COLEC11 - collectin subfamily member 11 Gene

Also Known as 3MC2; CLK1; CL-11; CL-K1-I; CL-K1-II; CL-K1-IIa; CL-K1-IIb

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 78989

About COLEC11

Cytogenetic location: 2p25.3 Genomic coordinates (GRCh38): 2:3,595,112-3,644,644 (from NCBI)

This gene has 13 transcripts (splice variants), 198 orthologues, 4 paralogues and is associated with 3 phenotypes. Biased expression in gall bladder (RPKM 20.2), liver (RPKM 13.5) and 9 other tissues.

Summary

This gene encodes a member of the collectin family of C-type lectins that possess collagen-like sequences and carbohydrate recognition domains. Collectins are secreted proteins that play important roles in the innate immune system by binding to carbohydrate antigens on Microorganisms, facilitating their recognition and removal. The encoded protein binds to multiple sugars with a preference for fucose and mannose. Mutations in this gene are a cause of 3MC syndrome-2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

COLEC11 Products (10)

mRNA Protein Name
NM_001255982.2 NP_001242911.1 collectin-11 isoform c precursor
NM_001255983.2 NP_001242912.1 collectin-11 isoform d precursor
NM_001255984.2 NP_001242913.1 collectin-11 isoform e precursor
NM_001255985.1 NP_001242914.1 collectin-11 isoform f precursor
NM_001255986.1 NP_001242915.1 collectin-11 isoform g
NM_001255987.1 NP_001242916.1 collectin-11 isoform h
NM_001255988.1 NP_001242917.1 collectin-11 isoform i
NM_001255989.1 NP_001242918.1 collectin-11 isoform j
NM_024027.5 NP_076932.1 collectin-11 isoform a precursor
NM_199235.3 NP_954705.1 collectin-11 isoform b
Molecular Function GO Annotation Evidence References Source
enables D-mannose binding IDA
IDA: Inferred from direct assay
20956340 GOA
enables DNA binding IDA
IDA: Inferred from direct assay
20956340 GOA
enables calcium ion binding IDA
IDA: Inferred from direct assay
25912189 GOA
enables calcium-dependent carbohydrate binding IDA
IDA: Inferred from direct assay
25912189 GOA
enables fucose binding IDA
IDA: Inferred from direct assay
20956340 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
20956340 GOA
enables oligosaccharide binding IDA
IDA: Inferred from direct assay
25912189 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
20956340 GOA
Biological Process GO Annotation Evidence References Source
involved in antimicrobial humoral response IDA
IDA: Inferred from direct assay
20956340 GOA
involved in complement activation IDA
IDA: Inferred from direct assay
23954398 GOA
involved in complement activation, lectin pathway IDA
IDA: Inferred from direct assay
24174618 GOA
involved in complement activation, lectin pathway IMP
IMP: Inferred from mutant phenotype
25912189 GOA
involved in positive regulation of opsonization IDA
IDA: Inferred from direct assay
24174618 GOA
involved in proteolysis IDA
IDA: Inferred from direct assay
24174618 GOA
Cellular Component GO Annotation Evidence References Source
located in extracellular space IDA
IDA: Inferred from direct assay
25912189 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

COLEC11 Protein Structure

Collagen

Collagen: Collagen triple helix repeat (20 copies) (41 - 92)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (62 - 111)

Lectin_C

Lectin_C: Lectin C-type domain (160 - 266)

