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UniProtKB - Q9BX66 (SRBS1_HUMAN)

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Protein

Sorbin and SH3 domain-containing protein 1

Gene

SORBS1

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

Functioni

Plays a role in tyrosine phosphorylation of CBL by linking CBL to the insulin receptor. Required for insulin-stimulated glucose transport. Involved in formation of actin stress fibers and focal adhesions (By similarity).By similarity

GO - Molecular functioni

  • actin binding Source: ProtInc
  • cytoskeletal protein binding Source: ProtInc
  • insulin receptor binding Source: UniProtKB
  • SH3/SH2 adaptor activity Source: BHF-UCL
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • cell-matrix adhesion Source: ProtInc
  • cellular response to insulin stimulus Source: BHF-UCL
  • focal adhesion assembly Source: UniProtKB
  • insulin receptor signaling pathway Source: UniProtKB
  • muscle contraction Source: Reactome
  • positive regulation of glucose import Source: BHF-UCL
  • positive regulation of glucose import in response to insulin stimulus Source: UniProtKB
  • positive regulation of glycogen biosynthetic process Source: BHF-UCL
  • positive regulation of lipid biosynthetic process Source: BHF-UCL
  • positive regulation of protein localization to plasma membrane Source: BHF-UCL
  • stress fiber assembly Source: UniProtKB
View the complete GO annotation on QuickGO ...

Keywordsi

Biological processTransport

Enzyme and pathway databases

ReactomeiR-HSA-445355 Smooth Muscle Contraction
SignaLinkiQ9BX66
SIGNORiQ9BX66

Names & Taxonomyi

Protein namesi
Recommended name:
Sorbin and SH3 domain-containing protein 1
Alternative name(s):
Ponsin
SH3 domain protein 5
SH3P12
c-Cbl-associated protein
Short name:
CAP
Gene namesi
Name:SORBS1Imported
Synonyms:KIAA0894, KIAA1296, SH3D5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000095637.21
HGNCiHGNC:14565 SORBS1
MIMi605264 gene
neXtProtiNX_Q9BX66

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, Cytoplasm, Cytoskeleton, Membrane, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi10580
OpenTargetsiENSG00000095637
PharmGKBiPA37899

Polymorphism and mutation databases

BioMutaiSORBS1
DMDMi317373504

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000721851 – 1292Sorbin and SH3 domain-containing protein 1Add BLAST1292

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei82PhosphothreonineBy similarity1
Modified residuei86PhosphoserineCombined sources1
Modified residuei89PhosphoserineCombined sources1
Modified residuei242PhosphoserineCombined sources1
Modified residuei259PhosphoserineCombined sources1
Modified residuei341PhosphoserineCombined sources1
Modified residuei344PhosphothreonineBy similarity1
Modified residuei350PhosphoserineCombined sources1
Modified residuei369PhosphoserineBy similarity1
Modified residuei374PhosphoserineBy similarity1
Modified residuei465PhosphoserineBy similarity1
Modified residuei472PhosphoserineCombined sources1
Modified residuei481PhosphoserineCombined sources1
Modified residuei536Phosphotyrosine; by ABL1By similarity1
Modified residuei556PhosphoserineCombined sources1
Modified residuei609PhosphoserineBy similarity1
Modified residuei640PhosphoserineBy similarity1
Modified residuei654Phosphotyrosine; by ABL1By similarity1
Modified residuei665PhosphoserineCombined sources1
Modified residuei708PhosphothreonineCombined sources1
Modified residuei713PhosphoserineBy similarity1
Modified residuei862PhosphothreonineCombined sources1
Modified residuei937PhosphotyrosineCombined sources1
Modified residuei945PhosphoserineCombined sources1
Modified residuei953PhosphoserineBy similarity1
Modified residuei1240Phosphotyrosine; by ABL1By similarity1
Isoform 41 Publication (identifier: Q9BX66-4)
Modified residuei105PhosphoserineCombined sources1
Modified residuei346PhosphoserineCombined sources1
Modified residuei603PhosphoserineCombined sources1
Isoform 81 Publication (identifier: Q9BX66-8)
Modified residuei114PhosphoserineCombined sources1
Modified residuei730PhosphoserineCombined sources1
Isoform 12 (identifier: Q9BX66-12)
Modified residuei114PhosphoserineCombined sources1
Modified residuei1213PhosphoserineCombined sources1
Isoform 61 Publication (identifier: Q9BX66-6)
Modified residuei137PhosphoserineCombined sources1
Modified residuei452PhosphoserineCombined sources1
Modified residuei765PhosphoserineCombined sources1
Isoform 9Curated (identifier: Q9BX66-9)
Modified residuei146PhosphoserineCombined sources1
Modified residuei387PhosphoserineCombined sources1
Modified residuei700PhosphoserineCombined sources1
Isoform 7Curated (identifier: Q9BX66-7)
Modified residuei469PhosphoserineCombined sources1
Isoform 10Curated (identifier: Q9BX66-10)
Modified residuei478PhosphoserineCombined sources1
Modified residuei735PhosphoserineCombined sources1
Isoform 51 Publication (identifier: Q9BX66-5)
Modified residuei923PhosphoserineCombined sources1

