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UniProtKB - Q9BYB0 (SHAN3_HUMAN)

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Protein

SH3 and multiple ankyrin repeat domains protein 3

Gene

SHANK3

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

Functioni

Major scaffold postsynaptic density protein which interacts with multiple proteins and complexes to orchestrate the dendritic spine and synapse formation, maturation and maintenance. Interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors via complexes with GKAP/PSD-95 and HOMER, respectively, and the actin-based cytoskeleton. Plays a role in the structural and functional organization of the dendritic spine and synaptic junction through the interaction with Arp2/3 and WAVE1 complex as well as the promotion of the F-actin clusters. By way of this control of actin dynamics, participates in the regulation of developing neurons growth cone motility and the NMDA receptor-signaling. Also modulates GRIA1 exocytosis and GRM5/MGLUR5 expression and signaling to control the AMPA and metabotropic glutamate receptor-mediated synaptic transmission and plasticity. May be required at an early stage of synapse formation and be inhibited by IGF1 to promote synapse maturation.1 Publication

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

  • adult behavior Source: BHF-UCL
  • AMPA glutamate receptor clustering Source: BHF-UCL
  • axon guidance Source: Reactome
  • brain morphogenesis Source: BHF-UCL
  • dendritic spine morphogenesis Source: BHF-UCL
  • guanylate kinase-associated protein clustering Source: BHF-UCL
  • learning Source: BHF-UCL
  • MAPK cascade Source: BHF-UCL
  • memory Source: BHF-UCL
  • negative regulation of actin filament bundle assembly Source: BHF-UCL
  • negative regulation of cell volume Source: BHF-UCL
  • NMDA glutamate receptor clustering Source: BHF-UCL
  • positive regulation of AMPA receptor activity Source: BHF-UCL
  • positive regulation of dendritic spine development Source: BHF-UCL
  • positive regulation of excitatory postsynaptic potential Source: BHF-UCL
  • positive regulation of glutamate receptor signaling pathway Source: BHF-UCL
  • positive regulation of long-term neuronal synaptic plasticity Source: BHF-UCL
  • positive regulation of long-term synaptic potentiation Source: BHF-UCL
  • positive regulation of synapse structural plasticity Source: BHF-UCL
  • positive regulation of synaptic transmission, glutamatergic Source: BHF-UCL
  • postsynaptic density assembly Source: BHF-UCL
  • regulation of dendritic spine morphogenesis Source: BHF-UCL
  • regulation of long term synaptic depression Source: BHF-UCL
  • regulation of long-term synaptic potentiation Source: BHF-UCL
  • social behavior Source: BHF-UCL
  • striatal medium spiny neuron differentiation Source: BHF-UCL
  • synapse assembly Source: BHF-UCL
  • vocalization behavior Source: BHF-UCL
  • vocal learning Source: BHF-UCL
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionActin-binding

Enzyme and pathway databases

ReactomeiR-HSA-6794361 Neurexins and neuroligins
R-HSA-8853659 RET signaling
SignaLinkiQ9BYB0

Names & Taxonomyi

Protein namesi
Recommended name:
SH3 and multiple ankyrin repeat domains protein 3
Short name:
Shank3
Alternative name(s):
Proline-rich synapse-associated protein 2
Short name:
ProSAP2
Gene namesi
Name:SHANK3
Synonyms:KIAA1650, PROSAP2, PSAP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Unplaced

Organism-specific databases

HGNCiHGNC:14294 SHANK3
MIMi606230 gene
neXtProtiNX_Q9BYB0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Cytoplasm, Membrane, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving SHANK3 is found in patients with chromosome 22q13.3 deletion syndrome. Translocation t(12;22)(q24.1;q13.3) with APPL2/DIP13B.1 Publication
Defects in SHANK3 are associated with neuropsychiatric disorders such as autism spectrum disorders (ASD), bipolar affective disorders and early dementia onset. ASD are characterized by impairments in reciprocal social interaction and communication as well as restricted and stereotyped patterns of interest and activities. ASD include forms with moderate to severe cognitive impairment and milder forms with higher cognitive ability (Asperger syndrome). Gene duplication is associated with hyperkinetic neuropsychiatric disorders (PubMed:24153177) such as hyperactivity, auditory overstimulation, epilepsy and bipolar affective disorders, among others.1 Publication
Phelan-McDermid syndrome (PHMDS)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior, and minor dysmorphic features.
See also OMIM:606232
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070259141P → A in PHMDS. 1 PublicationCorresponds to variant dbSNP:rs397514705EnsemblClinVar.1
Natural variantiVAR_0702701452A → S in PHMDS. 1 Publication1
Schizophrenia 15 (SCZD15)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder.
See also OMIM:613950
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065800536R → W in SCZD15. 1 PublicationCorresponds to variant dbSNP:rs387906933EnsemblClinVar.1

