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Protein

Integrin beta-1-binding protein 2

Gene

ITGB1BP2

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

Functioni

May play a role during maturation and/or organization of muscles cells.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi5 – 51Zinc 1PROSITE-ProRule annotation
Metal bindingi10 – 101Zinc 1PROSITE-ProRule annotation
Metal bindingi24 – 241Zinc 1PROSITE-ProRule annotation
Metal bindingi27 – 271Zinc 2PROSITE-ProRule annotation
Metal bindingi42 – 421Zinc 2PROSITE-ProRule annotation
Metal bindingi43 – 431Zinc 2PROSITE-ProRule annotation
Metal bindingi59 – 591Zinc 2PROSITE-ProRule annotation
Metal bindingi64 – 641Zinc 1PROSITE-ProRule annotation
Metal bindingi149 – 1491Zinc 3PROSITE-ProRule annotation
Metal bindingi154 – 1541Zinc 3PROSITE-ProRule annotation
Metal bindingi168 – 1681Zinc 3PROSITE-ProRule annotation
Metal bindingi171 – 1711Zinc 4PROSITE-ProRule annotation
Metal bindingi186 – 1861Zinc 4PROSITE-ProRule annotation
Metal bindingi187 – 1871Zinc 4PROSITE-ProRule annotation
Metal bindingi203 – 2031Zinc 4PROSITE-ProRule annotation
Metal bindingi208 – 2081Zinc 3PROSITE-ProRule annotation

GO - Molecular functioni

GO - Biological processi

  • muscle organ development Source: ProtInc
  • signal transduction Source: ProtInc
Complete GO annotation...

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

SignaLinkiQ9UKP3.

Names & Taxonomyi

Protein namesi
Recommended name:
Integrin beta-1-binding protein 2
Alternative name(s):
Melusin
Gene namesi
ORF Names:MSTP015
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:6154. ITGB1BP2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA29954.

Polymorphism and mutation databases

BioMutaiITGB1BP2.
DMDMi20138790.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 347347Integrin beta-1-binding protein 2PRO_0000084267Add
BLAST

Proteomic databases

PaxDbiQ9UKP3.
PeptideAtlasiQ9UKP3.
PRIDEiQ9UKP3.

PTM databases

iPTMnetiQ9UKP3.
PhosphoSiteiQ9UKP3.

Expressioni

Tissue specificityi

Expressed in skeletal and cardiac muscles but not in other tissues.

Gene expression databases

BgeeiENSG00000147166.
CleanExiHS_ITGB1BP2.
GenevisibleiQ9UKP3. HS.

Organism-specific databases

HPAiHPA040721.

Interactioni

Subunit structurei

Interacts with beta-1 integrin subunit. This interaction is regulated by divalent cations, and it occurs only in absence of calcium.

Binary interactionsi

WithEntry#Exp.IntActNotes
RARAP102762EBI-5659717,EBI-413374

Protein-protein interaction databases

BioGridi117742. 10 interactions.
IntActiQ9UKP3. 22 interactions.
STRINGi9606.ENSP00000362935.

Structurei

3D structure databases

ProteinModelPortaliQ9UKP3.
SMRiQ9UKP3. Positions 1-68, 149-209, 216-305.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini5 – 6460CHORD 1PROSITE-ProRule annotationAdd
BLAST
Domaini149 – 20860CHORD 2PROSITE-ProRule annotationAdd
BLAST
Domaini215 – 30490CSPROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi28 – 314SH3-bindingSequence analysis
Motifi70 – 789SH3-bindingSequence analysis
Motifi158 – 1614SH2-bindingSequence analysis
Motifi172 – 1754SH3-bindingSequence analysis
Motifi234 – 2374SH2-bindingSequence analysis

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi5 – 5955Cys-richAdd
BLAST
Compositional biasi149 – 20355Cys-richAdd
BLAST
Compositional biasi320 – 34728Asp/Glu-rich (acidic)Add
BLAST

Domaini

The tail domain binds to the cytoplasmic domain of both integrin beta-1a and beta-1d isoforms. The presence of Ca2+ ions does not prevent binding of a fragment consisting of the second cysteine rich repeat and the tail domain but prevents the binding of the full-length protein.

Sequence similaritiesi

Contains 2 CHORD domains.PROSITE-ProRule annotation
Contains 1 CS domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, SH3-binding

Phylogenomic databases

eggNOGiKOG1667. Eukaryota.
ENOG410XPV6. LUCA.
GeneTreeiENSGT00390000005180.
HOGENOMiHOG000207093.
HOVERGENiHBG052156.
InParanoidiQ9UKP3.
KOiK16735.
OMAiTIYGQIP.
OrthoDBiEOG091G0BY9.
PhylomeDBiQ9UKP3.
TreeFamiTF105394.