Post-translational modificationi

O-glycosylated.By similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ9BX66
MaxQBiQ9BX66
PaxDbiQ9BX66
PeptideAtlasiQ9BX66
PRIDEiQ9BX66
ProteomicsDBi79354
79355 [Q9BX66-10]
79356 [Q9BX66-11]
79357 [Q9BX66-12]
79358 [Q9BX66-2]
79359 [Q9BX66-3]
79360 [Q9BX66-4]
79361 [Q9BX66-5]
79362 [Q9BX66-6]
79363 [Q9BX66-7]
79364 [Q9BX66-8]
79365 [Q9BX66-9]

PTM databases

iPTMnetiQ9BX66
PhosphoSitePlusiQ9BX66

Expressioni

Tissue specificityi

Detected in skeletal muscle (at protein level). Widely expressed with highest levels in heart and skeletal muscle.2 Publications

Gene expression databases

BgeeiENSG00000095637
ExpressionAtlasiQ9BX66 baseline and differential
GenevisibleiQ9BX66 HS

Organism-specific databases

HPAiHPA027559
HPA043084

Interactioni

Subunit structurei

Interacts (via third SH3 domain) with the Ten-1 ICD form of TENM1; the interaction induces the translocation of SORBS1 to the nucleus. Interacts with INSM1 (By similarity). Interacts with the long isoform of AFDN and with VCL. AFDN and VCL bind to SORBS1 in a competitive manner and do not form a ternary complex. Interacts with ABL1, CBL, CBLB and INPPL1/SHIP2 through the third SH3 domain. Interaction with ABL1 occurs only after insulin stimulation while this has no effect on the interaction with INPPL1. Interacts with the insulin receptor but dissociates from it following insulin stimulation. Also interacts with SCA7, PTK2/FAK1 and flotillin. Interacts (via SH3 domain 2) with PXN.By similarity4 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • actin binding Source: ProtInc
  • cytoskeletal protein binding Source: ProtInc
  • insulin receptor binding Source: UniProtKB
  • SH3/SH2 adaptor activity Source: BHF-UCL
View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi115831, 38 interactors
CORUMiQ9BX66
IntActiQ9BX66, 36 interactors
MINTiQ9BX66
STRINGi9606.ENSP00000355136

Structurei

Secondary structure

11292
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi796 – 802Combined sources7
Beta strandi808 – 811Combined sources4
Beta strandi819 – 825Combined sources7
Beta strandi827 – 835Combined sources9
Beta strandi838 – 843Combined sources6
Helixi844 – 846Combined sources3
Beta strandi847 – 849Combined sources3
Beta strandi863 – 865Combined sources3
Beta strandi870 – 874Combined sources5
Beta strandi882 – 885Combined sources4
Beta strandi893 – 899Combined sources7
Beta strandi901 – 908Combined sources8
Turni910 – 912Combined sources3
Beta strandi915 – 919Combined sources5
Helixi920 – 922Combined sources3
Beta strandi923 – 927Combined sources5
Beta strandi1230 – 1233Combined sources4
Beta strandi1235 – 1240Combined sources6
Beta strandi1257 – 1263Combined sources7
Beta strandi1267 – 1273Combined sources7
Turni1274 – 1276Combined sources3
Beta strandi1279 – 1283Combined sources5
Beta strandi1286 – 1289Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DL3NMR-A796-850[»]
2ECZNMR-A870-926[»]
2LJ0NMR-A1228-1292[»]
2LJ1NMR-A1228-1291[»]
2MOXNMR-A791-930[»]
2O2WX-ray2.27A870-930[»]
2O31X-ray1.50A870-930[»]
2O9SX-ray0.83A870-930[»]
2O9VX-ray1.63A870-930[»]
4LN2X-ray1.00A866-930[»]
4LNPX-ray1.41A794-854[»]
ProteinModelPortaliQ9BX66
SMRiQ9BX66
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9BX66

