• Gene id: 780

Gene Summary

• Gene Symbol: DDR1   Gene   UCSC   Ensembl
• Aliases: CAK, CD167, DDR, EDDR1, HGK2, MCK10, NEP, NTRK4, PTK3, PTK3A, RTK6, TRKE
• Gene name: discoidin domain receptor tyrosine kinase 1
• Alternate names: epithelial discoidin domain-containing receptor 1, CD167 antigen-like family member A, PTK3A protein tyrosine kinase 3A, cell adhesion kinase, mammary carcinoma kinase 10, neuroepithelial tyrosine kinase, neurotrophic tyrosine kinase, receptor, type 4, pr,
• Gene location: 6p21.33 (30880957: 30900155)     Exons: 25     NC_000006.12
• Gene summary(Entrez): Receptor tyrosine kinases play a key role in the communication of cells with their microenvironment. These kinases are involved in the regulation of cell growth, differentiation and metabolism. The protein encoded by this gene belongs to a subfamily of ty
• OMIM: 600408

SNPs

rs61758741

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.154959219T>C
NC_000001.10   g.154931695T>C
NM_138300.4   c.781A>G
NM_138300.3   c.781A>G
NP_612157.1   p.Lys261Glu|SEQ=[T/C]|GENE=PYGO2

rs61758740

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.154959577C>T
NC_000001.10   g.154932053C>T
NM_138300.4   c.423G>A
NM_138300.3   c.423G>A
NP_612157.1   p.Met141Ile|SEQ=[C/T]|GENE=PYGO2
LOC101928120   101928120

rs141722381

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.154959281T>A
NC_000001.10   g.154931757T>A
NM_138300.4   c.719A>T
NM_138300.3   c.719A>T
NP_612157.1   p.Asn240Ile|SEQ=[T/A]|GENE=PYGO2

Protein Summary

• Protein general information: Q08345  
  • Name: Epithelial discoidin domain containing receptor 1 (Epithelial discoidin domain receptor 1) (EC 2.7.10.1) (CD167 antigen like family member A) (Cell adhesion kinase) (Discoidin receptor tyrosine kinase) (HGK2) (Mammary carcinoma kinase 10) (MCK 10) (Protei
  • Length: 913  
  • Mass: 101,128
• Sequence:

  MGPEALSSLLLLLLVASGDADMKGHFDPAKCRYALGMQDRTIPDSDISASSSWSDSTAARHSRLESSDGDGAWCP
  AGSVFPKEEEYLQVDLQRLHLVALVGTQGRHAGGLGKEFSRSYRLRYSRDGRRWMGWKDRWGQEVISGNEDPEGV
  VLKDLGPPMVARLVRFYPRADRVMSVCLRVELYGCLWRDGLLSYTAPVGQTMYLSEAVYLNDSTYDGHTVGGLQY
  GGLGQLADGVVGLDDFRKSQELRVWPGYDYVGWSNHSFSSGYVEMEFEFDRLRAFQAMQVHCNNMHTLGARLPGG
  VECRFRRGPAMAWEGEPMRHNLGGNLGDPRARAVSVPLGGRVARFLQCRFLFAGPWLLFSEISFISDVVNNSSPA
  LGGTFPPAPWWPPGPPPTNFSSLELEPRGQQPVAKAEGSPTAILIGCLVAIILLLLLIIALMLWRLHWRRLLSKA
  ERRVLEEELTVHLSVPGDTILINNRPGPREPPPYQEPRPRGNPPHSAPCVPNGSALLLSNPAYRLLLATYARPPR
  GPGPPTPAWAKPTNTQAYSGDYMEPEKPGAPLLPPPPQNSVPHYAEADIVTLQGVTGGNTYAVPALPPGAVGDGP
  PRVDFPRSRLRFKEKLGEGQFGEVHLCEVDSPQDLVSLDFPLNVRKGHPLLVAVKILRPDATKNARNDFLKEVKI
  MSRLKDPNIIRLLGVCVQDDPLCMITDYMENGDLNQFLSAHQLEDKAAEGAPGDGQAAQGPTISYPMLLHVAAQI
  ASGMRYLATLNFVHRDLATRNCLVGENFTIKIADFGMSRNLYAGDYYRVQGRAVLPIRWMAWECILMGKFTTASD
  VWAFGVTLWEVLMLCRAQPFGQLTDEQVIENAGEFFRDQGRQVYLSRPPACPQGLYELMLRCWSRESEQRPPFSQ
  LHRFLAEDALNTV

