• Gene id: 55604

Gene Summary

• Gene Symbol: CARMIL1   Gene   UCSC   Ensembl
• Aliases: CARMIL, CARMIL1a, LRRC16, LRRC16A, dJ501N12.1, dJ501N12.5
• Gene name: capping protein regulator and myosin 1 linker 1
• Alternate names: F-actin-uncapping protein LRRC16A, CARMIL homolog, capping protein regulator and myosin 1 linker protein 1, capping protein, Arp2/3 and myosin-I linker homolog 1, capping protein, Arp2/3 and myosin-I linker protein 1, capping protein, Arp2/3, and Myosin-I Link,
• Gene location: 6p22.2 (25279373: 25620529)     Exons: 41     NC_000006.12
• OMIM: 609593

Protein Summary

• Protein general information: Q5VZK9  
  • Name: F actin uncapping protein LRRC16A (CARMIL homolog) (Capping protein regulator and myosin 1 linker protein 1) (Capping protein, Arp2/3 and myosin I linker homolog 1) (Capping protein, Arp2/3 and myosin I linker protein 1) (Leucine rich repeat containing pr
  • Length: 1371  
  • Mass: 151557
  • Tissue specificity: Expressed in lung, placenta, small intestine, liver, thymus, colon, skeletal muscle, heart and brain. Higher expression in kidney. {ECO
• Sequence:

  MTEESSDVPRELIESIKDVIGRKIKISVKKKVKLEVKGDKVENKVLVLTSCRAFLVTARIPTKLELTFSYLEIHG
  VVCSKSAQMIVETEKCSISMKMASPEDVSEVLAHIGTCLRKIFPGLSPVRIMKKVSMEPSERLASLQALWDSQTV
  AEQGPCGGFSQMYACVCDWLGFSYREEVQWDVDTIYLTQDTRELNLQDFSHLDHRDLIPIIAALEYNQWFTKLSS
  KDLKLSTDVCEQILRVVSRSNRLEELVLENAGLRTDFAQKLASALAHNPNSGLHTINLAGNPLEDRGVSSLSIQF
  AKLPKGLKHLNLSKTSLSPKGVNSLSQSLSANPLTASTLVHLDLSGNVLRGDDLSHMYNFLAQPNAIVHLDLSNT
  ECSLDMVCGALLRGCLQYLAVLNLSRTVFSHRKGKEVPPSFKQFFSSSLALMHINLSGTKLSPEPLKALLLGLAC
  NHNLKGVSLDLSNCELRSGGAQVLEGCIAEIHNITSLDISDNGLESDLSTLIVWLSKNRSIQHLALGKNFNNMKS
  KNLTPVLDNLVQMIQDEESPLQSLSLADSKLKTEVTIIINALGSNTSLTKVDISGNGMGDMGAKMLAKALQINTK
  LRTVIWDKNNITAQGFQDIAVAMEKNYTLRFMPIPMYDASQALKTNPEKTEDALQKIENYLLRNHETRKYLQEQA
  YRLQQGIVTSTTQQMIDRICVKVQDHLNSLRNCGGDAIQEDLKSAERLMRDAKNSKTLLPNLYHVGGASWAGASG
  LLSSPIQETLESMAGEVTRVVDEQLKALLESMVDAAENLCPNVMKKAHIRQDLIHASTEKISIPRTFVKNVLLEQ
  SGIDILNKISEVKLTVASFLSDRIVDEILDALSHCHHKLADHFSRRGKTLPQQESLEIELAEEKPVKRSIITVEE
  LTEIERLEDLDTCMMTPKSKRKSIHSRMLRPVSRAFEMEFDLDKALEEVPIHIEDPPFPSLRQEKRSSGFISELP
  SEEGKKLEHFTKLRPKRNKKQQPTQAAVCAANIVSQDGEQNGLMGRVDEGVDEFFTKKVTKMDSKKWSTRGSESH
  ELNEGGDEKKKRDSRKSSGFLNLIKSRSKSERPPTILMTEEPSSPKGAVRSPPVDCPRKDTKAAEHNGNSERIEE
  IKTPDSFEESQGEEIGKVERSDSKSSPQAGRRYGVQVMGSGLLAEMKAKQEKRAACAQKKLGNDAVSQDSSSPAL
  SGVERSDGGGAVPKLHPGLPENRFGLGTPEKNTKAEPKAEAGSRSRSSSSTPTSPKPLLQSPKPSLAARPVIPQK
  PRTASRPDDIPDSPSSPKVALLPPVLKKVPSDKERDGQSSPQPSPRTFSQEVSRRSWGQQAQEYQEQKQRSSSKD
  GHQGSKSNDSGEEAEKEFIFV

• Structural information:
  • Interpro: IPR029764  IPR031943  IPR041245  IPR001611  IPR032675   IPR011993  
  • PDB: 3LK2 3LK3
  • PDBsum: 3LK2 3LK3
  • DIP: 56920
  • STRING: ENSP00000331983
• Other Databases: GeneCards:  CARMIL1  Malacards:  CARMIL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0044354	macropinosome	IDA	cellular component
GO:0030335	positive regulation of cell migration	IDA	biological process
GO:0031252	cell leading edge	IDA	cellular component
GO:0051639	actin filament network formation	IDA	biological process
GO:0044351	macropinocytosis	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030335	positive regulation of cell migration	IEA	biological process
GO:0051638	barbed-end actin filament uncapping	IEA	biological process
GO:0030027	lamellipodium	IEA	cellular component
GO:1902745	positive regulation of lamellipodium organization	IEA	biological process
GO:2000813	negative regulation of barbed-end actin filament capping	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:1900026	positive regulation of substrate adhesion-dependent cell spreading	IEA	biological process
GO:0051638	barbed-end actin filament uncapping	IEA	biological process
GO:0051496	positive regulation of stress fiber assembly	IEA	biological process
GO:0030335	positive regulation of cell migration	IEA	biological process
GO:2000813	negative regulation of barbed-end actin filament capping	IEA	biological process
GO:1902745	positive regulation of lamellipodium organization	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0031941	filamentous actin	IEA	cellular component
GO:0030838	positive regulation of actin filament polymerization	IEA	biological process
GO:0030027	lamellipodium	IEA	cellular component
GO:0030027	lamellipodium	IDA	cellular component
GO:0007015	actin filament organization	NAS	biological process
GO:0016477	cell migration	IMP	biological process
GO:0030032	lamellipodium assembly	IMP	biological process
GO:0031529	ruffle organization	IMP	biological process
GO:0046415	urate metabolic process	IMP	biological process
GO:0030027	lamellipodium	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:1902745	positive regulation of lamellipodium organization	IDA	biological process
GO:0044877	protein-containing complex binding	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0046415	urate metabolic process	IMP	biological process
GO:0031941	filamentous actin	ISS	cellular component
GO:0030838	positive regulation of actin filament polymerization	ISS	biological process
GO:2000813	negative regulation of barbed-end actin filament capping	ISS	biological process
GO:1900026	positive regulation of substrate adhesion-dependent cell spreading	IMP	biological process
GO:0051638	barbed-end actin filament uncapping	ISS	biological process
GO:0051496	positive regulation of stress fiber assembly	IMP	biological process
GO:0030335	positive regulation of cell migration	IMP	biological process

Diseases

Associated diseases	References
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)