• Gene id: 57535

Gene Summary

• Gene Symbol: ELAPOR1   Gene   UCSC   Ensembl
• Aliases: EIG121, KIAA1324
• Gene name: endosome-lysosome associated apoptosis and autophagy regulator 1
• Alternate names: UPF0577 protein KIAA1324, estrogen-induced gene 121 protein, maba1,
• Gene location: 1p13.3 (109114105: 109206780)     Exons: 14     NC_000001.11
• Gene summary(Entrez): Expression of this gene is induced by estrogen and the encoded protein has been characterized as a transmembrane protein. The encoded protein has been found in to correlate with survival in certain carcinomas (PMID: 21102415) and may be important for cell
• OMIM: 611298

Protein Summary

• Protein general information: Q6UXG2  
  • Name: UPF0577 protein KIAA1324 (Estrogen induced gene 121 protein)
  • Length: 1013  
  • Mass: 111382
  • Tissue specificity: Expressed in normal endometrium but overexpressed in endometroid tumors. {ECO
• Sequence:

  MAEPGHSHHLSARVRGRTERRIPRLWRLLLWAGTAFQVTQGTGPELHACKESEYHYEYTACDSTGSRWRVAVPHT
  PGLCTSLPDPIKGTECSFSCNAGEFLDMKDQSCKPCAEGRYSLGTGIRFDEWDELPHGFASLSANMELDDSAAES
  TGNCTSSKWVPRGDYIASNTDECTATLMYAVNLKQSGTVNFEYYYPDSSIIFEFFVQNDQCQPNADDSRWMKTTE
  KGWEFHSVELNRGNNVLYWRTTAFSVWTKVPKPVLVRNIAITGVAYTSECFPCKPGTYADKQGSSFCKLCPANSY
  SNKGETSCHQCDPDKYSEKGSSSCNVRPACTDKDYFYTHTACDANGETQLMYKWAKPKICSEDLEGAVKLPASGV
  KTHCPPCNPGFFKTNNSTCQPCPYGSYSNGSDCTRCPAGTEPAVGFEYKWWNTLPTNMETTVLSGINFEYKGMTG
  WEVAGDHIYTAAGASDNDFMILTLVVPGFRPPQSVMADTENKEVARITFVFETLCSVNCELYFMVGVNSRTNTPV
  ETWKGSKGKQSYTYIIEENTTTSFTWAFQRTTFHEASRKYTNDVAKIYSINVTNVMNGVASYCRPCALEASDVGS
  SCTSCPAGYYIDRDSGTCHSCPTNTILKAHQPYGVQACVPCGPGTKNNKIHSLCYNDCTFSRNTPTRTFNYNFSA
  LANTVTLAGGPSFTSKGLKYFHHFTLSLCGNQGRKMSVCTDNVTDLRIPEGESGFSKSITAYVCQAVIIPPEVTG
  YKAGVSSQPVSLADRLIGVTTDMTLDGITSPAELFHLESLGIPDVIFFYRSNDVTQSCSSGRSTTIRVRCSPQKT
  VPGSLLLPGTCSDGTCDGCNFHFLWESAAACPLCSVADYHAIVSSCVAGIQKTTYVWREPKLCSGGISLPEQRVT
  ICKTIDFWLKVGISAGTCTAILLTVLTCYFWKKNQKLEYKYSKLVMNATLKDCDLPAADSCAIMEGEDVEDDLIF
  TSKKSLFGKIKSFTSKRTPDGFDSVPLKTSSGGLDMDL

• Structural information:
  • Interpro: IPR039181  IPR009030  IPR011641  
  • STRING: ENSP00000358955
• Other Databases: GeneCards:  ELAPOR1  Malacards:  ELAPOR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006914	autophagy	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000045	autophagosome assembly	IMP	biological process
GO:0005764	lysosome	IDA	colocalizes with
GO:0005802	trans-Golgi network	IDA	colocalizes with
GO:0005770	late endosome	IDA	colocalizes with
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:2000786	positive regulation of autophagosome assembly	IMP	biological process
GO:0009267	cellular response to starvation	IMP	biological process
GO:0044090	positive regulation of vacuole organization	IMP	biological process
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Non obstructive azoospermia	MIK: 24012201
Non obstructive azoospermia, Sertoli cell only syndrome	MIK: 23869807
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881