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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

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

PharmGKBiPA30516.

Polymorphism and mutation databases

BioMutaiMAB21L1.
DMDMi74739786.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 359359Protein mab-21-like 1PRO_0000312781Add
BLAST

Proteomic databases

PaxDbiQ13394.
PRIDEiQ13394.
TopDownProteomicsiQ13394.

PTM databases

PhosphoSiteiQ13394.

Expressioni

Tissue specificityi

Expressed in brain, cerebellum and skeletal muscle.1 Publication

Gene expression databases

BgeeiQ13394.
CleanExiHS_MAB21L1.
ExpressionAtlasiQ13394. baseline and differential.
GenevisibleiQ13394. HS.

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi110256. 11 interactions.
IntActiQ13394. 1 interaction.
STRINGi9606.ENSP00000369251.

Structurei

3D structure databases

ProteinModelPortaliQ13394.
SMRiQ13394. Positions 18-327.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the mab-21 family.Curated

Phylogenomic databases

eggNOGiKOG3963. Eukaryota.
ENOG410XNRJ. LUCA.
GeneTreeiENSGT00510000046791.
HOGENOMiHOG000007337.
HOVERGENiHBG053080.
InParanoidiQ13394.
OMAiSEYEWED.
OrthoDBiEOG7F24SW.
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti132 – 1321F → L in CAG33701 (Ref. 3) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti70 – 701S → P.
Corresponds to variant rs1065316 [ dbSNP | Ensembl ].
VAR_037568

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

ProteinModelPortaliQ13394.
SMRiQ13394. Positions 18-327.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110256. 11 interactions.
IntActiQ13394. 1 interaction.
STRINGi9606.ENSP00000369251.

PTM databases

PhosphoSiteiQ13394.

Polymorphism and mutation databases

BioMutaiMAB21L1.
DMDMi74739786.

Proteomic databases

PaxDbiQ13394.
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.
GeneCardsiMAB21L1.
HGNCiHGNC:6757. MAB21L1.
MIMi601280. gene.
neXtProtiNX_Q13394.
PharmGKBiPA30516.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3963. Eukaryota.
ENOG410XNRJ. LUCA.
GeneTreeiENSGT00510000046791.
HOGENOMiHOG000007337.
HOVERGENiHBG053080.
InParanoidiQ13394.
OMAiSEYEWED.
OrthoDBiEOG7F24SW.
PhylomeDBiQ13394.
TreeFamiTF315012.

Miscellaneous databases

GenomeRNAii4081.
NextBioi15996.
PROiQ13394.
SOURCEiSearch...

Gene expression databases

BgeeiQ13394.
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...

Publicationsi

« Hide 'large scale' publications
  1. "cDNA cloning of a human homologue of the Caenorhabditis elegans cell fate-determining gene mab-21: expression, chromosomal localization and analysis of a highly polymorphic (CAG)n trinucleotide repeat."
    Margolis R.L., Stine Q.C., Mcinnis M.G., Ranen N.G., Rubinsztein D.C., Leggo J., Jones Brando L.V., Kidwai A.S., Loev S.J., Breschel T.S., Callahan C., Simpson S.G., DePaulo J.R., McMahon F.J., Jain S., Paykel E.S., Walsh C., DeLisi L.E.
    , Crow T.J., Torrey E.F., Ashworth R.G., Macke J.P., Nathans J., Ross C.A.
    Hum. Mol. Genet. 5:607-616(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, TRINUCLEOTIDE REPEAT POLYMORPHISM.
  2. "Neuroblastoma oligo-capping cDNA project: toward the understanding of the genesis and biology of neuroblastoma."
    Ohira M., Morohashi A., Nakamura Y., Isogai E., Furuya K., Hamano S., Machida T., Aoyama M., Fukumura M., Miyazaki K., Suzuki Y., Sugano S., Hirato J., Nakagawara A.
    Cancer Lett. 197:63-68(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Neuroblastoma.
  3. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. "The DNA sequence and analysis of human chromosome 13."
    Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
    Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  7. "Meiotic instability associated with the CAGR1 trinucleotide repeat at 13q13."
    Potter N.T.
    J. Med. Genet. 34:411-413(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: TRINUCLEOTIDE REPEAT POLYMORPHISM.
  8. "Unstable expansion of the CAG trinucleotide repeat in MAB21L1: report of a second pedigree and effect on protein expression."
    Margolis R.L., Stine O.C., Ward C.M., Franz M.L., Rosenblatt A., Callahan C., Sherr M., Ross C.A., Potter N.T.
    J. Med. Genet. 36:62-64(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: TRINUCLEOTIDE REPEAT POLYMORPHISM.
  9. "Molecular genetic analysis of human homologs of Caenorhabditis elegans mab-21-like 1 gene in patients with neural tube defects."
    Merello E., De Marco P., Moroni A., Raso A., Calevo M.G., Consalez G.G., Cama A., Capra V.
    Birth Defects Res. A Clin. Mol. Teratol. 70:885-888(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: TRINUCLEOTIDE REPEAT POLYMORPHISM.

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: May 11, 2016
This is version 114 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

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. 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.