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Entry version 117 (10 Feb 2021)
Sequence version 2 (15 Nov 2002)
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Protein

Down syndrome critical region protein 8

Gene

DSCR8

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

Annotation score:3 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

Miscellaneous

Potential cancer-testis antigen, with expression restricted to the testis and certain malignant cells.1 Publication

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q96T75

<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:
Down syndrome critical region protein 81 Publication
Alternative name(s):
Cancer/testis antigen 25
Short name:
CT25
DCR1-24.01 Publication
Malignant melanoma-associated protein 12 Publications
Short name:
MMA-12 Publications
Protein MTAG2
<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:DSCR8Imported
Synonyms:C21orf65Imported, MTAG2
<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: Unplaced

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:16707, DSCR8

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
613396, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96T75

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000198054.11

<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

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96T75, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DSCR8

<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_00000800211 – 97Down syndrome critical region protein 8Add BLAST97

Proteomic databases

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

More...
PaxDbi
Q96T75

PRoteomics IDEntifications database

More...
PRIDEi
Q96T75

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
78206 [Q96T75-1]
78207 [Q96T75-2]
78208 [Q96T75-3]
78209 [Q96T75-4]

<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 numerous tissues; not found in breast, heart, small intestine and liver (PubMed:12036297). Isoform 1: Predominantly expressed in the testis (PubMed:11920614, PubMed:15472897). Isoform 3: Predominantly expressed in the testis, at lower level in the placenta, during malignant progression of melanocytic tumors and in several tumors of varying origins (PubMed:11920614, PubMed:15472897). Isoform 4: Predominantly expressed in the testis, at lower level in the placenta, during malignant progression of melanocytic tumors and in several tumors of varying origins (PubMed:11920614, PubMed:15472897). Isoform 5: Predominantly expressed in the testis (PubMed:11920614, PubMed:15472897). Isoform 6: Predominantly expressed in the testis (PubMed:11920614, PubMed:15472897).3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000198054, Expressed in testis and 99 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96T75, HS

<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 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

Hide details

Protein-protein interaction databases

Protein interaction database and analysis system

More...
IntActi
Q96T75, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000350336

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q96T75, 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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502TAQZ, Eukaryota

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_187806_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96T75

Identification of Orthologs from Complete Genome Data

More...
OMAi
PRLECRD

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96T75

TreeFam database of animal gene trees

More...
TreeFami
TF341571

<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>Sequences (6)i

<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.

This entry describes 6 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q96T75-1) [UniParc]FASTAAdd to basket
Also known as: MTAG5, MMA1C1 Publication

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MKEPGPNFVT VRKGLHSFKM AFVKHLLLFL SPRLECSGSI TDHCSLHLPV
60 70 80 90
QEILMSQPPE QLGLQTNLGN QESSGMMKLF MPRPKVLAQY ESIQFMP
Note: Predominantly expressed in the testis.2 Publications
Length:97
Mass (Da):10,969
Last modified:November 15, 2002 - v2
<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:i6A59E035E03285C4
GO
Isoform 2 (identifier: Q96T75-2) [UniParc]FASTAAdd to basket
Also known as: MTAG6, MMA1F1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1-27: Missing.
     28-32: LFLSP → MYSYW

Show »
Length:70
Mass (Da):8,047
Checksum:i1F2875EA766C8CD4
GO
Isoform 3 (identifier: Q96T75-3) [UniParc]FASTAAdd to basket
Also known as: MMA-1a, MMA1A1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     28-33: Missing.

Note: Predominantly expressed in the testis, at lower level in the placenta, during malignant progression of melanocytic tumors and in several tumors of varying origins.2 Publications
Show »
Length:91
Mass (Da):10,255
Checksum:iAC84744C11F79565
GO
Isoform 4 (identifier: Q96T75-4) [UniParc]FASTAAdd to basket
Also known as: MMA-1b, MMA1B1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     28-37: LFLSPRLECS → QTLEIKKVLE
     38-97: Missing.

Note: Predominantly expressed in the testis, at lower level in the placenta, during malignant progression of melanocytic tumors and in several tumors of varying origins.2 Publications
Show »
Length:37
Mass (Da):4,295
Checksum:i9F1AFC3C95D21731
GO
Isoform 5 (identifier: Q96T75-5) [UniParc]FASTAAdd to basket
Also known as: MMA1D1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1-54: Missing.

