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Protein

Ataxin-7-like protein 1

Gene

ATXN7L1

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:
Ataxin-7-like protein 1
Alternative name(s):
Ataxin-7-like protein 4
Gene namesi
Name:ATXN7L1
Synonyms:ATXN7L4, KIAA1218
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:22210. ATXN7L1.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134884892.

Polymorphism and mutation databases

BioMutaiATXN7L1.
DMDMi334302929.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 861861Ataxin-7-like protein 1PRO_0000064718Add
BLAST

Proteomic databases

EPDiQ9ULK2.
MaxQBiQ9ULK2.
PaxDbiQ9ULK2.
PeptideAtlasiQ9ULK2.
PRIDEiQ9ULK2.

PTM databases

iPTMnetiQ9ULK2.
PhosphoSiteiQ9ULK2.

Expressioni

Gene expression databases

BgeeiENSG00000146776.
CleanExiHS_ATXN7L1.
ExpressionAtlasiQ9ULK2. baseline and differential.
GenevisibleiQ9ULK2. HS.

Organism-specific databases

HPAiHPA021448.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
KRT31Q153233EBI-310660,EBI-948001
KRTAP10-9P604113EBI-310660,EBI-10172052
PHF1O431893EBI-310660,EBI-530034

Protein-protein interaction databases

BioGridi128794. 7 interactions.
IntActiQ9ULK2. 4 interactions.
MINTiMINT-4714677.
STRINGi9606.ENSP00000410759.

Structurei

3D structure databases

ProteinModelPortaliQ9ULK2.
SMRiQ9ULK2. Positions 289-347.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini284 – 35168SCA7PROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi364 – 41754Ser-richAdd
BLAST
Compositional biasi536 – 847312Ser-richAdd
BLAST

Sequence similaritiesi

Contains 1 SCA7 domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG4140. Eukaryota.
ENOG4111ZIZ. LUCA.
GeneTreeiENSGT00530000063215.
HOGENOMiHOG000252909.
HOVERGENiHBG004320.
InParanoidiQ9ULK2.
KOiK11318.
OMAiLVVCNIC.
OrthoDBiEOG091G0253.
PhylomeDBiQ9ULK2.
TreeFamiTF331337.

Family and domain databases

InterProiIPR013243. SCA7_dom.
[Graphical view]
PfamiPF08313. SCA7. 1 hit.
[Graphical view]
PROSITEiPS51505. SCA7. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9ULK2-1) [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
MTSERSRIPC LSAAAAEGTG KKQQEGRAMA TLDRKVPSPE AFLGKPWSSW
60 70 80 90 100
IDAAKLHCSD NVDLEEAGKE GGKSREVMRL NKEDMHLFGH YPAHDDFYLV
110 120 130 140 150
VCSACNQVVK PQVFQSHCER RHGSMCRPSP SPVSPASNPR TSLVQVKTKA
160 170 180 190 200
CLSGHHSASS TSKPFKTPKD NLLTSSSKQH TVFPAKGSRD KPCVPVPVVS
210 220 230 240 250
LEKIPNLVKA DGANVKMNST TTTAVSASST SSSAVSTPPL IKPVLMSKSV
260 270 280 290 300
PPSPEKILNG KGILPTTIDK KHQNGTKNSN KPYRRLSERE FDPNKHCGVL
310 320 330 340 350
DPETKKPCTR SLTCKTHSLS HRRAVPGRKK QFDLLLAEHK AKSREKEVKD
360 370 380 390 400
KEHLLTSTRE ILPSQSGPAQ DSLLGSSGSS GPEPKVASPA KSRPPNSVLP
410 420 430 440 450
RPSSANSISS STSSNHSGHT PEPPLPPVGG DLASRLSSDE GEMDGADESE
460 470 480 490 500
KLDCQFSTHH PRPLAFCSFG SRLMGRGYYV FDRRWDRFRF ALNSMVEKHL
510 520 530 540 550
NSQMWKKIPP AADSPLPSPA AHITTPVPAS VLQPFSNPSA VYLPSAPISS
560 570 580 590 600
RLTSSYIMTS AMLSNAAFVT SPDPSALMSH TTAFPHVAAT LSIMDSTFKA
610 620 630 640 650
PSAVSPIPAV IPSPSHKPSK TKTSKSSKVK DLSTRSDESP SNKKRKPQSS
660 670 680 690 700
TSSSSSSSSS SLQTSLSSPL SGPHKKNCVL NASSALNSYQ AAPPYNSLSV
710 720 730 740 750
HNSNNGVSPL SAKLEPSGRT SLPGGPADIV RQVGAVGGSS DSCPLSVPSL
760 770 780 790 800
ALHAGDLSLA SHNAVSSLPL SFDKSEGKKR KNSSSSSKAC KITKMPGMNS
810 820 830 840 850
VHKKNPPSLL APVPDPVNST SSRQVGKNSS LALSQSSPSS ISSPGHSRQN
860
TNRTGRIRTL P
Note: No experimental confirmation available.
Length:861
Mass (Da):91,514
Last modified:May 31, 2011 - v3
Checksum:iC4A20B5C1EBBEC66
GO
Isoform 2 (identifier: Q9ULK2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     119-146: ERRHGSMCRPSPSPVSPASNPRTSLVQV → GRKQDNRRNEGISRSGPESSQAIEKHQV
     147-861: Missing.

