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Protein

Protein mab-21-like 1

Gene

MAB21L1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Required for several aspects of embryonic development including normal development of the eye.By similarity

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Enzyme and pathway databases

BioCyciZFISH:ENSG00000180660-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein mab-21-like 1
Gene namesi
Name:MAB21L1
Synonyms:CAGR1
ORF Names:Nbla00126
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

HGNCiHGNC:6757. MAB21L1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi4081.
OpenTargetsiENSG00000180660.
PharmGKBiPA30516.

Polymorphism and mutation databases

BioMutaiMAB21L1.
DMDMi74739786.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003127811 – 359Protein mab-21-like 1Add BLAST359

Proteomic databases

PaxDbiQ13394.
PeptideAtlasiQ13394.
PRIDEiQ13394.
TopDownProteomicsiQ13394.

PTM databases

iPTMnetiQ13394.
PhosphoSitePlusiQ13394.

Expressioni

Tissue specificityi

Expressed in brain, cerebellum and skeletal muscle.1 Publication

Gene expression databases

BgeeiENSG00000180660.
CleanExiHS_MAB21L1.
ExpressionAtlasiQ13394. baseline and differential.
GenevisibleiQ13394. HS.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
SIAH1Q8IUQ43EBI-10229059,EBI-747107

Protein-protein interaction databases

BioGridi110256. 11 interactors.
IntActiQ13394. 1 interactor.
STRINGi9606.ENSP00000369251.

Structurei

Secondary structure

1359
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi2 – 48Combined sources47
Beta strandi66 – 70Combined sources5
Beta strandi73 – 79Combined sources7
Beta strandi86 – 89Combined sources4
Beta strandi97 – 106Combined sources10
Turni108 – 110Combined sources3
Helixi114 – 116Combined sources3
Beta strandi121 – 123Combined sources3
Helixi125 – 142Combined sources18
Helixi146 – 148Combined sources3
Beta strandi149 – 151Combined sources3
Beta strandi159 – 162Combined sources4
Turni163 – 165Combined sources3
Beta strandi166 – 176Combined sources11
Helixi182 – 184Combined sources3
Helixi197 – 205Combined sources9
Beta strandi208 – 211Combined sources4
Beta strandi230 – 233Combined sources4
Helixi235 – 241Combined sources7
Helixi247 – 261Combined sources15
Helixi271 – 284Combined sources14
Helixi288 – 291Combined sources4
Helixi293 – 295Combined sources3
Helixi296 – 312Combined sources17
Turni326 – 329Combined sources4
Helixi332 – 351Combined sources20
Helixi353 – 358Combined sources6

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
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[»]
ProteinModelPortaliQ13394.
SMRiQ13394.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the mab-21 family.Curated

Phylogenomic databases

eggNOGiKOG3963. Eukaryota.
ENOG410XNRJ. LUCA.
GeneTreeiENSGT00510000046791.
HOGENOMiHOG000007337.
HOVERGENiHBG053080.
InParanoidiQ13394.
OMAiCRKCPHY.
OrthoDBiEOG091G0939.
PhylomeDBiQ13394.
TreeFamiTF315012.

Family and domain databases

InterProiIPR020950. Mab-21-like_1/2.
IPR024810. Mab-21_dom.
[Graphical view]
PANTHERiPTHR10656:SF38. PTHR10656:SF38. 1 hit.
PfamiPF03281. Mab-21. 1 hit.
[Graphical view]
SMARTiSM01265. Mab-21. 1 hit.
[Graphical view]

Sequencei

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
Checksum:iA27C53FBC997A049
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti132F → L in CAG33701 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03756870S → P.Corresponds to variant rs1065316dbSNPEnsembl.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. Translation: CAI17181.1.
CH471075 Genomic DNA. Translation: EAX08547.1.
BC028170 mRNA. Translation: AAH28170.1.
CCDSiCCDS9353.1.
PIRiG02221.
RefSeqiNP_005575.1. NM_005584.4.
UniGeneiHs.584776.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

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. Translation: CAI17181.1.
CH471075 Genomic DNA. Translation: EAX08547.1.
BC028170 mRNA. Translation: AAH28170.1.
CCDSiCCDS9353.1.
PIRiG02221.
RefSeqiNP_005575.1. NM_005584.4.
UniGeneiHs.584776.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
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[»]
ProteinModelPortaliQ13394.
SMRiQ13394.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110256. 11 interactors.
IntActiQ13394. 1 interactor.
STRINGi9606.ENSP00000369251.

PTM databases

iPTMnetiQ13394.
PhosphoSitePlusiQ13394.

Polymorphism and mutation databases

BioMutaiMAB21L1.
DMDMi74739786.

Proteomic databases

PaxDbiQ13394.
PeptideAtlasiQ13394.
PRIDEiQ13394.
TopDownProteomicsiQ13394.

Protocols and materials databases

DNASUi4081.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi4081.
DisGeNETi4081.
GeneCardsiMAB21L1.
HGNCiHGNC:6757. MAB21L1.
MIMi601280. gene.
neXtProtiNX_Q13394.
OpenTargetsiENSG00000180660.
PharmGKBiPA30516.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3963. Eukaryota.
ENOG410XNRJ. LUCA.
GeneTreeiENSGT00510000046791.
HOGENOMiHOG000007337.
HOVERGENiHBG053080.
InParanoidiQ13394.
OMAiCRKCPHY.
OrthoDBiEOG091G0939.
PhylomeDBiQ13394.
TreeFamiTF315012.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000180660-MONOMER.

Miscellaneous databases

GenomeRNAii4081.
PROiQ13394.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000180660.
CleanExiHS_MAB21L1.
ExpressionAtlasiQ13394. baseline and differential.
GenevisibleiQ13394. HS.

Family and domain databases

InterProiIPR020950. Mab-21-like_1/2.
IPR024810. Mab-21_dom.
[Graphical view]
PANTHERiPTHR10656:SF38. PTHR10656:SF38. 1 hit.
PfamiPF03281. Mab-21. 1 hit.
[Graphical view]
SMARTiSM01265. Mab-21. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMB211_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 119 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

Miscellaneous

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.

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.