Hmcn1 hemicentin 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hmcn1provided by MGI
Official Full Name: hemicentin 1provided by MGI
Primary source: MGI:MGI:2685047
See related: Ensembl:ENSMUSG00000066842 AllianceGenome:MGI:2685047
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: Gm201; FIBL-6; EG545370
Summary: Predicted to enable calcium ion binding activity. Predicted to be an extracellular matrix structural constituent. Involved in basement membrane organization. Acts upstream of or within response to bacterium. Located in several cellular components, including basement membrane; cell cortex; and muscle tendon junction. Is expressed in several structures, including early embryo; extracellular matrix; limb; metanephros; and skin. Human ortholog(s) of this gene implicated in age related macular degeneration 1. Orthologous to human HMCN1 (hemicentin 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in lung adult (RPKM 6.3), limb E14.5 (RPKM 5.8) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 G1; 1 63.84 cM

Exon count:: 108

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (150438251..150869568, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (150562500..150993652, complement)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Identify HMCN1 as a new molecule involved in the dynamic changes of podocyte foot processes in glomerular disease.
Title: Hemicentin 1 influences podocyte dynamic changes in glomerular diseases.
In fibulin-6 knockdown fibroblasts TGF-beta dependent migration, stress fiber formation, cellular networking and subsequently fibroblast wound contraction is almost abrogated.
Title: Fibulin-6 regulates pro-fibrotic TGF-β responses in neonatal mouse ventricular cardiac fibroblasts.
Fibulin-6, a fibroblast-released extracellular matrix protein, may play an important role during myocardial remodelling by imparting an effect on cardiac fibroblasts migration in close and complementary interplay with TGF-beta1 signalling
Title: Expression of fibulin-6 in failing hearts and its role for cardiac fibroblast migration.
This study showed that extracellular hemicentin-1[Hmcn1] assemble at the cleavage furrow of dividing cells in the C. elegans germline and in preimplantation mouse embryos.
Title: A secreted protein promotes cleavage furrow maturation during cytokinesis.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (8) 1 citation
Targeted (2) 1 citation

General gene information

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Markers

NoName (e-PCR)
- UniSTS:548363

D13M1Mit195 (e-PCR)
- UniSTS:128533

D1Mit195 (e-PCR), detects polymorphism
- UniSTS:128533

D19Dcr2 (e-PCR), detects polymorphism
- UniSTS:507551

D1Mit346 (e-PCR), detects polymorphism
- UniSTS:128705

Hmcn1 (e-PCR), detects polymorphism
- UniSTS:532674

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in actin cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in basement membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IBA Inferred from Biological aspect of Ancestor more info
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within response to bacterium	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
is_active_in adherens junction	IBA Inferred from Biological aspect of Ancestor more info
located_in basement membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cell cortex	IDA Inferred from Direct Assay more info	PubMed
located_in cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in cleavage furrow	IEA Inferred from Electronic Annotation more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in muscle tendon junction	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: hemicentin-1

Names: fibulin-6

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_001024720.4 → NP_001019891.2 hemicentin-1 precursor

Status: VALIDATED

Source sequence(s)

AC111145, AC113326, AC115051, AC124120

Consensus CDS

CCDS15357.2

UniProtKB/Swiss-Prot

D3YXG0, D3Z2Q7

Related

ENSMUSP00000074340.6, ENSMUST00000074783.12

Conserved Domains (13) summary

cd00096
Location:1188 → 1254

Ig; Immunoglobulin domain

smart00408
Location:2492 → 2556

IGc2; Immunoglobulin C-2 Type

smart00179
Location:5431 → 5470

EGF_CA; Calcium-binding EGF-like domain

smart00209
Location:4588 → 4640

TSP1; Thrombospondin type 1 repeats

smart00409
Location:1459 → 1541

IG; Immunoglobulin

smart00410
Location:1833 → 1914

IG_like; Immunoglobulin like

smart00682
Location:4867 → 5091

G2F; G2 nidogen domain and fibulin

cd00054
Location:5229 → 5262

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam07679
Location:2477 → 2566

I-set; Immunoglobulin I-set domain

pfam00047
Location:528 → 606

ig; Immunoglobulin domain

pfam07645
Location:5271 → 5312

EGF_CA; Calcium-binding EGF domain

pfam13519
Location:42 → 212

VWA_2; von Willebrand factor type A domain

cl11960
Location:3243 → 3337

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_000067.7 Reference GRCm39 C57BL/6J

Range

150438251..150869568 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006529758.5 → XP_006529821.1 hemicentin-1 isoform X2

Related

ENSMUSP00000121500.3, ENSMUST00000137197.9

Conserved Domains (12) summary

smart00179
Location:5338 → 5377

EGF_CA; Calcium-binding EGF-like domain

smart00209
Location:4612 → 4664

TSP1; Thrombospondin type 1 repeats

smart00409
Location:3558 → 3639

IG; Immunoglobulin

smart00410
Location:1459 → 1541

IG_like; Immunoglobulin like

smart00682
Location:4891 → 5115

G2F; G2 nidogen domain and fibulin

cd00054
Location:5253 → 5286

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00198
Location:42 → 198

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

pfam07645
Location:5295 → 5336

EGF_CA; Calcium-binding EGF domain

cd00096
Location:3192 → 3260

Ig; Immunoglobulin domain

pfam07679
Location:2501 → 2590

I-set; Immunoglobulin I-set domain

pfam13927
Location:2313 → 2390

Ig_3; Immunoglobulin domain

cl11960
Location:3267 → 3361

Ig; Immunoglobulin domain
XM_006529757.5 → XP_006529820.1 hemicentin-1 isoform X1

Conserved Domains (11) summary

smart00179
Location:5455 → 5494

EGF_CA; Calcium-binding EGF-like domain

smart00209
Location:4612 → 4664

TSP1; Thrombospondin type 1 repeats

smart00410
Location:1459 → 1541

IG_like; Immunoglobulin like

smart00682
Location:4891 → 5115

G2F; G2 nidogen domain and fibulin

cd00054
Location:5253 → 5286

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00198
Location:42 → 198

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

pfam07645
Location:5295 → 5336

EGF_CA; Calcium-binding EGF domain

cd00096
Location:3192 → 3260

Ig; Immunoglobulin domain

pfam07679
Location:2501 → 2590

I-set; Immunoglobulin I-set domain

pfam13927
Location:2313 → 2390

Ig_3; Immunoglobulin domain

cl11960
Location:3267 → 3361

Ig; Immunoglobulin domain
XM_011248051.3 → XP_011246353.1 hemicentin-1 isoform X3

Conserved Domains (11) summary

smart00179
Location:4810 → 4849

EGF_CA; Calcium-binding EGF-like domain

smart00209
Location:3967 → 4019

TSP1; Thrombospondin type 1 repeats

smart00409
Location:2913 → 2994

IG; Immunoglobulin

smart00410
Location:814 → 896

IG_like; Immunoglobulin like

smart00682
Location:4246 → 4470

G2F; G2 nidogen domain and fibulin

cd00054
Location:4608 → 4641

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam07645
Location:4650 → 4691

EGF_CA; Calcium-binding EGF domain

cd00096
Location:2547 → 2615

Ig; Immunoglobulin domain

pfam07679
Location:1856 → 1945

I-set; Immunoglobulin I-set domain

pfam13927
Location:1668 → 1745

Ig_3; Immunoglobulin domain

cl11960
Location:2622 → 2716

Ig; Immunoglobulin domain