Note: No experimental confirmation available.
Show »
Length:146
Mass (Da):16,210
Checksum:i35867347BE6A81EC
GO
Isoform 3 (identifier: Q9ULK2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-124: Missing.
     849-849: Q → QK

Show »
Length:738
Mass (Da):77,874
Checksum:i5BBC4BE19EFB50BE
GO

Sequence cautioni

The sequence BAA86532 differs from that shown.Contaminating sequence. Sequence of unknown origin in the N-terminal part.Curated
The sequence BAA86532 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 124124Missing in isoform 3. 1 PublicationVSP_041344Add
BLAST
Alternative sequencei119 – 14628ERRHG…SLVQV → GRKQDNRRNEGISRSGPESS QAIEKHQV in isoform 2. 1 PublicationVSP_032351Add
BLAST
Alternative sequencei147 – 861715Missing in isoform 2. 1 PublicationVSP_032352Add
BLAST
Alternative sequencei849 – 8491Q → QK in isoform 3. 1 PublicationVSP_041345

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK300338 mRNA. Translation: BAG62083.1.
AC005099 Genomic DNA. No translation available.
AC007030 Genomic DNA. No translation available.
AC073073 Genomic DNA. No translation available.
CH236947 Genomic DNA. Translation: EAL24404.1.
CH471070 Genomic DNA. Translation: EAW83370.1.
BC030616 mRNA. Translation: AAH30616.1.
AB033044 mRNA. Translation: BAA86532.1. Sequence problems.
CCDSiCCDS34727.1. [Q9ULK2-2]
CCDS47682.1. [Q9ULK2-1]
CCDS47683.1. [Q9ULK2-3]
RefSeqiNP_065776.1. NM_020725.1. [Q9ULK2-1]
NP_612504.1. NM_138495.1. [Q9ULK2-3]
NP_689962.1. NM_152749.3. [Q9ULK2-2]
XP_011514242.1. XM_011515940.1. [Q9ULK2-1]
XP_011514256.1. XM_011515954.2. [Q9ULK2-2]
UniGeneiHs.745056.

Genome annotation databases

EnsembliENST00000318724; ENSP00000326344; ENSG00000146776. [Q9ULK2-2]
ENST00000419735; ENSP00000410759; ENSG00000146776. [Q9ULK2-1]
ENST00000477775; ENSP00000418476; ENSG00000146776. [Q9ULK2-3]
GeneIDi222255.
KEGGihsa:222255.
UCSCiuc003vde.3. human. [Q9ULK2-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK300338 mRNA. Translation: BAG62083.1.
AC005099 Genomic DNA. No translation available.
AC007030 Genomic DNA. No translation available.
AC073073 Genomic DNA. No translation available.
CH236947 Genomic DNA. Translation: EAL24404.1.
CH471070 Genomic DNA. Translation: EAW83370.1.
BC030616 mRNA. Translation: AAH30616.1.
AB033044 mRNA. Translation: BAA86532.1. Sequence problems.
CCDSiCCDS34727.1. [Q9ULK2-2]
CCDS47682.1. [Q9ULK2-1]
CCDS47683.1. [Q9ULK2-3]
RefSeqiNP_065776.1. NM_020725.1. [Q9ULK2-1]
NP_612504.1. NM_138495.1. [Q9ULK2-3]
NP_689962.1. NM_152749.3. [Q9ULK2-2]
XP_011514242.1. XM_011515940.1. [Q9ULK2-1]
XP_011514256.1. XM_011515954.2. [Q9ULK2-2]
UniGeneiHs.745056.

3D structure databases

ProteinModelPortaliQ9ULK2.
SMRiQ9ULK2. Positions 289-347.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128794. 7 interactions.
IntActiQ9ULK2. 4 interactions.
MINTiMINT-4714677.
STRINGi9606.ENSP00000410759.

PTM databases

iPTMnetiQ9ULK2.
PhosphoSiteiQ9ULK2.

Polymorphism and mutation databases

BioMutaiATXN7L1.
DMDMi334302929.

Proteomic databases

EPDiQ9ULK2.
MaxQBiQ9ULK2.
PaxDbiQ9ULK2.
PeptideAtlasiQ9ULK2.
PRIDEiQ9ULK2.

Protocols and materials databases

DNASUi222255.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000318724; ENSP00000326344; ENSG00000146776. [Q9ULK2-2]
ENST00000419735; ENSP00000410759; ENSG00000146776. [Q9ULK2-1]
ENST00000477775; ENSP00000418476; ENSG00000146776. [Q9ULK2-3]
GeneIDi222255.
KEGGihsa:222255.
UCSCiuc003vde.3. human. [Q9ULK2-1]

Organism-specific databases

CTDi222255.
GeneCardsiATXN7L1.
H-InvDBHIX0006979.
HGNCiHGNC:22210. ATXN7L1.
HPAiHPA021448.
neXtProtiNX_Q9ULK2.
PharmGKBiPA134884892.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4140. Eukaryota.
ENOG4111ZIZ. LUCA.
GeneTreeiENSGT00530000063215.
HOGENOMiHOG000252909.
HOVERGENiHBG004320.
InParanoidiQ9ULK2.
KOiK11318.
OMAiLVVCNIC.
OrthoDBiEOG091G0253.
PhylomeDBiQ9ULK2.
TreeFamiTF331337.

Miscellaneous databases

ChiTaRSiATXN7L1. human.
GenomeRNAii222255.
PROiQ9ULK2.

Gene expression databases

BgeeiENSG00000146776.
CleanExiHS_ATXN7L1.
ExpressionAtlasiQ9ULK2. baseline and differential.
GenevisibleiQ9ULK2. HS.

Family and domain databases

InterProiIPR013243. SCA7_dom.
[Graphical view]
PfamiPF08313. SCA7. 1 hit.
[Graphical view]
PROSITEiPS51505. SCA7. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAT7L1_HUMAN
AccessioniPrimary (citable) accession number: Q9ULK2
Secondary accession number(s): A4D0Q2, B4DTS1, Q8N2T0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 31, 2011
Last modified: September 7, 2016
This is version 110 of the entry and version 3 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 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families

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.