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Protein

Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein

Gene

ALS2CR12

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

Functioni

GO - Biological processi

  • regulation of GTPase activity Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:14439. ALS2CR12.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA24735.

Polymorphism and mutation databases

BioMutaiALS2CR12.
DMDMi212278361.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 445445Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 proteinPRO_0000064540Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei376 – 3761N6-acetyllysineCombined sources

Keywords - PTMi

Acetylation

Proteomic databases

PaxDbiQ96Q35.
PeptideAtlasiQ96Q35.
PRIDEiQ96Q35.

PTM databases

iPTMnetiQ96Q35.
PhosphoSiteiQ96Q35.

Expressioni

Gene expression databases

BgeeiQ96Q35.
CleanExiHS_ALS2CR12.
ExpressionAtlasiQ96Q35. baseline and differential.
GenevisibleiQ96Q35. HS.

Organism-specific databases

HPAiHPA035793.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
STK16O757163EBI-750451,EBI-749295
SULT2B1O002048EBI-750451,EBI-749441
TCL1AP562793EBI-750451,EBI-749995
TXNDC5Q86UY03EBI-750451,EBI-2825190

Protein-protein interaction databases

BioGridi126239. 4 interactions.
IntActiQ96Q35. 6 interactions.
MINTiMINT-1440907.
STRINGi9606.ENSP00000286190.

Structurei

3D structure databases

ProteinModelPortaliQ96Q35.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili122 – 226105Sequence analysisAdd
BLAST
Coiled coili283 – 31533Sequence analysisAdd
BLAST
Coiled coili387 – 41428Sequence analysisAdd
BLAST

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IKTG. Eukaryota.
ENOG411218R. LUCA.
GeneTreeiENSGT00400000022323.
HOGENOMiHOG000033891.
HOVERGENiHBG099872.
InParanoidiQ96Q35.
OMAiDEMFDRK.
OrthoDBiEOG7MH0Z9.
PhylomeDBiQ96Q35.
TreeFamiTF338239.

Family and domain databases

InterProiIPR026674. ALS2CR12.
[Graphical view]
PANTHERiPTHR21707. PTHR21707. 2 hits.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96Q35-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MYPNPLIYCT CWDPWNLGPR KLIKTPQLPR KNSTGSSKLT PLVPAPKNHN
60 70 80 90 100
YLQPTKPVVS PKMKIHSARQ EETNKSFYEV INVSPGYQLV RNREQISVTL
110 120 130 140 150
GDEMFDRKKR WESEIPDKGR FSRTNIISDL EEQISELTAI IEQMNRDHQS
160 170 180 190 200
AQKLLSSEMD LRCAEMKQNF ENKNRELKEA HEAELSELEN NYKAALKAEK
210 220 230 240 250
LAAQEKLEEM GKEYKYLKNM FRTYQDSIYD EMEEKWSKQK AKWKKDEKFE
260 270 280 290 300
RENILLQQKK KMTKKFEMES GEEDKKINES CSAVFENFIQ EKEELLKQHQ
310 320 330 340 350
SDTLQLEELR KTKEVPWRRD QINRHWHDVL QQLLLMQVMQ EELHAQALIL
360 370 380 390 400
ESLNTNLYYT QLELQKEKAI VGNLEKMLQT KFAETEEKYK HTIQILTEEN
410 420 430 440
IHLKQKIISK NEEICEGCSG RLASITVSKD DSDTVQDGSK KGQES
Length:445
Mass (Da):52,439
Last modified:July 22, 2008 - v2
Checksum:iD8E65CEC49AFD522
GO
Isoform 2 (identifier: Q96Q35-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     315-337: Missing.

Note: No experimental confirmation available.
Show »
Length:422
Mass (Da):49,474
Checksum:i047EB5D22DA8DE4B
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti43 – 431V → L.2 Publications
Corresponds to variant rs13014235 [ dbSNP | Ensembl ].
VAR_045625

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei315 – 33723Missing in isoform 2. 1 PublicationVSP_046184Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB053314 mRNA. Translation: BAB69022.1.
AC007256 Genomic DNA. Translation: AAY24226.1.
CH471063 Genomic DNA. Translation: EAW70267.1.
CH471063 Genomic DNA. Translation: EAW70269.1.
BC031603 mRNA. Translation: AAH31603.1.
CCDSiCCDS2346.1. [Q96Q35-1]
CCDS46488.1. [Q96Q35-2]
RefSeqiNP_001120863.1. NM_001127391.2. [Q96Q35-2]
NP_001276922.1. NM_001289993.1. [Q96Q35-2]
NP_631902.2. NM_139163.3. [Q96Q35-1]
UniGeneiHs.107944.

