Details for: ABCD4

Gene ID: 5826

Symbol: ABCD4

Ensembl ID: ENSG00000119688

Description: ATP binding cassette subfamily D member 4

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: 200.6812
    Cell Significance Index: -31.2200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 108.0651
    Cell Significance Index: -27.4100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 25.7227
    Cell Significance Index: -31.7200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 10.6948
    Cell Significance Index: -28.6500
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 8.2428
    Cell Significance Index: -18.0400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 8.1297
    Cell Significance Index: -32.0800
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 7.4460
    Cell Significance Index: -22.8700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.2338
    Cell Significance Index: 244.8500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.9922
    Cell Significance Index: 107.9200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9368
    Cell Significance Index: 152.3600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.8752
    Cell Significance Index: 175.5600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.7999
    Cell Significance Index: 42.0000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.7067
    Cell Significance Index: 15.3100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.6673
    Cell Significance Index: 23.1900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.6295
    Cell Significance Index: 40.6200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.5912
    Cell Significance Index: 81.1900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.5683
    Cell Significance Index: 16.3800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.5357
    Cell Significance Index: 14.3600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5207
    Cell Significance Index: 186.7500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.5161
    Cell Significance Index: 35.6900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.4917
    Cell Significance Index: 13.7400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.4727
    Cell Significance Index: 258.1800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.4430
    Cell Significance Index: 20.0800
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.4046
    Cell Significance Index: 7.1500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3359
    Cell Significance Index: 60.5500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3196
    Cell Significance Index: 31.6200
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.3142
    Cell Significance Index: 3.5700
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.3081
    Cell Significance Index: 2.4600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.3013
    Cell Significance Index: 16.9100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2569
    Cell Significance Index: 32.9300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.2374
    Cell Significance Index: 15.9600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.2288
    Cell Significance Index: 6.0200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2209
    Cell Significance Index: 152.7800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1673
    Cell Significance Index: 8.6900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1585
    Cell Significance Index: 12.1600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1530
    Cell Significance Index: 67.6500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1389
    Cell Significance Index: 17.0800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1238
    Cell Significance Index: 7.8000
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.0907
    Cell Significance Index: 0.7400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0904
    Cell Significance Index: 81.5900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0653
    Cell Significance Index: 2.3000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0633
    Cell Significance Index: 7.4700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0621
    Cell Significance Index: 1.3000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0553
    Cell Significance Index: 10.5200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0387
    Cell Significance Index: 72.8300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0384
    Cell Significance Index: 52.2400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0285
    Cell Significance Index: 43.9000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0228
    Cell Significance Index: 42.0800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0227
    Cell Significance Index: 14.3900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0212
    Cell Significance Index: 0.9900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0047
    Cell Significance Index: 0.0800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0121
    Cell Significance Index: -0.5700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0169
    Cell Significance Index: -0.3600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0188
    Cell Significance Index: -13.7700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0237
    Cell Significance Index: -10.7600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0265
    Cell Significance Index: -1.1700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0279
    Cell Significance Index: -21.1100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0293
    Cell Significance Index: -2.1800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0299
    Cell Significance Index: -0.5000
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0302
    Cell Significance Index: -0.3100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0366
    Cell Significance Index: -27.0800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0408
    Cell Significance Index: -1.0200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0443
    Cell Significance Index: -3.1400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0500
    Cell Significance Index: -28.1800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0514
    Cell Significance Index: -5.2500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0541
    Cell Significance Index: -2.0500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0550
    Cell Significance Index: -9.4000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0577
    Cell Significance Index: -36.0200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0603
    Cell Significance Index: -7.7900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0704
    Cell Significance Index: -1.8800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0949
    Cell Significance Index: -27.3000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1110
    Cell Significance Index: -16.1400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1125
    Cell Significance Index: -13.1100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1674
    Cell Significance Index: -35.2500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1684
    Cell Significance Index: -19.2900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2101
    Cell Significance Index: -5.7200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.2206
    Cell Significance Index: -2.6300
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.2266
    Cell Significance Index: -3.3900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2783
    Cell Significance Index: -28.9800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3353
    Cell Significance Index: -8.5700
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.3410
    Cell Significance Index: -4.2300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3649
    Cell Significance Index: -28.9000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3712
    Cell Significance Index: -11.8900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.4144
    Cell Significance Index: -11.0900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.4350
    Cell Significance Index: -8.4900
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.4389
    Cell Significance Index: -6.4800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.4552
    Cell Significance Index: -13.3700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.4661
    Cell Significance Index: -11.9800
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.4722
    Cell Significance Index: -10.9100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.4987
    Cell Significance Index: -25.9800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.5035
    Cell Significance Index: -30.9500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.5044
    Cell Significance Index: -14.4600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.5107
    Cell Significance Index: -25.8100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.5148
    Cell Significance Index: -31.5600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.5402
    Cell Significance Index: -7.3700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.5614
    Cell Significance Index: -17.8800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.5709
    Cell Significance Index: -12.5000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.5733
    Cell Significance Index: -18.7700
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.6099
    Cell Significance Index: -6.6300
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.6258
    Cell Significance Index: -9.0000