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini366 – 469SoHoPROSITE-ProRule annotationAdd BLAST104
Domaini793 – 852SH3 1PROSITE-ProRule annotationAdd BLAST60
Domaini867 – 928SH3 2PROSITE-ProRule annotationAdd BLAST62
Domaini1231 – 1292SH3 3PROSITE-ProRule annotationAdd BLAST62

Keywords - Domaini

Repeat, SH3 domain

Phylogenomic databases

eggNOGiKOG4225 Eukaryota
ENOG410XNVJ LUCA
GeneTreeiENSGT00760000119190
HOVERGENiHBG053053
InParanoidiQ9BX66
KOiK06086
OMAiDYIDLPF
OrthoDBiEOG091G0172
PhylomeDBiQ9BX66
TreeFamiTF320680

Family and domain databases

CDDicd11919 SH3_Sorbs1_1, 1 hit
cd11922 SH3_Sorbs1_2, 1 hit
cd11916 SH3_Sorbs1_3, 1 hit
InterProiView protein in InterPro
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
IPR003127 SoHo_dom
IPR028506 Sorbin_SH3
IPR035606 SORBS1_SH3
IPR035610 SORBS1_SH3_1
IPR035611 SORBS1_SH3_2
PANTHERiPTHR45043 PTHR45043, 1 hit
PfamiView protein in Pfam
PF00018 SH3_1, 1 hit
PF07653 SH3_2, 1 hit
PF14604 SH3_9, 1 hit
PF02208 Sorb, 1 hit
SMARTiView protein in SMART
SM00326 SH3, 3 hits
SM00459 Sorb, 1 hit
SUPFAMiSSF50044 SSF50044, 3 hits
PROSITEiView protein in PROSITE
PS50002 SH3, 3 hits
PS50831 SOHO, 1 hit

Sequences (12)i

Sequence statusi: Complete.

