Endometriosis Knowledgebase

Search Result

Gene id

8842

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

PROM1 Gene UCSC Ensembl

Aliases

AC133, CD133, CORD12, MCDR2, MSTP061, PROML1, RP41, STGD4

Gene name

prominin 1

Alternate names

prominin-1, antigen AC133, hProminin, hematopoietic stem cell antigen, prominin-like protein 1,

Gene location

4p15.32 (16084099: 15968225) Exons: 36 NC_000004.12

Gene summary(Entrez)

This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

OMIM

604365

Protein Summary

Protein general information

O43490

Name: Prominin 1 (Antigen AC133) (Prominin like protein 1) (CD antigen CD133)

Length: 865 Mass: 97,202

Tissue specificity: Isoform 1 is selectively expressed on CD34 hematopoietic stem and progenitor cells in adult and fetal bone marrow, fetal liver, cord blood and adult peripheral blood. Isoform 1 is not detected on other blood cells. Isoform 1 is also ex

Sequence

MALVLGSLLLLGLCGNSFSGGQPSSTDAPKAWNYELPATNYETQDSHKAGPIGILFELVHIFLYVVQPRDFPEDT
LRKFLQKAYESKIDYDKPETVILGLKIVYYEAGIILCCVLGLLFIILMPLVGYFFCMCRCCNKCGGEMHQRQKEN
GPFLRKCFAISLLVICIIISIGIFYGFVANHQVRTRIKRSRKLADSNFKDLRTLLNETPEQIKYILAQYNTTKDK
AFTDLNSINSVLGGGILDRLRPNIIPVLDEIKSMATAIKETKEALENMNSTLKSLHQQSTQLSSSLTSVKTSLRS
SLNDPLCLVHPSSETCNSIRLSLSQLNSNPELRQLPPVDAELDNVNNVLRTDLDGLVQQGYQSLNDIPDRVQRQT
TTVVAGIKRVLNSIGSDIDNVTQRLPIQDILSAFSVYVNNTESYIHRNLPTLEEYDSYWWLGGLVICSLLTLIVI
FYYLGLLCGVCGYDRHATPTTRGCVSNTGGVFLMVGVGLSFLFCWILMIIVVLTFVFGANVEKLICEPYTSKELF
RVLDTPYLLNEDWEYYLSGKLFNKSKMKLTFEQVYSDCKKNRGTYGTLHLQNSFNISEHLNINEHTGSISSELES
LKVNLNIFLLGAAGRKNLQDFAACGIDRMNYDSYLAQTGKSPAGVNLLSFAYDLEAKANSLPPGNLRNSLKRDAQ
TIKTIHQQRVLPIEQSLSTLYQSVKILQRTGNGLLERVTRILASLDFAQNFITNNTSSVIIEETKKYGRTIIGYF
EHYLQWIEFSISEKVASCKPVATALDTAVDVFLCSYIIDPLNLFWFGIGKATVFLLPALIFAVKLAKYYRRMDSE
DVYDDVETIPMKNMENGNNGYHKDHVYGIHNPVMTSPSQH

Structural information

Interpro:	IPR008795
Pfam:	PF05478
MINT:	4724549
STRING:	ENSP00000415481;

