UniProtKB - Q13394 (MB211_HUMAN)

BLAST

>sp|Q13394|MB211_HUMAN Putative nucleotidyltransferase MAB21L1 OS=Homo sapiens OX=9606 GN=MAB21L1 PE=1 SV=1
MIAAQAKLVYHLNKYYNEKCQARKAAIAKTIREVCKVVSDVLKEVEVQEPRFISSLNEMD
NRYEGLEVISPTEFEVVLYLNQMGVFNFVDDGSLPGCAVLKLSDGRKRSMSLWVEFITAS
GYLSARKIRSRFQTLVAQAVDKCSYRDVVKMVADTSEVKLRIRDRYVVQITPAFKCTGIW
PRSAAHWPLPHIPWPGPNRVAEVKAEGFNLLSKECHSLAGKQSSAESDAWVLQFAEAENR
LQMGGCRKKCLSILKTLRDRHLELPGQPLNNYHMKTLVSYECEKHPRESDWDESCLGDRL
NGILLQLISCLQCRRCPHYFLPNLDLFQGKPHSALENAAKQTWRLAREILTNPKSLEKL

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History
Entry version 127 (12 Sep 2018)
Sequence version 1 (01 Nov 1996)
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Protein

Putative nucleotidyltransferase MAB21L1

Gene

MAB21L1

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

Functionⁱ

Putative nucleotidyltransferase required for several aspects of embryonic development including normal development of the eye (By similarity). It is unclear whether it displays nucleotidyltransferase activity in vivo (PubMed:27271801). Binds single-stranded RNA (ssRNA) (PubMed:27271801).By similarity1 Publication

Sites

Feature key	Position(s)	DescriptionActions	Length
Metal bindingⁱ	73	Magnesium; catalyticBy similarity	1
Metal bindingⁱ	75	Magnesium; catalyticBy similarity	1
Binding siteⁱ	248	NTPCombined sources1 Publication	1

Regions

Feature key	Position(s)	DescriptionActions	Length
Nucleotide bindingⁱ	23 – 24	NTPCombined sources1 Publication	2
Nucleotide bindingⁱ	63 – 66	NTPCombined sources1 Publication	4
Nucleotide bindingⁱ	252 – 255	NTPCombined sources1 Publication	4

GO - Molecular functionⁱ

ATP binding Source: UniProtKB-KW
GTP binding Source: UniProtKB-KW
metal ion binding Source: UniProtKB-KW
nucleotidyltransferase activity Source: UniProtKB-KW

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

anatomical structure morphogenesis
Source: ProtInc
Traceable author statementⁱ
- 8733127
camera-type eye development Source: Ensembl
positive regulation of cell proliferation Source: Ensembl

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Developmental protein, Nucleotidyltransferase, Transferase
Ligand	ATP-binding, GTP-binding, Metal-binding, Nucleotide-binding

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Putative nucleotidyltransferase MAB21L1Curated (EC:2.7.7.-Curated) Alternative name(s): Protein mab-21-like 1Imported
Gene namesⁱ	Name:MAB21L1Imported Synonyms:CAGR11 Publication ORF Names:Nbla001261 Publication
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 13

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000180660.7
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:6757 MAB21L1
MIMⁱ	601280 gene
neXtProtⁱ	NX_Q13394

Keywords - Cellular componentⁱ

Nucleus

Pathology & Biotechⁱ

Mutagenesis

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Mutagenesisⁱ	51	R → C: Decreased protein stability. 1 Publication		1
Mutagenesisⁱ	247	R → Q: Decreased protein stability. 1 Publication		1

Organism-specific databases

DisGeNET More...DisGeNETⁱ	4081
Open Targets More...OpenTargetsⁱ	ENSG00000180660
PharmGKBⁱ	PA30516

Polymorphism and mutation databases

BioMutaⁱ	MAB21L1
DMDMⁱ	74739786

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000312781	1 – 359	Putative nucleotidyltransferase MAB21L1Add BLAST		359

Proteomic databases

PaxDbⁱ	Q13394
PeptideAtlas More...PeptideAtlasⁱ	Q13394
PRIDEⁱ	Q13394
ProteomicsDBⁱ	59364
TopDownProteomicsⁱ	Q13394

PTM databases

iPTMnetⁱ	Q13394
PhosphoSitePlusⁱ	Q13394

Expressionⁱ

Tissue specificityⁱ

Gene expression databases

Bgeeⁱ	ENSG00000180660 Expressed in 121 organ(s), highest expression level in pigmented layer of retina
CleanExⁱ	HS_MAB21L1
ExpressionAtlasⁱ	Q13394 baseline and differential
Genevisibleⁱ	Q13394 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA049324 HPA059864

HPAⁱ

HPA049324
HPA059864

Interactionⁱ

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

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
SIAH1	Q8IUQ4	3	EBI-10229059,EBI-747107

With

Entry

#Exp.

