O43490 (PROM1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Prominin-1

Alternative name(s):
Antigen AC133
Prominin-like protein 1
CD_antigen=CD133

Gene names

Name:	PROM1
Synonyms:	PROML1
ORF Names:	MSTP061

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	865 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Binds cholesterol in cholesterol-containing plasma membrane microdomains. Proposed to play a role in apical plasma membrane organization of epithelial cells. During early retinal development acts as a key regulator of disk morphogenesis. Involved in regulation of MAPK and Akt signaling pathways. In neuroblastoma cells suppresses cell differentiation such as neurite outgrowth in a RET-dependent manner. Ref.15
Subunit structure	Interacts with CDHR1 and with actin filaments. Ref.18
Subcellular location	Cell projection › cilium › photoreceptor outer segment By similarity Ref.2 Ref.13 Ref.14. Isoform 1: Apical cell membrane; Multi-pass membrane protein By similarity. Cell projection › microvillus membrane; Multi-pass membrane protein By similarity. Note: Found in extracellular membrane particles in various body fluids such as cerebrospinal fluid, saliva, seminal fluid and urine. Ref.2 Ref.13 Ref.14
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 expressed in a number of non-lymphoid tissues including retina, pancreas, placenta, kidney, liver, lung, brain and heart. Found in saliva within small membrane particles. Isoform 2 is predominantly expressed in fetal liver, skeletal muscle, kidney, and heart as well as adult pancreas, kidney, liver, lung, and placenta. Isoform 2 is highly expressed in fetal liver, low in bone marrow, and barely detectable in peripheral blood. Isoform 2 is expressed on hematopoietic stem cells and in epidermal basal cells (at protein level). Expressed in adult retina by rod and cone photoreceptor cells (at protein level). Ref.2 Ref.11
Post-translational modification	Isoform 1 and isoform 2 are glycosylated. Ref.2
Involvement in disease	Defects in PROM1 are the cause of retinitis pigmentosa type 41 (RP41) [MIM:612095]; also known as retinal degeneration autosomal recessive prominin-related. RP is a retinal dystrophy belonging to the group of pigmentary retinopathies. RP is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Ref.16 Ref.17 Defects in PROM1 are the cause of cone-rod dystrophy type 12 (CORD12) [MIM:612657]. CORD12 is an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. Ref.18 Defects in PROM1 are the cause of Stargardt disease type 4 (STGD4) [MIM:603786]. Stargardt disease is the most common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. Defects in PROM1 are the cause of retinal macular dystrophy type 2 (MCDR2) [MIM:608051]. MCDR2 is a bull's-eye macular dystrophy characterized by bilateral annular atrophy of retinal pigment epithelium at the macula.
Miscellaneous	Is used as marker for hematopoietic stem and progenitor cells (HSPC) for somatic stem cell isolation.
Sequence similarities	Belongs to the prominin family.

Ontologies

Keywords
Cellular component	Cell membrane Cell projection Cilium Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Cone-rod dystrophy Disease mutation Retinitis pigmentosa Stargardt disease
Domain	Signal Transmembrane Transmembrane helix
PTM	Glycoprotein Phosphoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological process	camera-type eye photoreceptor cell differentiation Inferred from sequence or structural similarity. Source: UniProtKB photoreceptor cell maintenance Inferred from mutant phenotype Ref.18. Source: BHF-UCL retina layer formation Inferred from sequence or structural similarity. Source: UniProtKB
Cellular component	apical plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell cell surface Inferred from direct assay. Source: BHF-UCL integral to plasma membrane Traceable author statement. Source: ProtInc microvillus membrane Inferred from electronic annotation. Source: UniProtKB-SubCell photoreceptor outer segment membrane Inferred from direct assay Ref.18. Source: BHF-UCL plasma membrane Inferred from direct assay Ref.2. Source: UniProtKB
Molecular function	beta-actinin binding Inferred from direct assay. Source: BHF-UCL cadherin binding Inferred from physical interaction Ref.18. Source: BHF-UCL
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
Cdhr1	Q8VHP6	3	EBI-3447549,EBI-4395045	From a different organism.

Alternative products

This entry describes 7 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O43490-1)

Also known as: AC133-1; S2;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: O43490-2)

Also known as: AC133-2; S1;

The sequence of this isoform differs from the canonical sequence as follows:
     92-100: Missing.

