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Entry version 147 (10 Feb 2021)
Sequence version 3 (08 Apr 2008)
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Protein

Cardiomyopathy-associated protein 5

Gene

CMYA5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

May serve as an anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) via binding to PRKAR2A (By similarity). May function as a repressor of calcineurin-mediated transcriptional activity. May attenuate calcineurin ability to induce slow-fiber gene program in muscle and may negatively modulate skeletal muscle regeneration (By similarity). Plays a role in the assembly of ryanodine receptor (RYR2) clusters in striated muscle (By similarity).By similarity

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q8N3K9

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Cardiomyopathy-associated protein 5
Alternative name(s):
Dystrobrevin-binding protein 2
Genethonin-3
Myospryn1 Publication
SPRY domain-containing protein 2
Tripartite motif-containing protein 76
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CMYA5
Synonyms:C5orf10, DTNBP2, SPRYD2, TRIM76
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:14305, CMYA5

Online Mendelian Inheritance in Man (OMIM)

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MIMi
612193, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N3K9

Eukaryotic Pathogen, Vector and Host Database Resources

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VEuPathDBi
HostDB:ENSG00000164309.14

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cytoplasm, Nucleus, Sarcoplasmic reticulum

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
202333

Open Targets

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OpenTargetsi
ENSG00000164309

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA37868

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q8N3K9, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CMYA5

Domain mapping of disease mutations (DMDM)

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DMDMi
182627649

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003287221 – 4069Cardiomyopathy-associated protein 5Add BLAST4069

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei155PhosphoserineBy similarity1
Modified residuei631PhosphoserineBy similarity1
Modified residuei2404PhosphoserineBy similarity1
Modified residuei2813PhosphoserineBy similarity1
Modified residuei3228PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated by PKA.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8N3K9

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8N3K9

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8N3K9

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8N3K9

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q8N3K9

PeptideAtlas

More...
PeptideAtlasi
Q8N3K9

PRoteomics IDEntifications database

More...
PRIDEi
Q8N3K9

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
71818

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8N3K9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8N3K9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in skeletal muscle; at a strong level and in heart.1 Publication

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Down-regulated in muscle cell lines derived from patients with Duchenne muscular dystrophy (DMD).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000164309, Expressed in quadriceps femoris and 183 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8N3K9, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000164309, Group enriched (heart muscle, skeletal muscle)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with PRKAR2A.

Interacts with ACTN2 and DTNBP1/dysbindin (By similarity).

Interacts with DES (PubMed:17872945).

Interacts with DMD/dystrophin (By similarity).

Interacts with the calcineurin catalytic subunit PPP3CA (By similarity).

Interacts with TTN (PubMed:20634290).

Interacts with CAPN3; this interaction, which results in CMYA5 proteolysis, may protect CAPN3 from autolysis (PubMed:20634290).

Interacts with FSD2 (By similarity).

Identified in a complex composed of FSD2, CMYA5 and RYR2 (By similarity).

By similarity2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
128427, 16 interactors

Protein interaction database and analysis system

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IntActi
Q8N3K9, 13 interactors

Molecular INTeraction database

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MINTi
Q8N3K9

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000394770

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q8N3K9, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini3704 – 3805Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST102
Domaini3806 – 3898Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST93
Domaini3880 – 4065B30.2/SPRYPROSITE-ProRule annotationAdd BLAST186

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni3052 – 3365Required for RYR2 clusteringBy similarityAdd BLAST314
Regioni3517 – 3544Amphipathic helix H1Add BLAST28
Regioni3545 – 3672B-box coiled-coil; BBCAdd BLAST128
Regioni3631 – 3648Amphipathic helix H2Add BLAST18
Regioni3751 – 3767Amphipathic helix H3Add BLAST17

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili2964 – 2988Sequence analysisAdd BLAST25
Coiled coili3544 – 3653Sequence analysisAdd BLAST110

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi20 – 57Glu-richAdd BLAST38
Compositional biasi483 – 639Glu-richAdd BLAST157
Compositional biasi1584 – 1587Poly-Leu4
Compositional biasi1918 – 1921Poly-Ser4

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Amphipathic helix regions act as an anchoring domain for PKA, and appear to be responsible of the interaction between myospryn and PRKAR2A.

