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Protein

Target of Nesh-SH3

Gene

ABI3BP

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

Functioni

GO - Molecular functioni

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Target of Nesh-SH3
Short name:
Tarsh
Alternative name(s):
ABI gene family member 3-binding protein
Nesh-binding protein
Short name:
NeshBP
Gene namesi
Name:ABI3BP
Synonyms:NESHBP, TARSH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000154175.16
HGNCiHGNC:17265 ABI3BP
MIMi606279 gene
neXtProtiNX_Q7Z7G0

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

Secreted

Pathology & Biotechi

Involvement in diseasei

Defects in ABI3BP has been found in a patient with isolated coloboma, a defect of the eye characterized by the absence of ocular structures due to abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Isolated colobomas may be associated with an abnormally small eye (microphthalmia) or small cornea.1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi25890
OpenTargetsiENSG00000154175
PharmGKBiPA134977769

Polymorphism and mutation databases

BioMutaiABI3BP
DMDMi50401533

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 28Sequence analysisAdd BLAST28
ChainiPRO_000002247229 – 1075Target of Nesh-SH3Add BLAST1047

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi44N-linked (GlcNAc...) asparagine1 Publication1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ7Z7G0
MaxQBiQ7Z7G0
PaxDbiQ7Z7G0
PeptideAtlasiQ7Z7G0
PRIDEiQ7Z7G0

PTM databases

iPTMnetiQ7Z7G0
PhosphoSitePlusiQ7Z7G0

Expressioni

Tissue specificityi

Expressed in brain, heart, lung, liver, pancreas kidney and placenta.1 Publication

Gene expression databases

BgeeiENSG00000154175
CleanExiHS_ABI3BP
ExpressionAtlasiQ7Z7G0 baseline and differential
GenevisibleiQ7Z7G0 HS

Organism-specific databases

HPAiHPA044127
HPA048456

Interactioni

Subunit structurei

Probably interacts with ABI3.

Protein-protein interaction databases

BioGridi117399, 8 interactors
IntActiQ7Z7G0, 7 interactors
STRINGi9606.ENSP00000284322

Structurei

3D structure databases

ProteinModelPortaliQ7Z7G0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini123 – 221Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST99
Domaini840 – 933Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST94

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi419 – 756Pro-richAdd BLAST338

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IIJU Eukaryota
ENOG410YEIJ LUCA
GeneTreeiENSGT00530000063558
HOGENOMiHOG000065723
HOVERGENiHBG056157
InParanoidiQ7Z7G0
PhylomeDBiQ7Z7G0
TreeFamiTF331037

Family and domain databases

CDDicd00063 FN3, 2 hits
Gene3Di2.60.40.10, 2 hits
InterProiView protein in InterPro
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR013783 Ig-like_fold
PfamiView protein in Pfam
PF00041 fn3, 1 hit
SMARTiView protein in SMART
SM00060 FN3, 2 hits
SUPFAMiSSF49265 SSF49265, 2 hits
PROSITEiView protein in PROSITE
PS50853 FN3, 2 hits

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q7Z7G0-1) [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
MRGGKCNMLS SLGCLLLCGS ITLALGNAQK LPKGKRPNLK VHINTTSDSI
60 70 80 90 100
LLKFLRPSPN VKLEGLLLGY GSNVSPNQYF PLPAEGKFTE AIVDAEPKYL
110 120 130 140 150
IVVRPAPPPS QKKSCSGKTR SRKPLQLVVG TLTPSSVFLS WGFLINPHHD
160 170 180 190 200
WTLPSHCPND RFYTIRYREK DKEKKWIFQI CPATETIVEN LKPNTVYEFG
210 220 230 240 250
VKDNVEGGIW SKIFNHKTVV GSKKVNGKIQ STYDQDHTVP AYVPRKLIPI
260 270 280 290 300
TIIKQVIQNV THKDSAKSPE KAPLGGVILV HLIIPGLNET TVKLPASLMF
310 320 330 340 350
EISDALKTQL AKNETLALPA ESKTPEVEKI SARPTTVTPE TVPRSTKPTT
360 370 380 390 400
SSALDVSETT LASSEKPWIV PTAKISEDSK VLQPQTATYD VFSSPTTSDE
410 420 430 440 450
PEISDSYTAT SDRILDSIPP KTSRTLEQPR ATLAPSETPF VPQKLEIFTS
460 470 480 490 500
PEMQPTTPAP QQTTSIPSTP KRRPRPKPPR TKPERTTSAG TITPKISKSP
510 520 530 540 550
EPTWTTPAPG KTQFISLKPK IPLSPEVTHT KPAPKQTPRA PPKPKTSPRP
560 570 580 590 600
RIPQTQPVPK VPQRVTAKPK TSPSPEVSYT TPAPKDVLLP HKPYPEVSQS
610 620 630 640 650
EPAPLETRGI PFIPMISPSP SQEELQTTLE ETDQSTQEPF TTKIPRTTEL
660 670 680 690 700
AKTTQAPHRF YTTVRPRTSD KPHIRPGVKQ APRPSGADRN VSVDSTHPTK
710 720 730 740 750
KPGTRRPPLP PRPTHPRRKP LPPNNVTGKP GSAGIISSGP ITTPPLRSTP
760 770 780 790 800
RPTGTPLERI ETDIKQPTVP ASGEELENIT DFSSSPTRET DPLGKPRFKG
810 820 830 840 850
PHVRYIQKPD NSPCSITDSV KRFPKEEATE GNATSPPQNP PTNLTVVTVE
860 870 880 890 900
GCPSFVILDW EKPLNDTVTE YEVISRENGS FSGKNKSIQM TNQTFSTVEN
910 920 930 940 950
LKPNTSYEFQ VKPKNPLGEG PVSNTVAFST ESADPRVSEP VSAGRDAIWT
960 970 980 990 1000
ERPFNSDSYS ECKGKQYVKR TWYKKFVGVQ LCNSLRYKIY LSDSLTGKFY
1010 1020 1030 1040 1050
NIGDQRGHGE DHCQFVDSFL DGRTGQQLTS DQLPIKEGYF RAVRQEPVQF
1060 1070
GEIGGHTQIN YVQWYECGTT IPGKW
Length:1,075
Mass (Da):118,642
Last modified:October 1, 2003 - v1
Checksum:i52FF60EE360FA0F1
GO
Isoform 2 (identifier: Q7Z7G0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-614: Missing.
     676-676: P → PVLNRTTTRPTRPKPSGMPSGNGVGT