Isoform 3 (identifier: O43490-3)

Also known as: S3;

The sequence of this isoform differs from the canonical sequence as follows:
     93-101: Missing.
     831-839: VETIPMKNM → SSWVTSVQC
     840-865: Missing.

Isoform 4 (identifier: O43490-4)

Also known as: S10;

The sequence of this isoform differs from the canonical sequence as follows:
     93-101: Missing.
     839-861: Missing.

Isoform 5 (identifier: O43490-5)

Also known as: S7;

The sequence of this isoform differs from the canonical sequence as follows:
     93-101: Missing.
     831-861: Missing.

Isoform 6 (identifier: O43490-6)

Also known as: S11;

The sequence of this isoform differs from the canonical sequence as follows:
     831-861: Missing.

Isoform 7 (identifier: O43490-7)

Also known as: S12;

The sequence of this isoform differs from the canonical sequence as follows:
     839-861: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 19	19	Potential
	Chain	20 – 865	846	Prominin-1		PRO_0000025813
Regions
	Topological domain	20 – 108	89	Extracellular Potential
	Transmembrane	109 – 129	21	Helical; Potential
	Topological domain	130 – 157	28	Cytoplasmic Potential
	Transmembrane	158 – 178	21	Helical; Potential
	Topological domain	179 – 433	255	Extracellular Potential
	Transmembrane	434 – 454	21	Helical; Potential
	Topological domain	455 – 486	32	Cytoplasmic Potential
	Transmembrane	487 – 507	21	Helical; Potential
	Topological domain	508 – 792	285	Extracellular Potential
	Transmembrane	793 – 813	21	Helical; Potential
	Topological domain	814 – 865	52	Cytoplasmic Potential
Amino acid modifications
	Modified residue	266	1	Phosphothreonine Ref.10
	Modified residue	275	1	Phosphoserine Ref.10
	Modified residue	276	1	Phosphothreonine Ref.10
	Glycosylation	220	1	N-linked (GlcNAc...) Potential
	Glycosylation	274	1	N-linked (GlcNAc...) Potential
	Glycosylation	395	1	N-linked (GlcNAc...) Potential
	Glycosylation	414	1	N-linked (GlcNAc...) Potential
	Glycosylation	548	1	N-linked (GlcNAc...) Potential
	Glycosylation	580	1	N-linked (GlcNAc...) Potential
	Glycosylation	729	1	N-linked (GlcNAc...) Potential
	Glycosylation	730	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	92 – 100	9	Missing in isoform 2.		VSP_039069
	Alternative sequence	93 – 101	9	Missing in isoform 3, isoform 4 and isoform 5.		VSP_040000
	Alternative sequence	831 – 861	31	Missing in isoform 5 and isoform 6.		VSP_040001
	Alternative sequence	831 – 839	9	VETIPMKNM → SSWVTSVQC in isoform 3.		VSP_040002
