Details for: MTMR7

Gene ID: 9108

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: MTMR7

Ensembl ID: ENSG00000003987

Description: myotubularin related protein 7

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 32.3
    rCSI 54.21%
    PRS 67.43
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 28.46
    rCSI 35.41%
    PRS 65.4
  • sncg GABAergic cortical interneuron CL4023015
    CSI 27.95
    rCSI 44.95%
    PRS 68.87
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 27.95
    rCSI 49.35%
    PRS 67.04
  • sst GABAergic cortical interneuron CL4023017
    CSI 19.52
    rCSI 25.16%
    PRS 68.65
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 18.95
    rCSI 46.07%
    PRS 65.31
  • chandelier pvalb GABAergic cortical interneuron CL4023036
    CSI 17.73
    rCSI 55.44%
    PRS 71.29
  • VIP GABAergic cortical interneuron CL4023016
    CSI 17.71
    rCSI 21.16%
    PRS 67.55
  • retinal ganglion cell CL0000740
    CSI 16.39
    rCSI 36.21%
    PRS 70.88
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 15.71
    rCSI 56.53%
    PRS 65.35
  • L6b glutamatergic cortical neuron CL4023038
    CSI 14.36
    rCSI 44.87%
    PRS 68.97
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 14.15
    rCSI 53.48%
    PRS 67.89
  • mesothelial cell CL0000077
    CSI 13.24
    rCSI 51.77%
    PRS 63.96
  • retinal rod cell CL0000604
    CSI 12.21
    rCSI 21.52%
    PRS 79.51
  • inhibitory interneuron CL0000498
    CSI 11.47
    rCSI 26.49%
    PRS 72.68
  • retinal cone cell CL0000573
    CSI 11.32
    rCSI 18.23%
    PRS 74.9
  • neuroblast (sensu Vertebrata) CL0000031
    CSI 11.12
    rCSI 14.27%
    PRS 80.4
  • interneuron CL0000099
    CSI 11.01
    rCSI 22.11%
    PRS 75.54
  • retinal bipolar neuron CL0000748
    CSI 10.53
    rCSI 19.73%
    PRS 73.41
  • neuroblast (sensu Nematoda and Protostomia) CL0000338
    CSI 9.97
    rCSI 11.52%
    PRS 76.59
  • GABAergic amacrine cell CL4030027
    CSI 9.14
    rCSI 31.29%
    PRS 70.33
  • neuron CL0000540
    CSI 8.21
    rCSI 21.86%
    PRS 71.58
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 8.11
    rCSI 47.74%
    PRS 67.89
  • Mueller cell CL0000636
    CSI 7.95
    rCSI 18.13%
    PRS 76.17
  • central nervous system neuron CL2000029
    CSI 7.63
    rCSI 56.06%
    PRS 72.61
  • cerebellar granule cell CL0001031
    CSI 7.12
    rCSI 10.47%
    PRS 77.54
  • amacrine cell CL0000561
    CSI 6.76
    rCSI 19.59%
    PRS 74.13
  • rod bipolar cell CL0000751
    CSI 6.67
    rCSI 11.99%
    PRS 77.99
  • lung neuroendocrine cell CL1000223
    CSI 6.6
    rCSI 9.76%