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2177, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000159696

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_000269_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8N3K9

Identification of Orthologs from Complete Genome Data

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OMAi
WMLEKPE

Database of Orthologous Groups

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OrthoDBi
22778at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8N3K9

TreeFam database of animal gene trees

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TreeFami
TF331281

Family and domain databases

Conserved Domains Database

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CDDi
cd00063, FN3, 2 hits

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.120.920, 1 hit
2.60.40.10, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001870, B30.2/SPRY
IPR043136, B30.2/SPRY_sf
IPR013320, ConA-like_dom_sf
IPR003961, FN3_dom
IPR036116, FN3_sf
IPR013783, Ig-like_fold

Pfam protein domain database

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Pfami
View protein in Pfam
PF00041, fn3, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00060, FN3, 2 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF49265, SSF49265, 1 hit
SSF49899, SSF49899, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50188, B302_SPRY, 1 hit
PS50853, FN3, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

Q8N3K9-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MASRDSNHAG ESFLGSDGDE EATRELETEE ESEGEEDETA AESEEEPDSR
60 70 80 90 100
LSDQDEEGKI KQEYIISDPS FSMVTVQRED SGITWETNSS RSSTPWASEE
110 120 130 140 150
SQTSGVCSRE GSTVNSPPGN VSFIVDEVKK VRKRTHKSKH GSPSLRRKGN
160 170 180 190 200
RKRNSFESQD VPTNKKGSPL TSASQVLTTE KEKSYTGIYD KARKKKTTSN
210 220 230 240 250
TPPITGAIYK EHKPLVLRPV YIGTVQYKIK MFNSVKEELI PLQFYGTLPK
260 270 280 290 300
GYVIKEIHYR KGKDASISLE PDLDNSGSNT VSKTRKLVAQ SIEDKVKEVF
310 320 330 340 350
PPWRGALSKG SESLTLMFSH EDQKKIYADS PLNATSALEH TVPSYSSSGR
360 370 380 390 400
AEQGIQLRHS QSVPQQPEDE AKPHEVEPPS VTPDTPATMF LRTTKEECEL
410 420 430 440 450
ASPGTAASEN DSSVSPSFAN EVKKEDVYSA HHSISLEAAS PGLAASTQDG
460 470 480 490 500
LDPDQEQPDL TSIERAEPVS AKLTPTHPSV KGEKEENMLE PSISLSEPLM
510 520 530 540 550
LEEPEKEEIE TSLPIAITPE PEDSNLVEEE IVELDYPESP LVSEKPFPPH
560 570 580 590 600
MSPEVEHKEE ELILPLLAAS SPEHVALSEE EREEIASVST GSAFVSEYSV
610 620 630 640 650
PQDLNHELQE QEGEPVPPSN VEAIAEHAVL SEEENEEFEA YSPAAAPTSE
660 670 680 690 700
SSLSPSTTEK TSENQSPLFS TVTPEYMVLS GDEASESGCY TPDSTSASEY
710 720 730 740 750
SVPSLATKES LKKTIDRKSP LILKGVSEYM IPSEEKEDTG SFTPAVAPAS
760 770 780 790 800
EPSLSPSTTE KTSECQSPLP STATSEHVVP SEGEDLGSER FTPDSKLISK
