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Hmcn1 hemicentin 1 [ Mus musculus (house mouse) ]

Gene ID: 545370, updated on 14-Apr-2024

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. Acts upstream of or within response to bacterium. Located in several cellular components, including basement membrane; cell cortex; and extracellular region. Is expressed in several structures, including brain; early embryo; olfactory epithelium; skin; and tongue. 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, Apr 2022]
Expression
Broad expression in lung adult (RPKM 6.3), limb E14.5 (RPKM 5.8) and 16 other tissues See more
Orthologs
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Genomic context

See Hmcn1 in Genome Data Viewer
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_000067.7Genomic Context describing neighboring genes Neighboring gene spindle and kinetochore associated complex subunit 2-like, pseudogene Neighboring gene predicted gene, 33818 Neighboring gene STARR-positive B cell enhancer mm9_chr1:152856440-152856740 Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:152872392-152872545 Neighboring gene predicted gene, 36297 Neighboring gene predicted gene, 22756 Neighboring gene predicted gene, 36139 Neighboring gene predicted gene, 36077

Genomic regions, transcripts, and products

Expression

  • 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

Variation

Alleles

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

General gene information

Markers

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 
Component Evidence Code Pubs
is_active_in adherens junction IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in anchoring junction IEA
Inferred from Electronic Annotation
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 collagen-containing extracellular matrix HDA 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

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)

  1. NM_001024720.4NP_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:11881254
    Ig; Immunoglobulin domain
    smart00408
    Location:24922556
    IGc2; Immunoglobulin C-2 Type
    smart00179
    Location:54315470
    EGF_CA; Calcium-binding EGF-like domain
    smart00209
    Location:45884640
    TSP1; Thrombospondin type 1 repeats
    smart00409
    Location:14591541
    IG; Immunoglobulin
    smart00410
    Location:18331914
    IG_like; Immunoglobulin like
    smart00682
    Location:48675091
    G2F; G2 nidogen domain and fibulin
    cd00054
    Location:52295262
    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:24772566
    I-set; Immunoglobulin I-set domain
    pfam00047
    Location:528606
    ig; Immunoglobulin domain
    pfam07645
    Location:52715312
    EGF_CA; Calcium-binding EGF domain
    pfam13519
    Location:42212
    VWA_2; von Willebrand factor type A domain
    cl11960
    Location:32433337
    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

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    150438251..150869568 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Related
    ENSMUSP00000121500.3, ENSMUST00000137197.9
    Conserved Domains (12) summary
    smart00179
    Location:53385377
    EGF_CA; Calcium-binding EGF-like domain
    smart00209
    Location:46124664
    TSP1; Thrombospondin type 1 repeats
    smart00409
    Location:35583639
    IG; Immunoglobulin
    smart00410
    Location:14591541
    IG_like; Immunoglobulin like
    smart00682
    Location:48915115
    G2F; G2 nidogen domain and fibulin
    cd00054
    Location:52535286
    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:42198
    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:52955336
    EGF_CA; Calcium-binding EGF domain
    cd00096
    Location:31923260
    Ig; Immunoglobulin domain
    pfam07679
    Location:25012590
    I-set; Immunoglobulin I-set domain
    pfam13927
    Location:23132390
    Ig_3; Immunoglobulin domain
    cl11960
    Location:32673361
    Ig; Immunoglobulin domain
  2. XM_006529757.5XP_006529820.1  hemicentin-1 isoform X1

    Conserved Domains (11) summary
    smart00179
    Location:54555494
    EGF_CA; Calcium-binding EGF-like domain
    smart00209
    Location:46124664
    TSP1; Thrombospondin type 1 repeats
    smart00410
    Location:14591541
    IG_like; Immunoglobulin like
    smart00682
    Location:48915115
    G2F; G2 nidogen domain and fibulin
    cd00054
    Location:52535286
    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:42198
    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:52955336
    EGF_CA; Calcium-binding EGF domain
    cd00096
    Location:31923260
    Ig; Immunoglobulin domain
    pfam07679
    Location:25012590
    I-set; Immunoglobulin I-set domain
    pfam13927
    Location:23132390
    Ig_3; Immunoglobulin domain
    cl11960
    Location:32673361
    Ig; Immunoglobulin domain
  3. XM_011248051.3XP_011246353.1  hemicentin-1 isoform X3

    Conserved Domains (11) summary
    smart00179
    Location:48104849
    EGF_CA; Calcium-binding EGF-like domain
    smart00209
    Location:39674019
    TSP1; Thrombospondin type 1 repeats
    smart00409
    Location:29132994
    IG; Immunoglobulin
    smart00410
    Location:814896
    IG_like; Immunoglobulin like
    smart00682
    Location:42464470
    G2F; G2 nidogen domain and fibulin
    cd00054
    Location:46084641
    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:46504691
    EGF_CA; Calcium-binding EGF domain
    cd00096
    Location:25472615
    Ig; Immunoglobulin domain
    pfam07679
    Location:18561945
    I-set; Immunoglobulin I-set domain
    pfam13927
    Location:16681745
    Ig_3; Immunoglobulin domain
    cl11960
    Location:26222716
    Ig; Immunoglobulin domain

RNA

  1. XR_387184.5 RNA Sequence