BIOLOGÍA MLECULAR APLICADA Sep-Dic 2021

Instrumento de evaluación
ACTIVIDAD 1
UNIDAD DE APRENDIZAJE: I
NOMBRE: Carranza Martínez Ana Cristina GRUPO: Bio1001

Actividad 1 – BASE DE DATOS (BIOINFORMÁTICA)

Instrucciones:
1. Investigar una proteína de interés (GenBank) y describirla (máximo 20 renglones)
2. Entrar a las Bases de Datos y buscar la información presentada en la siguiente tabla, sobre el gen /proteína
de interés

Campo Descripción

Locus name NM_001382347

Sequence length 395

Molecule Type Miosina-Va no convencional

Genbank Division División a la que pertenece la secuencia

Modification Date Fecha de la última modificación

Definition isoforma 3 de miosina-Va no convencional [Homo sapiens].

ACCESIÓN NP_001369276 XP_005254454

Accession
VERSIÓN NP_001369276.1

Version NP_001369276.1

GI 4644

Keywords RefSeq; MANE Select.

Source Homo sapiens (human)

Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Organism
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.

REFERENCE 1 (bases 1 to 12130)

AUTHORS Goncalves J, Sharma A, Coyaud E, Laurent EMN, Raught B and
Pelletier L.
Reference
TITLE LUZP1 and the tumor suppressor EPLIN modulate actin stability to
restrict primary cilia formation
JOURNAL J Cell Biol 219 (7) (2020)
 BIOLOGÍA MLECULAR APLICADA Sep-Dic 2021
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PUBMED 32496561
REMARK GeneRIF: LUZP1 and the tumor suppressor EPLIN modulate actin
stability to restrict primary cilia formation.
REFERENCE 2 (bases 1 to 12130)
AUTHORS Dolce LG, Silva-Junior RMP, Assis LHP, Nascimento AFZ, Araujo
JS,
Meschede IP, Espreafico EM, de Giuseppe PO and Murakami MT.
TITLE Myosin Va interacts with the exosomal protein spermine synthase
JOURNAL Biosci Rep 39 (3) (2019)
PUBMED 30733278
REMARK GeneRIF: Spermine synthase (SMS) localized together with
myosin Va
(MyoVa) in cytoplasmic vesicles of breast cancer MCF-7 and
neuroblastoma SH-SY5Y cell lines, known to produce exosomes,
supporting a role for MyoVa in SMS expression and targeting.
Publication Status: Online-Only
REFERENCE 3 (bases 1 to 12130)
AUTHORS Sato N, Fujishima F, Nakamura Y, Aoyama Y, Onodera Y, Ozawa
Y, Ito
K, Ishida H, Kamei T, Watanabe M and Sasano H.
TITLE Myosin 5a regulates tumor migration and epithelial-mesenchymal
transition in esophageal squamous cell carcinoma: utility as a
prognostic factor
JOURNAL Hum Pathol 80, 113-122 (2018)
PUBMED 29898384
REMARK GeneRIF: demonstrate that high expression of myosin 5a may be
an
independent prognostic factor in patients with Esophageal squamous
cell carcinoma
REFERENCE 4 (bases 1 to 12130)
AUTHORS Horikawa Y, Hosomichi K, Enya M, Ishiura H, Suzuki Y, Tsuji S,
Sugano S, Inoue I and Takeda J.
TITLE No novel, high penetrant gene might remain to be found in
Japanese
patients with unknown MODY
JOURNAL J Hum Genet 63 (7), 821-829 (2018)
PUBMED 29670293
REMARK GeneRIF: MYO5A, having rare amino acid mutations p.R849Q and
p.V1601G, was involved in the biological network of known MODY
genes.
 BIOLOGÍA MLECULAR APLICADA Sep-Dic 2021
Instrumento de evaluación
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NOMBRE: Carranza Martínez Ana Cristina GRUPO: Bio1001

REFERENCE 5 (bases 1 to 12130)