  • 0
  • 100
  • 200
  • 271 a.a.
Protein Preferred Names Protein Names

collectin-11

  • Collectin K1

COLEC11 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
COLEC11 Q9BWP8 MASP1 Homo sapiens P48740-1 24174618
Intra
COLEC11 Q9BWP8 COLEC10 Homo sapiens Q9Y6Z7 24174618
Intra
COLEC11 Q9BWP8 MASP1 Homo sapiens P48740 20956340
Intra
COLEC11 Q9BWP8 Q9BWP8-PRO_0000315044 Homo sapiens Q9BWP8-PRO_0000315044 24174618
Intra
COLEC11 Q9BWP8 MASP2 Homo sapiens O00187 24174618
Intra
COLEC11 Q9BWP8 COLEC11 Homo sapiens Q9BWP8
GMS
20956340
Intra
COLEC11 Q9BWP8 MASP1 Homo sapiens P48740-2 24174618
Intra
COLEC11 Q9BWP8 MASP1 Homo sapiens P48740 24174618
Intra
COLEC11 Q9BWP8 COLEC11 Homo sapiens Q9BWP8 24174618
Intra
COLEC11 Q9BWP8 Q9Y6Z7-PRO_0000314233 Homo sapiens Q9Y6Z7-PRO_0000314233 24174618
Intra
COLEC11 Q9BWP8 Q9BWP8-PRO_0000315044 Homo sapiens Q9BWP8-PRO_0000315044 24174618
Intra
COLEC11 Q9BWP8 COLEC11 Homo sapiens Q9BWP8 20956340
Intra
COLEC11 Q9BWP8 Q9Y6Z7-PRO_0000314233 Homo sapiens Q9Y6Z7-PRO_0000314233 24174618
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant COLEC11 Proteins

Cat. No. Product Name Accession Purity
HY-P70100 Collectin-11/CL-K1 Protein, Human (HEK293, His) Q9BWP8 (Q26-M271) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
3mc Syndrome 2
  • 3MC2