IntAct

Notes

SIAH1

Q8IUQ4

EBI-10229059,EBI-747107

Protein-protein interaction databases

BioGridⁱ	110256, 11 interactors
IntActⁱ	Q13394, 1 interactor
STRINGⁱ	9606.ENSP00000369251

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	2 – 48	Combined sources	47
Beta strandⁱ	66 – 70	Combined sources	5
Beta strandⁱ	73 – 79	Combined sources	7
Beta strandⁱ	86 – 89	Combined sources	4
Beta strandⁱ	97 – 106	Combined sources	10
Turnⁱ	108 – 110	Combined sources	3
Helixⁱ	114 – 116	Combined sources	3
Beta strandⁱ	121 – 123	Combined sources	3
Helixⁱ	125 – 142	Combined sources	18
Helixⁱ	146 – 148	Combined sources	3
Beta strandⁱ	149 – 151	Combined sources	3
Beta strandⁱ	159 – 162	Combined sources	4
Turnⁱ	163 – 165	Combined sources	3
Beta strandⁱ	166 – 176	Combined sources	11
Helixⁱ	182 – 184	Combined sources	3
Helixⁱ	197 – 205	Combined sources	9
Beta strandⁱ	208 – 211	Combined sources	4
Beta strandⁱ	230 – 233	Combined sources	4
Helixⁱ	235 – 241	Combined sources	7
Helixⁱ	247 – 261	Combined sources	15
Helixⁱ	271 – 284	Combined sources	14
Helixⁱ	288 – 291	Combined sources	4
Helixⁱ	293 – 295	Combined sources	3
Helixⁱ	296 – 312	Combined sources	17
Turnⁱ	326 – 329	Combined sources	4
Helixⁱ	332 – 351	Combined sources	20
Helixⁱ	353 – 358	Combined sources	6

Show more details

3D structure databases

ProteinModelPortalⁱ	Q13394
SMRⁱ	Q13394
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

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

Sequence similaritiesⁱ

Belongs to the mab-21 family.Curated

Phylogenomic databases

eggNOGⁱ	KOG3963 Eukaryota ENOG410XNRJ LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00510000046791
HOGENOMⁱ	HOG000007337
HOVERGENⁱ	HBG053080
InParanoidⁱ	Q13394
OMAⁱ	YFLPHVD
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0939
PhylomeDBⁱ	Q13394
TreeFamⁱ	TF315012

Family and domain databases

InterProⁱ	View protein in InterPro IPR024810 Mab-21_dom
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF03281 Mab-21, 1 hit
SMARTⁱ	View protein in SMART SM01265 Mab-21, 1 hit

Sequenceⁱ

Sequence statusⁱ: Complete.

Q13394-1 [UniParc]FASTA Add to basket

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        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

Checksum:ⁱA27C53FBC997A049

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	132	F → L in CAG33701 (Ref. 3) Curated		1

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 key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_037568	70	S → P. Corresponds to variant dbSNP:rs1065316Ensembl.		1

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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS9353.1
PIRⁱ	G02221
NCBI Reference Sequences More...RefSeqⁱ	NP_005575.1, NM_005584.4
UniGeneⁱ	Hs.584776

Genome annotation databases

Ensemblⁱ	ENST00000379919; ENSP00000369251; ENSG00000180660
GeneIDⁱ	4081
KEGGⁱ	hsa:4081
UCSC genome browser More...UCSCⁱ	uc032aca.2 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q13394	Putative nucleotidyltransferase MAB21L1		BOVIN		359	UniRef100_Q13394
Putative nucleotidyltransferase MAB21L1		CHICK		359
Putative nucleotidyltransferase MAB21L1		MOUSE		359
Protein mab-21-like 1 (Fragment)		OPHHA		512
Mab-21-like 1 (Fragment)		MUSPF		82
+91

