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Protein

Sine oculis-binding protein homolog

Gene

SOBP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Implicated in development of the cochlea.By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri142 – 180FCS-type 1Sequence analysisAdd BLAST39
Zinc fingeri216 – 256FCS-type 2Sequence analysisAdd BLAST41

GO - Molecular functioni

GO - Biological processi

  • cochlea development Source: Ensembl
  • cognition Source: HGNC
  • inner ear morphogenesis Source: Ensembl
  • locomotory behavior Source: Ensembl
  • sensory perception of sound Source: Ensembl
Complete GO annotation...

Keywords - Ligandi

Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Sine oculis-binding protein homolog
Alternative name(s):
Jackson circler protein 1
Gene namesi
Name:SOBPImported
Synonyms:JXC1Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:29256. SOBP.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Mental retardation, anterior maxillary protrusion, and strabismus (MRAMS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by severe mental retardation, strabismus and dysmorphic features such as anterior maxillary protrusion with vertical maxillary excess, open bite and prominent crowded teeth. Some patients may lack dysmorphic features and manifest temporal lobe epilepsy and psychosis. Esotropia and amblyopia are present in some individuals.
See also OMIM:613671

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNETi55084.
MalaCardsiSOBP.
MIMi613671. phenotype.
OpenTargetsiENSG00000112320.
PharmGKBiPA162404346.

Polymorphism and mutation databases

BioMutaiSOBP.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003122321 – 873Sine oculis-binding protein homologAdd BLAST873

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei629PhosphoserineBy similarity1
Modified residuei699PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiA7XYQ1.
PaxDbiA7XYQ1.
PRIDEiA7XYQ1.

PTM databases

iPTMnetiA7XYQ1.
PhosphoSitePlusiA7XYQ1.

Expressioni

Gene expression databases

BgeeiENSG00000112320.
CleanExiHS_SOBP.
ExpressionAtlasiA7XYQ1. baseline and differential.
GenevisibleiA7XYQ1. HS.

Organism-specific databases

HPAiHPA029242.

Interactioni

Subunit structurei

Interacts (via SIM domains) with SUMO1 and SUMO2.1 Publication

Protein-protein interaction databases

BioGridi120399. 3 interactors.
IntActiA7XYQ1. 2 interactors.
MINTiMINT-6778579.
STRINGi9606.ENSP00000318900.

Structurei

3D structure databases

ProteinModelPortaliA7XYQ1.
SMRiA7XYQ1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi620 – 624SUMO interaction motif 1 (SIM); mediates the binding to polysumoylated substrates5
Motifi653 – 657SUMO interaction motif 2 (SIM); mediates the binding to polysumoylated substrates5

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi346 – 552Pro-richSequence analysisAdd BLAST207
Compositional biasi740 – 763Pro-richSequence analysisAdd BLAST24

Sequence similaritiesi

Belongs to the SOBP family.Sequence analysis
Contains 2 FCS-type zinc fingers.Sequence analysis

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri142 – 180FCS-type 1Sequence analysisAdd BLAST39
Zinc fingeri216 – 256FCS-type 2Sequence analysisAdd BLAST41

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiENOG410IEAE. Eukaryota.
ENOG4111QQS. LUCA.
GeneTreeiENSGT00730000111043.
HOGENOMiHOG000008673.
HOVERGENiHBG062766.
InParanoidiA7XYQ1.
OMAiEHGRSEV.
OrthoDBiEOG091G040K.
PhylomeDBiA7XYQ1.
TreeFamiTF324359.

Family and domain databases

InterProiIPR026092. RAI2/SOBP.
[Graphical view]
PANTHERiPTHR23186. PTHR23186. 2 hits.
PfamiPF15279. SOBP. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

A7XYQ1-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAEMEKEGRP PENKRSRKPA HPVKREINEE MKNFAENTMN ELLGWYGYDK
60 70 80 90 100
VELKDGEDIE FRSYPTDGES RQHISVLKEN SLPKPKLPED SVISPYNIST
110 120 130 140 150
GYSGLATGNG LSDSPAGSKD HGSVPIIVPL IPPPFIKPPA EDDVSNVQIM
160 170 180 190 200
CAWCQKVGIK RYSLSMGSEV KSFCSEKCFA ACRRAYFKRN KARDEDGHAE
210 220 230 240 250
NFPQQHYAKE TPRLAFKNNC ELLVCDWCKH IRHTKEYLDF GDGERRLQFC
260 270 280 290 300
SAKCLNQYKM DIFYKETQAN LPAGLCSTLH PPMENKAEGT GVQLLTPDSW
310 320 330 340 350
NIPLTDARRK APSPVATAGQ SQGPGPSAST TVSPSDTANC SVTKIPTPVP
360 370 380 390 400
KSIPISETPN IPPVSVQPPA SIGPPLGVPP RSPPMVMTNR GPVPLPIFME
410 420 430 440 450
QQIMQQIRPP FIRGPPHHAS NPNSPLSNPM LPGIGPPPGG PRNLGPTSSP
460 470 480 490 500
MHRPMLSPHI HPPSTPTMPG NPPGLLPPPP PGAPLPSLPF PPVSMMPNGP
510 520 530 540 550
MPVPQMMNFG LPSLAPLVPP PTLLVPYPVI VPLPVPIPIP IPIPHVSDSK
560 570 580 590 600
PPNGFSSNGE NFIPNAPGDS AAAGGKPSGH SLSPRDSKQG SSKSADSPPG
610 620 630 640 650
CSGQALSLAP TPAEHGRSEV VDLTRRAGSP PGPPGAGGQL GFPGVLQGPQ
660 670 680 690 700
DGVIDLTVGH RARLHNVIHR ALHAHVKAER EPSAAERRTC GGCRDGHCSP
710 720 730 740 750
PAAGDPGPGA PAGPEAAAAC NVIVNGTRGA AAEGAKSAEP PPEQPPPPPP
760 770 780 790 800
PAPPKKLLSP EEPAVSELES VKENNCASNC HLDGEAAKKL MGEEALAGGD
810 820 830 840 850
KSDPNLNNPA DEDHAYALRM LPKTGCVIQP VPKPAEKAAM APCIISSPML
860 870
SAGPEDLEPP LKRRCLRIRN QNK
Length:873
Mass (Da):92,658
Last modified:September 23, 2008 - v2
Checksum:i894DEF718F6E0CB0
GO