  • Ptosis Of Eyelids With Diastasis Recti And Hip Dysplasia

  • Oculo-Skeletal-Abdominal Syndrome

  • Osa Syndrome

  • Carnevale Syndrome

  • Carnevale Syndrome, Formerly

  • Carnevale Krajewska Fischetto Syndrome

  • 3mc Syndrome, Type 2

3mc Syndrome
  • Craniofacial-Ulnar-Renal Syndrome

  • Malpuech Facial Clefting Syndrome

  • Oculopalatoskeletal Syndrome

  • Carnevale Syndrome

  • Michels Syndrome

  • Malpuech-Michels-Mingarelli-Carnevale Syndrome

  • Carnevale-Krajewska-Fischetto Syndrome

  • Craniosynostosis With Lid Anomalies

  • Malpuech Syndrome

  • Mingarelli Syndrome

  • Oculo-Skeletal-Abdominal Syndrome

  • Osa Syndrome

  • Ptosis Of Eyelids With Diastasis Recti And Hip Dysplasia

  • Ptosis-Strabismus-Rectus Abdominis Diastasis

Learning Disability
  • Learning Disabilities

  • Learning Disorders

  • Academic Skill Disorder

  • Learning Disorder

3mc Syndrome 1
  • Oculopalatoskeletal Syndrome

  • 3MC1

  • Craniosynostosis With Lid Anomalies

  • Michels Syndrome, Formerly

  • Michels Syndrome

  • 3mc Syndrome, Type 1

Blepharophimosis
Properdin Deficiency, X-Linked
  • Properdin Deficiency

  • PFD

  • CFPD

  • Properdin P Factor Deficiency

  • Complement Factor Properdin Deficiency

  • X-Linked Properdin Deficiency

  • Properdin Deficiency, Type I

  • Properdin Deficiency, Type 1

  • Properdin Deficiency Disease

Van Maldergem Syndrome 1
  • Cerebrofacioarticular Syndrome

  • VMLDS1

  • Van Maldergem Syndrome

  • Cerebro-Facio-Articular Syndrome

  • Van Maldergem Wetzburger Verloes Syndrome

Radioulnar Synostosis
  • Radio-Ulnar Synostosis Type 1

Coffin-Siris Syndrome 9
  • Mrd27

  • CSS9

  • Mental Retardation, Autosomal Dominant 27

  • Autosomal Dominant Mental Retardation 27

  • Autosomal Dominant Non-Syndromic Intellectual Disability 27

  • Coffin-Siris Syndrome, Type 9

Craniosynostosis
  • Premature Closure Of Cranial Sutures

  • Craniostenosis

  • Craniosynostosis Syndrome

  • Cso

  • Craniosynostoses

  • Congenital Ossification Of Cranial Sutures

  • Congenital Ossification Of Sutures Of Skull

  • Craniostosis

  • Imperfect Fusion Of Skull

  • Congenital Imperfect Closure Skull

  • Imperfect Closure Skull

  • Premature Closure Cranium Sutures

  • Deficiency Of Craniofacial Axis

Urinary Schistosomiasis
  • Schistosoma Haematobium Infection

  • Schistosoma Hematobium Infection

  • Schistosomiasis Due To Schistosoma Haematobium

  • Bladder Schistosomiasis

  • Cystitis With Bilharziasis

  • Schistosoma Haematobium

  • Schistosoma Hematobium Infectious Disease

  • Schistosomiasis Of Bladder

  • Vesical Schistosomiasis

  • Schistosomiasis Urinary

  • Schistosomiasis Haematobia

  • Genitourinary Bilharziasis

  • Genitourinary Tract Schistosomiasis

  • Schistosomiasis Due To Schistosoma Haematobium [Urinary Schistosomiasis]

  • Haematochyluria In Schistosomiasis

  • Infection Due To Schistosoma Matthei

Angioedema, Hereditary, 1
  • Hereditary Angioedema Type I

  • Hereditary Angioneurotic Edema

  • Hane

  • C1 Esterase Inhibitor Deficiency

  • Angioedema, Hereditary, 1 And 2

  • HAE1

  • Angioneurotic Edema, Hereditary

  • Angioedema, Hereditary, Type I

  • Hereditary Angioedema Type 2

  • Hae 2

  • Hae-Ii

  • Hereditary Angioneurotic Edema Type 2

  • Angioedema, Hereditary

  • HAE

  • Angioedema, Hereditary, Types I And Ii

  • Hereditary Angioedema, Type Ii

  • Angioedema, Hereditary, Type 1

  • Angioedemas, Hereditary

  • Hereditary C1 Esterase Inhibitor Deficiency - Dysfunctional Factor

  • Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor

  • Hereditary Angioedema Types I And Ii

Hypertelorism
  • Eyes Wide Apart

  • Eyes Widely Set

  • Hypertelorism Of Orbit

  • Ocular Hypertelorism

  • Orbital Separation Excessive

Hemolytic Uremic Syndrome, Atypical 1
  • Atypical Hemolytic-Uremic Syndrome

  • Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1

  • Atypical Hemolytic Uremic Syndrome

  • Hemolytic Uremic Syndrome, Atypical, Susceptibility To

  • Ahus

  • AHUS1

  • Hemolytic-Uremic Syndrome

  • Ahus 1

  • Ahus, Susceptibility To, 1

  • Hemolytic Uremic Syndrome, Atypical

  • Non-Shiga-Like Toxin-Associated Hus

  • Non-Stx-Hus

  • Nonenteropathic Hus

  • Atypical Hus

  • Shiga Toxin-Associated Hemolytic Uremic Syndrome

  • D+ Hus

  • Ehec-Hus

  • Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli

  • Hemolytic Uremic Syndrome With Diarrhea

  • Stec-Hus

  • Shiga-Like Toxin-Associated Hus

  • Stx-Hus

  • Typical Hus

  • Typical Hemolytic Uremic Syndrome

  • Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies

  • Atypical Hus With Anti-Factor H Antibodies

  • Ahus With Anti-Factor H Antibodies

  • Ahus With Neutralizing Autoantibodies Against Factor H

  • Hemolytic Uremic Syndrome Atypical 1

  • Atypical Hemolytic Uremic Syndrome With H Factor Anomaly

  • D Hus

  • Hemolytic-Uremic Syndrome Without Diarrhea

  • Hemolytic-Uremic Syndrome, Atypical, Type 1

  • Hemolytic Uremic Syndrome, Typical

Orofacial Cleft
  • Cleft, Orofacial

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus COLEC11 RGD RGD:1309678
Bos taurus COLEC11 VGNC VGNC:27578
Canis familiaris COLEC11 VGNC VGNC:39489
Macaca mulatta COLEC11 VGNC VGNC:71194
Felis catus COLEC11 VGNC VGNC:61072
Mus musculus COLEC11 MGD MGI:1918943
Others COLEC11 NCBI