This entry describes 12 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 11 Publication (identifier: Q9BX66-1) [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
MSSECDGGSK AVMNGLAPGS NGQDKATADP LRARSISAVK IIPVKTVKNA 
        60         70         80         90        100
SGLVLPTDMD LTKICTGKGA VTLRASSSYR ETPSSSPASP QETRQHESKP 
       110        120        130        140        150
GLEPEPSSAD EWRLSSSADA NGNAQPSSLA AKGYRSVHPN LPSDKSQDAT 
       160        170        180        190        200
SSSAAQPEVI VVPLYLVNTD RGQEGTARPP TPLGPLGCVP TIPATASAAS 
       210        220        230        240        250
PLTFPTLDDF IPPHLQRWPH HSQPARASGS FAPISQTPPS FSPPPPLVPP 
       260        270        280        290        300
APEDLRRVSE PDLTGAVSST DSSPLLNEVS SSLIGTDSQA FPSVSKPSSA 
       310        320        330        340        350
YPSTTIVNPT IVLLQHNREQ QKRLSSLSDP VSERRVGEQD SAPTQEKPTS 
       360        370        380        390        400
PGKAIEKRAK DDSRRVVKST QDLSDVSMDE VGIPLRNTER SKDWYKTMFK 
       410        420        430        440        450
QIHKLNRDTP EENPYFPTYK FPELPEIQQT SEEDNPYTPT YQFPASTPSP 
       460        470        480        490        500
KSEDDDSDLY SPRYSFSEDT KSPLSVPRSK SEMSYIDGEK VVKRSATLPL 
       510        520        530        540        550
PARSSSLKSS SERNDWEPPD KKVDTRKYRA EPKSIYEYQP GKSSVLTNEK 
       560        570        580        590        600
MSRDISPEEI DLKNEPWYKF FSELEFGKPP PKKIWDYTPG DCSILPREDR 
       610        620        630        640        650
KTNLDKDLSL CQTELEADLE KMETLNKAPS ANVPQSSAIS PTPEISSETP 
       660        670        680        690        700
GYIYSSNFHA VKRESDGAPG DLTSLENERQ IYKSVLEGGD IPLQGLSGLK 
       710        720        730        740        750
RPSSSASTKD SESPRHFIPA DYLESTEEFI RRRHDDKEKL LADQRRLKRE 
       760        770        780        790        800
QEEADIAARR HTGVIPTHHQ FITNERFGDL LNIDDTAKRK SGSEMRPARA 
       810        820        830        840        850
KFDFKAQTLK ELPLQKGDIV YIYKQIDQNW YEGEHHGRVG IFPRTYIELL 
       860        870        880        890        900
PPAEKAQPKK LTPVQVLEYG EAIAKFNFNG DTQVEMSFRK GERITLLRQV 
       910        920        930        940        950
DENWYEGRIP GTSRQGIFPI TYVDVIKRPL VKNPVDYMDL PFSSSPSRSA 
       960        970        980        990       1000
TASPQFSSHS KLITPAPSSL PHSRRALSPE MHAVTSEWIS LTVGVPGRRS 
      1010       1020       1030       1040       1050
LALTPPLPPL PEASIYNTDH LALSPRASPS LSLSLPHLSW SDRPTPRSVA 
      1060       1070       1080       1090       1100
SPLALPSPHK TYSLAPTSQA SLHMNGDGGV HTPSSGIHQD SFLQLPLGSS 
      1110       1120       1130       1140       1150
DSVISQLSDA FSSQSKRQPW REESGQYERK AERGAGERGP GGPKISKKSC 
      1160       1170       1180       1190       1200
LKPSDVVRCL STEQRLSDLN TPEESRPGKP LGSAFPGSEA EQTERHRGGE 
      1210       1220       1230       1240       1250
QAGRKAARRG GSQQPQAQQR RVTPDRSQTS QDLFSYQALY SYIPQNDDEL 
      1260       1270       1280       1290 
ELRDGDIVDV MEKCDDGWFV GTSRRTKQFG TFPGNYVKPL YL
Length:1,292
Mass (Da):142,513
Last modified:January 11, 2011 - v3
Checksum:i70DA4169B6D82F06
GO
Isoform 21 Publication (identifier: Q9BX66-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     434-453: DNPYTPTYQFPASTPSPKSE → TKSCSVMSPRLECSGTVIAHCSLKLLDSSNPPTSASQVAGTA
     955-1117: Missing.

Show »
Length:1,151
Mass (Da):127,276
Checksum:iC1BD7AD5D5BE1300
GO
Isoform 31 Publication (identifier: Q9BX66-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     147-215: Missing.
     408-453: Missing.
     602-635: Missing.
     956-975: FSSHSKLITPAPSSLPHSRR → LSHHSLRAGPDLTESEKSYV
     976-1213: Missing.

Show »
Length:905
Mass (Da):101,082
Checksum:iC44DB4C9B0526933
GO
Isoform 41 Publication (identifier: Q9BX66-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     26-57: Missing.
     101-109: Missing.
     148-270: Missing.
     408-453: Missing.
     552-635: Missing.
     738-793: Missing.
     955-1212: Missing.

Show »
Length:684
Mass (Da):76,596
Checksum:i9A417161477CB810
GO
Isoform 51 Publication (identifier: Q9BX66-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     101-109: Missing.
     431-451: Missing.
     955-1212: Missing.

Show »
Length:1,004
Mass (Da):111,791
Checksum:i45A17463F7373E8B
GO
Isoform 61 Publication (identifier: Q9BX66-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     101-109: Missing.
     148-270: Missing.
     580-635: Missing.
     955-1212: Missing.

Show »
Length:846
Mass (Da):95,036
Checksum:i61FC1B8026A7D9A1
GO
Isoform 7Curated (identifier: Q9BX66-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     26-57: Missing.
     101-109: Missing.
     408-453: Missing.
     552-635: Missing.
     795-799: MRPAR → KYDWA
     800-1292: Missing.

Note: No experimental confirmation available.Combined sources
Show »
Length:628
Mass (Da):68,745
Checksum:i4B5BD67EF6355537
GO
Isoform 81 Publication (identifier: Q9BX66-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     26-57: Missing.
     148-270: Missing.
     408-453: Missing.
     580-601: Missing.
     955-1212: Missing.

Show »
Length:811
Mass (Da):91,055
Checksum:i019F4E7E811AFDF5
GO
Isoform 9Curated (identifier: Q9BX66-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     148-270: Missing.
     408-453: Missing.
     552-635: Missing.
     955-1212: Missing.

