Q13394 (MB211_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein mab-21-like 1

Gene names

Name:	MAB21L1
Synonyms:	CAGR1
ORF Names:	Nbla00126

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	359 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Required for several aspects of embryonic development including normal development of the eye By similarity.
Subcellular location	Nucleus By similarity.
Tissue specificity	Expressed in brain, cerebellum and skeletal muscle. Ref.1
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.
Sequence similarities	Belongs to the mab-21 family.

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	anatomical structure morphogenesis Traceable author statement. Source: ProtInc
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 359	359	Protein mab-21-like 1		PRO_0000312781
Natural variations
	Natural variant	70	1	S → P. Corresponds to variant rs1065316 [ dbSNP | Ensembl ].		VAR_037568
Experimental info
	Sequence conflict	132	1	F → L in CAG33701. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q13394 [UniParc]. Last modified November 1, 1996. Version 1. Checksum: A27C53FBC997A049	FASTA	359	40,956
	10 20 30 40 50 60 MIAAQAKLVY HLNKYYNEKC QARKAAIAKT IREVCKVVSD VLKEVEVQEP RFISSLNEMD 70 80 90 100 110 120 NRYEGLEVIS PTEFEVVLYL NQMGVFNFVD DGSLPGCAVL KLSDGRKRSM SLWVEFITAS 130 140 150 160 170 180 GYLSARKIRS RFQTLVAQAV DKCSYRDVVK MVADTSEVKL RIRDRYVVQI TPAFKCTGIW 190 200 210 220 230 240 PRSAAHWPLP HIPWPGPNRV AEVKAEGFNL LSKECHSLAG KQSSAESDAW VLQFAEAENR 250 260 270 280 290 300 LQMGGCRKKC LSILKTLRDR HLELPGQPLN NYHMKTLVSY ECEKHPRESD WDESCLGDRL 310 320 330 340 350 NGILLQLISC LQCRRCPHYF LPNLDLFQGK PHSALENAAK QTWRLAREIL TNPKSLEKL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 8733127] [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: 12880961] [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: 15057823] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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: 15489334] [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: 9152839] [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: 9950369] [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: 15526290] [Abstract] Cited for: TRINUCLEOTIDE REPEAT POLYMORPHISM.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00023724.
PIR	G02221.
RefSeq	NP_005575.1. NM_005584.4.
UniGene	Hs.584776.
3D structure databases
ProteinModelPortal	Q13394.
ModBase	Search...
Protein-protein interaction databases
STRING	Q13394.
PTM databases
PhosphoSite	Q13394.
Polymorphism databases
DMDM	74739786.
Proteomic databases
PRIDE	Q13394.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000379919; ENSP00000369251; ENSG00000180660.
GeneID	4081.
KEGG	hsa:4081.
UCSC	uc001uvc.1. human.
Organism-specific databases
CTD	4081.
GeneCards	GC13M036048.
H-InvDB	HIX0011232.
HGNC	HGNC:6757. MAB21L1.
MIM	601280. gene.
neXtProt	NX_Q13394.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG04907.
GeneTree	ENSGT00510000046791.
HOGENOM	HBG381681.
HOVERGEN	HBG053080.
InParanoid	Q13394.
OMA	IWPRSAS.
OrthoDB	EOG4PK280.
PhylomeDB	Q13394.
Gene expression databases
ArrayExpress	Q13394.
Bgee	Q13394.
CleanEx	HS_MAB21L1.
Genevestigator	Q13394.
Family and domain databases
InterPro	IPR024810. Mab-21_dom. IPR024801. Mab21L1. [Graphical view]
PANTHER	PTHR10656:SF14. PTHR10656:SF14. 1 hit.
Pfam	PF03281. Mab-21. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	15996.
SOURCE	Search...

Entry information

Entry name

MB211_HUMAN

Accession

Primary (citable) accession number: Q13394
Secondary accession number(s): Q6I9T5

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 4, 2007
Last sequence update:	November 1, 1996
Last modified:	January 25, 2012
This is version 82 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.