AUTHORS Wu CT, Chen HY and Tang TK.
TITLE Myosin-Va is required for preciliary vesicle transportation to the
mother centriole during ciliogenesis
JOURNAL Nat Cell Biol 20 (2), 175-185 (2018)
PUBMED 29335527
REMARK GeneRIF: Depletion of myosin-Va significantly inhibits the
attachment of preciliary vesicles to the distal appendages of the
mother centriole and decreases cilia assembly. Myosin-Va functions
upstream of EHD1- and Rab11-mediated ciliary vesicle formation.
REFERENCE 6 (bases 1 to 12130)
AUTHORS Lambert J, Naeyaert JM, Callens T, De Paepe A and Messiaen L.
TITLE Human myosin V gene produces different transcripts in a cell
type-specific manner
JOURNAL Biochem Biophys Res Commun 252 (2), 329-333 (1998)
PUBMED 9826529
REFERENCE 7 (bases 1 to 12130)
AUTHORS Pastural E, Barrat FJ, Dufourcq-Lagelouse R, Certain S, Sanal O,
Jabado N, Seger R, Griscelli C, Fischer A and de Saint Basile G.
TITLE Griscelli disease maps to chromosome 15q21 and is associated with
mutations in the myosin-Va gene
JOURNAL Nat Genet 16 (3), 289-292 (1997)
PUBMED 9207796
REMARK Erratum:[Nat Genet 1999 Nov;23(3):373]
REFERENCE 8 (bases 1 to 12130)
AUTHORS Moore KJ, Testa JR, Francke U, Milatovich A, Copeland NG and
Jenkins NA.
TITLE Cloning and regional assignment of the human myosin heavy chain
12
(MYH12) gene to chromosome band 15q21
JOURNAL Cytogenet Cell Genet 69 (1-2), 53-58 (1995)
PUBMED 7835087
REFERENCE 9 (bases 1 to 12130)
AUTHORS Bement WM, Hasson T, Wirth JA, Cheney RE and Mooseker MS.
TITLE Identification and overlapping expression of multiple
unconventional myosin genes in vertebrate cell types
JOURNAL Proc Natl Acad Sci U S A 91 (14), 6549-6553 (1994)
PUBMED 8022818
REMARK Erratum:[Proc Natl Acad Sci U S A. 1994 Nov 22;91(24):11767.
PMID:
 BIOLOGÍA MLECULAR APLICADA Sep-Dic 2021
Instrumento de evaluación
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NOMBRE: Carranza Martínez Ana Cristina GRUPO: Bio1001

7972138]
REFERENCE 10 (bases 1 to 12130)
AUTHORS Engle LJ and Kennett RH.
TITLE Cloning, analysis, and chromosomal localization of myoxin (MYH12),
the human homologue to the mouse dilute gene
JOURNAL Genomics 19 (3), 407-416 (1994)
PUBMED 8188282
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff.
The
reference sequence was derived from AC025917.8, AC018902.8,
KF459554.1 and AC010674.11.
On Apr 30, 2020 this sequence version replaced XM_005254397.4.

Summary: This gene is one of three myosin V heavy-chain genes,

belonging to the myosin gene superfamily. Myosin V is a class of
actin-based motor proteins involved in cytoplasmic vesicle
transport and anchorage, spindle-pole alignment and mRNA
translocation. The protein encoded by this gene is abundant in
melanocytes and nerve cells. Mutations in this gene cause Griscelli
syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and
neuroectodermal melanolysosomal disease, or Elejalde disease.
Multiple alternatively spliced transcript variants encoding
different isoforms have been reported, but the full-length nature
of some variants has not been determined. [provided by RefSeq, Dec
2008].