	Alternative sequence	839 – 861	23	Missing in isoform 4 and isoform 7.		VSP_040003
	Alternative sequence	840 – 865	26	Missing in isoform 3.		VSP_040004
	Natural variant	31	1	A → G.		VAR_010382
	Natural variant	31	1	A → S.		VAR_010383
	Natural variant	373	1	R → C in CORD12, STGD4 and MCDR2; affects the interaction with CDHR1 and actin. Ref.18		VAR_057961
Experimental info
	Sequence conflict	200	1	D → A AA sequence Ref.1
	Sequence conflict	200	1	D → P AA sequence Ref.1
	Sequence conflict	284	1	S → D AA sequence Ref.1
	Sequence conflict	288	1	S → R AA sequence Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (AC133-1) (S2) [UniParc]. Last modified June 1, 1998. Version 1. Checksum: D21CBC05ADB2DEDF	FASTA	865	97,202
	10 20 30 40 50 60 MALVLGSLLL LGLCGNSFSG GQPSSTDAPK AWNYELPATN YETQDSHKAG PIGILFELVH 70 80 90 100 110 120 IFLYVVQPRD FPEDTLRKFL QKAYESKIDY DKPETVILGL KIVYYEAGII LCCVLGLLFI 130 140 150 160 170 180 ILMPLVGYFF CMCRCCNKCG GEMHQRQKEN GPFLRKCFAI SLLVICIIIS IGIFYGFVAN 190 200 210 220 230 240 HQVRTRIKRS RKLADSNFKD LRTLLNETPE QIKYILAQYN TTKDKAFTDL NSINSVLGGG 250 260 270 280 290 300 ILDRLRPNII PVLDEIKSMA TAIKETKEAL ENMNSTLKSL HQQSTQLSSS LTSVKTSLRS 310 320 330 340 350 360 SLNDPLCLVH PSSETCNSIR LSLSQLNSNP ELRQLPPVDA ELDNVNNVLR TDLDGLVQQG 370 380 390 400 410 420 YQSLNDIPDR VQRQTTTVVA GIKRVLNSIG SDIDNVTQRL PIQDILSAFS VYVNNTESYI 430 440 450 460 470 480 HRNLPTLEEY DSYWWLGGLV ICSLLTLIVI FYYLGLLCGV CGYDRHATPT TRGCVSNTGG 490 500 510 520 530 540 VFLMVGVGLS FLFCWILMII VVLTFVFGAN VEKLICEPYT SKELFRVLDT PYLLNEDWEY 550 560 570 580 590 600 YLSGKLFNKS KMKLTFEQVY SDCKKNRGTY GTLHLQNSFN ISEHLNINEH TGSISSELES 610 620 630 640 650 660 LKVNLNIFLL GAAGRKNLQD FAACGIDRMN YDSYLAQTGK SPAGVNLLSF AYDLEAKANS 670 680 690 700 710 720 LPPGNLRNSL KRDAQTIKTI HQQRVLPIEQ SLSTLYQSVK ILQRTGNGLL ERVTRILASL 730 740 750 760 770 780 DFAQNFITNN TSSVIIEETK KYGRTIIGYF EHYLQWIEFS ISEKVASCKP VATALDTAVD 790 800 810 820 830 840 VFLCSYIIDP LNLFWFGIGK ATVFLLPALI FAVKLAKYYR RMDSEDVYDD VETIPMKNME 850 860 NGNNGYHKDH VYGIHNPVMT SPSQH
	Isoform 2 (AC133-2) (S1) [UniParc]. Checksum: DFF0B7AFE0A02582	FASTA	856	96,251
	10 20 30 40 50 60 MALVLGSLLL LGLCGNSFSG GQPSSTDAPK AWNYELPATN YETQDSHKAG PIGILFELVH 70 80 90 100 110 120 IFLYVVQPRD FPEDTLRKFL QKAYESKIDY DKIVYYEAGI ILCCVLGLLF IILMPLVGYF 130 140 150 160 170 180 FCMCRCCNKC GGEMHQRQKE NGPFLRKCFA ISLLVICIII SIGIFYGFVA NHQVRTRIKR 190 200 210 220 230 240 SRKLADSNFK DLRTLLNETP EQIKYILAQY NTTKDKAFTD LNSINSVLGG GILDRLRPNI 250 260 270 280 290 300 IPVLDEIKSM ATAIKETKEA