Family and domain databases

Gene3Di2.60.40.790. 1 hit.
InterProiIPR007051. CHORD_dom.
IPR007052. CS_dom.
IPR008978. HSP20-like_chaperone.
[Graphical view]
PfamiPF04968. CHORD. 2 hits.
PF04969. CS. 1 hit.
[Graphical view]
SUPFAMiSSF49764. SSF49764. 1 hit.
PROSITEiPS51401. CHORD. 2 hits.
PS51203. CS. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9UKP3-1) [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
MSLLCRNKGC GQHFDPNTNL PDSCCHHPGV PIFHDALKGW SCCRKRTVDF
60 70 80 90 100
SEFLNIKGCT MGPHCAEKLP EAPQPEGPAT SSSLQEQKPL NVIPKSAETL
110 120 130 140 150
RRERPKSELP LKLLPLNISQ ALEMALEQKE LDQEPGAGLD SLIRTGSSCQ
160 170 180 190 200
NPGCDAVYQG PESDATPCTY HPGAPRFHEG MKSWSCCGIQ TLDFGAFLAQ
210 220 230 240 250
PGCRVGRHDW GKQLPASCRH DWHQTDSLVV VTVYGQIPLP AFNWVKASQT
260 270 280 290 300
ELHVHIVFDG NRVFQAQMKL WGVINVEQSS VFLMPSRVEI SLVKADPGSW
310 320 330 340
AQLEHPDALA KKARAGVVLE MDEEESDDSD DDLSWTEEEE EEEAMGE
Length:347
Mass (Da):38,382
Last modified:May 1, 2000 - v1
Checksum:i1D0A94931821E74D
GO
Isoform 2 (identifier: Q9UKP3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     3-21: LLCRNKGCGQHFDPNTNLP → T

Note: No experimental confirmation available.
Show »
Length:329
Mass (Da):36,374
Checksum:i90B4A0467B68A404
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei3 – 2119LLCRN…NTNLP → T in isoform 2. 1 PublicationVSP_056379Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF140690 mRNA. Translation: AAF01676.1.
AF110225 mRNA. Translation: AAL36913.1.
AL590762 Genomic DNA. No translation available.
BC108901 mRNA. Translation: AAI08902.1.
CCDSiCCDS14411.1. [Q9UKP3-1]
RefSeqiNP_001290206.1. NM_001303277.1.
NP_036410.1. NM_012278.2. [Q9UKP3-1]
UniGeneiHs.109999.

Genome annotation databases

EnsembliENST00000373829; ENSP00000362935; ENSG00000147166. [Q9UKP3-1]
ENST00000538820; ENSP00000440289; ENSG00000147166. [Q9UKP3-2]
GeneIDi26548.
KEGGihsa:26548.
UCSCiuc004dzr.2. human. [Q9UKP3-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF140690 mRNA. Translation: AAF01676.1.
AF110225 mRNA. Translation: AAL36913.1.
AL590762 Genomic DNA. No translation available.
BC108901 mRNA. Translation: AAI08902.1.
CCDSiCCDS14411.1. [Q9UKP3-1]
RefSeqiNP_001290206.1. NM_001303277.1.
NP_036410.1. NM_012278.2. [Q9UKP3-1]
UniGeneiHs.109999.

3D structure databases

ProteinModelPortaliQ9UKP3.
SMRiQ9UKP3. Positions 1-68, 149-209, 216-305.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117742. 10 interactions.
IntActiQ9UKP3. 22 interactions.
STRINGi9606.ENSP00000362935.

PTM databases

iPTMnetiQ9UKP3.
PhosphoSiteiQ9UKP3.

Polymorphism and mutation databases

BioMutaiITGB1BP2.
DMDMi20138790.

Proteomic databases

PaxDbiQ9UKP3.
PeptideAtlasiQ9UKP3.
PRIDEiQ9UKP3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000373829; ENSP00000362935; ENSG00000147166. [Q9UKP3-1]
ENST00000538820; ENSP00000440289; ENSG00000147166. [Q9UKP3-2]
GeneIDi26548.
KEGGihsa:26548.
UCSCiuc004dzr.2. human. [Q9UKP3-1]

Organism-specific databases

CTDi26548.
GeneCardsiITGB1BP2.
HGNCiHGNC:6154. ITGB1BP2.
HPAiHPA040721.
MIMi300332. gene.
neXtProtiNX_Q9UKP3.
PharmGKBiPA29954.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1667. Eukaryota.
ENOG410XPV6. LUCA.
GeneTreeiENSGT00390000005180.
HOGENOMiHOG000207093.
HOVERGENiHBG052156.
InParanoidiQ9UKP3.
KOiK16735.
OMAiTIYGQIP.
OrthoDBiEOG091G0BY9.
PhylomeDBiQ9UKP3.
TreeFamiTF105394.

Enzyme and pathway databases

SignaLinkiQ9UKP3.

Miscellaneous databases

GenomeRNAii26548.
PROiQ9UKP3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000147166.
CleanExiHS_ITGB1BP2.
GenevisibleiQ9UKP3. HS.

Family and domain databases

Gene3Di2.60.40.790. 1 hit.
InterProiIPR007051. CHORD_dom.
IPR007052. CS_dom.
IPR008978. HSP20-like_chaperone.
[Graphical view]
PfamiPF04968. CHORD. 2 hits.
PF04969. CS. 1 hit.
[Graphical view]
SUPFAMiSSF49764. SSF49764. 1 hit.
PROSITEiPS51401. CHORD. 2 hits.
PS51203. CS. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiITBP2_HUMAN
AccessioniPrimary (citable) accession number: Q9UKP3
Secondary accession number(s): Q32N04, Q549J7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 31, 2002
Last sequence update: May 1, 2000
Last modified: September 7, 2016
This is version 115 of the entry and version 1 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 X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. 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.