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Entry version 143 (10 Feb 2021)
Sequence version 1 (01 Nov 1996)
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Protein

Putative nucleotidyltransferase MAB21L1

Gene

MAB21L1

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

Putative nucleotidyltransferase required for several aspects of embryonic development including normal development of the eye (PubMed:27103078, PubMed:30487245). It is unclear whether it displays nucleotidyltransferase activity in vivo (PubMed:27271801). Binds single-stranded RNA (ssRNA) (PubMed:27271801).3 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi73Magnesium; catalyticBy similarity1
Metal bindingi75Magnesium; catalyticBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei248NTPCombined sources1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi23 – 24NTPCombined sources1 Publication2
Nucleotide bindingi63 – 66NTPCombined sources1 Publication4
Nucleotide bindingi252 – 255NTPCombined sources1 Publication4

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<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>Keywordsi

Molecular functionDevelopmental protein, Nucleotidyltransferase, Transferase
LigandATP-binding, GTP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q13394

<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:
Putative nucleotidyltransferase MAB21L1Curated (EC:2.7.7.-Curated)
Alternative name(s):
Protein mab-21-like 1Imported
<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:MAB21L1Imported
Synonyms:CAGR11 Publication
ORF Names:Nbla001261 Publication
<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 13

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:6757, MAB21L1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601280, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q13394

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000180660.7

<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

Keywords - Cellular componenti

Nucleus

<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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Cerebellar, ocular, craniofacial, and genital syndrome (COFG)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome characterized by moderate to severe developmental delay, intellectual disability, cerebellar hypoplasia with ataxia, variable microcephaly, ophthalmological anomalies, facial dysmorphism, absent or underdeveloped nipples, underdeveloped labioscrotal folds and scrotal agenesis.
Related information in OMIM
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_082959233Q → P in COFG; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1566189161EnsemblClinVar.1
Natural variantiVAR_082960280 – 359Missing in COFG. 1 PublicationAdd BLAST80

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi51R → C: Decreased protein stability. 1 Publication1
Mutagenesisi247R → Q: Decreased protein stability. 1 Publication1

Keywords - Diseasei

Disease variant, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
4081

MalaCards human disease database

More...
MalaCardsi
MAB21L1
MIMi618479, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000180660

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30516

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q13394, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MAB21L1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74739786

<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_00003127811 – 359Putative nucleotidyltransferase MAB21L1Add BLAST359

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q13394

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

More...
PaxDbi
Q13394

PeptideAtlas

More...
PeptideAtlasi
Q13394

PRoteomics IDEntifications database

More...
PRIDEi
Q13394

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
59364

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
Q13394

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q13394

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

More...
PhosphoSitePlusi
Q13394

<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 brain, cerebellum and skeletal muscle.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000180660, Expressed in pigmented layer of retina and 142 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q13394, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q13394, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000180660, Tissue enhanced (brain, 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

Monomer (PubMed:27271801). Homodecamer; composed of 2 back to back homopentamers (PubMed:27271801). The protein may exist as monomer in solution and oiligomerizes upon ligand binding (PubMed:27271801).

1 Publication

<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)

More...
BioGRIDi
110256, 12 interactors

Protein interaction database and analysis system

More...
IntActi
Q13394, 11 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000369251

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q13394, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1359
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q13394

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<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

<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

While it shares structure similarities with CGAS, it also features a number of differences. The crystal structure is in inactive conformation and the enzyme would require a conformational change to be active. The nucleotidyltransferase activity is therefore unclear.1 Publication

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the mab-21 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3963, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00980000198515

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_045315_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q13394

Identification of Orthologs from Complete Genome Data

More...
OMAi
YFLPHVD

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q13394

TreeFam database of animal gene trees

More...
TreeFami
TF315012

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR024810, Mab-21_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF03281, Mab-21, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01265, Mab-21, 1 hit

<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.

Q13394-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MIAAQAKLVY HLNKYYNEKC QARKAAIAKT IREVCKVVSD VLKEVEVQEP
60 70 80 90 100
RFISSLNEMD NRYEGLEVIS PTEFEVVLYL NQMGVFNFVD DGSLPGCAVL
110 120 130 140 150
KLSDGRKRSM SLWVEFITAS GYLSARKIRS RFQTLVAQAV DKCSYRDVVK
160 170 180 190 200
MVADTSEVKL RIRDRYVVQI TPAFKCTGIW PRSAAHWPLP HIPWPGPNRV
210 220 230 240 250
AEVKAEGFNL LSKECHSLAG KQSSAESDAW VLQFAEAENR LQMGGCRKKC
260 270 280 290 300
LSILKTLRDR HLELPGQPLN NYHMKTLVSY ECEKHPRESD WDESCLGDRL
310 320 330 340 350
NGILLQLISC LQCRRCPHYF LPNLDLFQGK PHSALENAAK QTWRLAREIL