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** The ABCD4 gene encodes a transmembrane protein that belongs to the ABC transporter family, which is characterized by its ability to transport a wide range of substrates across cell membranes. The ABCD4 protein is specifically involved in the transport of cobalamin, a vitamin essential for various cellular processes, including DNA synthesis and fatty acid metabolism. The protein's structure consists of two transmembrane domains, which are connected by a cytoplasmic domain. The ABCD4 protein has been shown to be highly specific for cobalamin, with a high affinity for the vitamin and a low affinity for other substrates. **Pathways and Functions** The ABCD4 protein is involved in several cellular pathways, including: 1. **Cobalamin metabolism**: The ABCD4 protein is responsible for transporting cobalamin into enterocytes, where it can be absorbed into the bloodstream and utilized by the body. 2. **Fatty acid metabolism**: The ABCD4 protein is also involved in the transport of long-chain fatty acids into peroxisomes, where they can be broken down for energy production. 3. **Vitamin and cofactor metabolism**: The ABCD4 protein is involved in the transport of other vitamins and cofactors, including vitamin B12-dependent enzymes and proteins. **Clinical Significance** Mutations in the ABCD4 gene have been associated with several clinical disorders, including: 1. **Meckel's syndrome**: A rare genetic disorder characterized by congenital abnormalities and developmental delays. 2. **Cobalamin deficiency**: A condition characterized by a lack of cobalamin in the body, which can lead to a range of symptoms, including anemia, fatigue, and neurological problems. 3. **Fatty acid oxidation disorders**: A group of disorders characterized by impaired fatty acid oxidation, which can lead to a range of symptoms, including seizures, muscle weakness, and developmental delays. In conclusion, the ABCD4 gene plays a crucial role in the transport of cobalamin across cell membranes, and mutations in this gene have been associated with several clinical disorders. Further research is needed to fully understand the mechanisms by which the ABCD4 protein functions and the clinical significance of mutations in this gene.

Genular Protein ID: 2348573911

Symbol: ABCD4_HUMAN

Name: PMP70-related protein

UniProtKB Accession Codes:

O14678 A8K5L7 Q6IAQ0 Q96E75

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 7 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 11 EMDB 1 Ensembl 1 ExpressionAtlas 1 GO 20 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 3 RefSeq 1 Rhea 2 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9266848

Title: Primary structure of human PMP69, a putative peroxisomal ABC-transporter.

PubMed ID: 9266848

DOI: 10.1006/bbrc.1997.7102

PubMed ID: 9599016

Title: Genomic organization and chromosomal localization of the human peroxisomal membrane protein-1-like protein (PXMP1-L) gene encoding a peroxisomal ABC transporter.

PubMed ID: 9599016

DOI: 10.1016/s0014-5793(98)00354-8

PubMed ID: 9302272

Title: Identification of a fourth half ABC transporter in the human peroxisomal membrane.

PubMed ID: 9302272

DOI: 10.1093/hmg/6.11.1925

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 25535791

Title: Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4.

PubMed ID: 25535791

DOI: 10.3109/09687688.2014.990998

PubMed ID: 27456980

Title: Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1.

PubMed ID: 27456980

DOI: 10.1038/srep30183

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: 22922874

Title: Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.

PubMed ID: 22922874

DOI: 10.1038/ng.2386

PubMed ID: 28572511

Title: Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.

PubMed ID: 28572511

DOI: 10.1074/jbc.m117.784819

PubMed ID: 33845046

Title: The lysosomal protein ABCD4 can transport vitamin B12 across liposomal membranes in vitro.

PubMed ID: 33845046

DOI: 10.1016/j.jbc.2021.100654

PubMed ID: 12111378

Title: Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8.

PubMed ID: 12111378

DOI: 10.1007/s100380200041

PubMed ID: 23141461

Title: Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing.

PubMed ID: 23141461

DOI: 10.1016/j.ymgme.2012.10.005

PubMed ID: 31467407

Title: Cryo-EM structure of human lysosomal cobalamin exporter ABCD4.

PubMed ID: 31467407

DOI: 10.1038/s41422-019-0222-z

Sequence Information:

  • Length: 606
  • Mass: 68597
  • Checksum: 2D88DEFED0EA0777
  • Sequence:
    • MAVAGPAPGA GARPRLDLQF LQRFLQILKV LFPSWSSQNA LMFLTLLCLT LLEQFVIYQV 
GLIPSQYYGV LGNKDLEGFK TLTFLAVMLI VLNSTLKSFD QFTCNLLYVS WRKDLTEHLH 
RLYFRGRAYY TLNVLRDDID NPDQRISQDV ERFCRQLSSM ASKLIISPFT LVYYTYQCFQ 
STGWLGPVSI FGYFILGTVV NKTLMGPIVM KLVHQEKLEG DFRFKHMQIR VNAEPAAFYR 
AGHVEHMRTD RRLQRLLQTQ RELMSKELWL YIGINTFDYL GSILSYVVIA IPIFSGVYGD 
LSPAELSTLV SKNAFVCIYL ISCFTQLIDL STTLSDVAGY THRIGQLRET LLDMSLKSQD 
CEILGESEWG LDTPPGWPAA EPADTAFLLE RVSISAPSSD KPLIKDLSLK ISEGQSLLIT 
GNTGTGKTSL LRVLGGLWTS TRGSVQMLTD FGPHGVLFLP QKPFFTDGTL REQVIYPLKE 
VYPDSGSADD ERILRFLELA GLSNLVARTE GLDQQVDWNW YDVLSPGEMQ RLSFARLFYL 
QPKYAVLDEA TSALTEEVES ELYRIGQQLG MTFISVGHRQ SLEKFHSLVL KLCGGGRWEL 
MRIKVE

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.