LENMNSTLKS LHQQSTQLSS SLTSVKTSLR SSLNDPLCLV 310 320 330 340 350 360 HPSSETCNSI RLSLSQLNSN PELRQLPPVD AELDNVNNVL RTDLDGLVQQ GYQSLNDIPD 370 380 390 400 410 420 RVQRQTTTVV AGIKRVLNSI GSDIDNVTQR LPIQDILSAF SVYVNNTESY IHRNLPTLEE 430 440 450 460 470 480 YDSYWWLGGL VICSLLTLIV IFYYLGLLCG VCGYDRHATP TTRGCVSNTG GVFLMVGVGL 490 500 510 520 530 540 SFLFCWILMI IVVLTFVFGA NVEKLICEPY TSKELFRVLD TPYLLNEDWE YYLSGKLFNK 550 560 570 580 590 600 SKMKLTFEQV YSDCKKNRGT YGTLHLQNSF NISEHLNINE HTGSISSELE SLKVNLNIFL 610 620 630 640 650 660 LGAAGRKNLQ DFAACGIDRM NYDSYLAQTG KSPAGVNLLS FAYDLEAKAN SLPPGNLRNS 670 680 690 700 710 720 LKRDAQTIKT IHQQRVLPIE QSLSTLYQSV KILQRTGNGL LERVTRILAS LDFAQNFITN 730 740 750 760 770 780 NTSSVIIEET KKYGRTIIGY FEHYLQWIEF SISEKVASCK PVATALDTAV DVFLCSYIID 790 800 810 820 830 840 PLNLFWFGIG KATVFLLPAL IFAVKLAKYY RRMDSEDVYD DVETIPMKNM ENGNNGYHKD 850 HVYGIHNPVM TSPSQH
	Isoform 3 (S3) [UniParc]. Checksum: 00784B26BE20782F	FASTA	830	93,270
	10 20 30 40 50 60 MALVLGSLLL LGLCGNSFSG GQPSSTDAPK AWNYELPATN YETQDSHKAG PIGILFELVH 70 80 90 100 110 120 IFLYVVQPRD FPEDTLRKFL QKAYESKIDY DKIVYYEAGI ILCCVLGLLF IILMPLVGYF 130 140 150 160 170 180 FCMCRCCNKC GGEMHQRQKE NGPFLRKCFA ISLLVICIII SIGIFYGFVA NHQVRTRIKR 190 200 210 220 230 240 SRKLADSNFK DLRTLLNETP EQIKYILAQY NTTKDKAFTD LNSINSVLGG GILDRLRPNI 250 260 270 280 290 300 IPVLDEIKSM ATAIKETKEA LENMNSTLKS LHQQSTQLSS SLTSVKTSLR SSLNDPLCLV 310 320 330 340 350 360 HPSSETCNSI RLSLSQLNSN PELRQLPPVD AELDNVNNVL RTDLDGLVQQ GYQSLNDIPD 370 380 390 400 410 420 RVQRQTTTVV AGIKRVLNSI GSDIDNVTQR LPIQDILSAF SVYVNNTESY IHRNLPTLEE 430 440 450 460 470 480 YDSYWWLGGL VICSLLTLIV IFYYLGLLCG VCGYDRHATP TTRGCVSNTG GVFLMVGVGL 490 500 510 520 530 540 SFLFCWILMI IVVLTFVFGA NVEKLICEPY TSKELFRVLD TPYLLNEDWE YYLSGKLFNK 550 560 570 580 590 600 SKMKLTFEQV YSDCKKNRGT YGTLHLQNSF NISEHLNINE HTGSISSELE SLKVNLNIFL 610 620 630 640 650 660 LGAAGRKNLQ DFAACGIDRM NYDSYLAQTG KSPAGVNLLS FAYDLEAKAN SLPPGNLRNS 670 680 690 700 710 720 LKRDAQTIKT IHQQRVLPIE QSLSTLYQSV KILQRTGNGL LERVTRILAS LDFAQNFITN 730 740 750 760 770 780 NTSSVIIEET KKYGRTIIGY FEHYLQWIEF SISEKVASCK PVATALDTAV DVFLCSYIID 790 800 810 820 830 PLNLFWFGIG KATVFLLPAL IFAVKLAKYY RRMDSEDVYD DSSWVTSVQC
	Isoform 4 (S10) [UniParc]. Checksum: FB1AA693EBCAC598	FASTA	833	93,654