Keywords - Diseasei

Autism spectrum disorder, Disease mutation, Schizophrenia

Organism-specific databases

DisGeNETi85358
GeneReviewsiSHANK3
MalaCardsiSHANK3
MIMi606232 phenotype
613950 phenotype
Orphaneti106 Autism
48652 Monosomy 22q13
3140 Schizophrenia

Polymorphism and mutation databases

BioMutaiSHANK3
DMDMi148887434

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001746751 – 1731SH3 and multiple ankyrin repeat domains protein 3Add BLAST1731

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei122PhosphotyrosineBy similarity1
Modified residuei373PhosphoserineBy similarity1
Modified residuei375PhosphoserineBy similarity1
Modified residuei388PhosphoserineBy similarity1
Modified residuei395PhosphoserineBy similarity1
Modified residuei483PhosphoserineBy similarity1
Modified residuei556PhosphotyrosineBy similarity1
Modified residuei695PhosphoserineBy similarity1
Modified residuei782PhosphoserineBy similarity1
Modified residuei791PhosphoserineBy similarity1
Modified residuei802PhosphoserineBy similarity1
Modified residuei891PhosphoserineBy similarity1
Modified residuei898PhosphoserineBy similarity1
Modified residuei913PhosphothreonineCombined sources1
Modified residuei931PhosphotyrosineBy similarity1
Modified residuei966Asymmetric dimethylarginineBy similarity1
Modified residuei1129PhosphothreonineBy similarity1
Modified residuei1133PhosphoserineBy similarity1
Modified residuei1158PhosphoserineCombined sources1
Modified residuei1162PhosphoserineCombined sources1
Modified residuei1165PhosphoserineBy similarity1
Modified residuei1234PhosphothreonineCombined sources1
Modified residuei1253PhosphoserineCombined sources1
Modified residuei1420PhosphoserineBy similarity1
Modified residuei1510PhosphoserineBy similarity1
Modified residuei1521PhosphoserineBy similarity1
Modified residuei1529PhosphoserineBy similarity1
Modified residuei1539PhosphoserineBy similarity1
Modified residuei1634PhosphoserineBy similarity1
Modified residuei1636PhosphoserineCombined sources1
Modified residuei1638PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

PaxDbiQ9BYB0
PeptideAtlasiQ9BYB0
PRIDEiQ9BYB0
ProteomicsDBi79606

PTM databases

CarbonylDBiQ9BYB0
iPTMnetiQ9BYB0
PhosphoSitePlusiQ9BYB0

Expressioni

Tissue specificityi

Expressed in the cerebral cortex and the cerebellum.

Gene expression databases

CleanExiHS_SHANK3

Organism-specific databases

HPAiHPA003446

Interactioni

Subunit structurei

May homomultimerize via its SAM domain. Interacts with BAIAP2, DBNL and SLC17A7/VGLUT1. Interacts with DLGAP1/GKAP, GRM1/MGLUR1, GRM5/MGLUR5 and LZTS3 C-termini via its PDZ domain. Interacts with ABI1, HOMER1, HOMER2, HOMER3 and CTTN/cortactin SH3 domain. Is part of a complex with DLG4/PSD-95 and DLGAP1/GKAP. Interacts (via PDZ domain) with the GRIA1 subunit of the AMPA receptor (via PDZ-binding motif). Interacts with WASF1 and CYFIP2; the interactions mediate the association of SHANK3 with the WAVE1 complex. Interacts with ARPC2; the interaction probably mediates the association of SHANK3 with the Arp2/3 complex. Interacts (via ANK repeats) with SHARPIN and SPTAN1. Interacts (via PDZ domain) with ARHGAP44 (probably via PDZ-binding motif); the interaction takes place in dendritic spines and promotes GRIA1 exocytosis (By similarity).By similarity

Binary interactionsi

Show more details

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi124487, 16 interactors
CORUMiQ9BYB0
DIPiDIP-52267N
IntActiQ9BYB0, 29 interactors
MINTiQ9BYB0
STRINGi9606.ENSP00000442518