source 1..1880
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="15"
/map="15q21.2"
Protein 1..1880
/product="unconventional myosin-Va isoform 3"
Features
/note="myosin-Va; myoxin; myosin V; myosin, heavy
polypeptide kinase; myosin-12; dilute myosin heavy chain,
non-muscle; unconventional myosin-Va; myosin VA (heavy
chain 12, myoxin)"
/calculated_mol_wt=218478
Site 2
/site_type="acetylation"
 BIOLOGÍA MLECULAR APLICADA Sep-Dic 2021
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/note="N-acetylalanine.
/evidence=ECO:0007744|PubMed:22814378; propagated from
UniProtKB/Swiss-Prot (Q9Y4I1.2)"
Region 7..1448
/region_name="COG5022"
/note="Myosin heavy chain [General function prediction
only]"
/db_xref="CDD:227355"
Region 83..751
/region_name="MYSc_Myo5"
/note="class V myosin, motor domain; cd01380"
/db_xref="CDD:276831"
Region 598..631
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y4I1.2)"
Site 600
/site_type="phosphorylation"
/note="Phosphoserine.
/evidence=ECO:0007744|PubMed:23186163; propagated from
UniProtKB/Swiss-Prot (Q9Y4I1.2)"
Region 643..665
/region_name="Actin-binding. /evidence=ECO:0000255"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y4I1.2)"
Site 1032
/site_type="phosphorylation"
/note="Phosphothreonine.
/evidence=ECO:0000250|UniProtKB:Q9QYF3; propagated from
UniProtKB/Swiss-Prot (Q9Y4I1.2)"
Site 1477
/site_type="phosphorylation"
/note="Phosphoserine.
/evidence=ECO:0007744|PubMed:20068231; propagated from
UniProtKB/Swiss-Prot (Q9Y4I1.2)"
Region 1506..1880
/region_name="Myo5a_CBD"
/note="Cargo binding domain of myosin 5a; cd15478"
/db_xref="CDD:271262"
Site 1677
/site_type="phosphorylation"
 BIOLOGÍA MLECULAR APLICADA Sep-Dic 2021
Instrumento de evaluación
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NOMBRE: Carranza Martínez Ana Cristina GRUPO: Bio1001

/note="Phosphoserine.
/evidence=ECO:0007744|PubMed:23186163; propagated from
UniProtKB/Swiss-Prot (Q9Y4I1.2)"
Site 1785
/site_type="phosphorylation"
/note="Phosphothreonine. /evidence=ECO:0000255; propagated
from UniProtKB/Swiss-Prot (Q9Y4I1.2)"

source Homo sapiens (human)

https://www.ncbi.nlm.nih.gov/gene/4644
Taxon

ctgatccaga ggaagtctgg aagtcagcag agctgctcaa agattataag ccaggagata

181 aagtcctcct gcttcacctc gaggaaggaa aggatttgga ataccatcta gatccaaaga
241 ccaaggagct gcctcactta cgaaatcctg acatacttgt tggtgaaaat gacctcacag
301 ccctcagcta tcttcatgag cctgctgtgc tccataatct cagagtccgc tttattgatt
361 ccaaacttat ttatacgtat tgtggtatag tcctagtagc tataaatccc tatgaacagc
421 tgcctattta tggagaagat attattaatg catacagtgg tcagaacatg ggtgatatgg
481atccacatat ctttgcagta gctgaagaag cttacaagca aatggccaga gatgaacgaa
541 atcagtccat catcgtaagt ggagagtctg gggcaggaaa aacagtctca gctaagtatg
601 ccatgcgata ctttgcaact gtgagtggtt ctgccagtga ggccaatgtg gaggaaaagg
661 tcttggcctc caaccccatc atggagtcca ttggaaatgc taaaacaacc aggaatgata
721 atagcagccg ttttgggaag tatattgaga ttggttttga taagagatat cgaatcattg
781 gtgccaatat gagaacttat cttttagaga aatccagagt ggtattccag gcagaagagg
841 agagaaacta tcatatcttc tatcagcttt gtgcctcagc aaagttacct gaatttaaaa
901 tgctacgatt aggaaatgca gataacttta attacacaaa acaaggaggc agtcctgtga
CDS
961ttgaaggagt ggatgatgca aaggagatgg cacatactag gcaggcctgc actttgctag
1021 gaattagtga atctcatcaa atgggaattt tccgaatact tgctggcatc cttcacttag
1081 gcaatgttgg atttacatcc cgagatgcag acagctgcac aatacctccc aagcatgaac
1141 ctctctgcat cttctgtgaa ctcatgggtg tggactatga ggagatgtgt cactggctct
1201 gccatcggaa actggctact gccacagaga catacatcaa gcccatctcc aagctgcagg
1261 ccacgaatgc ccgcgatgct ttggccaagc acatctatgc caagctcttt aactggattg
1321 tagataatgt caatcaggct ctccattctg ctgtcaaaca gcactctttt attggtgtgc
1381 tagacattta cggatttgaa acatttgaga taaatagttt tgaacagttt tgcataaatt
1441atgcaaatga aaaactacag caacaattca atatgcatgt cttcaaattg gagcaagaag
1501 aatatatgaa ggaacaaatt ccatggacac tcatagattt ttatgataat cagccttgta
1561 ttaatcttat agaatcaaaa ctaggcattc tagatttact ggatgaggaa tgcaagatgc
1621 ctaaaggcac agatgacacc tgggcccaaa aattgtacaa cacacatttg aacaaatgtg
1681 cactttga aaagcctcgt ctatcaaaca aagctttcat catccaacat tttgctgaca
1741 aagtggaata ccagtgtgaa ggatttctcg aaaagaataa agacaccgtt tttgaagaac
 BIOLOGÍA MLECULAR APLICADA Sep-Dic 2021
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1801 aaattaaagt tcttaaatca agcaagttta agatgctacc agaactattt caagatgatg