    PRS 87.02
  • cerebral cortex neuron CL0010012
    CSI 6.18
    rCSI 25.2%
    PRS 76.12
  • oligodendrocyte CL0000128
    CSI 6.12
    rCSI 18.09%
    PRS 75.22
  • glycinergic amacrine cell CL4030028
    CSI 6.05
    rCSI 15.76%
    PRS 78.27
  • dopaminergic neuron CL0000700
    CSI 5.01
    rCSI 28.3%
    PRS 70.81
  • neural cell CL0002319
    CSI 5.01
    rCSI 18.9%
    PRS 67.25
  • L2/3 intratelencephalic projecting glutamatergic neuron CL4030059
    CSI 4.91
    rCSI 10.64%
    PRS 71.92
  • differentiation-committed oligodendrocyte precursor CL4023059
    CSI 4.65
    rCSI 8.45%
    PRS 76.24
  • peripheral nervous system neuron CL2000032
    CSI 4.55
    rCSI 6.2%
    PRS 76.29
  • L4 intratelencephalic projecting glutamatergic neuron CL4030063
    CSI 4.04
    rCSI 9.67%
    PRS 71.43
  • glial cell CL0000125
    CSI 3.98
    rCSI 15.16%
    PRS 75.79
  • ON parasol ganglion cell CL4033052
    CSI 3.46
    rCSI 49.13%
    PRS 75.69
  • GABAergic neuron CL0000617
    CSI 3.39
    rCSI 11.34%
    PRS 68.59
  • pancreatic A cell CL0000171
    CSI 3.28
    rCSI 3.44%
    PRS 87.13
  • pancreatic D cell CL0000173
    CSI 3.14
    rCSI 3.08%
    PRS 86.27
  • S cone cell CL0003050
    CSI 3
    rCSI 13.17%
    PRS 78.72
  • H1 horizontal cell CL0004217
    CSI 2.77
    rCSI 10.98%
    PRS 78.68
  • OFF midget ganglion cell CL4033047
    CSI 2.74
    rCSI 55.76%
    PRS 75.27
  • direct pathway medium spiny neuron CL4023026
    CSI 2.71
    rCSI 64.87%
    PRS 65.37
  • ON midget ganglion cell CL4033046
    CSI 2.7
    rCSI 55.07%
    PRS 74.27
  • indirect pathway medium spiny neuron CL4023029
    CSI 2.63
    rCSI 63.53%
    PRS 65.84
  • H2 horizontal cell CL0004218
    CSI 2.43
    rCSI 12.08%
    PRS 78.48
  • glutamatergic neuron CL0000679
    CSI 2.32
    rCSI 4.77%
    PRS 71.37
  • L5/6 near-projecting glutamatergic neuron CL4030067
    CSI 2.21
    rCSI 7.26%
    PRS 70.44
  • retinal pigment epithelial cell CL0002586
    CSI 1.73
    rCSI 3.44%
    PRS 80.02
  • invaginating midget bipolar cell CL4033034
    CSI 1.7
    rCSI 10.06%
    PRS 75.56
  • midbrain dopaminergic neuron CL2000097
    CSI 1.53
    rCSI 9.79%
    PRS 79.28
  • type B pancreatic cell CL0000169
    CSI 1.44
    rCSI 3.19%
    PRS 83.88
  • neuroendocrine cell CL0000165
    CSI 1.34
    rCSI 5.2%
    PRS 90.37
  • retina horizontal cell CL0000745
    CSI 1.24
    rCSI 1.89%
    PRS 81.02
  • starburst amacrine cell CL0004232
    CSI 1.19
    rCSI 10.01%
    PRS 71.85
  • diffuse bipolar 3a cell CL4033029
    CSI 0.99
    rCSI 6.75%
    PRS 76.22

