ENSMUSG00000021613


Mus musculus

Features
Gene ID: ENSMUSG00000021613
  
Biological name :Hapln1
  
Synonyms : Hapln1 / Hyaluronan and proteoglycan link protein 1 / Q9QUP5
  
Possible biological names infered from orthology : P10915
  
Species: Mus musculus
  
Chr. number: 13
Strand: 1
Band: C3
Gene start: 89539796
Gene end: 89611652
  
Corresponding Affymetrix probe sets: 10406519 (MoGene1.0st)   1421633_a_at (Mouse Genome 430 2.0 Array)   1426294_at (Mouse Genome 430 2.0 Array)   1426295_at (Mouse Genome 430 2.0 Array)   1438020_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000022108
NCBI entrez gene - 12950     See in Manteia.
MGI - MGI:1337006
RefSeq - NM_013500
RefSeq - XM_006517075
RefSeq Peptide - NP_038528
swissprot - Q9QUP5
Ensembl - ENSMUSG00000021613
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hapln1bENSDARG00000068516Danio rerio
 HAPLN1ENSGALG00000015627Gallus gallus
 HAPLN1ENSG00000145681Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Hapln3 / Q80WM5 / Hyaluronan and proteoglycan link protein 3 / Q96S86*ENSMUSG0000003060652
Hapln4 / Q80WM4 / Hyaluronan and proteoglycan link protein 4 / Q86UW8*ENSMUSG0000000759448
Hapln2 / Q9ESM3 / hyaluronan and proteoglycan link protein 2 / Q9GZV7*ENSMUSG0000000489441
Bcan / Q61361 / Brevican core protein / Q96GW7* / brevican*ENSMUSG0000000489239
Ncan / neurocan / O14594*ENSMUSG0000000234137
Acan / Q61282 / Aggrecan core protein / aggrecan*ENSMUSG0000003060735
Vcan / versican / P13611*ENSMUSG0000002161435
Stab2 / Q8R4U0 / Stabilin-2 Short form stabilin-2 / Q8WWQ8* / stabilin 2*ENSMUSG0000003545919
Stab1 / stabilin 1 / Q9NY15*ENSMUSG0000004228618
O08859 / Tnfaip6 / tumor necrosis factor alpha induced protein 6 / P98066* / TNF alpha induced protein 6*ENSMUSG0000005347514


Protein motifs (from Interpro)
Interpro ID Name
 IPR000538  Link domain
 IPR003599  Immunoglobulin subtype
 IPR007110  Immunoglobulin-like domain
 IPR013106  Immunoglobulin V-set domain
 IPR013783  Immunoglobulin-like fold
 IPR016186  C-type lectin-like/link domain superfamily
 IPR016187  C-type lectin fold
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001501 skeletal system development IBA
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007417 central nervous system development IBA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0031012 extracellular matrix IEA
 molecular_functionGO:0005201 extracellular matrix structural constituent IBA
 molecular_functionGO:0005540 hyaluronic acid binding IBA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000131 abnormal long bone epiphysis morphology "the head of a developing long bone that is separated from the shaft by the epiphyseal plate" [J:61509]
Show

Allelic Composition: Igf1rtm1Arge/Igf1rtm2Arge,Tg(Camk2a-cre)2Szi/0
Genetic Background: involves: 129S/SvEv * C57BL/6J * CBA

 MP:0000133 abnormal long bone metaphysis morphology "malformed conical section of bone between the epiphysis and diaphysis of the long bones" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:61295]
Show

Allelic Composition: Igf1rtm1Arge/Igf1rtm2Arge,Tg(Camk2a-cre)2Szi/0
Genetic Background: involves: 129S/SvEv * C57BL/6J * CBA

 MP:0000162 lordosis "anteriorly convex curvature of the spine, "saddle back" " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:62022]
Show

Allelic Composition: Igf1rtm1Arge/Igf1rtm2Arge,Tg(Camk2a-cre)2Szi/0
Genetic Background: involves: 129S/SvEv * C57BL/6J * CBA

 MP:0000164 abnormal cartilage development "anomalous formation of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the throax, and tubular structures, but which also comprises most of the skeleton in early fetal life " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Igf1rtm1Arge/Igf1rtm2Arge,Tg(Camk2a-cre)2Szi/0
Genetic Background: involves: 129S/SvEv * C57BL/6J * CBA

 MP:0000165 abnormal hypertrophic chondrocyte zone "anomaly of the cartilage cell matrix layer " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58795]
Show

Allelic Composition: Igf1rtm1Arge/Igf1rtm2Arge,Tg(Camk2a-cre)2Szi/0
Genetic Background: involves: 129S/SvEv * C57BL/6J * CBA

 MP:0000445 short snout "reduced length of the anterior facial part of the muzzle" [J:53370]
Show

Allelic Composition: Igf1rtm1Arge/Igf1rtm2Arge,Tg(Camk2a-cre)2Szi/0
Genetic Background: involves: 129S/SvEv * C57BL/6J * CBA