	10 20 30 40 50 60 MALVLGSLLL LGLCGNSFSG GQPSSTDAPK AWNYELPATN YETQDSHKAG PIGILFELVH 70 80 90 100 110 120 IFLYVVQPRD FPEDTLRKFL QKAYESKIDY DKIVYYEAGI ILCCVLGLLF IILMPLVGYF 130 140 150 160 170 180 FCMCRCCNKC GGEMHQRQKE NGPFLRKCFA ISLLVICIII SIGIFYGFVA NHQVRTRIKR 190 200 210 220 230 240 SRKLADSNFK DLRTLLNETP EQIKYILAQY NTTKDKAFTD LNSINSVLGG GILDRLRPNI 250 260 270 280 290 300 IPVLDEIKSM ATAIKETKEA LENMNSTLKS LHQQSTQLSS SLTSVKTSLR SSLNDPLCLV 310 320 330 340 350 360 HPSSETCNSI RLSLSQLNSN PELRQLPPVD AELDNVNNVL RTDLDGLVQQ GYQSLNDIPD 370 380 390 400 410 420 RVQRQTTTVV AGIKRVLNSI GSDIDNVTQR LPIQDILSAF SVYVNNTESY IHRNLPTLEE 430 440 450 460 470 480 YDSYWWLGGL VICSLLTLIV IFYYLGLLCG VCGYDRHATP TTRGCVSNTG GVFLMVGVGL 490 500 510 520 530 540 SFLFCWILMI IVVLTFVFGA NVEKLICEPY TSKELFRVLD TPYLLNEDWE YYLSGKLFNK 550 560 570 580 590 600 SKMKLTFEQV YSDCKKNRGT YGTLHLQNSF NISEHLNINE HTGSISSELE SLKVNLNIFL 610 620 630 640 650 660 LGAAGRKNLQ DFAACGIDRM NYDSYLAQTG KSPAGVNLLS FAYDLEAKAN SLPPGNLRNS 670 680 690 700 710 720 LKRDAQTIKT IHQQRVLPIE QSLSTLYQSV KILQRTGNGL LERVTRILAS LDFAQNFITN 730 740 750 760 770 780 NTSSVIIEET KKYGRTIIGY FEHYLQWIEF SISEKVASCK PVATALDTAV DVFLCSYIID 790 800 810 820 830 PLNLFWFGIG KATVFLLPAL IFAVKLAKYY RRMDSEDVYD DVETIPMKNP SQH
	Isoform 5 (S7) [UniParc]. Checksum: 735D8F41DA466FE8	FASTA	825	92,741
	10 20 30 40 50 60 MALVLGSLLL LGLCGNSFSG GQPSSTDAPK AWNYELPATN YETQDSHKAG PIGILFELVH 70 80 90 100 110 120 IFLYVVQPRD FPEDTLRKFL QKAYESKIDY DKIVYYEAGI ILCCVLGLLF IILMPLVGYF 130 140 150 160 170 180 FCMCRCCNKC GGEMHQRQKE NGPFLRKCFA ISLLVICIII SIGIFYGFVA NHQVRTRIKR 190 200 210 220 230 240 SRKLADSNFK DLRTLLNETP EQIKYILAQY NTTKDKAFTD LNSINSVLGG GILDRLRPNI 250 260 270 280 290 300 IPVLDEIKSM ATAIKETKEA LENMNSTLKS LHQQSTQLSS SLTSVKTSLR SSLNDPLCLV 310 320 330 340 350 360 HPSSETCNSI RLSLSQLNSN PELRQLPPVD AELDNVNNVL RTDLDGLVQQ GYQSLNDIPD 370 380 390 400 410 420 RVQRQTTTVV AGIKRVLNSI GSDIDNVTQR LPIQDILSAF SVYVNNTESY IHRNLPTLEE 430 440 450 460 470 480 YDSYWWLGGL VICSLLTLIV IFYYLGLLCG VCGYDRHATP TTRGCVSNTG GVFLMVGVGL 490 500 510 520 530 540 SFLFCWILMI IVVLTFVFGA NVEKLICEPY TSKELFRVLD TPYLLNEDWE YYLSGKLFNK 550 560 570 580 590 600 SKMKLTFEQV YSDCKKNRGT YGTLHLQNSF NISEHLNINE HTGSISSELE SLKVNLNIFL 610 620 630 640 650 660 LGAAGRKNLQ DFAACGIDRM NYDSYLAQTG KSPAGVNLLS FAYDLEAKAN SLPPGNLRNS 670 680 690 700 710 720 LKRDAQTIKT IHQQRVLPIE QSLSTLYQSV KILQRTGNGL LERVTRILAS LDFAQNFITN 730 740 750 760 770 780 NTSSVIIEET KKYGRTIIGY FEHYLQWIEF SISEKVASCK PVATALDTAV DVFLCSYIID 790 800 810 820 PLNLFWFGIG KATVFLLPAL IFAVKLAKYY RRMDSEDVYD DPSQH
	Isoform 6 (S11) [UniParc]. Checksum: 2640B433DC3E9328	FASTA	834	93,692