Genome annotation databases

EnsembliENST00000286190; ENSP00000286190; ENSG00000155749. [Q96Q35-1]
ENST00000392257; ENSP00000376086; ENSG00000155749. [Q96Q35-2]
ENST00000405148; ENSP00000385098; ENSG00000155749. [Q96Q35-1]
ENST00000439709; ENSP00000412073; ENSG00000155749. [Q96Q35-2]
GeneIDi130540.
KEGGihsa:130540.
UCSCiuc002uya.5. human. [Q96Q35-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB053314 mRNA. Translation: BAB69022.1.
AC007256 Genomic DNA. Translation: AAY24226.1.
CH471063 Genomic DNA. Translation: EAW70267.1.
CH471063 Genomic DNA. Translation: EAW70269.1.
BC031603 mRNA. Translation: AAH31603.1.
CCDSiCCDS2346.1. [Q96Q35-1]
CCDS46488.1. [Q96Q35-2]
RefSeqiNP_001120863.1. NM_001127391.2. [Q96Q35-2]
NP_001276922.1. NM_001289993.1. [Q96Q35-2]
NP_631902.2. NM_139163.3. [Q96Q35-1]
UniGeneiHs.107944.

3D structure databases

ProteinModelPortaliQ96Q35.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126239. 4 interactions.
IntActiQ96Q35. 6 interactions.
MINTiMINT-1440907.
STRINGi9606.ENSP00000286190.

PTM databases

iPTMnetiQ96Q35.
PhosphoSiteiQ96Q35.

Polymorphism and mutation databases

BioMutaiALS2CR12.
DMDMi212278361.

Proteomic databases

PaxDbiQ96Q35.
PeptideAtlasiQ96Q35.
PRIDEiQ96Q35.

Protocols and materials databases

DNASUi130540.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000286190; ENSP00000286190; ENSG00000155749. [Q96Q35-1]
ENST00000392257; ENSP00000376086; ENSG00000155749. [Q96Q35-2]
ENST00000405148; ENSP00000385098; ENSG00000155749. [Q96Q35-1]
ENST00000439709; ENSP00000412073; ENSG00000155749. [Q96Q35-2]
GeneIDi130540.
KEGGihsa:130540.
UCSCiuc002uya.5. human. [Q96Q35-1]

Organism-specific databases

CTDi130540.
GeneCardsiALS2CR12.
H-InvDBHIX0002737.
HGNCiHGNC:14439. ALS2CR12.
HPAiHPA035793.
neXtProtiNX_Q96Q35.
PharmGKBiPA24735.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IKTG. Eukaryota.
ENOG411218R. LUCA.
GeneTreeiENSGT00400000022323.
HOGENOMiHOG000033891.
HOVERGENiHBG099872.
InParanoidiQ96Q35.
OMAiDEMFDRK.
OrthoDBiEOG7MH0Z9.
PhylomeDBiQ96Q35.
TreeFamiTF338239.

Miscellaneous databases

ChiTaRSiALS2CR12. human.
GenomeRNAii130540.
PROiQ96Q35.

Gene expression databases

BgeeiQ96Q35.
CleanExiHS_ALS2CR12.
ExpressionAtlasiQ96Q35. baseline and differential.
GenevisibleiQ96Q35. HS.

Family and domain databases

InterProiIPR026674. ALS2CR12.
[Graphical view]
PANTHERiPTHR21707. PTHR21707. 2 hits.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), 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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. 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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT LEU-43.
    Tissue: Brain.
  5. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-376, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiAL2SB_HUMAN
AccessioniPrimary (citable) accession number: Q96Q35
Secondary accession number(s): G5E9S3, Q53TT6, Q8N1B6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: July 22, 2008
Last modified: July 6, 2016
This is version 108 of the entry and version 2 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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

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.