• Structural information:
  • Protein Domains: F5/8 (31-185)
    Protein (610-905)
  • Interpro: IPR029553  IPR000421  IPR008979  IPR011009  IPR000719   IPR001245  IPR008266  IPR020635  IPR002011  
  • Prosite: PS01285 PS01286 PS50022 PS50011 PS00109 PS00239
  • PDB: 3ZOS 4AG4 4BKJ 4CKR 5BVK 5BVN 5BVO 5BVW 5FDP 5FDX
  • PDBsum: 3ZOS 4AG4 4BKJ 4CKR 5BVK 5BVN 5BVO 5BVW 5FDP 5FDX
  • DIP: 39698
  • STRING: ENSP00000365759
• Other Databases: GeneCards:  DDR1  Malacards:  DDR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001558	regulation of cell growth	IEA	biological process
GO:0001952	regulation of cell-matrix adhesion	IEA	biological process
GO:0004714	transmembrane receptor protein tyrosine kinase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005518	collagen binding	IMP	molecular function
GO:0005518	collagen binding	IDA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	TAS	biological process
GO:0007566	embryo implantation	IEA	biological process
GO:0007595	lactation	IEA	biological process
GO:0008285	negative regulation of cell proliferation	IEA	biological process
GO:0010715	regulation of extracellular matrix disassembly	IMP	biological process
GO:0014909	smooth muscle cell migration	IMP	biological process
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0031100	animal organ regeneration	IEA	biological process
GO:0038062	protein tyrosine kinase collagen receptor activity	IDA	molecular function
GO:0038062	protein tyrosine kinase collagen receptor activity	IDA	molecular function
GO:0038063	collagen-activated tyrosine kinase receptor signaling pathway	IMP	biological process
GO:0038063	collagen-activated tyrosine kinase receptor signaling pathway	IDA	biological process
GO:0038063	collagen-activated tyrosine kinase receptor signaling pathway	IDA	biological process
GO:0038083	peptidyl-tyrosine autophosphorylation	IDA	biological process
GO:0043235	receptor complex	IDA	cellular component
GO:0043583	ear development	IEA	biological process
GO:0043588	skin development	IEA	biological process
GO:0044319	wound healing, spreading of cells	IMP	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0060444	branching involved in mammary gland duct morphogenesis	IEA	biological process
GO:0060749	mammary gland alveolus development	IEA	biological process
GO:0061302	smooth muscle cell-matrix adhesion	IMP	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0001558	regulation of cell growth	IEA	biological process
GO:0001952	regulation of cell-matrix adhesion	IEA	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IEA	molecular function
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IEA	molecular function
GO:0004714	transmembrane receptor protein tyrosine kinase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005518	collagen binding	IEA	molecular function
GO:0005518	collagen binding	IMP	molecular function
GO:0005518	collagen binding	IDA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0007155	cell adhesion	TAS	biological process
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IEA	biological process
GO:0007565	female pregnancy	IEA	biological process
GO:0007566	embryo implantation	IEA	biological process
GO:0007595	lactation	IEA	biological process
GO:0008285	negative regulation of cell proliferation	IEA	biological process
GO:0010715	regulation of extracellular matrix disassembly	IEA	biological process
GO:0010715	regulation of extracellular matrix disassembly	IMP	biological process
GO:0014909	smooth muscle cell migration	IEA	biological process
GO:0014909	smooth muscle cell migration	IMP	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016301	kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0031100	animal organ regeneration	IEA	biological process
GO:0038062	protein tyrosine kinase collagen receptor activity	IEA	molecular function
GO:0038062	protein tyrosine kinase collagen receptor activity	IDA	molecular function
GO:0038062	protein tyrosine kinase collagen receptor activity	IDA	molecular function
GO:0038063	collagen-activated tyrosine kinase receptor signaling pathway	IEA	biological process
GO:0038063	collagen-activated tyrosine kinase receptor signaling pathway	IMP	biological process
GO:0038063	collagen-activated tyrosine kinase receptor signaling pathway	IDA	biological process
GO:0038063	collagen-activated tyrosine kinase receptor signaling pathway	IDA	biological process
GO:0038083	peptidyl-tyrosine autophosphorylation	IDA	biological process
GO:0043235	receptor complex	IDA	cellular component
GO:0043583	ear development	IEA	biological process
GO:0043588	skin development	IEA	biological process
GO:0044319	wound healing, spreading of cells	IEA	biological process
GO:0044319	wound healing, spreading of cells	IMP	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0060444	branching involved in mammary gland duct morphogenesis	IEA	biological process
GO:0060749	mammary gland alveolus development	IEA	biological process
GO:0061302	smooth muscle cell-matrix adhesion	IEA	biological process
GO:0061302	smooth muscle cell-matrix adhesion	IMP	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0004714	transmembrane receptor protein tyrosine kinase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005518	collagen binding	IMP	molecular function
GO:0005518	collagen binding	IDA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007155	cell adhesion	TAS	biological process
GO:0010715	regulation of extracellular matrix disassembly	IMP	biological process
GO:0014909	smooth muscle cell migration	IMP	biological process
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0038062	protein tyrosine kinase collagen receptor activity	IDA	molecular function
GO:0038062	protein tyrosine kinase collagen receptor activity	IDA	molecular function
GO:0038063	collagen-activated tyrosine kinase receptor signaling pathway	IMP	biological process
GO:0038063	collagen-activated tyrosine kinase receptor signaling pathway	IDA	biological process
GO:0038063	collagen-activated tyrosine kinase receptor signaling pathway	IDA	biological process
GO:0038083	peptidyl-tyrosine autophosphorylation	IDA	biological process
GO:0043235	receptor complex	IDA	cellular component
GO:0044319	wound healing, spreading of cells	IMP	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0061302	smooth muscle cell-matrix adhesion	IMP	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component

Diseases

Associated diseases	References
Cancer (leukemia)	GAD: 18270328
Cancer	GAD: 19837266
Systemic lupus erythematosus (SLE)	GAD: 19851445
Behcet's disease	GAD: 20622878
Juvenile oligoarthritis	GAD: 15213330
Schizophrenia	GAD: 17440435
Abortion	GAD: 20587610
Male factor infertility	MIK: 25064398
Non obstructive azoospermia	MIK: 25064398
Vitiligo	GAD: 20182441
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Nonobstructive azoospermia (NOA)	MIK: 25064398
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25064398	Nonobstructive azoospermia (NOA)			21 (16 men with NOA, 5 with normal spermatogenesis)	Male infertility	MRI1 DCAF12L1 TMEM95 CECR2 DDR1 and NPHS2
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881