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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

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

EuPathDBiHostDB:ENSG00000155749.12.
HGNCiHGNC:14439. ALS2CR12.

Subcellular locationi

Keywords - Cellular componenti

Cell projection, Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi130540.
OpenTargetsiENSG00000155749.
PharmGKBiPA24735.

Polymorphism and mutation databases

BioMutaiALS2CR12.
DMDMi212278361.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000645401 – 445Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 proteinAdd BLAST445

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei376N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

PaxDbiQ96Q35.
PeptideAtlasiQ96Q35.
PRIDEiQ96Q35.

PTM databases

iPTMnetiQ96Q35.
PhosphoSitePlusiQ96Q35.

Expressioni

Gene expression databases

BgeeiENSG00000155749.
CleanExiHS_ALS2CR12.
ExpressionAtlasiQ96Q35. baseline and differential.
GenevisibleiQ96Q35. HS.

Organism-specific databases

HPAiHPA035793.

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi126239. 4 interactors.
IntActiQ96Q35. 20 interactors.
MINTiMINT-1440907.
STRINGi9606.ENSP00000286190.

Structurei

3D structure databases

ProteinModelPortaliQ96Q35.
SMRiQ96Q35.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili122 – 226Sequence analysisAdd BLAST105
Coiled coili283 – 315Sequence analysisAdd BLAST33
Coiled coili387 – 414Sequence analysisAdd BLAST28

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IKTG. Eukaryota.
ENOG411218R. LUCA.
GeneTreeiENSGT00400000022323.
HOGENOMiHOG000033891.
HOVERGENiHBG099872.
InParanoidiQ96Q35.
OMAiEMFDRKK.
OrthoDBiEOG091G0CIS.
PhylomeDBiQ96Q35.
TreeFamiTF338239.

Family and domain databases

InterProiView protein in InterPro
IPR026674. ALS2CR12.
PANTHERiPTHR21707. PTHR21707. 1 hit.

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_04562543V → L2 PublicationsCorresponds to variant dbSNP:rs13014235Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_046184315 – 337Missing in isoform 2. 1 PublicationAdd BLAST23

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

Similar proteinsi

Entry informationi

Entry nameiAL2SB_HUMAN
AccessioniPrimary (citable) accession number: Q96Q35
Secondary accession number(s): G5E9S3, Q53TT6, Q8N1B6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: July 22, 2008
Last modified: October 25, 2017
This is version 120 of the entry and version 2 of the sequence. See 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