Q969J3 (L12R1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Loss of heterozygosity 12 chromosomal region 1 protein

Gene names

Name:

LOH12CR1

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	196 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Tissue specificity	Widely expressed. Ref.1
Sequence similarities	Belongs to the LOH12CR1 family.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q969J3-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q969J3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     20-67: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 196	196	Loss of heterozygosity 12 chromosomal region 1 protein		PRO_0000318596
Amino acid modifications
	Modified residue	75	1	Phosphoserine Ref.5 Ref.6
Natural variations
	Alternative sequence	20 – 67	48	Missing in isoform 2.		VSP_031254
	Natural variant	41	1	S → C. Corresponds to variant rs3741795 [ dbSNP | Ensembl ].		VAR_038840
	Natural variant	191	1	D → N. Corresponds to variant rs3751262 [ dbSNP | Ensembl ].		VAR_038841

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: CC369C1971B4FEB8	FASTA	196	22,222
	10 20 30 40 50 60 MGSEQSSEAE SRPNDLNSSV TPSPAKHRAK MDDIVVVAQG SQASRNVSND PDVIKLQEIP 70 80 90 100 110 120 TFQPLLKGLL SGQTSPTNAK LEKLDSQQVL QLCLRYQDHL HQCAEAVAFD QNALVKRIKE 130 140 150 160 170 180 MDLSVETLFS FMQERQKRYA KYAEQIQKVN EMSAILRRIQ MGIDQTVPLL DRLNSMLPEG 190 ERLEPFSMKP DRELRL
	Isoform 2 [UniParc]. Checksum: 513E08D4300A45AD	FASTA	148	17,000
	10 20 30 40 50 60 MGSEQSSEAE SRPNDLNSSG LLSGQTSPTN AKLEKLDSQQ VLQLCLRYQD HLHQCAEAVA 70 80 90 100 110 120 FDQNALVKRI KEMDLSVETL FSFMQERQKR YAKYAEQIQK VNEMSAILRR IQMGIDQTVP 130 140 LLDRLNSMLP EGERLEPFSM KPDRELRL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A detailed transcriptional map of the chromosome 12p12 tumour suppressor locus." Montpetit A., Boily G., Sinnett D. Eur. J. Hum. Genet. 10:62-71(2002) [PubMed: 11896457] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Ovary.
[3]	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].
[4]	"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] (ISOFORM 1). Tissue: Brain.
[5]	"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-75, MASS SPECTROMETRY. Tissue: Embryonic kidney.
[6]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-75, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[7]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY037865 mRNA. Translation: AAK71328.1. AY037866 mRNA. Translation: AAK71329.1. AK075028 mRNA. Translation: BAC11360.1. CH471094 Genomic DNA. Translation: EAW96257.1. CH471094 Genomic DNA. Translation: EAW96258.1. BC013668 mRNA. Translation: AAH13668.1.
IPI	IPI00056386. IPI00163286.
RefSeq	NP_477517.1. NM_058169.3.
UniGene	Hs.720779.
3D structure databases
ProteinModelPortal	Q969J3.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q969J3. 1 interaction.
MINT	MINT-1453811.
STRING	Q969J3.
PTM databases
PhosphoSite	Q969J3.
Polymorphism databases
DMDM	74731048.
Proteomic databases
PRIDE	Q969J3.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000314565; ENSP00000321546; ENSG00000165714.
GeneID	118426.
KEGG	hsa:118426.
UCSC	uc001ral.1. human. uc009zhu.1. human.
Organism-specific databases
CTD	118426.
GeneCards	GC12P012510.
H-InvDB	HIX0010435.
HGNC	HGNC:17950. LOH12CR1.
neXtProt	NX_Q969J3.
PharmGKB	PA30421.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG249473.
GeneTree	ENSGT00390000015016.
HOGENOM	HBG447299.
HOVERGEN	HBG108081.
InParanoid	Q969J3.
OMA	PFSMRPD.
OrthoDB	EOG4JDH7T.
PhylomeDB	Q969J3.
Gene expression databases
ArrayExpress	Q969J3.
Bgee	Q969J3.
CleanEx	HS_LOH12CR1.
Genevestigator	Q969J3.
Family and domain databases
InterPro	IPR018780. Tumour_suppressor_LOH1CR12. [Graphical view]
Pfam	PF10158. LOH1CR12. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	80266.

Entry information

Entry name

L12R1_HUMAN

Accession

Primary (citable) accession number: Q969J3
Secondary accession number(s): Q96QS5

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 26, 2008
Last sequence update:	December 1, 2001
Last modified:	February 22, 2012
This is version 68 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.