	10 20 30 40 50 60 MALVLGSLLL LGLCGNSFSG GQPSSTDAPK AWNYELPATN YETQDSHKAG PIGILFELVH 70 80 90 100 110 120 IFLYVVQPRD FPEDTLRKFL QKAYESKIDY DKPETVILGL KIVYYEAGII LCCVLGLLFI 130 140 150 160 170 180 ILMPLVGYFF CMCRCCNKCG GEMHQRQKEN GPFLRKCFAI SLLVICIIIS IGIFYGFVAN 190 200 210 220 230 240 HQVRTRIKRS RKLADSNFKD LRTLLNETPE QIKYILAQYN TTKDKAFTDL NSINSVLGGG 250 260 270 280 290 300 ILDRLRPNII PVLDEIKSMA TAIKETKEAL ENMNSTLKSL HQQSTQLSSS LTSVKTSLRS 310 320 330 340 350 360 SLNDPLCLVH PSSETCNSIR LSLSQLNSNP ELRQLPPVDA ELDNVNNVLR TDLDGLVQQG 370 380 390 400 410 420 YQSLNDIPDR VQRQTTTVVA GIKRVLNSIG SDIDNVTQRL PIQDILSAFS VYVNNTESYI 430 440 450 460 470 480 HRNLPTLEEY DSYWWLGGLV ICSLLTLIVI FYYLGLLCGV CGYDRHATPT TRGCVSNTGG 490 500 510 520 530 540 VFLMVGVGLS FLFCWILMII VVLTFVFGAN VEKLICEPYT SKELFRVLDT PYLLNEDWEY 550 560 570 580 590 600 YLSGKLFNKS KMKLTFEQVY SDCKKNRGTY GTLHLQNSFN ISEHLNINEH TGSISSELES 610 620 630 640 650 660 LKVNLNIFLL GAAGRKNLQD FAACGIDRMN YDSYLAQTGK SPAGVNLLSF AYDLEAKANS 670 680 690 700 710 720 LPPGNLRNSL KRDAQTIKTI HQQRVLPIEQ SLSTLYQSVK ILQRTGNGLL ERVTRILASL 730 740 750 760 770 780 DFAQNFITNN TSSVIIEETK KYGRTIIGYF EHYLQWIEFS ISEKVASCKP VATALDTAVD 790 800 810 820 830 VFLCSYIIDP LNLFWFGIGK ATVFLLPALI FAVKLAKYYR RMDSEDVYDD PSQH
	Isoform 7 (S12) [UniParc]. Checksum: 8B7B74818E26D76C	FASTA	842	94,605
	10 20 30 40 50 60 MALVLGSLLL LGLCGNSFSG GQPSSTDAPK AWNYELPATN YETQDSHKAG PIGILFELVH 70 80 90 100 110 120 IFLYVVQPRD FPEDTLRKFL QKAYESKIDY DKPETVILGL KIVYYEAGII LCCVLGLLFI 130 140 150 160 170 180 ILMPLVGYFF CMCRCCNKCG GEMHQRQKEN GPFLRKCFAI SLLVICIIIS IGIFYGFVAN 190 200 210 220 230 240 HQVRTRIKRS RKLADSNFKD LRTLLNETPE QIKYILAQYN TTKDKAFTDL NSINSVLGGG 250 260 270 280 290 300 ILDRLRPNII PVLDEIKSMA TAIKETKEAL ENMNSTLKSL HQQSTQLSSS LTSVKTSLRS 310 320 330 340 350 360 SLNDPLCLVH PSSETCNSIR LSLSQLNSNP ELRQLPPVDA ELDNVNNVLR TDLDGLVQQG 370 380 390 400 410 420 YQSLNDIPDR VQRQTTTVVA GIKRVLNSIG SDIDNVTQRL PIQDILSAFS VYVNNTESYI 430 440 450 460 470 480 HRNLPTLEEY DSYWWLGGLV ICSLLTLIVI FYYLGLLCGV CGYDRHATPT TRGCVSNTGG 490 500 510 520 530 540 VFLMVGVGLS FLFCWILMII VVLTFVFGAN VEKLICEPYT SKELFRVLDT PYLLNEDWEY 550 560 570 580 590 600 YLSGKLFNKS KMKLTFEQVY SDCKKNRGTY GTLHLQNSFN ISEHLNINEH TGSISSELES 610 620 630 640 650 660 LKVNLNIFLL GAAGRKNLQD FAACGIDRMN YDSYLAQTGK SPAGVNLLSF AYDLEAKANS 670 680 690 700 710 720 LPPGNLRNSL KRDAQTIKTI HQQRVLPIEQ SLSTLYQSVK ILQRTGNGLL ERVTRILASL 730 740 750 760 770 780 DFAQNFITNN TSSVIIEETK KYGRTIIGYF EHYLQWIEFS ISEKVASCKP VATALDTAVD 790 800 810 820 830 840 VFLCSYIIDP LNLFWFGIGK ATVFLLPALI FAVKLAKYYR RMDSEDVYDD VETIPMKNPS QH