Note: Predominantly expressed in the testis.2 Publications
Show »
Length:43
Mass (Da):4,884
Checksum:iE315C5D64DF14B03
GO
Isoform 6 (identifier: Q96T75-6) [UniParc]FASTAAdd to basket
Also known as: MMA1E1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1-65: MKEPGPNFVT...SQPPEQLGLQ → MHNIMMVKLKKKKST

Note: Predominantly expressed in the testis.2 Publications
Show »
Length:47
Mass (Da):5,474
Checksum:i7D9753BE72092C0D
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0590661 – 65MKEPG…QLGLQ → MHNIMMVKLKKKKST in isoform 6. Add BLAST65
Alternative sequenceiVSP_0590671 – 54Missing in isoform 5. Add BLAST54
Alternative sequenceiVSP_0038561 – 27Missing in isoform 2. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_00385928 – 37LFLSPRLECS → QTLEIKKVLE in isoform 4. 2 Publications10
Alternative sequenceiVSP_00385828 – 33Missing in isoform 3. 3 Publications6
Alternative sequenceiVSP_00385728 – 32LFLSP → MYSYW in isoform 2. 1 Publication5
Alternative sequenceiVSP_00386038 – 97Missing in isoform 4. 2 PublicationsAdd BLAST60

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
AJ297914 mRNA Translation: CAC82786.1
AJ306840 mRNA Translation: CAC84765.1
AJ306839 mRNA Translation: CAC84766.1
AJ301615 mRNA Translation: CAD29791.1
AF321193 mRNA Translation: AAK52673.1
AF426256 mRNA Translation: AAM53512.1
AJ783421 mRNA Translation: CAH03845.1
AJ305085 mRNA Translation: CAH03994.1
CH471079 Genomic DNA Translation: EAX09690.1
AP001417 Genomic DNA No translation available.
BC015981 mRNA No translation available.

Genome annotation databases

UCSC genome browser

More...
UCSCi
uc062abe.1, human [Q96T75-1]

<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 - Coding sequence diversityi

Alternative splicing

<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
AJ297914 mRNA Translation: CAC82786.1
AJ306840 mRNA Translation: CAC84765.1
AJ306839 mRNA Translation: CAC84766.1
AJ301615 mRNA Translation: CAD29791.1
AF321193 mRNA Translation: AAK52673.1
AF426256 mRNA Translation: AAM53512.1
AJ783421 mRNA Translation: CAH03845.1
AJ305085 mRNA Translation: CAH03994.1
CH471079 Genomic DNA Translation: EAX09690.1
AP001417 Genomic DNA No translation available.
BC015981 mRNA No translation available.

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

IntActiQ96T75, 2 interactors
STRINGi9606.ENSP00000350336

Genetic variation databases

BioMutaiDSCR8

Proteomic databases

PaxDbiQ96T75
PRIDEiQ96T75
ProteomicsDBi78206 [Q96T75-1]
78207 [Q96T75-2]
78208 [Q96T75-3]
78209 [Q96T75-4]

Genome annotation databases

UCSCiuc062abe.1, human [Q96T75-1]

Organism-specific databases

GeneCards: human genes, protein and diseases

More...
GeneCardsi
DSCR8
HGNCiHGNC:16707, DSCR8
MIMi613396, gene
neXtProtiNX_Q96T75
VEuPathDBiHostDB:ENSG00000198054.11

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502TAQZ, Eukaryota
HOGENOMiCLU_187806_0_0_1
InParanoidiQ96T75
OMAiPRLECRD
PhylomeDBiQ96T75
TreeFamiTF341571

Enzyme and pathway databases

PathwayCommonsiQ96T75

Miscellaneous databases

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

More...
ChiTaRSi
DSCR8, human
PharosiQ96T75, Tdark

Protein Ontology

More...
PROi
PR:Q96T75
RNActiQ96T75, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000198054, Expressed in testis and 99 other tissues
GenevisibleiQ96T75, HS

Family and domain databases

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 nameiDSCR8_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: Q96T75
Secondary accession number(s): Q684H4
, Q6EXA9, Q8N3X0, Q8NDY5, Q96B46
<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: October 10, 2002
Last sequence update: November 15, 2002
Last modified: February 10, 2021
This is version 117 of the entry and version 2 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 chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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