TNPKSLEKL
Length:359
Mass (Da):40,956
Last modified:November 1, 1996 - v1
<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:iA27C53FBC997A049
GO

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 conflicti132F → L in CAG33701 (Ref. 3) Curated1

<p>This subsection of the 'Sequence' section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement%5Fin%5Fdisease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

A CAG trinucleotide repeat occurs in the 5'-UTR of this gene. This repeat has been found to be highly polymorphic, although expanded alleles have not yet been definitely linked with any phenotypic abnormality.4 Publications

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03756870S → P. Corresponds to variant dbSNP:rs1065316Ensembl.1
Natural variantiVAR_082959233Q → P in COFG; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1566189161EnsemblClinVar.1
Natural variantiVAR_082960280 – 359Missing in COFG. 1 PublicationAdd BLAST80

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
U38810 mRNA Translation: AAB47576.1
AB073388 mRNA Translation: BAE45718.1
CR457420 mRNA Translation: CAG33701.1
AL390071 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08547.1
BC028170 mRNA Translation: AAH28170.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS9353.1

Protein sequence database of the Protein Information Resource

More...
PIRi
G02221

NCBI Reference Sequences

More...
RefSeqi
NP_005575.1, NM_005584.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000379919; ENSP00000369251; ENSG00000180660

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
4081

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:4081

UCSC genome browser

More...
UCSCi
uc032aca.2, 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
U38810 mRNA Translation: AAB47576.1
AB073388 mRNA Translation: BAE45718.1
CR457420 mRNA Translation: CAG33701.1
AL390071 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08547.1
BC028170 mRNA Translation: AAH28170.1
CCDSiCCDS9353.1
PIRiG02221
RefSeqiNP_005575.1, NM_005584.4

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5EOGX-ray3.05A/B/C/D/F2-359[»]
5EOMX-ray2.55A/B/C/D/E/F/G/H/I/J2-359[»]
SMRiQ13394
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi110256, 12 interactors
IntActiQ13394, 11 interactors
STRINGi9606.ENSP00000369251

PTM databases

iPTMnetiQ13394
PhosphoSitePlusiQ13394

Genetic variation databases

BioMutaiMAB21L1
DMDMi74739786

Proteomic databases

MassIVEiQ13394
PaxDbiQ13394
PeptideAtlasiQ13394
PRIDEiQ13394
ProteomicsDBi59364
TopDownProteomicsiQ13394

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
23045, 64 antibodies

The DNASU plasmid repository

More...
DNASUi
4081

Genome annotation databases

EnsembliENST00000379919; ENSP00000369251; ENSG00000180660
GeneIDi4081
KEGGihsa:4081
UCSCiuc032aca.2, human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
4081
DisGeNETi4081

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MAB21L1
HGNCiHGNC:6757, MAB21L1
HPAiENSG00000180660, Tissue enhanced (brain, skeletal muscle)
MalaCardsiMAB21L1
MIMi601280, gene
618479, phenotype
neXtProtiNX_Q13394
OpenTargetsiENSG00000180660
PharmGKBiPA30516
VEuPathDBiHostDB:ENSG00000180660.7

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3963, Eukaryota
GeneTreeiENSGT00980000198515
HOGENOMiCLU_045315_0_0_1
InParanoidiQ13394
OMAiYFLPHVD
PhylomeDBiQ13394
TreeFamiTF315012

Enzyme and pathway databases

PathwayCommonsiQ13394

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
4081, 7 hits in 877 CRISPR screens

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

More...
ChiTaRSi
MAB21L1, human

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

More...
GenomeRNAii
4081
PharosiQ13394, Tbio

Protein Ontology

More...
PROi
PR:Q13394
RNActiQ13394, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000180660, Expressed in pigmented layer of retina and 142 other tissues
ExpressionAtlasiQ13394, baseline and differential
GenevisibleiQ13394, HS

Family and domain databases

InterProiView protein in InterPro
IPR024810, Mab-21_dom
PfamiView protein in Pfam
PF03281, Mab-21, 1 hit
SMARTiView protein in SMART
SM01265, Mab-21, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiMB211_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: Q13394
Secondary accession number(s): Q6I9T5
<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: December 4, 2007
Last sequence update: November 1, 1996
Last modified: February 10, 2021
This is version 143 of the entry and version 1 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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