810 820 830 840 850
YAAPLNATQE SQKKIINEAS QFKPKGISEH TVLSVDGKEV IGPSSPDLVV
860 870 880 890 900
ASEHSFPPHT TEMTSECQAP PLSATPSEYV VLSDEEAVEL ERYTPSSTSA
910 920 930 940 950
SEFSVPPYAT PEAQEEEIVH RSLNLKGASS PMNLSEEDQE DIGPFSPDSA
960 970 980 990 1000
FVSEFSFPPY ATQEAEKREF ECDSPICLTS PSEHTILSDE DTEEAELFSP
1010 1020 1030 1040 1050
DSASQVSIPP FRISETEKNE LEPDSLLTAV SASGYSCFSE ADEEDIGSTA
1060 1070 1080 1090 1100
ATPVSEQFSS SQKQKAETFP LMSPLEDLSL PPSTDKSEKA EIKPEIPTTS
1110 1120 1130 1140 1150
TSVSEYLILA QKQKTQAYLE PESEDLIPSH LTSEVEKGER EASSSVAAIP
1160 1170 1180 1190 1200
AALPAQSSIV KEETKPASPH SVLPDSVPAI KKEQEPTAAL TLKAADEQMA
1210 1220 1230 1240 1250
LSKVRKEEIV PDSQEATAHV SQDQKMEPQP PNVPESEMKY SVLPDMVDEP
1260 1270 1280 1290 1300
KKGVKPKLVL NVTSELEQRK LSKNEPEVIK PYSPLKETSL SGPEALSAVK
1310 1320 1330 1340 1350
MEMKHDSKIT TTPIVLHSAS SGVEKQVEHG PPALAFSALS EEIKKEIEPS
1360 1370 1380 1390 1400
SSTTTASVTK LDSNLTRAVK EEIPTDSSLI TPVDRPVLTK VGKGELGSGL
1410 1420 1430 1440 1450
PPLVTSADEH SVLAEEDKVA IKGASPIETS SKHLAWSEAE KEIKFDSLPS
1460 1470 1480 1490 1500
VSSIAEHSVL SEVEAKEVKA GLPVIKTSSS QHSDKSEEAR VEDKQDLLFS
1510 1520 1530 1540 1550
TVCDSERLVS SQKKSLMSTS EVLEPEHELP LSLWGEIKKK ETELPSSQNV
1560 1570 1580 1590 1600
SPASKHIIPK GKDEETASSS PELENLASGL APTLLLLSDD KNKPAVEVSS
1610 1620 1630 1640 1650
TAQGDFPSEK QDVALAELSL EPEKKDKPHQ PLELPNAGSE FSSDLGRQSG
1660 1670 1680 1690 1700
SIGTKQAKSP ITETEDSVLE KGPAELRSRE GKEENRELCA SSTMPAISEL
1710 1720 1730 1740 1750
SSLLREESQN EEIKPFSPKI ISLESKEPPA SVAEGGNPEE FQPFTFSLKG
1760 1770 1780 1790 1800
LSEEVSHPAD FKKGGNQEIG PLPPTGNLKA QVMGDILDKL SEETGHPNSS
1810 1820 1830 1840 1850
QVLQSITEPS KIAPSDLLVE QKKTEKALHS DQTVKLPDVS TSSEDKQDLG
1860 1870 1880 1890 1900
IKQFSLMREN LPLEQSKSFM TTKPADVKET KMEEFFISPK DENWMLGKPE
1910 1920 1930 1940 1950
NVASQHEQRI AGSVQLDSSS SNELRPGQLK AAVSSKDHTC EVRKQVLPHS
1960 1970 1980 1990 2000
AEESHLSSQE AVSALDTSSG NTETLSSKSY SSEEVKLAEE PKSLVLAGNV
2010 2020 2030 2040 2050
ERNIAEGKEI HSLMESESLL LEKANTELSW PSKEDSQEKI KLPPERFFQK
2060 2070 2080 2090 2100
PVSGLSVEQV KSETISSSVK TAHFPAEGVE PALGNEKEAH RSTPPFPEEK
2110 2120 2130 2140 2150
PLEESKMVQS KVIDDADEGK KPSPEVKIPT QRKPISSIHA REPQSPESPE
2160 2170 2180 2190 2200
VTQNPPTQPK VAKPDLPEEK GKKGISSFKS WMSSLFFGSS TPDNKVAEQE
2210 2220 2230 2240 2250
DLETQPSPSV EKAVTVIDPE GTIPTNFNVA EKPADHSLSE VKLKTADEPR
2260 2270 2280 2290 2300
GTLVKSGDGQ NVKEKSMILS NVEDLQQPKF ISEVSREDYG KKEISGDSEE
2310 2320 2330 2340 2350
MNINSVVTSA DGENLEIQSY SLIGEKLVME EAKTIVPPHV TDSKRVQKPA
2360 2370 2380 2390 2400
IAPPSKWNIS IFKEEPRSDQ KQKSLLSFDV VDKVPQQPKS ASSNFASKNI
2410 2420 2430 2440 2450
TKESEKPESI ILPVEESKGS LIDFSEDRLK KEMQNPTSLK ISEEETKLRS
2460 2470 2480 2490 2500