Sequence cautioni

The sequence AAH91526 differs from that shown. Intron retention.Curated
The sequence BAC03537 differs from that shown. Intron retention.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti623L → M in ABF72848 (Ref. 1) Curated1
Sequence conflicti646L → M in ABF72848 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_062215683S → G.1 PublicationCorresponds to variant rs9486659dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ507800 mRNA. Translation: ABF72848.1.
AL096816, AL121957, AL671934 Genomic DNA. Translation: CAQ08124.1.
AL671934, AL096816, AL121957 Genomic DNA. Translation: CAQ10205.1.
AL121957, AL096816, AL671934 Genomic DNA. Translation: CAQ10380.1.
AK090879 mRNA. Translation: BAC03537.1. Sequence problems.
BC091526 mRNA. Translation: AAH91526.2. Sequence problems.
CCDSiCCDS43488.1.
RefSeqiNP_060483.3. NM_018013.3.
UniGeneiHs.445244.

Genome annotation databases

EnsembliENST00000317357; ENSP00000318900; ENSG00000112320.
GeneIDi55084.
KEGGihsa:55084.
UCSCiuc003prx.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ507800 mRNA. Translation: ABF72848.1.
AL096816, AL121957, AL671934 Genomic DNA. Translation: CAQ08124.1.
AL671934, AL096816, AL121957 Genomic DNA. Translation: CAQ10205.1.
AL121957, AL096816, AL671934 Genomic DNA. Translation: CAQ10380.1.
AK090879 mRNA. Translation: BAC03537.1. Sequence problems.
BC091526 mRNA. Translation: AAH91526.2. Sequence problems.
CCDSiCCDS43488.1.
RefSeqiNP_060483.3. NM_018013.3.
UniGeneiHs.445244.

3D structure databases

ProteinModelPortaliA7XYQ1.
SMRiA7XYQ1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120399. 3 interactors.
IntActiA7XYQ1. 2 interactors.
MINTiMINT-6778579.
STRINGi9606.ENSP00000318900.

PTM databases

iPTMnetiA7XYQ1.
PhosphoSitePlusiA7XYQ1.

Polymorphism and mutation databases

BioMutaiSOBP.

Proteomic databases

MaxQBiA7XYQ1.
PaxDbiA7XYQ1.
PRIDEiA7XYQ1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000317357; ENSP00000318900; ENSG00000112320.
GeneIDi55084.
KEGGihsa:55084.
UCSCiuc003prx.4. human.

Organism-specific databases

CTDi55084.
DisGeNETi55084.
GeneCardsiSOBP.
H-InvDBHIX0006109.
HGNCiHGNC:29256. SOBP.
HPAiHPA029242.
MalaCardsiSOBP.
MIMi613667. gene.
613671. phenotype.
neXtProtiNX_A7XYQ1.
OpenTargetsiENSG00000112320.
PharmGKBiPA162404346.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEAE. Eukaryota.
ENOG4111QQS. LUCA.
GeneTreeiENSGT00730000111043.
HOGENOMiHOG000008673.
HOVERGENiHBG062766.
InParanoidiA7XYQ1.
OMAiEHGRSEV.
OrthoDBiEOG091G040K.
PhylomeDBiA7XYQ1.
TreeFamiTF324359.

Miscellaneous databases

ChiTaRSiSOBP. human.
GeneWikiiSobp.
GenomeRNAii55084.
PROiA7XYQ1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112320.
CleanExiHS_SOBP.
ExpressionAtlasiA7XYQ1. baseline and differential.
GenevisibleiA7XYQ1. HS.

Family and domain databases

InterProiIPR026092. RAI2/SOBP.
[Graphical view]
PANTHERiPTHR23186. PTHR23186. 2 hits.
PfamiPF15279. SOBP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSOBP_HUMAN
AccessioniPrimary (citable) accession number: A7XYQ1
Secondary accession number(s): B0QZ12, Q5BJD4, Q8N2B2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: September 23, 2008
Last modified: November 2, 2016
This is version 74 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 6
    Human chromosome 6: 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. 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.