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.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Comma-separated if multiple.
Comma-separated if multiple.
Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [MTMR7](/details-gene/9108), or myotubularin related protein 7, is a protein-coding gene located on chromosome 8p22. It belongs to the myotubularin family of dual-specificity phosphatases, which are known to regulate cellular signaling and membrane trafficking through the dephosphorylation of phosphoinositides ([Link](https://doi.org/10.1093/hmg/7.11.1703)). Functionally, [MTMR7](/details-gene/9108) exhibits phosphatase activity against key lipid second messengers, including phosphatidylinositol-3-phosphate (PI(3)P) and phosphatidylinositol-3,5-bisphosphate (PI(3,5)P2). Expression data reveals that **Overall**, [MTMR7](/details-gene/9108) is a highly significant gene in the central nervous system, with its expression being particularly prominent in various subtypes of cortical neurons, especially GABAergic interneurons, suggesting a specialized role in neuronal function and signaling. ## Cellular Roles and Expression Landscape The expression profile of [MTMR7](/details-gene/9108) strongly indicates a primary role within the nervous system. The gene shows its highest significance in a diverse array of neuronal cell types. **Overall**, it is a defining marker for multiple classes of inhibitory interneurons, including [lamp5 GABAergic cortical interneuron](/details-cell/CL4023011) (CSI: 32.30), [pvalb GABAergic cortical interneuron](/details-cell/CL4023018) (CSI: 28.46), and [sncg GABAergic cortical interneuron](/details-cell/CL4023015) (CSI: 27.95). Its significance extends to glutamatergic excitatory neurons, such as [L2/3-6 intratelencephalic projecting glutamatergic neuron](/details-cell/CL4023040) (CSI: 18.95) and [L5 extratelencephalic projecting glutamatergic cortical neuron](/details-cell/CL4023041) (CSI: 15.71). Beyond the cortex, [MTMR7](/details-gene/9108) is also highly expressed in specialized neurons of the visual system, such as the [retinal ganglion cell](/details-cell/CL0000740) (CSI: 16.39) and [retinal rod cell](/details-cell/CL0000604) (CSI: 12.21). This specific and high-level expression across functionally distinct neuronal populations points to a fundamental role in maintaining neuronal homeostasis and function, likely through the regulation of membrane dynamics essential for synaptic transmission and cellular integrity. The notable absence of hematopoietic, endothelial, or epithelial cells from the top-expressed list suggests a highly specialized function for [MTMR7](/details-gene/9108) within the nervous system. ## Pathways and Molecular Function The molecular functions of [MTMR7](/details-gene/9108) are centered on its role as a lipid phosphatase within the [Inositol phosphate metabolism](/details-pathway/R-HSA-1483249) pathway. According to Gene Ontology annotations, it possesses [phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity](/details-go/GO:0052629) and [phosphatidylinositol-3-phosphate phosphatase activity](/details-go/GO:0004438). These activities are crucial for regulating the levels of phosphoinositides, which act as signaling molecules and platforms for protein recruitment on various cellular membranes. The dephosphorylation of PI(3)P and PI(3,5)P2 is critical for processes occurring on endosomal membranes. Indeed, research on the myotubularin family has highlighted their role in endosome-related functions and subcellular localization ([Link](https://doi.org/10.1242/jcs.03040)). This enzymatic activity is consistent with its high expression in neurons, where precise control over endomembrane trafficking is vital for neurotransmitter release, receptor recycling, and axonal transport. Its localization to the [cytoplasm](/details-go/GO:0005737) and [endomembrane system](/details-go/GO:0012505) further supports its involvement in these dynamic cellular processes. The gene's participation in broader pathways such as [Metabolism of lipids](/details-pathway/R-HSA-556833) underscores its fundamental contribution to cellular lipid homeostasis. ## Research Directions The specific enrichment of [MTMR7](/details-gene/9108) in distinct neuronal subtypes, particularly inhibitory interneurons, provides a clear basis for further investigation into its role in neurological function and disease. **Proposed Hypotheses:** 1. Given its high significance in fast-spiking [pvalb GABAergic cortical interneuron](/details-cell/CL4023018) and other interneuron subtypes, deregulation of [MTMR7](/details-gene/9108) phosphatase activity may alter the phosphoinositide composition of the plasma and endosomal membranes, leading to impaired ion channel function, vesicle recycling, and synaptic transmission. This could disrupt the excitatory/inhibitory balance in cortical circuits, potentially contributing to seizure susceptibility or other neurological disorders. 2. The high expression of [MTMR7](/details-gene/9108) in [retinal rod cell](/details-cell/CL0000604) and [retinal ganglion cell](/details-cell/CL0000740) suggests it plays a critical role in the unique membrane trafficking demands of the visual system. [MTMR7](/details-gene/9108) may be essential for the proper recycling of phototransduction components or for maintaining the structural integrity of photoreceptor outer segments, and its loss-of-function could be a driver of retinal degenerative diseases. **Experimental Approach:** To test the first hypothesis regarding its role in cortical interneurons, a conditional knockout mouse model could be generated using a Cre-Lox system with a Pvalb-Cre driver to specifically delete [MTMR7](/details-gene/9108) in parvalbumin-positive interneurons. Electrophysiological analysis, specifically whole-cell patch-clamp recordings from these targeted neurons in brain slices, could be performed to measure intrinsic firing properties, synaptic currents (mIPSCs/mEPSCs), and responses to stimulation. Furthermore, lipidomics analysis of isolated interneurons could directly assess whether the loss of [MTMR7](/details-gene/9108) leads to the predicted accumulation of its substrate lipids, PI(3)P and PI(3,5)P2. **Therapeutic Potential:** As an intracellular enzyme, [MTMR7](/details-gene/9108) is not a conventional target for antibody-based therapies. However, its specific expression pattern and crucial enzymatic function suggest it could be a target for small molecule modulators. If hyperactivity of [MTMR7](/details-gene/9108) is linked to a neurological condition by depleting essential phosphoinositides, a highly specific small molecule inhibitor could have therapeutic value. Conversely, if a loss-of-function mutation is identified as pathogenic, strategies aimed at activating the remaining protein or gene replacement therapy could be considered. The primary challenge would be developing a sufficiently specific compound to avoid disrupting the broader phosphoinositide signaling network, which is fundamental to all cells.

