Mybpc1 myosin binding protein C, slow-type [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mybpc1provided by MGI
Official Full Name: myosin binding protein C, slow-typeprovided by MGI
Primary source: MGI:MGI:1336213
See related: Ensembl:ENSMUSG00000020061 AllianceGenome:MGI:1336213
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 8030451F13Rik
Summary: Predicted to enable myosin binding activity. Predicted to be involved in sarcomere organization. Predicted to act upstream of or within muscle contraction. Predicted to be located in cytoskeleton. Predicted to be active in M band. Is expressed in several structures, including brain; hindlimb; reproductive system; skeletal musculature; and urinary system. Used to study congenital myopathy. Human ortholog(s) of this gene implicated in congenital myopathy 16; distal arthrogryposis type 1B; and lethal congenital contracture syndrome 4. Orthologous to human MYBPC1 (myosin binding protein C1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in limb E14.5 (RPKM 9.6), mammary gland adult (RPKM 6.9) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 C1; 10 43.99 cM

Exon count:: 35

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (88354141..88441051, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (88518279..88605229, complement)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Fast and slow skeletal myosin binding protein-C and aging.
Title: Fast and slow skeletal myosin binding protein-C and aging.
Sarcomeric deficits underlie MYBPC1-associated myopathy with myogenic tremor.
Title: Sarcomeric deficits underlie MYBPC1-associated myopathy with myogenic tremor.
Data show that the NH2 and COOH termini of myosin binding protein C slow type (sMyBP-C) have distinct functions, which are regulated by differential splicing, and are compromized by the presence of missense point mutations linked to muscle disease.
Title: Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10Mit209 (e-PCR), detects polymorphism
- UniSTS:126110

D10Mit263 (e-PCR), detects polymorphism
- UniSTS:126168

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables myosin binding	ISO Inferred from Sequence Orthology more info
enables structural constituent of cytoskeleton	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within muscle contraction	TAS Traceable Author Statement more info	PubMed
involved_in sarcomere organization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in M band	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoskeleton	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: myosin-binding protein C, slow-type

Names: MyBP-C slow; Slow-type C-protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001252372.1 → NP_001239301.1 myosin-binding protein C, slow-type isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).

Source sequence(s)

AK132188, BB669565, BC062158, BY135230

Consensus CDS

CCDS56739.1

UniProtKB/TrEMBL

A0A571BEN1, D3YU50

Related

ENSMUSP00000112699.2, ENSMUST00000119185.8

Conserved Domains (8) summary

cd00096
Location:1033 → 1098

Ig; Immunoglobulin domain

cd05894
Location:518 → 603

Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)

smart00410
Location:521 → 603

IG_like; Immunoglobulin like

cd00063
Location:607 → 696

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:1016 → 1105

I-set; Immunoglobulin I-set domain

pfam00047
Location:51 → 135

ig; Immunoglobulin domain

pfam03755
Location:136 → 235

YicC_N; YicC-like family, N-terminal region

cl11960
Location:826 → 883

Ig; Immunoglobulin domain
NM_175418.5 → NP_780627.2 myosin-binding protein C, slow-type isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 2) has a distinct C-terminus and is shorter than isoform 1.

Source sequence(s)

BB669565, BC062158, BY135230

Consensus CDS

CCDS48666.1

UniProtKB/TrEMBL

A0A571BEN1, Q6P6L5

Related

ENSMUSP00000112615.2, ENSMUST00000121629.8

Conserved Domains (8) summary

cd00096
Location:1047 → 1112

Ig; Immunoglobulin domain

cd05894
Location:532 → 617

Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)

smart00410
Location:535 → 617

IG_like; Immunoglobulin like

cd00063
Location:621 → 710

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:1030 → 1119

I-set; Immunoglobulin I-set domain

pfam00047
Location:65 → 149

ig; Immunoglobulin domain

pfam03755
Location:150 → 249

YicC_N; YicC-like family, N-terminal region

cl11960
Location:840 → 897

Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000076.7 Reference GRCm39 C57BL/6J

Range

88354141..88441051 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006513045.5 → XP_006513108.1 myosin-binding protein C, slow-type isoform X1

UniProtKB/TrEMBL

A0A571BEN1

Conserved Domains (6) summary

cd05894
Location:557 → 642

Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)

smart00410
Location:90 → 185

IG_like; Immunoglobulin like

cd00063
Location:646 → 735

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:1073 → 1162

I-set; Immunoglobulin I-set domain

pfam18362
Location:235 → 268

THB; Tri-helix bundle domain

cl11960
Location:882 → 940

Ig; Immunoglobulin domain
XM_006513047.5 → XP_006513110.1 myosin-binding protein C, slow-type isoform X2