1861 agaaggccat cagtccaact tcagccacct cctcagggcg cacacccctc acacgaactc
1921ctgcaaagcc caccaaaggc agaccaggcc aaatggccaa agagcacaag aaaacagtgg
1981 ggcatcagtt cagaaactcc ctgcacctgc ttatggagac actcaatgcc actacccctc
2041 actatgtgcg ctgtatcaag cctaatgact tcaagttccc attcacgttt gatgagaaga
2101 gggcagtgca gcagctgaga gcatgtggtg tcctggaaac catccgaatc agtgcggccg
2161 gtttcccctc acggtggact taccaagaat ttttcagccg ctaccgtgtc ctaatgaagc
2221 agaaagatgt gctgagtgac agaaagcaaa catgcaagaa tgtgttagag aaactgatac
2281 tggacaagga caaataccag tttggtaaga caaagatctt tttccgtgcc ggtcaagtgg
2341 cctatctaga aaaattgaga gctgacaaac tgagagctgc ctgcatccgg atccagaaga
2401ccatccgagg gtggctgctg agaaagaagt acctacgcat gcggaaggca gccatcacca
2461 tgcagagata cgtgcggggc taccaggccc gatgctatgc taagtttctg cgcagaacca
2521 aggcagcaac catcattcaa aagtactggc gcatgtatgt ggtccgcagg aggtacaaga
2581 ttagacgagc tgccactatc gttcttcagt cttacttgcg aggcttcttg gccagaaata
2641 ggtatcgcaa gatactccgt gagcacaaag cagtcatcat tcagaagcga gtccggggct
2701 ggctggcccg cacacactac aagaggagca tgcatgccat catctacctt cagtgctgct
2761 tcaggcggat gatggccaag cgtgagctaa agaagctcaa aatcgaggct cgctcagtgg
2821 agcgctataa gaagctgcac atcggcatgg agaacaagat catgcagctg cagcgcaaag
2881ttgatgagca gaacaaagac tacaaatgcc ttgtggagaa actaaccaat ctggaaggaa
2941 tatacaactc tgagactgag aaactacgaa gtgacttaga acgtcttcaa ctaagtgaag
3001 aggaagcgaa agttgccact gggcgggtcc ttagtctgca ggaagaaatt gccaagctcc
3061 ggaaagacct ggagcaaact cgttcagaga aaaaatgcat tgaggaacat gcagatcgat
3121 acaaacaaga aacagagcag ctggtatcaa atctgaagga agaaaatact ttgctgaagc
3181 aagaaaaaga agccctcaat caccgcatcg tgcagcaggc taaggagatg acagaaacta
3241 tggagaagaa gttagtagaa gaaacgaaac aactggaact cgaccttaat gatgaaaggc
3301 tgagatatca gaaccttctg aatgagttca gtcgcctgga agaaagatat gatgacctca
3361aggaagagat gacccttatg gtgcatgtgc ctaagcctgg acacaagaga acagactcca
3421 cccacagcag caacgagtct gaatatatct ttagctctga aattgcagaa atggaagaca
3481 ttccatcaag gacagaggaa ccaagtgaga agaaggtacc tctggacatg tcattgttcc
3541 ttaagctcca gaagcgggtc acagagctgg agcaggagaa gcaggtgatg caggatgagc
3601 tggaccgcaa ggaggagcag gtgctccgca gcaaggccaa ggaagaagaa
agaccacaaa
3661 ttagaggtgc agaactggaa tatgagtcac tcaagcgtca agaactagaa tcagaaaaca
3721 aaaaactgaa gaatgagcta aatgagttgc gcaaggccct cagtgagaaa agtgccccag
3781 aggtgaccgc cccaggtgca cctgcctacc gtgtcctcat ggagcagctg acctctgtga
3841gcgaggagct tgatgtccgc aaggaggaag tcctcatctt aaggtctcaa ctggtgagcc
3901 agaaagaggc catccaaccc aaggatgaca agaatacaat gacagattcc acaatacttt
3961 tggaagatgt acaaaaaatg aaagataaag gtgaaatagc acaagcatac attggtttga
4021 aagaaacaaa tagatcatct gctctggatt accatgagtt gaatgaggat ggagagctgt
4081 ggctggttta tgaagggtta aaacaagcca acaggctcct ggaatcccag ctgcagtcac
 BIOLOGÍA MLECULAR APLICADA Sep-Dic 2021
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4141 agaagaggag ccatgagaat gaggccgagg ccctccgtgg ggagatccag agcctgaagg

