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Protein

Ankyrin repeat and SOCS box protein 10

Gene

ASB10

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

Functioni

May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.By similarity

Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Ubl conjugation pathway

Enzyme and pathway databases

BioCyciZFISH:ENSG00000146926-MONOMER.
ReactomeiR-HSA-983168. Antigen processing: Ubiquitination & Proteasome degradation.
UniPathwayiUPA00143.

Names & Taxonomyi

Protein namesi
Recommended name:
Ankyrin repeat and SOCS box protein 10
Short name:
ASB-10
Gene namesi
Name:ASB10
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:17185. ASB10.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • nucleus Source: UniProtKB
  • ubiquitin ligase complex Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Glaucoma 1, open angle, F (GLC1F)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place.
See also OMIM:603383
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06986748T → S in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs151344615dbSNPEnsembl.1
Natural variantiVAR_06986865G → E in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs104886491dbSNPEnsembl.1
Natural variantiVAR_06986967V → M in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs151344616dbSNPEnsembl.1
Natural variantiVAR_06987072R → H in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs104886488dbSNPEnsembl.1
Natural variantiVAR_06987394R → Q in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs147737381dbSNPEnsembl.1
Natural variantiVAR_06987497D → E in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs151344619dbSNPEnsembl.1
Natural variantiVAR_069876183R → C in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs151344605dbSNPEnsembl.1
Natural variantiVAR_069878197A → V in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs151344607dbSNPEnsembl.1
Natural variantiVAR_069879207V → L in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs104886474dbSNPEnsembl.1
Natural variantiVAR_069881272R → H in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs140602973dbSNPEnsembl.1
Natural variantiVAR_069882295Q → L in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs151344609dbSNPEnsembl.1
Natural variantiVAR_069884320A → T in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs151344610dbSNPEnsembl.1
Natural variantiVAR_069886332H → Q in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs104886482dbSNPEnsembl.1
Natural variantiVAR_069887356H → Y in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs151344611dbSNPEnsembl.1
Natural variantiVAR_069888360R → H in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs151344612dbSNPEnsembl.1
Natural variantiVAR_069891440S → G in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs104886487dbSNPEnsembl.1
Isoform 3 (identifier: Q8WXI3-3)
Natural varianti19P → S in GLC1F, uncertain pathological significance. 1 Publication1
Natural varianti32R → S in GLC1F, uncertain pathological significance. 1 Publication1
Natural varianti39R → Q in GLC1F, uncertain pathological significance. 1 Publication1

Keywords - Diseasei

Disease mutation, Glaucoma

Organism-specific databases

DisGeNETi136371.
MalaCardsiASB10.
MIMi603383. phenotype.
OpenTargetsiENSG00000146926.
Orphaneti353225. Primary adult open-angle glaucoma.
PharmGKBiPA25028.

Polymorphism and mutation databases

BioMutaiASB10.
DMDMi126302522.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000669421 – 467Ankyrin repeat and SOCS box protein 10Add BLAST467

Proteomic databases

PaxDbiQ8WXI3.
PRIDEiQ8WXI3.

PTM databases

iPTMnetiQ8WXI3.
PhosphoSitePlusiQ8WXI3.

Expressioni

Tissue specificityi

Expressed in the eye. The highest expression is observed in the iris, with moderate levels in the trabecular meshwork (TM), the lamina, and the optic nerve; slightly lower levels in the ciliary body, retina, and choroid; and very low levels in the lens.1 Publication

Gene expression databases

BgeeiENSG00000146926.
CleanExiHS_ASB10.
ExpressionAtlasiQ8WXI3. baseline and differential.
GenevisibleiQ8WXI3. HS.

Organism-specific databases

HPAiHPA004178.

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi126459. 27 interactors.
IntActiQ8WXI3. 5 interactors.
MINTiMINT-8417603.
STRINGi9606.ENSP00000391137.