Genular Protein ID: 1024341116

Symbol: MTMR7_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9Y216 A1L4K9 B4DG87 Q68DX4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CTD 1 ChEBI 18 ChiTaRS 1 DEPOD 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 6 Ensembl 2 ExpressionAtlas 1 GO 12 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 2 RefSeq 1 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: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

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: 9736772

Title: Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.

PubMed ID: 9736772

DOI: 10.1093/hmg/7.11.1703

PubMed ID: 16787938

Title: Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions.

PubMed ID: 16787938

DOI: 10.1242/jcs.03040

Sequence Information:

  • Length: 660
  • Mass: 75833
  • Checksum: 05374B19BB500580
  • Sequence:
    • MEHIRTPKVE NVRLVDRVSP KKAALGTLYL TATHVIFVEN SPDPRKETWI LHSQISTIEK 
QATTATGCPL LIRCKNFQII QLIIPQERDC HDVYISLIRL ARPVKYEELY CFSFNPMLDK 
EEREQGWVLI DLSEEYTRMG LPNHYWQLSD VNRDYRVCDS YPTELYVPKS ATAHIIVGSS 
KFRSRRRFPV LSYYYKDNHA SICRSSQPLS GFSARCLEDE QMLQAIRKAN PGSDFVYVVD 
TRPKLNAMAN RAAGKGYENE DNYSNIKFQF IGIENIHVMR NSLQKMLEVC ELKSPSMSDF 
LWGLENSGWL RHIKAIMDAG IFIAKAVSEE GASVLVHCSD GWDRTAQVCS VASLLLDPHY 
RTLKGFMVLI EKDWISFGHK FNHRYGNLDG DPKEISPVID QFIECVWQLM EQFPCAFEFN 
ERFLIHIQHH IYSCQFGNFL CNSQKERREL KIQERTYSLW AHLWKNRADY LNPLFRADHS 
QTQGTLHLPT TPCNFMYKFW SGMYNRFEKG MQPRQSVTDY LMAVKEETQQ LEEELEALEE 
RLEKIQKVQL NCTKVKSKQS EPSKHSGFST SDNSIANTPQ DYSGNMKSFP SRSPSQGDED 
SALILTQDNL KSSDPDLSAN SDQESGVEDL SCRSPSGGEH APSEDSGKDR DSDEAVFLTA

Genular Protein ID: 2293041842

Symbol: B7Z9Q7_HUMAN

Name: N/A

UniProtKB Accession Codes:

B7Z9Q7

Database IDs:

ARBA 7 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChEBI 4 DNASU 1 DisGeNET 1 EC 1 EMBL 2 GO 6 Gene3D 1 InterPro 9 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSR 2 PROSITE 5 PeptideAtlas 1 Pfam 2 PharmGKB 1 RefSeq 1 Rhea 1 SAM 2 SMART 1 SUPFAM 2

