• Gene id: 130399

Gene Summary

• Gene Symbol: ACVR1C   Gene   UCSC   Ensembl
• Aliases: ACVRLK7, ALK7
• Gene name: activin A receptor type 1C
• Alternate names: activin receptor type-1C, ACTR-IC, ALK-7, activin A receptor, type IC, activin receptor type IC, activin receptor-like kinase 7,
• Gene location: 2q24.1 (157628863: 157526766)     Exons: 5     NC_000002.12
• Gene summary(Entrez): ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in
• OMIM: 608981

Protein Summary

• Protein general information: Q8NER5  
  • Name: Activin receptor type 1C (EC 2.7.11.30) (Activin receptor type IC) (ACTR IC) (Activin receptor like kinase 7) (ALK 7)
  • Length: 493  
  • Mass: 54871
  • Tissue specificity: Present in pancreas, heart, colon, small intestine, ovary and the hippocampus, medulla oblongata and putamen of the brain. Isoform 1, isoform 2, isoform 3 and isoform 4 are all expressed in the placenta throughout pregnancy. {ECO
• Sequence:

  MTRALCSALRQALLLLAAAAELSPGLKCVCLLCDSSNFTCQTEGACWASVMLTNGKEQVIKSCVSLPELNAQVFC
  HSSNNVTKTECCFTDFCNNITLHLPTASPNAPKLGPMELAIIITVPVCLLSIAAMLTVWACQGRQCSYRKKKRPN
  VEEPLSECNLVNAGKTLKDLIYDVTASGSGSGLPLLVQRTIARTIVLQEIVGKGRFGEVWHGRWCGEDVAVKIFS
  SRDERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSEYHEQGSLYDYLNRNIVTVAGMIKLALSIA
  SGLAHLHMEIVGTQGKPAIAHRDIKSKNILVKKCETCAIADLGLAVKHDSILNTIDIPQNPKVGTKRYMAPEMLD
  DTMNVNIFESFKRADIYSVGLVYWEIARRCSVGGIVEEYQLPYYDMVPSDPSIEEMRKVVCDQKFRPSIPNQWQS
  CEALRVMGRIMRECWYANGAARLTALRIKKTISQLCVKEDCKA

• Structural information:
  • Protein Domains: (165..19-)
    (/note="GS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00585-)
    (195..48-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR003605  IPR011009  IPR000719  IPR017441  IPR001245   IPR008271  IPR000333  
  • Prosite: PS51256 PS00107 PS50011 PS00108
  • STRING: ENSP00000243349
• Other Databases: GeneCards:  ACVR1C  Malacards:  ACVR1C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0006468	protein phosphorylation	IBA	biological process
GO:0007399	nervous system development	IBA	biological process
GO:0016361	activin receptor activity, type I	IBA	molecular function
GO:0032924	activin receptor signaling pathway	IBA	biological process
GO:0043235	receptor complex	IBA	cellular component
GO:0048179	activin receptor complex	IBA	cellular component
GO:0071363	cellular response to growth factor stimulus	IBA	biological process
GO:0007178	transmembrane receptor protein serine/threonine kinase signaling pathway	IEA	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0016310	phosphorylation	IEA	biological process
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	IEA	molecular function
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0001834	trophectodermal cell proliferation	IDA	biological process
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0009749	response to glucose	IEA	biological process
GO:0032868	response to insulin	IEA	biological process
GO:0046676	negative regulation of insulin secretion	IEA	biological process
GO:0002021	response to dietary excess	IEA	biological process
GO:0019915	lipid storage	IEA	biological process
GO:0038100	nodal binding	IMP	molecular function
GO:1901164	negative regulation of trophoblast cell migration	IDA	biological process
GO:0038092	nodal signaling pathway	IMP	biological process
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IMP	biological process
GO:1901383	negative regulation of chorionic trophoblast cell proliferation	IMP	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006468	protein phosphorylation	IC	biological process
GO:0016361	activin receptor activity, type I	IDA	molecular function
GO:0046872	metal ion binding	IC	molecular function
GO:0030262	apoptotic nuclear changes	IDA	biological process
GO:0048179	activin receptor complex	IDA	cellular component
GO:0030154	cell differentiation	IDA	biological process
GO:0019838	growth factor binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction
hsa04550	Signaling pathways regulating pluripotency of stem cells
hsa04350	TGF-beta signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881