VSPTEKKDNL ENRSYTLAEK KVLAEKQNSV APLELRDSNE IGKTQITLGS
2510 2520 2530 2540 2550
RSTELKESKA DAMPQHFYQN EDYNERPKII VGSEKEKGEE KENQVYVLSE
2560 2570 2580 2590 2600
GKKQQEHQPY SVNVAESMSR ESDISLGHSL GETQSFSLVK ATSVTEKSEA
2610 2620 2630 2640 2650
MLAEAHPEIR EAKAVGTQPH PLEESKVLVE KTKTFLPVAL SCRDEIENHS
2660 2670 2680 2690 2700
LSQEGNLVLE KSSRDMPDHS EEKEQFRESE LSKGGSVDIT KETVKQGFQE
2710 2720 2730 2740 2750
KAVGTQPRPL EESKVLVEKT KTFLPVVLSC HDEIENHSLS QEGNLVLEKS
2760 2770 2780 2790 2800
SRDMPDHSEE KEQFKESELW KGGSVDITKE SMKEGFPSKE SERTLARPFD
2810 2820 2830 2840 2850
ETKSSETPPY LLSPVKPQTL ASGASPEINA VKKKEMPRSE LTPERHTVHT
2860 2870 2880 2890 2900
IQTSKDDTSD VPKQSVLVSK HHLEAAEDTR VKEPLSSAKS NYAQFISNTS
2910 2920 2930 2940 2950
ASNADKMVSN KEMPKEPEDT YAKGEDFTVT SKPAGLSEDQ KTAFSIISEG
2960 2970 2980 2990 3000
CEILNIHAPA FISSIDQEES EQMQDKLEYL EEKASFKTIP LPDDSETVAC
3010 3020 3030 3040 3050
HKTLKSRLED EKVTPLKENK QKETHKTKEE ISTDSETDLS FIQPTIPSEE
3060 3070 3080 3090 3100
DYFEKYTLID YNISPDPEKQ KAPQKLNVEE KLSKEVTEET ISFPVSSVES
3110 3120 3130 3140 3150
ALEHEYDLVK LDESFYGPEK GHNILSHPET QSQNSADRNV SKDTKRDVDS
3160 3170 3180 3190 3200
KSPGMPLFEA EEGVLSRTQI FPTTIKVIDP EFLEEPPALA FLYKDLYEEA
3210 3220 3230 3240 3250
VGEKKKEEET ASEGDSVNSE ASFPSRNSDT DDGTGIYFEK YILKDDILHD
3260 3270 3280 3290 3300
TSLTQKDQGQ GLEEKRVGKD DSYQPIAAEG EIWGKFGTIC REKSLEEQKG
3310 3320 3330 3340 3350
VYGEGESVDH VETVGNVAMQ KKAPITEDVR VATQKISYAV PFEDTHHVLE
3360 3370 3380 3390 3400
RADEAGSHGN EVGNASPEVN LNVPVQVSFP EEEFASGATH VQETSLEEPK
3410 3420 3430 3440 3450
ILVPPEPSEE RLRNSPVQDE YEFTESLHNE VVPQDILSEE LSSESTPEDV
3460 3470 3480 3490 3500
LSQGKESFEH ISENEFASEA EQSTPAEQKE LGSERKEEDQ LSSEVVTEKA
3510 3520 3530 3540 3550
QKELKKSQID TYCYTCKCPI SATDKVFGTH KDHEVSTLDT AISAVKVQLA
3560 3570 3580 3590 3600
EFLENLQEKS LRIEAFVSEI ESFFNTIEEN CSKNEKRLEE QNEEMMKKVL
3610 3620 3630 3640 3650
AQYDEKAQSF EEVKKKKMEF LHEQMVHFLQ SMDTAKDTLE TIVREAEELD
3660 3670 3680 3690 3700
EAVFLTSFEE INERLLSAME STASLEKMPA AFSLFEHYDD SSARSDQMLK
3710 3720 3730 3740 3750
QVAVPQPPRL EPQEPNSATS TTIAVYWSMN KEDVIDSFQV YCMEEPQDDQ
3760 3770 3780 3790 3800
EVNELVEEYR LTVKESYCIF EDLEPDRCYQ VWVMAVNFTG CSLPSERAIF
3810 3820 3830 3840 3850
RTAPSTPVIR AEDCTVCWNT ATIRWRPTTP EATETYTLEY CRQHSPEGEG
3860 3870 3880 3890 3900
LRSFSGIKGL QLKVNLQPND NYFFYVRAIN AFGTSEQSEA ALISTRGTRF
3910 3920 3930 3940 3950
LLLRETAHPA LHISSSGTVI SFGERRRLTE IPSVLGEELP SCGQHYWETT
3960 3970 3980 3990 4000
VTDCPAYRLG ICSSSAVQAG ALGQGETSWY MHCSEPQRYT FFYSGIVSDV
4010 4020 4030 4040 4050
HVTERPARVG ILLDYNNQRL IFINAESEQL LFIIRHRFNE GVHPAFALEK
4060
PGKCTLHLGI EPPDSVRHK
Length:4,069
Mass (Da):449,211
Last modified:April 8, 2008 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF5A25F1C53640EB8
GO