Protein	Similar proteins		Species	Score	Length	Source
Q13394	Putative nucleotidyltransferase MAB21L1		BOVIN		359	UniRef90_Q13394
Putative nucleotidyltransferase MAB21L1		CHICK		359
Putative nucleotidyltransferase MAB21L1		MOUSE		359
Protein mab-21-like 1 (Fragment)		OPHHA		512
Mab-21-like 1 (Fragment)		MUSPF		82
+91

Protein	Similar proteins		Species	Score	Length	Source
Q13394	Putative nucleotidyltransferase MAB21L1		BOVIN		359	UniRef50_Q13394
Putative nucleotidyltransferase MAB21L1		CHICK		359
Putative nucleotidyltransferase MAB21L1		MOUSE		359
Putative nucleotidyltransferase MAB21L1		XENTR		359
Protein mab-21-like 2-A		XENLA		359
+506

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
CCDSⁱ	CCDS9353.1
PIRⁱ	G02221
RefSeqⁱ	NP_005575.1, NM_005584.4
UniGeneⁱ	Hs.584776

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 entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	5EOG	X-ray	3.05	A/B/C/D/F	2-359	[»]
	5EOM	X-ray	2.55	A/B/C/D/E/F/G/H/I/J	2-359	[»]
ProteinModelPortalⁱ	Q13394
SMRⁱ	Q13394
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	110256, 11 interactors
IntActⁱ	Q13394, 1 interactor
STRINGⁱ	9606.ENSP00000369251

PTM databases

iPTMnetⁱ	Q13394
PhosphoSitePlusⁱ	Q13394

Polymorphism and mutation databases

BioMutaⁱ	MAB21L1
DMDMⁱ	74739786

Proteomic databases

PaxDbⁱ	Q13394
PeptideAtlasⁱ	Q13394
PRIDEⁱ	Q13394
ProteomicsDBⁱ	59364
TopDownProteomicsⁱ	Q13394

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	4081
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000379919; ENSP00000369251; ENSG00000180660
GeneIDⁱ	4081
KEGGⁱ	hsa:4081
UCSCⁱ	uc032aca.2 human

Organism-specific databases

CTDⁱ	4081
DisGeNETⁱ	4081
EuPathDBⁱ	HostDB:ENSG00000180660.7
GeneCardsⁱ	MAB21L1
HGNCⁱ	HGNC:6757 MAB21L1
HPAⁱ	HPA049324 HPA059864
MIMⁱ	601280 gene
neXtProtⁱ	NX_Q13394
OpenTargetsⁱ	ENSG00000180660
PharmGKBⁱ	PA30516
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3963 Eukaryota ENOG410XNRJ LUCA
GeneTreeⁱ	ENSGT00510000046791
HOGENOMⁱ	HOG000007337
HOVERGENⁱ	HBG053080
InParanoidⁱ	Q13394
OMAⁱ	YFLPHVD
OrthoDBⁱ	EOG091G0939
PhylomeDBⁱ	Q13394
TreeFamⁱ	TF315012

Miscellaneous databases

GenomeRNAiⁱ	4081
Protein Ontology More...PROⁱ	PR:Q13394
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000180660 Expressed in 121 organ(s), highest expression level in pigmented layer of retina
CleanExⁱ	HS_MAB21L1
ExpressionAtlasⁱ	Q13394 baseline and differential
Genevisibleⁱ	Q13394 HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR024810 Mab-21_dom
Pfamⁱ	View protein in Pfam PF03281 Mab-21, 1 hit
SMARTⁱ	View protein in SMART SM01265 Mab-21, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	MB211_HUMAN
Accessionⁱ	Q13394Primary (citable) accession number: Q13394 Secondary accession number(s): Q6I9T5
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	December 4, 2007
	Last sequence update:	November 1, 1996
	Last modified:	September 12, 2018
	This is version 127 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
SIMILARITY comments
Index of protein domains and families
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
Human chromosome 13
Human chromosome 13: entries, gene names and cross-references to MIM
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q13394 (MB211_HUMAN)

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Putative nucleotidyltransferase MAB21L1

MAB21L1

Select a section on the left to see content.

<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

Sites

Regions

<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>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

Organism-specific databases

<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

Nucleus

Nucleus

Keywords - Cellular componenti

<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

Mutagenesis

Organism-specific databases

Polymorphism and mutation databases

<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

Proteomic databases

PTM databases

<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

Gene expression databases

Organism-specific databases

<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

Protein-protein interaction databases

<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

3D structure databases

<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 information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<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

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

Documents

UniProt is an ELIXIR core data resource

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