Structurei

3D structure databases

ProteinModelPortaliQ8WXI3.
SMRiQ8WXI3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati115 – 144ANK 1Add BLAST30
Repeati147 – 176ANK 2Add BLAST30
Repeati180 – 209ANK 3Add BLAST30
Repeati214 – 243ANK 4Add BLAST30
Repeati247 – 289ANK 5Add BLAST43
Repeati293 – 322ANK 6Add BLAST30
Repeati326 – 361ANK 7Add BLAST36
Domaini412 – 464SOCS boxPROSITE-ProRule annotationAdd BLAST53

Domaini

The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin-protein ligase complexes.By similarity

Sequence similaritiesi

Belongs to the ankyrin SOCS box (ASB) family.Curated
Contains 7 ANK repeats.PROSITE-ProRule annotation
Contains 1 SOCS box domain.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00390000011960.
HOGENOMiHOG000232066.
HOVERGENiHBG073573.
InParanoidiQ8WXI3.
KOiK10332.
OMAiLHLCQGA.
OrthoDBiEOG091G0711.
PhylomeDBiQ8WXI3.
TreeFamiTF323921.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR001496. SOCS_box.
[Graphical view]
PfamiPF12796. Ank_2. 3 hits.
PF07525. SOCS_box. 1 hit.
[Graphical view]
PRINTSiPR01415. ANKYRIN.
SMARTiSM00248. ANK. 7 hits.
SM00969. SOCS_box. 1 hit.
[Graphical view]
SUPFAMiSSF158235. SSF158235. 1 hit.
SSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 5 hits.
PS50225. SOCS. 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: Q8WXI3-1) [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
MLMSWSPEEC KGQGEPLDDR HPLCARLVEK PSRGSEEHLK SGPGPIVTRT
60 70 80 90 100
ASGPALAFWQ AVLAGDVGCV SRILADSSTG LAPDSVFDTS DPERWRDFRF
110 120 130 140 150
NIRALRLWSL TYEEELTTPL HVAASRGHTE VLRLLLRRRA RPDSAPGGRT
160 170 180 190 200
ALHEACAAGH TACVHVLLVA GADPNIADQD GKRPLHLCRG PGTLECAELL
210 220 230 240 250
LRFGARVDGR SEEEEETPLH VAARLGHVEL ADLLLRRGAC PDARNAEGWT
260 270 280 290 300
PLLAACDVRC QSITDAEATT ARCLQLCSLL LSAGADADAA DQDKQRPLHL
310 320 330 340 350
ACRRGHAAVV ELLLSCGVSA NTMDYGGHTP LHCALQGPAA ALAQSPEHVV
360 370 380 390 400
RALLNHGAVR VWPGALPKVL ERWSTCPRTI EVLMNTYSVV QLPEEAVGLV
410 420 430 440 450
TPETLQKHQR FYSSLFALVR QPRSLQHLSR CALRSHLEGS LPQALPRLPL
460
PPRLLRYLQL DFEGVLY
Length:467
Mass (Da):50,894
Last modified:February 20, 2007 - v2
Checksum:i7C92C07B154479DE
GO
Isoform 2 (identifier: Q8WXI3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     369-406: Missing.

Show »
Length:429
Mass (Da):46,609
Checksum:i56019889B7BD50DE
GO
Isoform 3 (identifier: Q8WXI3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-106: MLMSWSPEEC...DFRFNIRALR → MPWGKNSSPH...EPRWSSHQRG