UniProtKB/TrEMBL

A0A571BEN1

Conserved Domains (6) summary

cd05894
Location:557 → 642

Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)

smart00410
Location:90 → 185

IG_like; Immunoglobulin like

cd00063
Location:646 → 735

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:1073 → 1162

I-set; Immunoglobulin I-set domain

pfam18362
Location:235 → 268

THB; Tri-helix bundle domain

cl11960
Location:882 → 940

Ig; Immunoglobulin domain
XM_006513053.5 → XP_006513116.1 myosin-binding protein C, slow-type isoform X8

UniProtKB/TrEMBL

A0A571BEN1

Conserved Domains (6) summary

cd05894
Location:531 → 616

Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)

smart00410
Location:64 → 159

IG_like; Immunoglobulin like

cd00063
Location:620 → 709

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:1047 → 1136

I-set; Immunoglobulin I-set domain

pfam18362
Location:209 → 242

THB; Tri-helix bundle domain

cl11960
Location:856 → 914

Ig; Immunoglobulin domain
XM_006513049.5 → XP_006513112.1 myosin-binding protein C, slow-type isoform X4

UniProtKB/TrEMBL

A0A571BEN1

Conserved Domains (6) summary

cd05894
Location:543 → 628

Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)

smart00410
Location:76 → 171

IG_like; Immunoglobulin like

cd00063
Location:632 → 721

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:1059 → 1148

I-set; Immunoglobulin I-set domain

pfam18362
Location:221 → 254

THB; Tri-helix bundle domain

cl11960
Location:868 → 926

Ig; Immunoglobulin domain
XM_006513052.5 → XP_006513115.1 myosin-binding protein C, slow-type isoform X7

UniProtKB/TrEMBL

A0A571BEN1

Conserved Domains (6) summary

cd05894
Location:532 → 617

Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)

smart00410
Location:65 → 160

IG_like; Immunoglobulin like

cd00063
Location:621 → 710

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:1048 → 1137

I-set; Immunoglobulin I-set domain

pfam18362
Location:210 → 243

THB; Tri-helix bundle domain

cl11960
Location:857 → 915

Ig; Immunoglobulin domain
XM_036155497.1 → XP_036011390.1 myosin-binding protein C, slow-type isoform X12

UniProtKB/TrEMBL

A0A571BEN1

Conserved Domains (6) summary

cd00063
Location:621 → 710

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:1048 → 1137

I-set; Immunoglobulin I-set domain

pfam18362
Location:210 → 243

THB; Tri-helix bundle domain

cd00096
Location:61 → 64

Ig; Ig strand A [structural motif]

cd05894
Location:532 → 617

Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)

cl11960
Location:60 → 160

Ig; Immunoglobulin domain
XM_006513046.5 → XP_006513109.1 myosin-binding protein C, slow-type isoform X3

UniProtKB/TrEMBL

A0A571BEN1

Conserved Domains (6) summary

cd05894
Location:545 → 630

Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)

smart00410
Location:78 → 173

IG_like; Immunoglobulin like

cd00063
Location:634 → 723

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:1061 → 1150

I-set; Immunoglobulin I-set domain

pfam18362
Location:223 → 256

THB; Tri-helix bundle domain

cl11960
Location:870 → 928

Ig; Immunoglobulin domain
XM_006513054.5 → XP_006513117.1 myosin-binding protein C, slow-type isoform X9

UniProtKB/TrEMBL

A0A571BEN1

Conserved Domains (6) summary

cd05894
Location:557 → 642

Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)

smart00409
Location:90 → 185

IG; Immunoglobulin

cd00063
Location:646 → 735

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:1073 → 1162

I-set; Immunoglobulin I-set domain

pfam18362
Location:235 → 268

THB; Tri-helix bundle domain

cl11960
Location:882 → 940

Ig; Immunoglobulin domain
XM_006513057.5 → XP_006513120.1 myosin-binding protein C, slow-type isoform X13

UniProtKB/TrEMBL

A0A571BEN1

Conserved Domains (6) summary

cd05894
Location:518 → 603

Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)

smart00410
Location:51 → 146

IG_like; Immunoglobulin like

cd00063
Location:607 → 696

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:1034 → 1123

I-set; Immunoglobulin I-set domain

pfam18362
Location:196 → 229

THB; Tri-helix bundle domain

cl11960
Location:843 → 901

Ig; Immunoglobulin domain
XM_006513050.5 → XP_006513113.1 myosin-binding protein C, slow-type isoform X6

UniProtKB/TrEMBL

A0A571BEN1

Conserved Domains (6) summary

cd05894
Location:557 → 642

Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)

smart00410
Location:90 → 185

IG_like; Immunoglobulin like

cd00063
Location:646 → 735

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:1055 → 1144

I-set; Immunoglobulin I-set domain

pfam18362
Location:235 → 268

THB; Tri-helix bundle domain

cl11960
Location:864 → 922

Ig; Immunoglobulin domain
XM_036155496.1 → XP_036011389.1 myosin-binding protein C, slow-type isoform X10