Structurei

3D structure databases

ProteinModelPortaliQ9BYB0
SMRiQ9BYB0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati148 – 178ANK 1Add BLAST31
Repeati182 – 211ANK 2Add BLAST30
Repeati215 – 245ANK 3Add BLAST31
Repeati249 – 278ANK 4Add BLAST30
Repeati282 – 311ANK 5Add BLAST30
Repeati315 – 345ANK 6Add BLAST31
Domaini471 – 530SH3PROSITE-ProRule annotationAdd BLAST60
Domaini571 – 665PDZPROSITE-ProRule annotationAdd BLAST95
Domaini1668 – 1731SAMPROSITE-ProRule annotationAdd BLAST64

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 75Intramolecular interaction with the ANK repeatsBy similarityAdd BLAST75
Regioni678 – 685Required for interaction with ABI1By similarity8

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili1494 – 1514Sequence analysisAdd BLAST21

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi1410 – 1416SH3-bindingSequence analysis7

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi678 – 681Poly-Pro4
Compositional biasi719 – 722Poly-Ala4
Compositional biasi814 – 930Pro-richAdd BLAST117
Compositional biasi1232 – 1349Pro-richAdd BLAST118

Domaini

In isoform 1, the N-terminal region preceding the ANK repeats interacts with the 6 ANK repeats in an intramolecular manner, thereby restricting access to ligands, such as SHARPIN and SPTAN1.By similarity

Keywords - Domaini

ANK repeat, Coiled coil, Repeat, SH3 domain, SH3-binding

Phylogenomic databases

eggNOGiKOG0504 Eukaryota
KOG4375 Eukaryota
COG0666 LUCA
HOVERGENiHBG054027
InParanoidiQ9BYB0
KOiK15009

Family and domain databases

CDDicd00204 ANK, 1 hit
Gene3Di1.25.40.20, 2 hits
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR032425 FERM_f0
IPR001478 PDZ
IPR036034 PDZ_sf
IPR001660 SAM
IPR013761 SAM/pointed_sf
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
PfamiView protein in Pfam
PF12796 Ank_2, 2 hits
PF16511 FERM_f0, 1 hit
PF00595 PDZ, 1 hit
PF00536 SAM_1, 1 hit
PF07653 SH3_2, 1 hit
SMARTiView protein in SMART
SM00248 ANK, 5 hits
SM00228 PDZ, 1 hit
SM00454 SAM, 1 hit
SM00326 SH3, 1 hit
SUPFAMiSSF47769 SSF47769, 1 hit
SSF48403 SSF48403, 1 hit
SSF50044 SSF50044, 1 hit
SSF50156 SSF50156, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 4 hits
PS50106 PDZ, 1 hit
PS50105 SAM_DOMAIN, 1 hit
PS50002 SH3, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative promoter usage. AlignAdd to basket

Note: Additional isoforms seem to exist. These isoforms may be the product of multiple intragenic promoter and/or alternative splicing.
Isoform 1 (identifier: Q9BYB0-1) [UniParc]FASTAAdd to basket
Also known as: A