4201 aggagaacaa ccgacagcag cagctgctgg cccagaacct gcagctgccc ccagaggccc
4261 gcattgaggc cagcctgcag cacgagatca cccggctgac caacgaaaac ttgtattttg
4321aggaattata tgcagatgac cctaagaagt atcaatcata tcggatttcc ctttacaaac
4381 ggatgattga tttgatggaa caacttgaaa aacaggataa gacggtccgt aaactgaaaa
4441 aacaactgaa agtatttgcc aaaaaaattg gcgaactaga agtgggccag atggagaaca
4501 tatccccagg acagatcatt gatgaaccca tccgaccagt caacattccc aggaaagaaa
4561 aggatttcca agggatgctg gaatacaaga aggaggatga gcaaaaactt gttaagaacc
4621 tgattctgga actgaagcca cgtggtgtag cagtcaattt gattccagga ttaccggcat
4681 atatcctgtt catgtgtgtt cgacatgctg actacctgaa tgatgatcag aaagtaaggt
4741 cgttgctaac atcaacaatt aacagcatca aaaaagtatt gaagaaaaga ggtgatgatt
4801ttgaaaccgt ctccttctgg ctctctaaca catgccgatt tttgcactgc ttgaaacagt
4861 acagtggaga agagggcttt atgaagcaca acacatctcg ccagaatgaa cactgcctca
4921 ccaattttga cctggctgag tatcggcagg tgctgagtga cttggccatt cagatctacc
4981 agcagctcgt gcgggtgtta gagaacatcc ttcagccaat gattgtctca ggcatgctgg
5041 aacatgaaac gattcagggc gtgtctgggg tgaagcccac agggttgaga aagcgaacct
5101 ccagtatcgc cgatgagggc acctacacac tggactccat cctccggcag ctcaactcct
5161 tccactcggt catgtgtcag catggcatgg accctgaact gatcaagcag gtggtcaagc
5221 agatgttcta catcataggg gccatcaccc tgaacaacct tctcctgcgg aaggacatgt
5281gctcctggag taaaggcatg cagatcaggt acaatgtcag tcaactggaa gaatggctgc
5341 gtgacaagaa tctgatgaat agtggggcta aagaaaccct ggaacctctc attcaggctg
5401 ctcaactttt gcaagtgaaa aagaaaacag atgatgatgc agaagccatt tgttctatgt
5461 gcaatgcttt aactactgcc cagattgtga aagtgttgaa tttgtatact ccagttaatg
5521 agtttgaaga aagagtctct gtgtcgttca ttcgtactat acagatgcgt ttacgagaca
5581 ggaaagactc tccccagctg ctcatggatg ctaaacacat ctttcctgtc acctttcctt
5641 tcaacccatc ttccctcgca ctagaaacca tccagattcc agccagcctc ggcctgggct
5701 tcatttcacg ggtctgaaag tgatgtccag gcaaaaattg acaatacatt tcttgcccga

