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Protein

Ataxin-7-like protein 2

Gene

ATXN7L2

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

Names & Taxonomyi

Protein namesi
Recommended name:
Ataxin-7-like protein 2
Gene namesi
Name:ATXN7L2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000162650.15
HGNCiHGNC:28713 ATXN7L2
neXtProtiNX_Q5T6C5

Pathology & Biotechi

Organism-specific databases

DisGeNETi127002
OpenTargetsiENSG00000162650
PharmGKBiPA134927530

Polymorphism and mutation databases

BioMutaiATXN7L2
DMDMi74745198

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002783001 – 722Ataxin-7-like protein 2Add BLAST722

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei575PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ5T6C5
MaxQBiQ5T6C5
PaxDbiQ5T6C5
PeptideAtlasiQ5T6C5
PRIDEiQ5T6C5
ProteomicsDBi64577

PTM databases

iPTMnetiQ5T6C5
PhosphoSitePlusiQ5T6C5

Expressioni

Gene expression databases

BgeeiENSG00000162650 Expressed in 90 organ(s), highest expression level in muscle of leg
CleanExiHS_ATXN7L2
ExpressionAtlasiQ5T6C5 baseline and differential
GenevisibleiQ5T6C5 HS

Organism-specific databases

HPAiHPA029827
HPA054952

Interactioni

Protein-protein interaction databases

BioGridi126028, 10 interactors
CORUMiQ5T6C5
IntActiQ5T6C5, 5 interactors
STRINGi9606.ENSP00000358886

Structurei

3D structure databases

ProteinModelPortaliQ5T6C5
SMRiQ5T6C5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini230 – 297SCA7PROSITE-ProRule annotationAdd BLAST68

Phylogenomic databases

eggNOGiKOG4140 Eukaryota
ENOG4111BXS LUCA
GeneTreeiENSGT00530000063215
HOGENOMiHOG000294165
HOVERGENiHBG058380
InParanoidiQ5T6C5
KOiK11318
OMAiPGKNPMA
OrthoDBiEOG091G0253
PhylomeDBiQ5T6C5
TreeFamiTF331337

Family and domain databases

InterProiView protein in InterPro
IPR013243 SCA7_dom
PfamiView protein in Pfam
PF08313 SCA7, 1 hit
PROSITEiView protein in PROSITE
PS51505 SCA7, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q5T6C5-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAVRERAAAA MAALERRVPS LDDFAGQSWS SWVERADLPA ADGAELEESS
60 70 80 90 100
KNTKKLDAMT LIKEDMSIFG HCPAHDDFYL VVCNHCSQVV KPQAFQKHCE
110 120 130 140 150
RRHGPLSKLY GRAPPPPPAP ASSQKCHVVN GQGPACRAPG STKTSSREKG
160 170 180 190 200
QGSRSRGHQP PEKTQKDNLC QPGGLTKDSP GKPPMAPPSK EPPGRENIEI
210 220 230 240 250
IPSEGSSHWA EGSPPEKEPS GTRLPPKTHR KMARKECDLN RQCGVINPET
260 270 280 290 300
KKICTRLLTC KIHSVHQRRE VQGRAKDFDV LVAELKANSR KGESPKEKSP
310 320 330 340 350
GRKEQVLERP SQELPSSVQV VAAVAAPSST FSVRAKQTYP YCALPRSRAS
360 370 380 390 400
SESELDDEGP CGGDGDPGLF PFPMPRGGTQ ASSEESEEEG TSDDLHPPPD
410 420 430 440 450
CHYATRPPRP QAFCTFGSRL VSPGCYVFSR RLDRFCSALS SMLERHLSTH
460 470 480 490 500
MWKKIPPAAE PPAHLVNSPL SAPLSPSSTG TCPRLPGPTL RPACPASMPP
510 520 530 540 550
TKDNLVPSYP AGSPSVAAAC SQAECMGGSQ AITSPLPANT PSPSFSKLPP
560 570 580 590 600
SKASKSSKGK DGVEVEAPSR KRKLSPGPTT LKRTCILEPT GKGKPSGCRG
610 620 630 640 650
LSAKTKTALS MGLNGTMGPR VKRAGPLDCR GSPHQLPTPV KASQLENRGA
660 670 680 690 700
AGHPAKALPT NCLSEEEVAK KRKNLATYCR PVKAKHCQAG APADVACSVR
710 720
RKKPGPALAF EEKCSTLKSK AH
Length:722
Mass (Da):77,181
Last modified:December 21, 2004 - v1
Checksum:iEAEF2D380B475A8D
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
S4R3G5S4R3G5_HUMAN
Ataxin-7-like protein 2
ATXN7L2
103Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_053780495P → S. Corresponds to variant dbSNP:rs1149172Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL355145 Genomic DNA No translation available.
CCDSiCCDS30794.1
RefSeqiNP_699171.3, NM_153340.4
UniGeneiHs.118248

Genome annotation databases

EnsembliENST00000369870; ENSP00000358886; ENSG00000162650
GeneIDi127002
KEGGihsa:127002
UCSCiuc001dxr.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL355145 Genomic DNA No translation available.
CCDSiCCDS30794.1
RefSeqiNP_699171.3, NM_153340.4
UniGeneiHs.118248

3D structure databases

ProteinModelPortaliQ5T6C5
SMRiQ5T6C5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126028, 10 interactors
CORUMiQ5T6C5
IntActiQ5T6C5, 5 interactors
STRINGi9606.ENSP00000358886

PTM databases

iPTMnetiQ5T6C5
PhosphoSitePlusiQ5T6C5

Polymorphism and mutation databases

BioMutaiATXN7L2
DMDMi74745198

Proteomic databases

EPDiQ5T6C5
MaxQBiQ5T6C5
PaxDbiQ5T6C5
PeptideAtlasiQ5T6C5
PRIDEiQ5T6C5
ProteomicsDBi64577

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369870; ENSP00000358886; ENSG00000162650
GeneIDi127002
KEGGihsa:127002
UCSCiuc001dxr.4 human

Organism-specific databases

CTDi127002
DisGeNETi127002
EuPathDBiHostDB:ENSG00000162650.15
GeneCardsiATXN7L2
HGNCiHGNC:28713 ATXN7L2
HPAiHPA029827
HPA054952
neXtProtiNX_Q5T6C5
OpenTargetsiENSG00000162650
PharmGKBiPA134927530
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4140 Eukaryota
ENOG4111BXS LUCA
GeneTreeiENSGT00530000063215
HOGENOMiHOG000294165
HOVERGENiHBG058380
InParanoidiQ5T6C5
KOiK11318
OMAiPGKNPMA
OrthoDBiEOG091G0253
PhylomeDBiQ5T6C5
TreeFamiTF331337

Miscellaneous databases

GenomeRNAii127002
PROiPR:Q5T6C5

Gene expression databases

BgeeiENSG00000162650 Expressed in 90 organ(s), highest expression level in muscle of leg
CleanExiHS_ATXN7L2
ExpressionAtlasiQ5T6C5 baseline and differential
GenevisibleiQ5T6C5 HS

Family and domain databases

InterProiView protein in InterPro
IPR013243 SCA7_dom
PfamiView protein in Pfam
PF08313 SCA7, 1 hit
PROSITEiView protein in PROSITE
PS51505 SCA7, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiAT7L2_HUMAN
AccessioniPrimary (citable) accession number: Q5T6C5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: December 21, 2004
Last modified: November 7, 2018
This is version 93 of the entry and version 1 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 1
    Human chromosome 1: 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
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Main funding by: National Institutes of Health

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