABCD3).

PubMed ID: 17609205

DOI: 10.1074/jbc.m702122200

PubMed ID: 10777694

Title: Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p.

PubMed ID: 10777694

DOI: 10.1006/bbrc.2000.2572

PubMed ID: 10704444

Title: PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis.

PubMed ID: 10704444

DOI: 10.1083/jcb.148.5.931

PubMed ID: 11248239

Title: Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters.

PubMed ID: 11248239

DOI: 10.1016/s0014-5793(01)02235-9

PubMed ID: 16344115

Title: Role of Pex19p in the targeting of PMP70 to peroxisome.

PubMed ID: 16344115

DOI: 10.1016/j.bbamcr.2005.10.006

PubMed ID: 17761678

Title: Hydrophobic regions adjacent to transmembrane domains 1 and 5 are important for the targeting of the 70-kDa peroxisomal membrane protein.

PubMed ID: 17761678

DOI: 10.1074/jbc.m703369200

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 24333844

Title: A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acids.

PubMed ID: 24333844

DOI: 10.1016/j.bbalip.2013.12.001

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25168382

Title: A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3.

PubMed ID: 25168382

DOI: 10.1093/hmg/ddu448

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 27597759

Title: PEX2 is the E3 ubiquitin ligase required for pexophagy during starvation.

PubMed ID: 27597759

DOI: 10.1083/jcb.201511034

PubMed ID: 29397936

Title: Characterization of human ATP-binding cassette protein subfamily D reconstituted into proteoliposomes.

PubMed ID: 29397936

DOI: 10.1016/j.bbrc.2018.01.153

Sequence Information:

  • Length: 659
  • Mass: 75476
  • Checksum: 2CA976FEB6EB6217
  • Sequence:
  • MAAFSKYLTA RNSSLAGAAF LLLCLLHKRR RALGLHGKKS GKPPLQNNEK EGKKERAVVD 
    KVFFSRLIQI LKIMVPRTFC KETGYLVLIA VMLVSRTYCD VWMIQNGTLI ESGIIGRSRK 
    DFKRYLLNFI AAMPLISLVN NFLKYGLNEL KLCFRVRLTK YLYEEYLQAF TYYKMGNLDN 
    RIANPDQLLT QDVEKFCNSV VDLYSNLSKP FLDIVLYIFK LTSAIGAQGP ASMMAYLVVS 
    GLFLTRLRRP IGKMTITEQK YEGEYRYVNS RLITNSEEIA FYNGNKREKQ TVHSVFRKLV 
    EHLHNFILFR FSMGFIDSII AKYLATVVGY LVVSRPFLDL SHPRHLKSTH SELLEDYYQS 
    GRMLLRMSQA LGRIVLAGRE MTRLAGFTAR ITELMQVLKD LNHGKYERTM VSQQEKGIEG 
    VQVIPLIPGA GEIIIADNII KFDHVPLATP NGDVLIRDLN FEVRSGANVL ICGPNGCGKS 
    SLFRVLGELW PLFGGRLTKP ERGKLFYVPQ RPYMTLGTLR DQVIYPDGRE DQKRKGISDL 
    VLKEYLDNVQ LGHILEREGG WDSVQDWMDV LSGGEKQRMA MARLFYHKPQ FAILDECTSA 
    VSVDVEGYIY SHCRKVGITL FTVSHRKSLW KHHEYYLHMD GRGNYEFKQI TEDTVEFGS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.