• Gene id: 23136

Gene Summary

• Gene Symbol: EPB41L3   Gene   UCSC   Ensembl
• Aliases: 4.1B, DAL-1, DAL1
• Gene name: erythrocyte membrane protein band 4.1 like 3
• Alternate names: band 4.1-like protein 3, differentially expressed in adenocarcinoma of the lung protein 1,
• Gene location: 18p11.31 (11155996: 11145492)     Exons: 6     NC_000019.10
• OMIM: 605331

Protein Summary

• Protein general information: Q9Y2J2  
  • Name: Band 4.1 like protein 3 (4.1B) (Differentially expressed in adenocarcinoma of the lung protein 1) (DAL 1) [Cleaved into: Band 4.1 like protein 3, N terminally processed]
  • Length: 1087  
  • Mass: 120678
  • Tissue specificity: Expressed at high levels in brain, with lower levels in kidney, intestine, and testis. Detected in lung. {ECO
• Sequence:

  MTTESGSDSESKPDQEAEPQEAAGAQGRAGAPVPEPPKEEQQQALEQFAAAAAHSTPVRREVTDKEQEFAARAAK
  QLEYQQLEDDKLSQKSSSSKLSRSPLKIVKKPKSMQCKVILLDGSEYTCDVEKRSRGQVLFDKVCEHLNLLEKDY
  FGLTYRDAENQKNWLDPAKEIKKQVRSGAWHFSFNVKFYPPDPAQLSEDITRYYLCLQLRDDIVSGRLPCSFVTL
  ALLGSYTVQSELGDYDPDECGSDYISEFRFAPNHTKELEDKVIELHKSHRGMTPAEAEMHFLENAKKLSMYGVDL
  HHAKDSEGVEIMLGVCASGLLIYRDRLRINRFAWPKVLKISYKRNNFYIKIRPGEFEQFESTIGFKLPNHRAAKR
  LWKVCVEHHTFFRLLLPEAPPKKFLTLGSKFRYSGRTQAQTRRASALIDRPAPYFERSSSKRYTMSRSLDGEVGT
  GQYATTKGISQTNLITTVTPEKKAEEERDEEEDKRRKGEEVTPISAIRHEGKSPGLGTDSCPLSPPSTHCAPTSP
  TELRRRCKENDCKLPGYEPSRAEHLPGEPALDSDGPGRPYLGDQDVAFSYRQQTGKGTTLFSFSLQLPESFPSLL
  DDDGYLSFPNLSETNLLPQSLQHYLPIRSPSLVPCFLFIFFFLLSASFSVPYALTLSFPLALCLCYLEPKAASLS
  ASLDNDPSDSSEEETDSERTDTAADGETTATESDQEEDAELKAQELEKTQDDLMKHQTNISELKRTFLETSTDTA
  VTNEWEKRLSTSPVRLAARQEDAPMIEPLVPEETKQSSGEKLMDGSEIFSLLESARKPTEFIGGVTSTSQSWVQK
  METKTESSGIETEPTVHHLPLSTEKVVQETVLVEERRVVHASGDASYSAGDSGDAAAQPAFTGIKGKEGSALTEG
  AKEEGGEEVAKAVLEQEETAAASRERQEEQSAAIHISETLEQKPHFESSTVKTETISFGSVSPGGVKLEISTKEV
  PVVHTETKTITYESSQVDPGTDLEPGVLMSAQTITSETTSTTTTTHITKTVKGGISETRIEKRIVITGDADIDHD
  QALAQAIKEAKEQHPDMSVTKVVVHKETEITPEDGED

• Structural information:
  • Protein Domains: (110..39-)
    (/note="FERM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00084"-)
  • Interpro: IPR030691  IPR008379  IPR019749  IPR000798  IPR014847   IPR014352  IPR035963  IPR019748  IPR019747  IPR000299  IPR018979  IPR018980  IPR011993  IPR007477  IPR029071  
  • Prosite: PS00660 PS00661 PS50057
  • CDD: cd14473
  • PDB: 2HE7 3BIN 6IBE
  • PDBsum: 2HE7 3BIN 6IBE
  • DIP: 17035
  • STRING: ENSP00000343158
• Other Databases: GeneCards:  EPB41L3  Malacards:  EPB41L3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005911	cell-cell junction	IDA	cellular component
GO:0005856	cytoskeleton	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0031032	actomyosin structure organization	IBA	biological process
GO:0001558	regulation of cell growth	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0005198	structural molecule activity	IEA	molecular function
GO:0005911	cell-cell junction	IEA	cellular component
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0008092	cytoskeletal protein binding	IEA	molecular function
GO:0030866	cortical actin cytoskeleton organization	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0072659	protein localization to plasma membrane	IEA	biological process
GO:0071205	protein localization to juxtaparanode region of axon	IEA	biological process
GO:0030673	axolemma	IEA	cellular component
GO:0008360	regulation of cell shape	IEA	biological process
GO:0002175	protein localization to paranode region of axon	IEA	biological process
GO:0048812	neuron projection morphogenesis	IEA	biological process
GO:0044224	juxtaparanode region of axon	IEA	cellular component
GO:0043217	myelin maintenance	IEA	biological process
GO:0033270	paranode region of axon	IEA	cellular component
GO:0030913	paranodal junction assembly	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0033270	paranode region of axon	IEA	cellular component
GO:0106006	cytoskeletal protein-membrane anchor activity	TAS	molecular function
GO:0005200	structural constituent of cytoskeleton	TAS	molecular function
GO:0002175	protein localization to paranode region of axon	ISS	biological process
GO:0008360	regulation of cell shape	ISS	biological process
GO:0030673	axolemma	ISS	colocalizes with
GO:0030865	cortical cytoskeleton organization	TAS	biological process
GO:0071205	protein localization to juxtaparanode region of axon	ISS	biological process
GO:0072659	protein localization to plasma membrane	ISS	biological process
GO:0030913	paranodal junction assembly	ISS	biological process
GO:0033270	paranode region of axon	ISS	cellular component
GO:0043217	myelin maintenance	ISS	biological process
GO:0044224	juxtaparanode region of axon	ISS	cellular component
GO:0048812	neuron projection morphogenesis	ISS	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0005886	plasma membrane	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0008150	biological_process	ND	biological process

Diseases

Associated diseases	References
Meningioma	PMID:10888600
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray