Details for: SPG7

Gene ID: 6687

Symbol: SPG7

Ensembl ID: ENSG00000197912

Description: SPG7 matrix AAA peptidase subunit, paraplegin

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: 352.5020
    Cell Significance Index: -54.8300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 200.2713
    Cell Significance Index: -50.8000
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 118.5456
    Cell Significance Index: -48.1600
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 106.5933
    Cell Significance Index: -54.8300
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 85.7498
    Cell Significance Index: -57.5400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 50.5686
    Cell Significance Index: -48.2800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 46.0600
    Cell Significance Index: -56.7900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 19.3553
    Cell Significance Index: -51.8500
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 15.6392
    Cell Significance Index: -48.0400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 14.5741
    Cell Significance Index: -57.5100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 13.5384
    Cell Significance Index: -29.6300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 3.0372
    Cell Significance Index: 84.8800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.1982
    Cell Significance Index: 436.2400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 2.0648
    Cell Significance Index: 59.4900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.0635
    Cell Significance Index: 413.9400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.7142
    Cell Significance Index: 77.7000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.3510
    Cell Significance Index: 29.2700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.1915
    Cell Significance Index: 214.7900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.1576
    Cell Significance Index: 415.2100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.0736
    Cell Significance Index: 132.0100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.0476
    Cell Significance Index: 80.3900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9942
    Cell Significance Index: 161.7000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.9527
    Cell Significance Index: 860.2200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.9214
    Cell Significance Index: 59.4500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.8345
    Cell Significance Index: 46.8300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.8077
    Cell Significance Index: 20.1900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.6184
    Cell Significance Index: 32.1300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.5387
    Cell Significance Index: 14.4400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.5124
    Cell Significance Index: 70.3700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.4802
    Cell Significance Index: 262.2300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.4115
    Cell Significance Index: 181.9300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.3691
    Cell Significance Index: 24.8200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.3126
    Cell Significance Index: 10.9900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2912
    Cell Significance Index: 201.4000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2772
    Cell Significance Index: 35.5400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.2692
    Cell Significance Index: 12.5500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.2636
    Cell Significance Index: 496.3100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2567
    Cell Significance Index: 25.3900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.2232
    Cell Significance Index: 13.7200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.2171
    Cell Significance Index: 25.6000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.2003
    Cell Significance Index: 3.9100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1914
    Cell Significance Index: 13.2400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.1760
    Cell Significance Index: 271.0200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1728
    Cell Significance Index: 318.7000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1655
    Cell Significance Index: 7.7800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1636
    Cell Significance Index: 31.1300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1280
    Cell Significance Index: 21.8600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1088
    Cell Significance Index: 69.1200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0902
    Cell Significance Index: 122.6800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0775
    Cell Significance Index: 4.8900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0614
    Cell Significance Index: 2.7200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0557
    Cell Significance Index: 25.3000
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.0314
    Cell Significance Index: 0.5800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0091
    Cell Significance Index: 1.1800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0042
    Cell Significance Index: 0.1600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0045
    Cell Significance Index: -0.1200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0236
    Cell Significance Index: -17.3300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0281
    Cell Significance Index: -20.8100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0404
    Cell Significance Index: -2.1200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0471
    Cell Significance Index: -29.4000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0569
    Cell Significance Index: -43.0800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0662
    Cell Significance Index: -37.3300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0871
    Cell Significance Index: -8.9000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0875
    Cell Significance Index: -1.5000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0881
    Cell Significance Index: -6.2300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1120
    Cell Significance Index: -8.3500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1462
    Cell Significance Index: -5.0800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.1488
    Cell Significance Index: -16.1800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1603
    Cell Significance Index: -33.7600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1775
    Cell Significance Index: -51.0600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1811
    Cell Significance Index: -26.3200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1829
    Cell Significance Index: -21.3200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1837
    Cell Significance Index: -5.0000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1923
    Cell Significance Index: -22.0400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2277
    Cell Significance Index: -3.8100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.2903
    Cell Significance Index: -3.4600
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.3788
    Cell Significance Index: -10.8100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.3822
    Cell Significance Index: -10.0500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3866
    Cell Significance Index: -40.2500
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.3996
    Cell Significance Index: -3.6800
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.4604
    Cell Significance Index: -5.7100
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.4704
    Cell Significance Index: -53.7000
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.4714
    Cell Significance Index: -6.9600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.5334
    Cell Significance Index: -11.3600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.6237
    Cell Significance Index: -49.4000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.6606
    Cell Significance Index: -34.4100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.6712
    Cell Significance Index: -14.0500
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.6751
    Cell Significance Index: -16.1900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.6984
    Cell Significance Index: -22.3700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.7263
    Cell Significance Index: -9.9100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.7691
    Cell Significance Index: -19.7700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.7956
    Cell Significance Index: -48.7800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.8271
    Cell Significance Index: -24.2900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.8457
    Cell Significance Index: -8.7600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.8983
    Cell Significance Index: -25.7500
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.9449
    Cell Significance Index: -21.8300
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.9676
    Cell Significance Index: -24.7200
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -1.0095
    Cell Significance Index: -24.6300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -1.0625
    Cell Significance Index: -33.8400
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -1.0994
    Cell Significance Index: -18.5200

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** 1. **Mitochondrial localization**: The SPG7 gene is primarily localized to the mitochondrial matrix, where it is involved in the regulation of mitochondrial protein processing and degradation. 2. **AAA peptidase complex**: SPG7 is a subunit of the AAA peptidase complex, a group of enzymes that utilize ATP hydrolysis to drive protein degradation and processing. 3. **Peptidase activity**: SPG7 exhibits peptidase activity, specifically metalloendopeptidase activity, which is essential for the degradation of mitochondrial proteins. 4. **Highly expressed in neurons**: The SPG7 gene is highly expressed in various neuronal cell types, including GABAergic neurons, suggesting its critical role in maintaining neuronal function and integrity. **Pathways and Functions** 1. **Mitochondrial protein degradation**: SPG7 is involved in the regulation of mitochondrial protein degradation, which is essential for maintaining mitochondrial quality and function. 2. **Protein processing**: SPG7 is also involved in the processing of mitochondrial proteins, including the degradation of unfolded or misfolded proteins. 3. **Anterograde axonal transport**: SPG7 has been implicated in the regulation of anterograde axonal transport, which is essential for maintaining axonal homeostasis and function. 4. **Regulation of mitochondrial membrane permeability**: SPG7 plays a role in regulating mitochondrial membrane permeability, which is critical for maintaining mitochondrial function and preventing mitochondrial dysfunction. **Clinical Significance** Mutations in the SPG7 gene have been linked to several neurodegenerative disorders, including: 1. **Spinal muscular atrophy type 2 (SMA2)**: A severe form of spinal muscular atrophy characterized by progressive muscle weakness and wasting. 2. **Autosomal recessive spinal muscular atrophy**: A rare form of spinal muscular atrophy caused by mutations in the SPG7 gene. 3. **Other neurodegenerative disorders**: SPG7 mutations have also been implicated in other neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). In conclusion, the SPG7 gene plays a critical role in maintaining mitochondrial function and integrity, and its dysregulation has been linked to several neurodegenerative disorders. Further research is necessary to fully understand the mechanisms underlying SPG7-mediated mitochondrial function and to develop effective therapeutic strategies for treating SPG7-related disorders.

Genular Protein ID: 2314463746

Symbol: SPG7_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9UQ90 O75756 Q2TB70 Q58F00 Q96IB0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CORUM 1 CTD 1 ChEBI 16 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 21 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 19 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 2 GenomeRNAi 1 GlyGen 1 HAMAP 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MEROPS 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 2 RefSeq 3 Rhea 2 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9635427

Title: Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.

PubMed ID: 9635427

DOI: 10.1016/s0092-8674(00)81203-9

PubMed ID: 10480368

Title: Genomic structure and expression analysis of the spastic paraplegia gene, SPG7.

PubMed ID: 10480368

DOI: 10.1007/s004399900087

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: 11549317

Title: Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein.

PubMed ID: 11549317

DOI: 10.1006/geno.2001.6560

PubMed ID: 14623864

Title: Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia.

PubMed ID: 14623864

DOI: 10.1083/jcb.200304112

PubMed ID: 20579626

Title: Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.

PubMed ID: 20579626

DOI: 10.1016/j.ajhg.2010.05.016

PubMed ID: 26387735

Title: SPG7 is an essential and conserved component of the mitochondrial permeability transition pore.

PubMed ID: 26387735

DOI: 10.1016/j.molcel.2015.08.009

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 27499296

Title: Mitochondrial protein interaction mapping identifies regulators of respiratory chain function.

PubMed ID: 27499296

DOI: 10.1016/j.molcel.2016.06.033

PubMed ID: 28396416

Title: Proteolytic control of the mitochondrial calcium uniporter complex.

PubMed ID: 28396416

DOI: 10.1073/pnas.1702938114

PubMed ID: 31097542

Title: SPG7 targets the m-AAA protease complex to process MCU for uniporter assembly, Ca2+ influx, and regulation of mitochondrial permeability transition pore opening.