 MP:0001523 impaired righting response "reduced ability or greater amount of time needed to recover from supine position" [J:25565]
Show

Allelic Composition: Golga3tm1b(EUCOMM)Hmgu/Golga3tm1b(EUCOMM)Hmgu
Genetic Background: C57BL/6N-Golga3tm1b(EUCOMM)Hmgu/H

 MP:0002115 abnormal skeleton extremities morphology "abnormal development of limb, foot or tail bones resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Igf1rtm1Arge/Igf1rtm2Arge,Tg(Camk2a-cre)2Szi/0
Genetic Background: involves: 129S/SvEv * C57BL/6J * CBA

 MP:0002427 dwarfism "abnormally undersized with disproportionate body parts" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Igf1rtm1Arge/Igf1rtm2Arge,Tg(Camk2a-cre)2Szi/0
Genetic Background: involves: 129S/SvEv * C57BL/6J * CBA

 MP:0004340 short scapula "reduced length of either or both of the large, flat bones of the back part of the shoulder" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Igf1rtm1Arge/Igf1rtm2Arge,Tg(Camk2a-cre)2Szi/0
Genetic Background: involves: 129S/SvEv * C57BL/6J * CBA

 MP:0004592 small mandible "reduced size of the lower bony framework of the mouth where the inferior teeth are held" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Igf1rtm1Arge/Igf1rtm2Arge,Tg(Camk2a-cre)2Szi/0
Genetic Background: involves: 129S/SvEv * C57BL/6J * CBA

 MP:0004686 decreased length of long bones "reduced end-to-end length of the several elongated bones of the extremities" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Igf1rtm1Arge/Igf1rtm2Arge,Tg(Camk2a-cre)2Szi/0
Genetic Background: involves: 129S/SvEv * C57BL/6J * CBA

 MP:0005508 abnormal skeleton morphology "malformation of the bony framework of the body in vertebrates" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Igf1rtm1Arge/Igf1rtm2Arge,Tg(Camk2a-cre)2Szi/0
Genetic Background: involves: 129S/SvEv * C57BL/6J * CBA

 MP:0005587 abnormal Meckel s cartilage morphology "structural anomaly of this cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible; gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17694]
Show

Allelic Composition: Igf1rtm1Arge/Igf1rtm2Arge,Tg(Camk2a-cre)2Szi/0
Genetic Background: involves: 129S/SvEv * C57BL/6J * CBA

 MP:0005642 decreased mean corpuscular hemoglobin concentration "less than the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:8936]
Show

Allelic Composition: Golga3tm1b(EUCOMM)Hmgu/Golga3tm1b(EUCOMM)Hmgu
Genetic Background: C57BL/6N-Golga3tm1b(EUCOMM)Hmgu/H

 MP:0010029 abnormal basicranium morphology "any structural anomaly of the sloping floor of the cranial cavity that is comprised of parts of the ethmoidal, occipital and sphenoid bones" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Igf1rtm1Arge/Igf1rtm2Arge,Tg(Camk2a-cre)2Szi/0
Genetic Background: involves: 129S/SvEv * C57BL/6J * CBA

 MP:0011088 partial neonatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Igf1rtm1Arge/Igf1rtm2Arge,Tg(Camk2a-cre)2Szi/0
Genetic Background: involves: 129S/SvEv * C57BL/6J * CBA

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Golga3tm1b(EUCOMM)Hmgu/Golga3tm1b(EUCOMM)Hmgu
Genetic Background: C57BL/6N-Golga3tm1b(EUCOMM)Hmgu/H

 MP:0011175 platyspondylia "flatness of the bodies of the vertebrae; one or many vertebrae may be affected" [ISBN:0-683-40008-8]
Show

Allelic Composition: Igf1rtm1Arge/Igf1rtm2Arge,Tg(Camk2a-cre)2Szi/0
Genetic Background: involves: 129S/SvEv * C57BL/6J * CBA

 MP:0012175 flat face "the appearance of a flattened surface outline or contour of a normally rounded face of an organism" [MGI:anna]
Show

Allelic Composition: Igf1rtm1Arge/Igf1rtm2Arge,Tg(Camk2a-cre)2Szi/0
Genetic Background: involves: 129S/SvEv * C57BL/6J * CBA

 MP:0030124 middle ear ossicle hypoplasia "underdevelopment or reduced size of the three bones of the middle ear, usually due to reduced cell number" [MGI:anna]
Show

Allelic Composition: Igf1rtm1Arge/Igf1rtm2Arge,Tg(Camk2a-cre)2Szi/0
Genetic Background: involves: 129S/SvEv * C57BL/6J * CBA

 MP:0030420 short basicranium "decreased length of the anterior and/or posterior portions of the skull base" [MGI:anna]
Show

Allelic Composition: Igf1rtm1Arge/Igf1rtm2Arge,Tg(Camk2a-cre)2Szi/0
Genetic Background: involves: 129S/SvEv * C57BL/6J * CBA

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
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