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
MDGPGASAVV VRVGIPDLQQ TKCLRLDPAA PVWAAKQRVL CALNHSLQDA 
        60         70         80         90        100
LNYGLFQPPS RGRAGKFLDE ERLLQEYPPN LDTPLPYLEF RYKRRVYAQN 
       110        120        130        140        150
LIDDKQFAKL HTKANLKKFM DYVQLHSTDK VARLLDKGLD PNFHDPDSGE 
       160        170        180        190        200
CPLSLAAQLD NATDLLKVLK NGGAHLDFRT RDGLTAVHCA TRQRNAAALT 
       210        220        230        240        250
TLLDLGASPD YKDSRGLTPL YHSALGGGDA LCCELLLHDH AQLGITDENG 
       260        270        280        290        300
WQEIHQACRF GHVQHLEHLL FYGADMGAQN ASGNTALHIC ALYNQESCAR 
       310        320        330        340        350
VLLFRGANRD VRNYNSQTAF QVAIIAGNFE LAEVIKTHKD SDVVPFRETP 
       360        370        380        390        400
SYAKRRRLAG PSGLASPRPL QRSASDINLK GEAQPAASPG PSLRSLPHQL 
       410        420        430        440        450
LLQRLQEEKD RDRDADQESN ISGPLAGRAG QSKISPSGPG GPGPAPGPGP 
       460        470        480        490        500
APPAPPAPPP RGPKRKLYSA VPGRKFIAVK AHSPQGEGEI PLHRGEAVKV 
       510        520        530        540        550
LSIGEGGFWE GTVKGRTGWF PADCVEEVQM RQHDTRPETR EDRTKRLFRH 
       560        570        580        590        600
YTVGSYDSLT SHSDYVIDDK VAVLQKRDHE GFGFVLRGAK AETPIEEFTP 
       610        620        630        640        650
TPAFPALQYL ESVDVEGVAW RAGLRTGDFL IEVNGVNVVK VGHKQVVALI 
       660        670        680        690        700
RQGGNRLVMK VVSVTRKPEE DGARRRAPPP PKRAPSTTLT LRSKSMTAEL 
       710        720        730        740        750
EELASIRRRK GEKLDEMLAA AAEPTLRPDI ADADSRAATV KQRPTSRRIT 
       760        770        780        790        800
PAEISSLFER QGLPGPEKLP GSLRKGIPRT KSVGEDEKLA SLLEGRFPRS 
       810        820        830        840        850
TSMQDPVREG RGIPPPPQTA PPPPPAPYYF DSGPPPAFSP PPPPGRAYDT 
       860        870        880        890        900
VRSSFKPGLE ARLGAGAAGL YEPGAALGPL PYPERQKRAR SMIILQDSAP 
       910        920        930        940        950
ESGDAPRPPP AATPPERPKR RPRPPGPDSP YANLGAFSAS LFAPSKPQRR 
       960        970        980        990       1000
KSPLVKQLQV EDAQERAALA VGSPGPGGGS FAREPSPTHR GPRPGGLDYG 
      1010       1020       1030       1040       1050
AGDGPGLAFG GPGPAKDRRL EERRRSTVFL SVGAIEGSAP GADLPSLQPS 
      1060       1070       1080       1090       1100
RSIDERLLGT GPTAGRDLLL PSPVSALKPL VSGPSLGPSG STFIHPLTGK 
      1110       1120       1130       1140       1150
PLDPSSPLAL ALAARERALA SQAPSRSPTP VHSPDADRPG PLFVDVQARD 
      1160       1170       1180       1190       1200
PERGSLASPA FSPRSPAWIP VPARREAEKV PREERKSPED KKSMILSVLD 
      1210       1220       1230       1240       1250
TSLQRPAGLI VVHATSNGQE PSRLGGAEEE RPGTPELAPA PMQSAAVAEP 
      1260       1270       1280       1290       1300
LPSPRAQPPG GTPADAGPGQ GSSEEEPELV FAVNLPPAQL SSSDEETREE 
      1310       1320       1330       1340       1350
LARIGLVPPP EEFANGVLLA TPLAGPGPSP TTVPSPASGK PSSEPPPAPE 
      1360       1370       1380       1390       1400
SAADSGVEEA DTRSSSDPHL ETTSTISTVS SMSTLSSESG ELTDTHTSFA 
      1410       1420       1430       1440       1450
DGHTFLLEKP PVPPKPKLKS PLGKGPVTFR DPLLKQSSDS ELMAQQHHAA 
      1460       1470       1480       1490       1500
SAGLASAAGP ARPRYLFQRR SKLWGDPVES RGLPGPEDDK PTVISELSSR 
      1510       1520       1530       1540       1550
LQQLNKDTRS LGEEPVGGLG SLLDPAKKSP IAAARLFSSL GELSSISAQR 
      1560       1570       1580       1590       1600
SPGGPGGGAS YSVRPSGRYP VARRAPSPVK PASLERVEGL GAGAGGAGRP 
      1610       1620       1630       1640       1650
FGLTPPTILK SSSLSIPHEP KEVRFVVRSV SARSRSPSPS PLPSPASGPG 
      1660       1670       1680       1690       1700
PGAPGPRRPF QQKPLQLWSK FDVGDWLESI HLGEHRDRFE DHEIEGAHLP 
      1710       1720       1730 
ALTKDDFVEL GVTRVGHRMN IERALRQLDG S
Note: Primarily expressed in neurons.
Length:1,731
Mass (Da):184,667
Last modified:February 19, 2014 - v3
Checksum:i781936CE60988D08
GO
Isoform 2 (identifier: Q9BYB0-3) [UniParc]FASTAAdd to basket
Also known as: B

The sequence of this isoform differs from the canonical sequence as follows:
     1-119: Missing.