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAD55265 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAH20856 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAH22422 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAH62664 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAH63134 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence AAI11530 differs from that shown. Reason: Erroneous termination. Truncated C-terminus.Curated
The sequence AAQ09018 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence CAH10406 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti79E → D in CAH10406 (PubMed:17974005).Curated1
Sequence conflicti445A → V in CAH10406 (PubMed:17974005).Curated1
Sequence conflicti616V → I in CAH10402 (PubMed:17974005).Curated1
Sequence conflicti654S → L in CAH10406 (PubMed:17974005).Curated1
Sequence conflicti924N → D in CAH10402 (PubMed:17974005).Curated1
Sequence conflicti995A → T in CAH10406 (PubMed:17974005).Curated1
Sequence conflicti1283S → P in CAH10406 (PubMed:17974005).Curated1
Sequence conflicti1606F → L in CAH10406 (PubMed:17974005).Curated1
Sequence conflicti1681G → E in CAH10406 (PubMed:17974005).Curated1
Sequence conflicti1855S → G in AAH63134 (PubMed:15489334).Curated1
Sequence conflicti2038E → K in AAH63134 (PubMed:15489334).Curated1
Sequence conflicti2148S → A in AAD55265 (PubMed:11297942).Curated1
Sequence conflicti2538G → D in AAD55265 (PubMed:11297942).Curated1
Sequence conflicti2782 – 2784MKE → TKD in CAD38607 (PubMed:17974005).Curated3
Sequence conflicti2788S → P in CAD38928 (PubMed:17974005).Curated1
Sequence conflicti2933P → L in CAD38607 (PubMed:17974005).Curated1
Sequence conflicti3073 – 3113PQKLN…VKLDE → SFKTIPLPDDSETVACHKTL KSRLEDEKVTPLKENKQKET Q in AAH62664 (PubMed:15489334).CuratedAdd BLAST41
Sequence conflicti3131Q → L in AAQ09018 (Ref. 6) Curated1
Sequence conflicti3291R → W in CAD91143 (PubMed:17974005).Curated1
Sequence conflicti3321K → R in CAD91143 (PubMed:17974005).Curated1
Sequence conflicti3331V → A in CAD91158 (PubMed:17974005).Curated1
Sequence conflicti3348V → A in CAD91158 (PubMed:17974005).Curated1
Sequence conflicti3361E → G in CAD91158 (PubMed:17974005).Curated1
Sequence conflicti3803 – 3822APSTP…WNTAT → GKEMDAKGALEDNAQFFTDS in CAD91143 (PubMed:17974005).CuratedAdd BLAST20
Sequence conflicti3852R → S in CAD91158 (PubMed:17974005).Curated1
Sequence conflicti3880N → S in CAD91158 (PubMed:17974005).Curated1
Sequence conflicti3929T → A in CAD91158 (PubMed:17974005).Curated1
Sequence conflicti3948E → K in CAD91158 (PubMed:17974005).Curated1
Sequence conflicti4050K → E in CAD38607 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_04247164Y → C. Corresponds to variant dbSNP:rs16877109Ensembl.1
Natural variantiVAR_042472175Q → H. Corresponds to variant dbSNP:rs6895605EnsemblClinVar.1
Natural variantiVAR_042473190D → G1 PublicationCorresponds to variant dbSNP:rs10942901Ensembl.1
Natural variantiVAR_042474349G → D. Corresponds to variant dbSNP:rs1366271Ensembl.1
Natural variantiVAR_042475591G → D. Corresponds to variant dbSNP:rs16877124Ensembl.1
