Reviewed, UniProtKB/Swiss-Prot Q96Q35 (AL2SB_HUMAN)

Names and origin

Protein names

Recommended name:
    Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein

Gene names

Name:

ALS2CR12

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	445 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Domain	Coiled coil
PTM	Acetylation
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	regulation of GTPase activity Ref.1 Non-traceable author statement. Source: UniProtKB
Molecular function	protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
PIK3R1	P27986	1	EBI-1755548,EBI-79464
SRC	P12931	1	EBI-1755548,EBI-621482

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 445	445	Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein		PRO_0000064540
Regions
	Coiled coil	122 – 226	105	Potential
	Coiled coil	283 – 315	33	Potential
	Coiled coil	387 – 414	28	Potential
Amino acid modifications
	Modified residue	376	1	N6-acetyllysine Ref.4
Natural variations
	Natural variant	43	1	V → L: dbSNP rs13014235. Ref.1		VAR_045625

Sequences

	Sequence		Length	Mass (Da)
	Q96Q35-1 [UniParc]. Last modified July 22, 2008. Version 2. Checksum: D8E65CEC49AFD522	FASTA	445	52,439
	10 20 30 40 50 60 MYPNPLIYCT CWDPWNLGPR KLIKTPQLPR KNSTGSSKLT PLVPAPKNHN YLQPTKPVVS 70 80 90 100 110 120 PKMKIHSARQ EETNKSFYEV INVSPGYQLV RNREQISVTL GDEMFDRKKR WESEIPDKGR 130 140 150 160 170 180 FSRTNIISDL EEQISELTAI IEQMNRDHQS AQKLLSSEMD LRCAEMKQNF ENKNRELKEA 190 200 210 220 230 240 HEAELSELEN NYKAALKAEK LAAQEKLEEM GKEYKYLKNM FRTYQDSIYD EMEEKWSKQK 250 260 270 280 290 300 AKWKKDEKFE RENILLQQKK KMTKKFEMES GEEDKKINES CSAVFENFIQ EKEELLKQHQ 310 320 330 340 350 360 SDTLQLEELR KTKEVPWRRD QINRHWHDVL QQLLLMQVMQ EELHAQALIL ESLNTNLYYT 370 380 390 400 410 420 QLELQKEKAI VGNLEKMLQT KFAETEEKYK HTIQILTEEN IHLKQKIISK NEEICEGCSG 430 440 RLASITVSKD DSDTVQDGSK KGQES

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2." Hadano S., Hand C.K., Osuga H., Yanagisawa Y., Otomo A., Devon R.S., Miyamoto N., Showguchi-Miyata J., Okada Y., Singaraja R., Figlewicz D.A., Kwiatkowski T., Hosler B.A., Sagie T., Skaug J., Nasir J., Brown R.H. Jr., Scherer S.W. , Rouleau G.A., Hayden M.R., Ikeda J.-E. Nat. Genet. 29:166-173(2001) [PubMed: 11586298] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT LEU-43. Tissue: Testis.
[2]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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]	"Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed: 19608861] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-376, MASS SPECTROMETRY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB053314 mRNA. Translation: BAB69022.1. AC007256 Genomic DNA. Translation: AAY24226.1. CH471063 Genomic DNA. Translation: EAW70267.1.
IPI	IPI00044666.
RefSeq	NP_001120863.1. NP_631902.2.
UniGene	Hs.107944
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96Q35. 2 interactions.
STRING	Q96Q35.
Proteomic databases
PRIDE	Q96Q35.
Genome annotation databases
Ensembl	ENST00000286190; ENSP00000286190; ENSG00000155749; Homo sapiens. [Genome view] ENST00000405148; ENSP00000385098; ENSG00000155749; Homo sapiens. [Genome view]
GeneID	130540.
KEGG	hsa:130540.
Organism-specific databases
CTD	130540.
GeneCards	GC02M201861.
H-InvDB	HIX0002737.
HGNC	HGNC:14439. ALS2CR12.
PharmGKB	PA24735.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG11154.
HOGENOM	HBG282760.
HOVERGEN	Q96Q35.
InParanoid	Q96Q35.
OMA	DEMFDRK.
OrthoDB	EOG9HB164.
PhylomeDB	Q96Q35.
Gene expression databases
ArrayExpress	Q96Q35.
Bgee	Q96Q35.
CleanEx	HS_ALS2CR12.
Genevestigator	Q96Q35.
GermOnline	ENSG00000155749. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other Resources
NextBio	82764.

Entry information

Entry name

AL2SB_HUMAN

Accession

Primary (citable) accession number: Q96Q35
Secondary accession number(s): Q53TT6

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 19, 2002
Last sequence update:	July 22, 2008
Last modified:	January 19, 2010
This is version 52 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.