Other Databases

GeneCards: PROM1; Malacards: PROM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001750	photoreceptor outer segme nt	ISS	cellular_component
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005615	extracellular space	IDA	cellular_component
GO:0005783	endoplasmic reticulum	IDA	cellular_component
GO:0005793	endoplasmic reticulum-Gol gi intermediate compartme nt	IDA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0010842	retina layer formation	ISS	biological_process
GO:0016324	apical plasma membrane	IEA	cellular_component
GO:0031528	microvillus membrane	IEA	cellular_component
GO:0031982	vesicle	IDA	cellular_component
GO:0042622	photoreceptor outer segme nt membrane	IDA	cellular_component
GO:0042805	actinin binding	IDA	molecular_function
GO:0043231	intracellular membrane-bo unded organelle	IDA	cellular_component
GO:0045296	cadherin binding	IPI	molecular_function
GO:0045494	photoreceptor cell mainte nance	IMP	biological_process
GO:0060042	retina morphogenesis in c amera-type eye	IMP	biological_process
GO:0060219	camera-type eye photorece ptor cell differentiation	ISS	biological_process
GO:0060219	camera-type eye photorece ptor cell differentiation	IMP	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0072112	glomerular visceral epith elial cell differentiatio n	IMP	biological_process
GO:0072139	glomerular parietal epith elial cell differentiatio n	IMP	biological_process
GO:2000768	positive regulation of ne phron tubule epithelial c ell differentiation	IMP	biological_process
GO:0001750	photoreceptor outer segme nt	ISS	cellular_component
GO:0001750	photoreceptor outer segme nt	IEA	cellular_component
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005615	extracellular space	IDA	cellular_component
GO:0005783	endoplasmic reticulum	IEA	cellular_component
GO:0005783	endoplasmic reticulum	IEA	cellular_component
GO:0005783	endoplasmic reticulum	IDA	cellular_component
GO:0005793	endoplasmic reticulum-Gol gi intermediate compartme nt	IEA	cellular_component
GO:0005793	endoplasmic reticulum-Gol gi intermediate compartme nt	IDA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0005929	cilium	IEA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0010842	retina layer formation	ISS	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016324	apical plasma membrane	IEA	cellular_component
GO:0031528	microvillus membrane	IEA	cellular_component
GO:0031982	vesicle	IDA	cellular_component
GO:0042622	photoreceptor outer segme nt membrane	IDA	cellular_component
GO:0042805	actinin binding	IDA	molecular_function
GO:0042995	cell projection	IEA	cellular_component
GO:0043231	intracellular membrane-bo unded organelle	IDA	cellular_component
GO:0045296	cadherin binding	IPI	molecular_function
GO:0045494	photoreceptor cell mainte nance	IMP	biological_process
GO:0060042	retina morphogenesis in c amera-type eye	IMP	biological_process
GO:0060219	camera-type eye photorece ptor cell differentiation	ISS	biological_process
GO:0060219	camera-type eye photorece ptor cell differentiation	IMP	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0072112	glomerular visceral epith elial cell differentiatio n	IMP	biological_process
GO:0072139	glomerular parietal epith elial cell differentiatio n	IMP	biological_process
GO:2000768	positive regulation of ne phron tubule epithelial c ell differentiation	IMP	biological_process
GO:0001750	photoreceptor outer segme nt	ISS	cellular_component
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005615	extracellular space	IDA	cellular_component
GO:0005783	endoplasmic reticulum	IDA	cellular_component
GO:0005793	endoplasmic reticulum-Gol gi intermediate compartme nt	IDA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005887	integral component of pla sma membrane	TAS	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0010842	retina layer formation	ISS	biological_process
GO:0031982	vesicle	IDA	cellular_component
GO:0042622	photoreceptor outer segme nt membrane	IDA	cellular_component
GO:0042805	actinin binding	IDA	molecular_function
GO:0043231	intracellular membrane-bo unded organelle	IDA	cellular_component
GO:0045296	cadherin binding	IPI	molecular_function
GO:0045494	photoreceptor cell mainte nance	IMP	biological_process
GO:0060042	retina morphogenesis in c amera-type eye	IMP	biological_process
GO:0060219	camera-type eye photorece ptor cell differentiation	ISS	biological_process
GO:0060219	camera-type eye photorece ptor cell differentiation	IMP	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0072112	glomerular visceral epith elial cell differentiatio n	IMP	biological_process
GO:0072139	glomerular parietal epith elial cell differentiatio n	IMP	biological_process
GO:2000768	positive regulation of ne phron tubule epithelial c ell differentiation	IMP	biological_process

KEGG pathways

hsa05202 Transcriptional misregulation in cancer

Diseases

Associated diseases	References
Cancer	PMID: 19584075
Cone-rod dystrophy	KEGG: H00481, OMIM: 604365
Endometriosis	PMID: 26753483
Macular dystrophy	OMIM: 604365
Endometriosis	INFBASE26753483
Retinitis pigmentosa	KEGG: H00527, OMIM: 604365
Stargardt disease	KEGG: H00819, OMIM: 604365

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
26753483	Endometrio sis						Show abstract