Show »
Length:781
Mass (Da):87,199
Checksum:iEDB752BF6DB3E4E1
GO
Isoform 10Curated (identifier: Q9BX66-10) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     26-57: Missing.
     408-453: Missing.
     552-635: Missing.
     738-793: Missing.
     955-1212: Missing.

Note: No experimental confirmation available.Combined sources
Show »
Length:816
Mass (Da):90,218
Checksum:i490FCF5615BF69DB
GO
Isoform 11 (identifier: Q9BX66-11) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     408-453: Missing.
     1213-1213: Q → QLSHHSLRAGPDLTESEKSYV

Show »
Length:1,266
Mass (Da):139,401
Checksum:i857F07CDCB13B97E
GO
Isoform 12 (identifier: Q9BX66-12) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     26-57: Missing.
     148-270: Missing.
     319-328: Missing.
     408-453: Missing.
     580-601: Missing.
     709-709: K → KVDRKGGNAH...PQSELAPSRG
     955-1212: Missing.

Note: No experimental confirmation available. Derived from mouse ortholog data.Combined sources
Show »
Length:1,294
Mass (Da):143,741
Checksum:i770EBDC6412A6C03
GO

Sequence cautioni

The sequence AAB93496 differs from that shown. Reason: Frameshift at positions 861, 867 and 885.Curated
The sequence BAA92534 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti9S → P in CAJ97431 (PubMed:17462669).Curated1
Sequence conflicti18P → S in AAD27647 (PubMed:11374898).Curated1
Sequence conflicti18P → S in AAF22175 (PubMed:11532984).Curated1
Sequence conflicti110D → G in AAD27647 (PubMed:11374898).Curated1
Sequence conflicti110D → G in AAF22175 (PubMed:11532984).Curated1
Sequence conflicti113R → K in AAD27647 (PubMed:11374898).Curated1
Sequence conflicti113R → K in AAF22175 (PubMed:11532984).Curated1
Sequence conflicti131A → V in AAD27647 (PubMed:11374898).Curated1
Sequence conflicti131A → V in AAF22175 (PubMed:11532984).Curated1
Sequence conflicti134Y → S in AAD27647 (PubMed:11374898).Curated1
Sequence conflicti134Y → S in AAF22175 (PubMed:11532984).Curated1
Sequence conflicti226 – 228RAS → SAC in AAF22175 (PubMed:11532984).Curated3
Sequence conflicti264T → P in AAF22175 (PubMed:11532984).Curated1
Sequence conflicti292 – 295PSVS → SSEC in AAD27647 (PubMed:11374898).Curated4
Sequence conflicti292 – 295PSVS → SSEC in AAF22175 (PubMed:11532984).Curated4
Sequence conflicti481S → R in AAF22175 (PubMed:11532984).Curated1
Sequence conflicti489E → V in AAD27647 (PubMed:11374898).Curated1
Sequence conflicti489E → V in AAF22175 (PubMed:11532984).Curated1
Sequence conflicti607D → E in AAF22175 (PubMed:11532984).Curated1
Sequence conflicti610L → F in AAF22175 (PubMed:11532984).Curated1
Sequence conflicti644E → G in AAD27647 (PubMed:11374898).Curated1
Sequence conflicti644E → G in AAF22175 (PubMed:11532984).Curated1
Sequence conflicti679R → S in AAD27647 (PubMed:11374898).Curated1
Sequence conflicti679R → S in AAF22175 (PubMed:11532984).Curated1
Sequence conflicti690D → V in AAD27647 (PubMed:11374898).Curated1
Sequence conflicti690D → V in AAF22175 (PubMed:11532984).Curated1
Sequence conflicti694Q → R in CAJ97431 (PubMed:17462669).Curated1
Sequence conflicti695G → D in AAD27647 (PubMed:11374898).Curated1
Sequence conflicti695G → D in AAF22175 (PubMed:11532984).Curated1
Sequence conflicti710D → N in AAD27647 (PubMed:11374898).Curated1
Sequence conflicti710D → N in AAF22175 (PubMed:11532984).Curated1
Sequence conflicti1156V → G in AAK37563 (PubMed:11374898).Curated1
Sequence conflicti1156V → G in AAK37564 (PubMed:11374898).Curated1
Isoform 21 Publication (identifier: Q9BX66-2)
Sequence conflicti435K → E in AAK37564 (PubMed:11374898).Curated1
Sequence conflicti452 – 455AHCS → SRCG in AAK37564 (PubMed:11374898).Curated4
Sequence conflicti463N → D in AAK37564 (PubMed:11374898).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04765261L → P8 PublicationsCorresponds to variant dbSNP:rs943542Ensembl.1
Natural variantiVAR_01965374R → W1 PublicationCorresponds to variant dbSNP:rs757431022Ensembl.1
Natural variantiVAR_047653175G → V. Corresponds to variant dbSNP:rs7081076Ensembl.1
Natural variantiVAR_035661195T → A in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_019654237T → A Has a protective role in both obesity and diabetes. 1 PublicationCorresponds to variant dbSNP:rs2281939Ensembl.1