Note: Produced by alternative promoter usage.
Show »
Length:1,612
Mass (Da):171,151
Checksum:iB5D0BACA602434C6
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03280412R → C Found in patients with neuropsychiatric disorders; unknown pathological significance; disrupts synaptic localization. 1 Publication1
Natural variantiVAR_070259141P → A in PHMDS. 1 PublicationCorresponds to variant dbSNP:rs397514705EnsemblClinVar.1
Natural variantiVAR_032805198A → G1 Publication1
Natural variantiVAR_032806224A → T1 PublicationCorresponds to variant dbSNP:rs766856815Ensembl.1
Natural variantiVAR_032807245I → T1 PublicationCorresponds to variant dbSNP:rs9616915EnsemblClinVar.1
Natural variantiVAR_032808300R → C Found in patients with neuropsychiatric disorders; unknown pathological significance; disrupts synaptic localization. 1 PublicationCorresponds to variant dbSNP:rs376862893Ensembl.1
Natural variantiVAR_070260321Q → R Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 Publication1
Natural variantiVAR_070261341S → L Found in patient with neuropsychiatric disorders; unknown pathological significance. 1 Publication1
Natural variantiVAR_065799493H → Q1 Publication1
Natural variantiVAR_065800536R → W in SCZD15. 1 PublicationCorresponds to variant dbSNP:rs387906933EnsemblClinVar.1
Natural variantiVAR_065801720A → T1 Publication1
Natural variantiVAR_065802952S → T1 Publication1
Natural variantiVAR_070262963A → G1 Publication1
Natural variantiVAR_070263970A → S Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs530255181EnsemblClinVar.1
Natural variantiVAR_0658031010G → V1 Publication1
Natural variantiVAR_0702641011G → V1 PublicationCorresponds to variant dbSNP:rs767058690Ensembl.1
Natural variantiVAR_0658041134P → H. Corresponds to variant dbSNP:rs769454362Ensembl.1
Natural variantiVAR_0702651173A → T Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139686326Ensembl.1
Natural variantiVAR_0702661231R → H1 PublicationCorresponds to variant dbSNP:rs750186589Ensembl.1
Natural variantiVAR_0702671263P → L Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs757572910Ensembl.1
Natural variantiVAR_0658051298R → K1 PublicationCorresponds to variant dbSNP:rs201483867EnsemblClinVar.1
Natural variantiVAR_0658061333V → G1 PublicationCorresponds to variant dbSNP:rs200087210Ensembl.1
Natural variantiVAR_0702681406L → V Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs201973139EnsemblClinVar.1
Natural variantiVAR_0702691443M → T Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs773395828Ensembl.1
Natural variantiVAR_0702701452A → S in PHMDS. 1 Publication1
Natural variantiVAR_0658071546I → V1 Publication1
Natural variantiVAR_0702711557G → S Found in a patient with neuropsychiatric disorders; unknown pathological significance. 1 Publication1
Natural variantiVAR_0702721566S → G1 Publication1
Natural variantiVAR_0658081645P → T1 Publication1
Natural variantiVAR_0702731654P → T Found in patients with neuropsychiatric disorders; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs749130556EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0536051 – 119Missing in isoform 2. CuratedAdd BLAST119

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC000050 Genomic DNA No translation available.
AC000036 Genomic DNA No translation available.
AB051437 mRNA Translation: BAB33320.1
AK074038 mRNA Translation: BAB84864.1
AB569469 mRNA Translation: BAJ09793.1
RefSeqiNP_277052.1, NM_033517.1 [Q9BYB0-1]
UniGeneiHs.149035

Genome annotation databases

EnsembliENST00000635818; ENSP00000490818; ENSG00000283243 [Q9BYB0-1]
ENST00000645837; ENSP00000495774; ENSG00000283243 [Q9BYB0-1]
GeneIDi85358
KEGGihsa:85358

Keywords - Coding sequence diversityi

Alternative promoter usage, Chromosomal rearrangement, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSHAN3_HUMAN
AccessioniPrimary (citable) accession number: Q9BYB0
Secondary accession number(s): D7UT47, Q8TET3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 26, 2002
Last sequence update: February 19, 2014
Last modified: June 20, 2018
This is version 147 of the entry and version 3 of the sequence. See 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 22
    Human chromosome 22: 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

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