Sequence Information:

  • Length: 660
  • Mass: 75797
  • Checksum: FFBB986636E825AA
  • Sequence:
    • MEHIRTPRVE NVRLVDRVSP KKAALGTLYS TATHVIFVEN SPDARKETWI LHSQISTIEK 
QATTATGCPL LIRCKNFQII QLIIPQERDC HDVYISLIRL ARPVKYEELY CFSFNPMLDK 
EEREQGWVLI DLSEEYTRMG LPNHYWQLSD VNRDYRVCDS YPTELYVPKS ATAHIIVGSS 
KFRSRRRFPV LSYYYKDNHA SICRSSQPLS GFSARCLEDE QMLQAIRKAN PGSDFVYVVD 
TRPKLNAMAN RAAGKGYENE DNYSNIKFQF IGIENIHVMR NSLQKMLEVC ELKSPSMSDF 
LWGLENSGWL RHIKAIMDAG IFIAKAVSEE GASVLVHCSD GWDRTAQVCS VASLLLDPHY 
RTLKGFMVLI EKDWISFGHK FNHRYGNLDG DPKEISPVTD QFIECVWQLM EQFPCAFEFN 
ERFLIHIQHH IYSCQFGNFL CNSQKERREL KIQERTYSLW AHLWKNRADY LNPLFRADHS 
QTQGTLHLPT TPCNFMYKFW SGMYNRFEKG MQPRQSVTDY LMAVKEETQQ LEEELEALEE 
RLEKIQKVQL NCTKVKSKQS EPSKHSGFST SDNSIANTPQ DYSGNMKSFP SRSPSQGDED 
SALILTQDNL KSSDPDLSAN SDQESGVEDL SCRSPSGGEH APSEDSGKDR DSDEAVFLTA

Genular Protein ID: 1778024424

Symbol: B7ZAG8_HUMAN

Name: N/A

UniProtKB Accession Codes:

B7ZAG8

Database IDs:

ARBA 7 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChEBI 4 DNASU 1 DisGeNET 1 EC 1 EMBL 2 GO 6 Gene3D 1 InterPro 9 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSR 2 PROSITE 5 Pfam 2 PharmGKB 1 RefSeq 1 Rhea 1 SAM 2 SMART 1 SUPFAM 2

Sequence Information:

  • Length: 660
  • Mass: 75783
  • Checksum: 48DC9E26FC6D7DBB
  • Sequence:
    • MEHIRTPKVE NVRLVDRVSP KKAALGTLYL TATHVIFVEN SPDARKETWI LHSQISTIEK 
QATTATGCPL LIRCKNFQII QLIIPQERDC HDVYISLIRL ARPVKYEELY CFSFNPMLDK 
EEREQGWVLI DLSEEYTRMG LPNHYWQLSD VNRDYRVCDS YPTELYVPKS ATAHIIVGSS 
KFRSRRRFPV LSYYYKDNHA SICRSSQPLS GFSARCLEDE QMLQAIRKAN PGSDFVYVVD 
TRPKLNAMAN RAAGKGYENE DNYSNIKFQF IGIENIHVMR NSLQKMLEVC ELKSPSMSDF 
LWGLENSGWL RHIKAIMDAG IFIAKAVSEE GASVLVHCSD GWDRTAQVCS VASLLLDPHY 
RTLKGFMVLI EKDWISFGHK FNHRYGNLDG DPKEISPVID QFIECVWQLM EQFPCAFEFN 
ERFLIHIQHH IYSCQFGNFL CNSQKERREL KIQERTYSLW AHLWKNRADY LNPLFRADHS 
QTQGTLHLPT TPCNFMYKFW SGMYNRFEKG MQPRQSVTDY LMAVKEETKQ LEEELEALEE 
RLEKIQKVQL NCTKVKSKQS EPSKHSGFST SDNSIANTPQ DYSGNMKPFP SRSPSQGDED 
SALILTQDNL KSSDPDLSAN SDQESGVEDL SCRSPSGGEH APSEDSGKDR DSDEAVLLTA