Natural variantiVAR_047654485Y → C. Corresponds to variant dbSNP:rs35808802Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05089526 – 57Missing in isoform 4, isoform 7, isoform 8, isoform 10 and isoform 12. 4 PublicationsAdd BLAST32
Alternative sequenceiVSP_050896101 – 109Missing in isoform 4, isoform 5, isoform 6 and isoform 7. 4 Publications9
Alternative sequenceiVSP_050898147 – 215Missing in isoform 3. 1 PublicationAdd BLAST69
Alternative sequenceiVSP_050899148 – 270Missing in isoform 4, isoform 6, isoform 8, isoform 9 and isoform 12. 5 PublicationsAdd BLAST123
Alternative sequenceiVSP_041193319 – 328Missing in isoform 12. Curated10
Alternative sequenceiVSP_050900408 – 453Missing in isoform 3, isoform 4, isoform 7, isoform 8, isoform 9, isoform 10, isoform 11 and isoform 12. 6 PublicationsAdd BLAST46
Alternative sequenceiVSP_050901431 – 451Missing in isoform 5. 3 PublicationsAdd BLAST21
Alternative sequenceiVSP_050902434 – 453DNPYT…SPKSE → TKSCSVMSPRLECSGTVIAH CSLKLLDSSNPPTSASQVAG TA in isoform 2. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_050903552 – 635Missing in isoform 4, isoform 7, isoform 9 and isoform 10. 4 PublicationsAdd BLAST84
Alternative sequenceiVSP_050905580 – 635Missing in isoform 6. 1 PublicationAdd BLAST56
Alternative sequenceiVSP_050904580 – 601Missing in isoform 8 and isoform 12. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_050906602 – 635Missing in isoform 3. 1 PublicationAdd BLAST34
Alternative sequenceiVSP_041194709K → KVDRKGGNAHMISSSSVHSR TFNTSNALGPVCKHKKPLSA AKACISEILPSKFKPRLSAP SALLQEQKSILLPSEKAQSC ENLCVSGSLNDSKRGLPLQV GGSIENLLMRSRRDYDSKSS STMSLQEYSTSGRRPCPLSR KAGMQFTMLYRDMHQINRSG LFLGSISSSSSVRDLASHFE KSSLALSRGELGPSQEGSEH IPKHTVSSRITAFEQLIQRS RSMPSLDLSGRLSKSPTPVL SRGSLTSARSAESLLESTKL HPKEMDGMNSSGVYASPTCS NMAHHALSFRGLVPSEPLST CSDDVDRCSNISTDSREGSG GSVHGDFPKHRLNKCKGTCP ASYTRFTTIRKHEQQQTSRQ PEWRLDARGDKSTLLRNIYL MSPLPFRLKKPLHHHPRQPS PGDSSGLLVGQKPDLPSQPH QDQPPSGGKPVVPTRLSSRH TMARLSRSSEPSQERPTALE DYPRAINNGNSVPYSDHSLD RNNNPQSELAPSRG in isoform 12. Curated1
Alternative sequenceiVSP_050907738 – 793Missing in isoform 4 and isoform 10. 2 PublicationsAdd BLAST56
Alternative sequenceiVSP_050908795 – 799MRPAR → KYDWA in isoform 7. 1 Publication5
Alternative sequenceiVSP_050909800 – 1292Missing in isoform 7. 1 PublicationAdd BLAST493
Alternative sequenceiVSP_050911955 – 1212Missing in isoform 4, isoform 5, isoform 6, isoform 8, isoform 9, isoform 10 and isoform 12. 7 PublicationsAdd BLAST258
Alternative sequenceiVSP_050910955 – 1117Missing in isoform 2. 1 PublicationAdd BLAST163
Alternative sequenceiVSP_050912956 – 975FSSHS…PHSRR → LSHHSLRAGPDLTESEKSYV in isoform 3. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_050913976 – 1213Missing in isoform 3. 1 PublicationAdd BLAST238
Alternative sequenceiVSP_0392101213Q → QLSHHSLRAGPDLTESEKSY V in isoform 11. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF136380 mRNA Translation: AAD27647.1
AF356525 mRNA Translation: AAK37563.1
AF356526 mRNA Translation: AAK37564.1
AF356527 mRNA Translation: AAK37565.1
AF330623 mRNA Translation: AAK57479.1
AF330624 mRNA Translation: AAK57480.1
AF136381 mRNA Translation: AAF22175.1
AJ489942 mRNA Translation: CAD34588.1
AM260536 mRNA Translation: CAJ97431.1
AB037717 mRNA Translation: BAA92534.1 Different initiation.
AL117472 mRNA Translation: CAB55947.1
AL158165 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW49999.1
CH471066 Genomic DNA Translation: EAW50007.1
BC042612 mRNA Translation: AAH42612.1
BC152463 mRNA Translation: AAI52464.1
U70668 mRNA Translation: AAB93496.1 Frameshift.
CCDSiCCDS31252.1 [Q9BX66-4]
CCDS31253.1 [Q9BX66-9]
CCDS31254.1 [Q9BX66-2]
CCDS31255.1 [Q9BX66-1]
CCDS31256.1 [Q9BX66-3]
CCDS73169.1 [Q9BX66-11]
CCDS7442.1 [Q9BX66-10]
CCDS76326.1 [Q9BX66-8]
CCDS76327.1 [Q9BX66-5]
PIRiT17257
RefSeqiNP_001030126.1, NM_001034954.1
NP_001030127.1, NM_001034955.1
NP_001030128.1, NM_001034956.1
NP_001030129.1, NM_001034957.1
NP_001277223.1, NM_001290294.1
NP_001277224.1, NM_001290295.1
NP_001277225.1, NM_001290296.1
NP_001277226.1, NM_001290297.1
NP_001277227.1, NM_001290298.1
NP_006425.2, NM_006434.2
NP_056200.1, NM_015385.3
NP_079267.1, NM_024991.2
XP_006717652.1, XM_006717589.1 [Q9BX66-5]
UniGeneiHs.38621