Show »
Length:486
Mass (Da):53,888
Checksum:i790AEBE657E0D766
GO
Isoform 3 (identifier: Q7Z7G0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-316: Missing.
     317-446: Missing.
     447-531: IFTSPEMQPT...PLSPEVTHTK → MTESLPVSDV...LPSPDEPQTE
     676-676: P → PVLNRTTTRPTRPKPSGMPSGNGVGT

Note: No experimental confirmation available.
Show »
Length:655
Mass (Da):72,267
Checksum:iBA728A5D1FAC9343
GO
Isoform 4 (identifier: Q7Z7G0-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-316: Missing.
     317-530: ALPAESKTPE...IPLSPEVTHT → MTIVPTTDIE...TTPRPEAPES
     676-676: P → PVLNRTTTRPTRPKPSGMPSGNGVGT

Note: No experimental confirmation available.
Show »
Length:784
Mass (Da):86,789
Checksum:iF981C59445ACC6FF
GO

Sequence cautioni

The sequence CAB56034 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079855670D → G Found in a patient with isolated coloboma; unknown pathological significance. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0108601 – 614Missing in isoform 2. 2 PublicationsAdd BLAST614
Alternative sequenceiVSP_0108621 – 316Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST316
Alternative sequenceiVSP_010865317 – 530ALPAE…EVTHT → MTIVPTTDIEPVTVRTEATV TTLAPKTSQRTRTRRPRPKH KTTPRPETLQTKLDFGPITP GTSSAPTTTTKRTRRPHPKP KTTPHPEVPQTKLAPKVPQR THRPHPKPKTTLSPEELQTE LVPVTDLGPVTFRTEIPATT LATKTSKRTRPPRPRPKTTP SPQAPETKPVPATVLEPVTL RPEASTTLASKTSQRTRRPR LRTKTTPRPEAPES in isoform 4. 1 PublicationAdd BLAST214
Alternative sequenceiVSP_010863317 – 446Missing in isoform 3. 1 PublicationAdd BLAST130
Alternative sequenceiVSP_010864447 – 531IFTSP…VTHTK → MTESLPVSDVLESVTLSTES PKETIAPAKTDYVYPTAKAP LWPEEPKTEVVESITYVSEP PETTLETSPLPSQSITLPSP DEPQTE in isoform 3. 1 PublicationAdd BLAST85
Alternative sequenceiVSP_010861676P → PVLNRTTTRPTRPKPSGMPS GNGVGT in isoform 2, isoform 3 and isoform 4. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB056106 mRNA Translation: BAB32867.1
AK093861 mRNA Translation: BAG52776.1
AK123737 mRNA Translation: BAC85685.1
AK123748 mRNA Translation: BAC85687.1
CH471052 Genomic DNA Translation: EAW79811.1
BC030221 mRNA Translation: AAH30221.1
AL117664 mRNA Translation: CAB56034.1 Different initiation.
CCDSiCCDS46880.1 [Q7Z7G0-1]
PIRiT17344
RefSeqiNP_056244.2, NM_015429.3 [Q7Z7G0-1]
UniGeneiHs.477015

Genome annotation databases

EnsembliENST00000284322; ENSP00000284322; ENSG00000154175 [Q7Z7G0-1]
GeneIDi25890
KEGGihsa:25890
UCSCiuc003dun.4 human [Q7Z7G0-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiTARSH_HUMAN
AccessioniPrimary (citable) accession number: Q7Z7G0
Secondary accession number(s): B3KSL4
, Q6ZW20, Q6ZW22, Q9C082, Q9UFI6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: October 1, 2003
Last modified: April 25, 2018
This is version 130 of the entry and version 1 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
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Main funding by: National Institutes of Health