PubMed ID: 31097542

DOI: 10.1074/jbc.ra118.006443

PubMed ID: 19841671

Title: Crystal structure of the ATPase domain of the human AAA+ protein paraplegin/SPG7.

PubMed ID: 19841671

DOI: 10.1371/journal.pone.0006975

PubMed ID: 16534102

Title: Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.

PubMed ID: 16534102

DOI: 10.1212/01.wnl.0000201185.91110.15

PubMed ID: 17646629

Title: A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.

PubMed ID: 17646629

DOI: 10.1212/01.wnl.0000266667.91074.fe

PubMed ID: 20186691

Title: Functional evaluation of paraplegin mutations by a yeast complementation assay.

PubMed ID: 20186691

DOI: 10.1002/humu.21226

PubMed ID: 27217339

Title: Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

PubMed ID: 27217339

DOI: 10.1093/brain/aww111

Sequence Information:

  • Length: 795
  • Mass: 88235
  • Checksum: 453D4BF8553A0632
  • Sequence:
    • MAVLLLLLRA LRRGPGPGPR PLWGPGPAWS PGFPARPGRG RPYMASRPPG DLAEAGGRAL 
QSLQLRLLTP TFEGINGLLL KQHLVQNPVR LWQLLGGTFY FNTSRLKQKN KEKDKSKGKA 
PEEDEEERRR RERDDQMYRE RLRTLLVIAV VMSLLNALST SGGSISWNDF VHEMLAKGEV 
QRVQVVPESD VVEVYLHPGA VVFGRPRLAL MYRMQVANID KFEEKLRAAE DELNIEAKDR 
IPVSYKRTGF FGNALYSVGM TAVGLAILWY VFRLAGMTGR EGGFSAFNQL KMARFTIVDG 
KMGKGVSFKD VAGMHEAKLE VREFVDYLKS PERFLQLGAK VPKGALLLGP PGCGKTLLAK 
AVATEAQVPF LAMAGPEFVE VIGGLGAARV RSLFKEARAR APCIVYIDEI DAVGKKRSTT 
MSGFSNTEEE QTLNQLLVEM DGMGTTDHVI VLASTNRADI LDGALMRPGR LDRHVFIDLP 
TLQERREIFE QHLKSLKLTQ SSTFYSQRLA ELTPGFSGAD IANICNEAAL HAAREGHTSV 
HTLNFEYAVE RVLAGTAKKS KILSKEEQKV VAFHESGHAL VGWMLEHTEA VMKVSITPRT 
NAALGFAQML PRDQHLFTKE QLFERMCMAL GGRASEALSF NEVTSGAQDD LRKVTRIAYS 
MVKQFGMAPG IGPISFPEAQ EGLMGIGRRP FSQGLQQMMD HEARLLVAKA YRHTEKVLQD 
NLDKLQALAN ALLEKEVINY EDIEALIGPP PHGPKKMIAP QRWIDAQREK QDLGEEETEE 
TQQPPLGGEE PTWPK

Genular Protein ID: 2295940774

Symbol: A0A2R8Y632_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A2R8Y632

Database IDs:

AlphaFoldDB 1 Bgee 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 6 Gene3D 2 GeneTree 1 HGNC 1 InterPro 5 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 2 Pfam 2 Proteomes 2 ProteomicsDB 1 RefSeq 1 SAM 3 SMART 2 SMR 1 SUPFAM 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 25944712

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

PubMed ID: 25944712

Sequence Information:

  • Length: 463
  • Mass: 51419
  • Checksum: DA34B0CCD2B8F933
  • Sequence:
    • MAVLLLLLRA LRRGPGPGPR PLWGPGPAWS PGFPARPGRG RPYMASRPPG DLAEAGGRAL 
QSLQLRLLTP TFEGINGLLL KQHLVQNPVR LWQLLGGTFY FNTSRLKQKN KEKDKSKGKA 
PEEDEEERRR RERDDQMYRE RLRTLLVIAV VMSLLNALST SGGSISWNDF VHEMLAKGEV 
QRVQVVPESD VVEVYLHPGA VVFGRPRLAL MYRMQVANID KFEEKLRAAE DELNIEAKDR 
IPVSYKRTGF FGNALYSVGM TAVGLAILWY VFRLAGMTGR EGGFSAFNQL KMARFTIVDG 
KMGKGVSFKD VAGMHEAKLE VREFVDYLKS PERFLQLGAK VPKGALLLGP PGCGKTLLAK 
AVATEAQVPF LAMAGPEFVE VIGGLGAARV RSLFKEARAR APCIVYIDEI DAVGKKRSTT 
MSGFSNTEEE QTLNQLLVEM DVFYAEIEEL KLVYPYHGVL HSD

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.