Genome annotation databases

EnsembliENST00000277982; ENSP00000277982; ENSG00000095637 [Q9BX66-2]
ENST00000306402; ENSP00000302556; ENSG00000095637 [Q9BX66-9]
ENST00000354106; ENSP00000277984; ENSG00000095637 [Q9BX66-5]
ENST00000361941; ENSP00000355136; ENSG00000095637 [Q9BX66-1]
ENST00000371227; ENSP00000360271; ENSG00000095637 [Q9BX66-11]
ENST00000371239; ENSP00000360283; ENSG00000095637 [Q9BX66-8]
ENST00000371241; ENSP00000360285; ENSG00000095637 [Q9BX66-4]
ENST00000371245; ENSP00000360291; ENSG00000095637 [Q9BX66-3]
ENST00000371246; ENSP00000360292; ENSG00000095637 [Q9BX66-2]
ENST00000371247; ENSP00000360293; ENSG00000095637 [Q9BX66-1]
ENST00000371249; ENSP00000360295; ENSG00000095637 [Q9BX66-10]
ENST00000607232; ENSP00000475901; ENSG00000095637 [Q9BX66-12]
GeneIDi10580
KEGGihsa:10580
UCSCiuc001kko.4 human [Q9BX66-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSRBS1_HUMAN
AccessioniPrimary (citable) accession number: Q9BX66
Secondary accession number(s): A0AED4
, A6NEK3, A6NID8, A6NJS4, A7MD40, D3DR42, O43857, Q5T923, Q5T924, Q5T927, Q5T928, Q5T929, Q5T930, Q5T931, Q5T932, Q7LBE5, Q8IVK0, Q8IVQ4, Q96KF3, Q96KF4, Q9BX64, Q9BX65, Q9P2Q0, Q9UFT2, Q9UHN7, Q9Y338
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 31, 2004
Last sequence update: January 11, 2011
Last modified: June 20, 2018
This is version 173 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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