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A novel five-transmembrane hematopoietic stem cell antigen: isolation, characterization, and molecular cloning." Miraglia S., Godfrey W., Yin A.H., Atkins K., Warnke R., Holden J.T., Bray R.A., Waller E.K., Buck D.W. Blood 90:5013-5021(1997) [PubMed: 9389721] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 31-42; 200-211; 280-291 AND 641-656. Tissue: Fetal liver and Retinoblastoma.
[2]	"AC133-2, a novel isoform of human AC133 stem cell antigen." Yu Y., Flint A., Dvorin E.L., Bischoff J. J. Biol. Chem. 277:20711-20716(2002) [PubMed: 12042327] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, GLYCOSYLATION.
[3]	"Identification and functional analysis of several isoforms of hematopoitic stem cell surface maker prominin-1 (AC133)." Lin J., Shmelkov S.V., Karajannis M.A., StClair R., Walsh K., Gordon R., Shido K., Lam G., Moussazadeh N., Shim W., Rafii S. Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
[4]	Wang X.Y., Zhao B., Liu B., Xu Y.Y., Liu Y.Q., Cao H.Q., Sheng H., Ye J., Song L., Wei Y.J., Liu S., Liu L.S., Ding J.F., Gao R.L., Wu Q.Y., Qiang B.Q., Yuan J.G., Liew C.C., Zhao M.S., Hui R.T. Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Aorta.
[5]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[6]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Colon.
[9]	"AC133, a novel marker for human hematopoietic stem and progenitor cells." Yin A.H., Miraglia S., Zanjani E.D., Almeida-Porada G., Ogawa M., Leary A.G., Olweus J., Kearney J., Buck D.W. Blood 90:5002-5012(1997) [PubMed: 9389720] [Abstract] Cited for: CHARACTERIZATION. Tissue: Fetal liver.
[10]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-266; SER-275 AND THR-276, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[11]	"Differential expression of prominin-1 (CD133) and prominin-2 in major cephalic exocrine glands of adult mice." Jaszai J., Janich P., Farkas L.M., Fargeas C.A., Huttner W.B., Corbeil D. Histochem. Cell Biol. 128:409-419(2007) [PubMed: 17874118] [Abstract] Cited for: TISSUE SPECIFICITY.
[12]	"Nomenclature of prominin-1 (CD133) splice variants - an update." Fargeas C.A., Huttner W.B., Corbeil D. Tissue Antigens 69:602-606(2007) [PubMed: 17498271] [Abstract] Cited for: NOMENCLATURE OF ISOFORMS.
[13]	"The stem cell marker prominin-1/CD133 on membrane particles in human cerebrospinal fluid offers novel approaches for studying central nervous system disease." Huttner H.B., Janich P., Koehrmann M., Jaszai J., Siebzehnrubl F., Bluemcke I., Suttorp M., Gahr M., Kuhnt D., Nimsky C., Krex D., Schackert G., Loewenbrueck K., Reichmann H., Juettler E., Hacke W., Schellinger P.D., Schwab S. , Wilsch-Braeuninger M., Marzesco A.M., Corbeil D. Stem Cells 26:698-705(2008) [PubMed: 18096722] [Abstract] Cited for: SUBCELLULAR LOCATION.
[14]	"Release of extracellular membrane vesicles from microvilli of epithelial cells is enhanced by depleting membrane cholesterol." Marzesco A.M., Wilsch-Brauninger M., Dubreuil V., Janich P., Langenfeld K., Thiele C., Huttner W.B., Corbeil D. FEBS Lett. 583:897-902(2009) [PubMed: 19302789] [Abstract] Cited for: SUBCELLULAR LOCATION.
[15]	"CD133 suppresses neuroblastoma cell differentiation via signal pathway modification." Takenobu H., Shimozato O., Nakamura T., Ochiai H., Yamaguchi Y., Ohira M., Nakagawara A., Kamijo T. Oncogene 30:97-105(2011) [PubMed: 20818439] [Abstract] Cited for: FUNCTION.
[16]	"A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration." Maw M.A., Corbeil D., Koch J., Hellwig A., Wilson-Wheeler J.C., Bridges R.J., Kumaramanickavel G., John S., Nancarrow D., Roeper K., Weigmann A., Huttner W.B., Denton M.J. Hum. Mol. Genet. 9:27-34(2000) [PubMed: 10587575] [Abstract] Cited for: INVOLVEMENT IN RP41.
[17]	"Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene." Zhang Q., Zulfiqar F., Xiao X., Riazuddin S.A., Ahmad Z., Caruso R., MacDonald I., Sieving P., Riazuddin S., Hejtmancik J.F. Hum. Genet. 122:293-299(2007) [PubMed: 17605048] [Abstract] Cited for: INVOLVEMENT IN RP41.
[18]	"Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice." Yang Z., Chen Y., Lillo C., Chien J., Yu Z., Michaelides M., Klein M., Howes K.A., Li Y., Kaminoh Y., Chen H., Zhao C., Chen Y., Al-Sheikh Y.T., Karan G., Corbeil D., Escher P., Kamaya S. , Li C., Johnson S., Frederick J.M., Zhao Y., Wang C., Cameron D.J., Huttner W.B., Schorderet D.F., Munier F.L., Moore A.T., Birch D.G., Baehr W., Hunt D.M., Williams D.S., Zhang K. J. Clin. Invest. 118:2908-2916(2008) [PubMed: 18654668] [Abstract] Cited for: VARIANT CORD12/STGD4/MCDR2 CYS-373, INTERACTION WITH CDHR1 AND ACTIN, CHARACTERIZATION OF VARIANT CORD12/STGD4/MCDR2 CYS-373.
+	Additional computationally mapped references.

