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Q5T6C5 (AT7L2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 67. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Ataxin-7-like protein 2
Gene names
Name:ATXN7L2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length722 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Sequence similarities

Contains 1 SCA7 domain.

Ontologies

Keywords
   Coding sequence diversityPolymorphism
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 722722Ataxin-7-like protein 2
PRO_0000278300

Regions

Domain230 – 29768SCA7

Natural variations

Natural variant4951P → S.
Corresponds to variant rs1149172 [ dbSNP | Ensembl ].
VAR_053780

Sequences

Sequence LengthMass (Da)Tools
Q5T6C5 [UniParc].

Last modified December 21, 2004. Version 1.
Checksum: EAEF2D380B475A8D

FASTA72277,181
        10         20         30         40         50         60 
MAVRERAAAA MAALERRVPS LDDFAGQSWS SWVERADLPA ADGAELEESS KNTKKLDAMT 

        70         80         90        100        110        120 
LIKEDMSIFG HCPAHDDFYL VVCNHCSQVV KPQAFQKHCE RRHGPLSKLY GRAPPPPPAP 

       130        140        150        160        170        180 
ASSQKCHVVN GQGPACRAPG STKTSSREKG QGSRSRGHQP PEKTQKDNLC QPGGLTKDSP 

       190        200        210        220        230        240 
GKPPMAPPSK EPPGRENIEI IPSEGSSHWA EGSPPEKEPS GTRLPPKTHR KMARKECDLN 

       250        260        270        280        290        300 
RQCGVINPET KKICTRLLTC KIHSVHQRRE VQGRAKDFDV LVAELKANSR KGESPKEKSP 

       310        320        330        340        350        360 
GRKEQVLERP SQELPSSVQV VAAVAAPSST FSVRAKQTYP YCALPRSRAS SESELDDEGP 

       370        380        390        400        410        420 
CGGDGDPGLF PFPMPRGGTQ ASSEESEEEG TSDDLHPPPD CHYATRPPRP QAFCTFGSRL 

       430        440        450        460        470        480 
VSPGCYVFSR RLDRFCSALS SMLERHLSTH MWKKIPPAAE PPAHLVNSPL SAPLSPSSTG 

       490        500        510        520        530        540 
TCPRLPGPTL RPACPASMPP TKDNLVPSYP AGSPSVAAAC SQAECMGGSQ AITSPLPANT 

       550        560        570        580        590        600 
PSPSFSKLPP SKASKSSKGK DGVEVEAPSR KRKLSPGPTT LKRTCILEPT GKGKPSGCRG 

       610        620        630        640        650        660 
LSAKTKTALS MGLNGTMGPR VKRAGPLDCR GSPHQLPTPV KASQLENRGA AGHPAKALPT 

       670        680        690        700        710        720 
NCLSEEEVAK KRKNLATYCR PVKAKHCQAG APADVACSVR RKKPGPALAF EEKCSTLKSK 


AH 

« Hide

References

[1]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AL355145 Genomic DNA. Translation: CAI22937.1.
CCDSCCDS30794.1.
RefSeqNP_699171.3. NM_153340.4.
UniGeneHs.118248.

3D structure databases

ProteinModelPortalQ5T6C5.
SMRQ5T6C5. Positions 235-293.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid126028. 5 interactions.
IntActQ5T6C5. 5 interactions.
MINTMINT-2860321.
STRING9606.ENSP00000358886.

PTM databases

PhosphoSiteQ5T6C5.

Polymorphism databases

DMDM74745198.

Proteomic databases

MaxQBQ5T6C5.
PaxDbQ5T6C5.
PRIDEQ5T6C5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000369870; ENSP00000358886; ENSG00000162650.
GeneID127002.
KEGGhsa:127002.
UCSCuc001dxr.3. human.

Organism-specific databases

CTD127002.
GeneCardsGC01P110026.
HGNCHGNC:28713. ATXN7L2.
HPAHPA029827.
HPA054952.
neXtProtNX_Q5T6C5.
PharmGKBPA134927530.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG259256.
HOGENOMHOG000294165.
HOVERGENHBG058380.
InParanoidQ5T6C5.
KOK11318.
OMATLKSKAH.
OrthoDBEOG7XSTDP.
PhylomeDBQ5T6C5.
TreeFamTF331337.

Gene expression databases

ArrayExpressQ5T6C5.
BgeeQ5T6C5.
CleanExHS_ATXN7L2.
GenevestigatorQ5T6C5.

Family and domain databases

InterProIPR013243. SCA7_dom.
[Graphical view]
PfamPF08313. SCA7. 1 hit.
[Graphical view]
PROSITEPS51505. SCA7. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi127002.
NextBio81975.
PROQ5T6C5.

Entry information

Entry nameAT7L2_HUMAN
AccessionPrimary (citable) accession number: Q5T6C5
Entry history
Integrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: December 21, 2004
Last modified: July 9, 2014
This is version 67 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM