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Q5T6C5

- AT7L2_HUMAN

UniProt

Q5T6C5 - AT7L2_HUMAN

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Protein

Ataxin-7-like protein 2

Gene

ATXN7L2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 1 out of 5- Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Ataxin-7-like protein 2
Gene namesi
Name:ATXN7L2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:28713. ATXN7L2.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134927530.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 722722Ataxin-7-like protein 2PRO_0000278300Add
BLAST

Proteomic databases

MaxQBiQ5T6C5.
PaxDbiQ5T6C5.
PRIDEiQ5T6C5.

PTM databases

PhosphoSiteiQ5T6C5.

Expressioni

Gene expression databases

BgeeiQ5T6C5.
CleanExiHS_ATXN7L2.
ExpressionAtlasiQ5T6C5. baseline and differential.
GenevestigatoriQ5T6C5.

Organism-specific databases

HPAiHPA029827.
HPA054952.

Interactioni

Protein-protein interaction databases

BioGridi126028. 6 interactions.
IntActiQ5T6C5. 5 interactions.
MINTiMINT-2860321.
STRINGi9606.ENSP00000358886.

Structurei

3D structure databases

ProteinModelPortaliQ5T6C5.
SMRiQ5T6C5. Positions 235-293.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini230 – 29768SCA7PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 SCA7 domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG259256.
GeneTreeiENSGT00530000063215.
HOGENOMiHOG000294165.
HOVERGENiHBG058380.
InParanoidiQ5T6C5.
KOiK11318.
OMAiTLKSKAH.
OrthoDBiEOG7XSTDP.
PhylomeDBiQ5T6C5.
TreeFamiTF331337.

Family and domain databases

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

Sequencei

Sequence statusi: Complete.

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti495 – 4951P → S.
Corresponds to variant rs1149172 [ dbSNP | Ensembl ].
VAR_053780

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL355145 Genomic DNA. Translation: CAI22937.1.
CCDSiCCDS30794.1.
RefSeqiNP_699171.3. NM_153340.4.
UniGeneiHs.118248.

Genome annotation databases

EnsembliENST00000369870; ENSP00000358886; ENSG00000162650.
GeneIDi127002.
KEGGihsa:127002.
UCSCiuc001dxr.3. human.

Polymorphism databases

DMDMi74745198.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL355145 Genomic DNA. Translation: CAI22937.1 .
CCDSi CCDS30794.1.
RefSeqi NP_699171.3. NM_153340.4.
UniGenei Hs.118248.

3D structure databases

ProteinModelPortali Q5T6C5.
SMRi Q5T6C5. Positions 235-293.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 126028. 6 interactions.
IntActi Q5T6C5. 5 interactions.
MINTi MINT-2860321.
STRINGi 9606.ENSP00000358886.

PTM databases

PhosphoSitei Q5T6C5.

Polymorphism databases

DMDMi 74745198.

Proteomic databases

MaxQBi Q5T6C5.
PaxDbi Q5T6C5.
PRIDEi Q5T6C5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000369870 ; ENSP00000358886 ; ENSG00000162650 .
GeneIDi 127002.
KEGGi hsa:127002.
UCSCi uc001dxr.3. human.

Organism-specific databases

CTDi 127002.
GeneCardsi GC01P110026.
HGNCi HGNC:28713. ATXN7L2.
HPAi HPA029827.
HPA054952.
neXtProti NX_Q5T6C5.
PharmGKBi PA134927530.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG259256.
GeneTreei ENSGT00530000063215.
HOGENOMi HOG000294165.
HOVERGENi HBG058380.
InParanoidi Q5T6C5.
KOi K11318.
OMAi TLKSKAH.
OrthoDBi EOG7XSTDP.
PhylomeDBi Q5T6C5.
TreeFami TF331337.

Miscellaneous databases

GenomeRNAii 127002.
NextBioi 81975.
PROi Q5T6C5.

Gene expression databases

Bgeei Q5T6C5.
CleanExi HS_ATXN7L2.
ExpressionAtlasi Q5T6C5. baseline and differential.
Genevestigatori Q5T6C5.

Family and domain databases

InterProi IPR013243. SCA7_dom.
[Graphical view ]
Pfami PF08313. SCA7. 1 hit.
[Graphical view ]
PROSITEi PS51505. SCA7. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  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.
    , 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].

Entry informationi

Entry nameiAT7L2_HUMAN
AccessioniPrimary (citable) accession number: Q5T6C5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: December 21, 2004
Last modified: October 29, 2014
This is version 69 of the entry and version 1 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 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
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3