Show »
Length:452
Mass (Da):49,565
Checksum:i50FF121D0A2B4A2C
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti421Q → R in BAC86204 (PubMed:14702039).Curated1
Sequence conflicti433L → P in BAC86204 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06986748T → S in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs151344615dbSNPEnsembl.1
Natural variantiVAR_06986865G → E in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs104886491dbSNPEnsembl.1
Natural variantiVAR_06986967V → M in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs151344616dbSNPEnsembl.1
Natural variantiVAR_06987072R → H in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs104886488dbSNPEnsembl.1
Natural variantiVAR_06987188D → V.1 PublicationCorresponds to variant rs151344617dbSNPEnsembl.1
Natural variantiVAR_06987291D → Y.1 PublicationCorresponds to variant rs104886490dbSNPEnsembl.1
Natural variantiVAR_06987394R → Q in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs147737381dbSNPEnsembl.1
Natural variantiVAR_06987497D → E in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs151344619dbSNPEnsembl.1
Natural variantiVAR_069875172A → V.1 PublicationCorresponds to variant rs151344604dbSNPEnsembl.1
Natural variantiVAR_069876183R → C in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs151344605dbSNPEnsembl.1
Natural variantiVAR_069877189R → W.1 PublicationCorresponds to variant rs104886473dbSNPEnsembl.1
Natural variantiVAR_069878197A → V in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs151344607dbSNPEnsembl.1
Natural variantiVAR_069879207V → L in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs104886474dbSNPEnsembl.1
Natural variantiVAR_069880237R → G.1 PublicationCorresponds to variant rs61735708dbSNPEnsembl.1
Natural variantiVAR_069881272R → H in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs140602973dbSNPEnsembl.1
Natural variantiVAR_069882295Q → L in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs151344609dbSNPEnsembl.1
Natural variantiVAR_069883304R → C.1 PublicationCorresponds to variant rs61735130dbSNPEnsembl.1
Natural variantiVAR_069884320A → T in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs151344610dbSNPEnsembl.1
Natural variantiVAR_069885329T → M.1 PublicationCorresponds to variant rs104886481dbSNPEnsembl.1
Natural variantiVAR_069886332H → Q in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs104886482dbSNPEnsembl.1
Natural variantiVAR_069887356H → Y in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs151344611dbSNPEnsembl.1
Natural variantiVAR_069888360R → H in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs151344612dbSNPEnsembl.1
Natural variantiVAR_069889372R → C.1 PublicationCorresponds to variant rs62489646dbSNPEnsembl.1
Natural variantiVAR_069890402P → T.1 PublicationCorresponds to variant rs919533dbSNPEnsembl.1
Natural variantiVAR_069891440S → G in GLC1F; uncertain pathological significance. 1 PublicationCorresponds to variant rs104886487dbSNPEnsembl.1
Natural variantiVAR_022090453R → C.1 PublicationCorresponds to variant rs3800791dbSNPEnsembl.1
Isoform 3 (identifier: Q8WXI3-3)
Natural varianti19P → S in GLC1F, uncertain pathological significance. 1 Publication1
Natural varianti32R → S in GLC1F, uncertain pathological significance. 1 Publication1
Natural varianti39R → Q in GLC1F, uncertain pathological significance. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0389971 – 106MLMSW…IRALR → MPWGKNSSPHWGHHLGCLPS APACRIWRPHSRPAWEPPRP SPLLCQDMALQNALYTGDLA RLQELFPPHSTADLLLESRA AEPRWSSHQRG in isoform 3. 1 PublicationAdd BLAST106
Alternative sequenceiVSP_023357369 – 406Missing in isoform 2. 1 PublicationAdd BLAST38

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF417920 mRNA. Translation: AAL59159.1.
AK125565 mRNA. Translation: BAC86204.1.
AC010973 Genomic DNA. No translation available.
BC126351 mRNA. Translation: AAI26352.1.
CCDSiCCDS47749.2. [Q8WXI3-2]
CCDS47750.2. [Q8WXI3-1]
CCDS5921.2. [Q8WXI3-3]
RefSeqiNP_001135931.2. NM_001142459.1. [Q8WXI3-1]
NP_001135932.2. NM_001142460.1. [Q8WXI3-2]
NP_543147.2. NM_080871.3. [Q8WXI3-3]
UniGeneiHs.647081.

Genome annotation databases

EnsembliENST00000275838; ENSP00000275838; ENSG00000146926. [Q8WXI3-2]
ENST00000377867; ENSP00000367098; ENSG00000146926. [Q8WXI3-3]
ENST00000420175; ENSP00000391137; ENSG00000146926. [Q8WXI3-1]
GeneIDi136371.
KEGGihsa:136371.
UCSCiuc003wjl.1. human. [Q8WXI3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF417920 mRNA. Translation: AAL59159.1.
AK125565 mRNA. Translation: BAC86204.1.
AC010973 Genomic DNA. No translation available.
BC126351 mRNA. Translation: AAI26352.1.
CCDSiCCDS47749.2. [Q8WXI3-2]
CCDS47750.2. [Q8WXI3-1]
CCDS5921.2. [Q8WXI3-3]
RefSeqiNP_001135931.2. NM_001142459.1. [Q8WXI3-1]
NP_001135932.2. NM_001142460.1. [Q8WXI3-2]
NP_543147.2. NM_080871.3. [Q8WXI3-3]
UniGeneiHs.647081.

3D structure databases

ProteinModelPortaliQ8WXI3.
SMRiQ8WXI3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126459. 27 interactors.
IntActiQ8WXI3. 5 interactors.
MINTiMINT-8417603.
STRINGi9606.ENSP00000391137.

PTM databases

iPTMnetiQ8WXI3.
PhosphoSitePlusiQ8WXI3.

Polymorphism and mutation databases

BioMutaiASB10.
DMDMi126302522.

Proteomic databases

PaxDbiQ8WXI3.
PRIDEiQ8WXI3.

Protocols and materials databases

DNASUi136371.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000275838; ENSP00000275838; ENSG00000146926. [Q8WXI3-2]
ENST00000377867; ENSP00000367098; ENSG00000146926. [Q8WXI3-3]
ENST00000420175; ENSP00000391137; ENSG00000146926. [Q8WXI3-1]
GeneIDi136371.
KEGGihsa:136371.
UCSCiuc003wjl.1. human. [Q8WXI3-1]

Organism-specific databases

CTDi136371.
DisGeNETi136371.
GeneCardsiASB10.
HGNCiHGNC:17185. ASB10.
HPAiHPA004178.
MalaCardsiASB10.
MIMi603383. phenotype.
615054. gene.
neXtProtiNX_Q8WXI3.
OpenTargetsiENSG00000146926.
Orphaneti353225. Primary adult open-angle glaucoma.
PharmGKBiPA25028.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00390000011960.
HOGENOMiHOG000232066.
HOVERGENiHBG073573.
InParanoidiQ8WXI3.
KOiK10332.
OMAiLHLCQGA.
OrthoDBiEOG091G0711.
PhylomeDBiQ8WXI3.
TreeFamiTF323921.

Enzyme and pathway databases

UniPathwayiUPA00143.
BioCyciZFISH:ENSG00000146926-MONOMER.
ReactomeiR-HSA-983168. Antigen processing: Ubiquitination & Proteasome degradation.

Miscellaneous databases

GenomeRNAii136371.
PROiQ8WXI3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000146926.
CleanExiHS_ASB10.
ExpressionAtlasiQ8WXI3. baseline and differential.
GenevisibleiQ8WXI3. HS.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR001496. SOCS_box.
[Graphical view]
PfamiPF12796. Ank_2. 3 hits.
PF07525. SOCS_box. 1 hit.
[Graphical view]
PRINTSiPR01415. ANKYRIN.
SMARTiSM00248. ANK. 7 hits.
SM00969. SOCS_box. 1 hit.
[Graphical view]
SUPFAMiSSF158235. SSF158235. 1 hit.
SSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 5 hits.
PS50225. SOCS. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiASB10_HUMAN
AccessioniPrimary (citable) accession number: Q8WXI3
Secondary accession number(s): A0AVH0, Q6ZUL6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 10, 2002
Last sequence update: February 20, 2007
Last modified: November 30, 2016
This is version 133 of the entry and version 2 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. 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. 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.