Natural variantiVAR_061611651S → R. Corresponds to variant dbSNP:rs57544556Ensembl.1
Natural variantiVAR_0424761006V → A. Corresponds to variant dbSNP:rs6893869Ensembl.1
Natural variantiVAR_0424771295A → V1 PublicationCorresponds to variant dbSNP:rs4704585Ensembl.1
Natural variantiVAR_0424781309I → V. Corresponds to variant dbSNP:rs16877133Ensembl.1
Natural variantiVAR_0424791333A → V. Corresponds to variant dbSNP:rs16877135Ensembl.1
Natural variantiVAR_0424801380I → V. Corresponds to variant dbSNP:rs13158477Ensembl.1
Natural variantiVAR_0424811567A → E. Corresponds to variant dbSNP:rs1428223Ensembl.1
Natural variantiVAR_0424821599S → A. Corresponds to variant dbSNP:rs1428224Ensembl.1
Natural variantiVAR_0424831669L → S. Corresponds to variant dbSNP:rs1019762Ensembl.1
Natural variantiVAR_0424841713I → N. Corresponds to variant dbSNP:rs16877141Ensembl.1
Natural variantiVAR_0424851721I → V. Corresponds to variant dbSNP:rs1428225Ensembl.1
Natural variantiVAR_0424861875A → V. Corresponds to variant dbSNP:rs16877147Ensembl.1
Natural variantiVAR_0424871917D → G. Corresponds to variant dbSNP:rs16877150Ensembl.1
Natural variantiVAR_0424881920S → G1 PublicationCorresponds to variant dbSNP:rs16877151Ensembl.1
Natural variantiVAR_0424892262V → L1 PublicationCorresponds to variant dbSNP:rs6859595Ensembl.1
Natural variantiVAR_0424902383K → E. Corresponds to variant dbSNP:rs7721884EnsemblClinVar.1
Natural variantiVAR_0424912693T → I. Corresponds to variant dbSNP:rs28362541Ensembl.1
Natural variantiVAR_0424922906K → N. Corresponds to variant dbSNP:rs2278239Ensembl.1
Natural variantiVAR_0424932935G → R. Corresponds to variant dbSNP:rs2278240Ensembl.1
Natural variantiVAR_0424943358H → Q1 PublicationCorresponds to variant dbSNP:rs3828611Ensembl.1
Natural variantiVAR_0424953583K → E2 PublicationsCorresponds to variant dbSNP:rs12514461Ensembl.1
Natural variantiVAR_0424963927R → Q2 PublicationsCorresponds to variant dbSNP:rs1129770Ensembl.1
Natural variantiVAR_0424974063P → L1 PublicationCorresponds to variant dbSNP:rs10043986Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AC008482 Genomic DNA No translation available.
AC109488 Genomic DNA No translation available.
AC008496 Genomic DNA No translation available.
AL831966 mRNA Translation: CAD38607.1
AL831968 mRNA Translation: CAD38609.2
AL831986 mRNA Translation: CAD91143.1
AL832347 mRNA Translation: CAH10406.1 Sequence problems.
AL832368 mRNA Translation: CAD91158.1
AL832376 mRNA Translation: CAH10402.1
AL834252 mRNA Translation: CAD38928.2
BC020856 mRNA Translation: AAH20856.1 Sequence problems.
BC022422 mRNA Translation: AAH22422.1 Sequence problems.
BC062664 mRNA Translation: AAH62664.1 Sequence problems.
BC063134 mRNA Translation: AAH63134.1 Sequence problems.
BC111529 mRNA Translation: AAI11530.1 Sequence problems.
BC111530 mRNA Translation: AAI11531.1
AK092699 mRNA No translation available.
AF177292 mRNA Translation: AAD55265.1 Sequence problems.
AF533705 mRNA Translation: AAQ09018.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS47238.1