Web resources

Mutations of the PROM1 gene

Retina International's Scientific Newsletter

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF027208 mRNA. Translation: AAB92514.1. AF507034 mRNA. Translation: AAM33415.1. AY449689 mRNA. Translation: AAS19705.1. AY449690 mRNA. Translation: AAS19706.1. AY449691 mRNA. Translation: AAS19707.1. AY449692 mRNA. Translation: AAS19708.1. AY449693 mRNA. Translation: AAS19709.1. AF117225 mRNA. Translation: AAO15307.1. AK027422 mRNA. Translation: BAG51317.1. AC005598 Genomic DNA. No translation available. AC108063 Genomic DNA. No translation available. CH471069 Genomic DNA. Translation: EAW92750.1. BC012089 mRNA. Translation: AAH12089.1.
IPI	IPI00012540. IPI00925014. IPI00925225. IPI00925467. IPI00925712. IPI00926171. IPI00971071.
PIR	T09050.
RefSeq	NP_001139319.1. NM_001145847.1. NP_001139320.1. NM_001145848.1. NP_001139321.1. NM_001145849.1. NP_001139322.1. NM_001145850.1. NP_001139323.1. NM_001145851.1. NP_001139324.1. NM_001145852.1. NP_006008.1. NM_006017.2.
UniGene	Hs.614734.
3D structure databases
ProteinModelPortal	O43490.
ModBase	Search...
Protein-protein interaction databases
IntAct	O43490. 4 interactions.
STRING	O43490.
PTM databases
PhosphoSite	O43490.
Proteomic databases
PRIDE	O43490.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000265014; ENSP00000265014; ENSG00000007062. ENST00000447510; ENSP00000415481; ENSG00000007062. ENST00000505450; ENSP00000426090; ENSG00000007062. ENST00000508167; ENSP00000427346; ENSG00000007062. ENST00000510224; ENSP00000426809; ENSG00000007062.
GeneID	8842.
KEGG	hsa:8842.
UCSC	uc003goo.1. human.
Organism-specific databases
CTD	8842.
GeneCards	GC04M015965.
H-InvDB	HIX0004116.
HGNC	HGNC:9454. PROM1.
HPA	CAB011525. HPA004922. HPA031053.
MIM	603786. phenotype. 604365. gene. 608051. phenotype. 612095. phenotype. 612657. phenotype.
neXtProt	NX_O43490.
Orphanet	1872. Cone rod dystrophy. 791. Retinitis pigmentosa. 827. Stargardt disease.
PharmGKB	PA33807.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG15525.
HOGENOM	HBG444223.
HOVERGEN	HBG053690.
InParanoid	O43490.
OMA	IILMPLV.
PhylomeDB	O43490.
Gene expression databases
ArrayExpress	O43490.
Bgee	O43490.
CleanEx	HS_PROM1.
Genevestigator	O43490.
GermOnline	ENSG00000007062. Homo sapiens.
Family and domain databases
InterPro	IPR008795. Prominin. [Graphical view]
KO	K06532.
PANTHER	PTHR22730. Prominin. 1 hit.
Pfam	PF05478. Prominin. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	33194.
SOURCE	Search...

Entry information

Entry name

PROM1_HUMAN

Accession

Primary (citable) accession number: O43490
Secondary accession number(s): Q6SV49 , Q6SV50, Q6SV51, Q6SV52, Q6SV53, Q96EN6

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 21, 2001
Last sequence update:	June 1, 1998
Last modified:	January 25, 2012
This is version 111 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.