protein_id 4LLI

GI 4644

Translation Traducción

1..12130
/gene="MYO5A"
/gene_synonym="GS1; MYH12; MYO5; MYR12"
gene /note="myosin VA"
/db_xref="GeneID:4644"
/db_xref="HGNC:HGNC:7602"
/db_xref="MIM:160777"
 BIOLOGÍA MLECULAR APLICADA Sep-Dic 2021
Instrumento de evaluación
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Tipo de variante:SNVAlelos:G> A [Mostrar flancos]Cromosoma:15: 52379702

(GRCh38)
15: 52671899 (GRCh37)
SPDI canónico :NC_000015.10: 52379701: G: AGene:MYO5A ( Varview
)Consecuencia funcional:coding_sequence_variant,
missense_variantValidado:por frecuencia, por alfa, por conglomeradoMAF:
A = 0. / 0 ( ALFA )
A = 0.000008 / 1 (ExAC)
A = 0.000008 / 2 (TOPMED)
A = 0.000012 / 3 (GnomAD_exomes)
...más
HGVS:
SNP
NC_000015.10: g.52379702G> A , NC_000015.9: g.52671899G> A ,
NG_009887.1: g.154349C> T , NM_000259.3: c.2131C> T , NM_001142495.2:
c.2131C> T , NM_001142495.1: c.2131C> T , NM_001382348.1: c.2203C> T ,
NM_001382349.1: c.2203C> T , NM_001382347.1: c.2131C> T ,
XM_011521607.3: c.2203C> T , XM_011521609.3: c.2203C> T ,
XM_011521610.3: c.2203C> T , XM_011521611.3: c.2203C> T ,
XM_011521612.3: c.2203C> T , XM_017022227.2: c.2095C> T , NP_000250.3:
p.Arg711Cys ,NP_001135967.2: p.Arg711Cys , NP_001369277.1: p.Arg735Cys
, NP_001369278.1: p.Arg735Cys , NP_001369276.1: p.Arg711Cys ,
XP_011519909.2: p.Arg735Cys , XP_011519911.2: p.Arg735Cys ,
XP_011519912. 2: p.Arg735Cys , XP_011519913.2: p.Arg735Cys ,
XP_011519914.2: p.Arg735Cys , XP_016877716.1: p.Arg699Cys
 BIOLOGÍA MLECULAR APLICADA Sep-Dic 2021
Instrumento de evaluación
ACTIVIDAD 1
UNIDAD DE APRENDIZAJE: I
NOMBRE: Carranza Martínez Ana Cristina GRUPO: Bio1001

Estructura proteína

*Este es un link de apoyo dónde se describen cada uno de los puntos de la tabla

https://www.ncbi.nlm.nih.gov/Sitemap/samplerecord.html#LocusA

3. A partir de la información encontrada, usa tu creatividad e imaginación y describe en el caso de la

enfermedad genética una posible cura y como la desarrollarías (técnicas empleadas) , y en el caso de una
proteína, una aplicación biotecnológica.