NCBI Reference Sequences

More...
RefSeqi
NP_705838.3, NM_153610.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000446378; ENSP00000394770; ENSG00000164309

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
202333

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:202333

UCSC genome browser

More...
UCSCi
uc003kgc.4, human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC008482 Genomic DNA No translation available.
AC109488 Genomic DNA No translation available.
AC008496 Genomic DNA No translation available.
AL831966 mRNA Translation: CAD38607.1
AL831968 mRNA Translation: CAD38609.2
AL831986 mRNA Translation: CAD91143.1
AL832347 mRNA Translation: CAH10406.1 Sequence problems.
AL832368 mRNA Translation: CAD91158.1
AL832376 mRNA Translation: CAH10402.1
AL834252 mRNA Translation: CAD38928.2
BC020856 mRNA Translation: AAH20856.1 Sequence problems.
BC022422 mRNA Translation: AAH22422.1 Sequence problems.
BC062664 mRNA Translation: AAH62664.1 Sequence problems.
BC063134 mRNA Translation: AAH63134.1 Sequence problems.
BC111529 mRNA Translation: AAI11530.1 Sequence problems.
BC111530 mRNA Translation: AAI11531.1
AK092699 mRNA No translation available.
AF177292 mRNA Translation: AAD55265.1 Sequence problems.
AF533705 mRNA Translation: AAQ09018.1 Different initiation.
CCDSiCCDS47238.1
RefSeqiNP_705838.3, NM_153610.4

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi128427, 16 interactors
IntActiQ8N3K9, 13 interactors
MINTiQ8N3K9
STRINGi9606.ENSP00000394770

PTM databases

iPTMnetiQ8N3K9
PhosphoSitePlusiQ8N3K9

Genetic variation databases

BioMutaiCMYA5
DMDMi182627649

Proteomic databases

EPDiQ8N3K9
jPOSTiQ8N3K9
MassIVEiQ8N3K9
MaxQBiQ8N3K9
PaxDbiQ8N3K9
PeptideAtlasiQ8N3K9
PRIDEiQ8N3K9
ProteomicsDBi71818

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
24574, 34 antibodies

Genome annotation databases

EnsembliENST00000446378; ENSP00000394770; ENSG00000164309
GeneIDi202333
KEGGihsa:202333
UCSCiuc003kgc.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
202333
DisGeNETi202333

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CMYA5
HGNCiHGNC:14305, CMYA5
HPAiENSG00000164309, Group enriched (heart muscle, skeletal muscle)
MIMi612193, gene
neXtProtiNX_Q8N3K9
OpenTargetsiENSG00000164309
PharmGKBiPA37868
VEuPathDBiHostDB:ENSG00000164309.14

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2177, Eukaryota
GeneTreeiENSGT00940000159696
HOGENOMiCLU_000269_0_0_1
InParanoidiQ8N3K9
OMAiWMLEKPE
OrthoDBi22778at2759
PhylomeDBiQ8N3K9
TreeFamiTF331281

Enzyme and pathway databases

PathwayCommonsiQ8N3K9

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
202333, 11 hits in 873 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
CMYA5, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
202333
PharosiQ8N3K9, Tbio

Protein Ontology

More...
PROi
PR:Q8N3K9
RNActiQ8N3K9, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000164309, Expressed in quadriceps femoris and 183 other tissues
GenevisibleiQ8N3K9, HS

Family and domain databases

CDDicd00063, FN3, 2 hits
Gene3Di2.60.120.920, 1 hit
2.60.40.10, 2 hits
InterProiView protein in InterPro
IPR001870, B30.2/SPRY
IPR043136, B30.2/SPRY_sf
IPR013320, ConA-like_dom_sf
IPR003961, FN3_dom
IPR036116, FN3_sf
IPR013783, Ig-like_fold
PfamiView protein in Pfam
PF00041, fn3, 1 hit
SMARTiView protein in SMART
SM00060, FN3, 2 hits
SUPFAMiSSF49265, SSF49265, 1 hit
SSF49899, SSF49899, 1 hit
PROSITEiView protein in PROSITE
PS50188, B302_SPRY, 1 hit
PS50853, FN3, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCMYA5_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8N3K9
Secondary accession number(s): A0PJB7
, Q05CT4, Q2NKX1, Q2T9G9, Q69YQ8, Q69YQ9, Q6P517, Q6P5U3, Q7Z4I1, Q86T34, Q86T49, Q8N3S4, Q8N3S7, Q8NAG8, Q9UK88
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: April 8, 2008
Last modified: February 10, 2021
This is version 147 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human entries with genetic variants
    List of human entries with genetic variants
  2. Human variants curated from literature reports
    Index of human variants curated from literature reports
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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