UniProtKB/TrEMBL

A0A571BEN1

Conserved Domains (6) summary

cd00063
Location:646 → 735

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:1055 → 1144

I-set; Immunoglobulin I-set domain

pfam18362
Location:235 → 268

THB; Tri-helix bundle domain

cd00096
Location:86 → 89

Ig; Ig strand A [structural motif]

cd05894
Location:557 → 642

Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)

cl11960
Location:85 → 185

Ig; Immunoglobulin domain
XM_030244822.2 → XP_030100682.1 myosin-binding protein C, slow-type isoform X16

UniProtKB/TrEMBL

A0A571BEN1

Related

ENSMUSP00000158844.2, ENSMUST00000238199.2

Conserved Domains (6) summary

cd05894
Location:531 → 616

Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)

smart00410
Location:64 → 159

IG_like; Immunoglobulin like

cd00063
Location:620 → 709

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:1029 → 1118

I-set; Immunoglobulin I-set domain

pfam18362
Location:209 → 242

THB; Tri-helix bundle domain

cl11960
Location:838 → 896

Ig; Immunoglobulin domain
XM_006513058.5 → XP_006513121.1 myosin-binding protein C, slow-type isoform X15

UniProtKB/TrEMBL

A0A571BEN1

Conserved Domains (6) summary

cd05894
Location:532 → 617

Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)

smart00410
Location:65 → 160

IG_like; Immunoglobulin like

cd00063
Location:621 → 710

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:1030 → 1119

I-set; Immunoglobulin I-set domain

pfam18362
Location:210 → 243

THB; Tri-helix bundle domain

cl11960
Location:839 → 897

Ig; Immunoglobulin domain
XM_036155499.1 → XP_036011392.1 myosin-binding protein C, slow-type isoform X18

UniProtKB/TrEMBL

A0A571BEN1

Conserved Domains (6) summary

cd00063
Location:621 → 710

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:1030 → 1119

I-set; Immunoglobulin I-set domain

pfam18362
Location:210 → 243

THB; Tri-helix bundle domain

cd00096
Location:61 → 64

Ig; Ig strand A [structural motif]

cd05894
Location:532 → 617

Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)

cl11960
Location:60 → 160

Ig; Immunoglobulin domain
XM_006513055.5 → XP_006513118.1 myosin-binding protein C, slow-type isoform X11

UniProtKB/TrEMBL

A0A571BEN1

Conserved Domains (6) summary

cd05894
Location:545 → 630

Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)

smart00410
Location:78 → 173

IG_like; Immunoglobulin like

cd00063
Location:634 → 723

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:1043 → 1132

I-set; Immunoglobulin I-set domain

pfam18362
Location:223 → 256

THB; Tri-helix bundle domain

cl11960
Location:852 → 910

Ig; Immunoglobulin domain
XM_036155498.1 → XP_036011391.1 myosin-binding protein C, slow-type isoform X17

UniProtKB/TrEMBL

A0A571BEN1

Conserved Domains (6) summary

cd00063
Location:646 → 735

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:1055 → 1144

I-set; Immunoglobulin I-set domain

pfam18362
Location:235 → 268

THB; Tri-helix bundle domain

cd00096
Location:86 → 89

Ig; Ig strand A [structural motif]

cd05894
Location:557 → 642

Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)

cl11960
Location:85 → 185

Ig; Immunoglobulin domain
XM_006513056.3 → XP_006513119.1 myosin-binding protein C, slow-type isoform X14

UniProtKB/TrEMBL

A0A571BEN1

Conserved Domains (6) summary

cd05894
Location:518 → 603

Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)

smart00410
Location:51 → 146

IG_like; Immunoglobulin like

cd00063
Location:607 → 696

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:1034 → 1123

I-set; Immunoglobulin I-set domain

pfam18362
Location:196 → 229

THB; Tri-helix bundle domain

cl11960
Location:843 → 901

Ig; Immunoglobulin domain
XM_006513048.3 → XP_006513111.1 myosin-binding protein C, slow-type isoform X5

UniProtKB/TrEMBL

A0A571BEN1

Conserved Domains (6) summary

cd05894
Location:543 → 628

Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)

smart00410
Location:76 → 171

IG_like; Immunoglobulin like

cd00063
Location:632 → 721

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07679
Location:1059 → 1148

I-set; Immunoglobulin I-set domain

pfam18362
Location:221 → 254

THB; Tri-helix bundle domain

cl11960
Location:868 → 926

Ig; Immunoglobulin domain