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Protein

Oxysterol-binding protein-related protein 5

Gene

OSBPL5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May cooperate with NPC1 to mediate the exit of cholesterol from endosomes/lysosomes.1 Publication

GO - Molecular functioni

  1. cholesterol binding Source: BHF-UCL
  2. oxysterol binding Source: UniProtKB

GO - Biological processi

  1. cholesterol metabolic process Source: UniProtKB
  2. cholesterol transport Source: UniProtKB
  3. Golgi to plasma membrane transport Source: UniProtKB
  4. lipid transport Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Lipid transport, Transport

Keywords - Ligandi

Lipid-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Oxysterol-binding protein-related protein 5
Short name:
ORP-5
Short name:
OSBP-related protein 5
Alternative name(s):
Oxysterol-binding protein homolog 1
Gene namesi
Name:OSBPL5
Synonyms:KIAA1534, OBPH1, ORP5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:16392. OSBPL5.

Subcellular locationi

Endoplasmic reticulum membrane 1 Publication; Single-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei860 – 87819HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. cytosol Source: UniProtKB
  2. endoplasmic reticulum membrane Source: UniProtKB-SubCell
  3. integral component of membrane Source: UniProtKB-KW
  4. membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA32829.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 879879Oxysterol-binding protein-related protein 5PRO_0000100373Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei747 – 7471Phosphoserine3 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9H0X9.
PaxDbiQ9H0X9.
PRIDEiQ9H0X9.

PTM databases

PhosphoSiteiQ9H0X9.

Expressioni

Tissue specificityi

Ubiquitously expressed.2 Publications

Gene expression databases

BgeeiQ9H0X9.
CleanExiHS_OSBPL5.
ExpressionAtlasiQ9H0X9. baseline and differential.
GenevestigatoriQ9H0X9.

Organism-specific databases

HPAiHPA038712.
HPA058727.

Interactioni

Protein-protein interaction databases

BioGridi125380. 4 interactions.
IntActiQ9H0X9. 1 interaction.
MINTiMINT-4722889.
STRINGi9606.ENSP00000263650.

Structurei

3D structure databases

ProteinModelPortaliQ9H0X9.
SMRiQ9H0X9. Positions 125-243, 369-726.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini126 – 243118PHPROSITE-ProRule annotationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili93 – 12331Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the OSBP family.Curated
Contains 1 PH domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG262374.
GeneTreeiENSGT00550000074515.
HOGENOMiHOG000233870.
HOVERGENiHBG053375.
InParanoidiQ9H0X9.
OMAiWFLLCIF.
OrthoDBiEOG7D59MQ.
PhylomeDBiQ9H0X9.
TreeFamiTF312807.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR000648. Oxysterol-bd.
IPR018494. Oxysterol-bd_CS.
IPR001849. PH_domain.
IPR011993. PH_like_dom.
[Graphical view]
PANTHERiPTHR10972. PTHR10972. 1 hit.
PfamiPF01237. Oxysterol_BP. 1 hit.
PF00169. PH. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
[Graphical view]
PROSITEiPS01013. OSBP. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H0X9-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MKEEAFLRRR FSLCPPSSTP QKVDPRKLTR NLLLSGDNEL YPLSPGKDME
60 70 80 90 100
PNGPSLPRDE GPPTPSSATK VPPAEYRLCN GSDKECVSPT ARVTKKETLK
110 120 130 140 150
AQKENYRQEK KRATRQLLSA LTDPSVVIMA DSLKIRGTLK SWTKLWCVLK
160 170 180 190 200
PGVLLIYKTP KVGQWVGTVL LHCCELIERP SKKDGFCFKL FHPLDQSVWA
210 220 230 240 250
VKGPKGESVG SITQPLPSSY LIFRAASESD GRCWLDALEL ALRCSSLLRL
260 270 280 290 300
GTCKPGRDGE PGTSPDASPS SLCGLPASAT VHPDQDLFPL NGSSLENDAF
310 320 330 340 350
SDKSERENPE ESDTETQDHS RKTESGSDQS ETPGAPVRRG TTYVEQVQEE
360 370 380 390 400
LGELGEASQV ETVSEENKSL MWTLLKQLRP GMDLSRVVLP TFVLEPRSFL
410 420 430 440 450
NKLSDYYYHA DLLSRAAVEE DAYSRMKLVL RWYLSGFYKK PKGIKKPYNP
460 470 480 490 500
ILGETFRCCW FHPQTDSRTF YIAEQVSHHP PVSAFHVSNR KDGFCISGSI
510 520 530 540 550
TAKSRFYGNS LSALLDGKAT LTFLNRAEDY TLTMPYAHCK GILYGTMTLE
560 570 580 590 600
LGGKVTIECA KNNFQAQLEF KLKPFFGGST SINQISGKIT SGEEVLASLS
610 620 630 640 650
GHWDRDVFIK EEGSGSSALF WTPSGEVRRQ RLRQHTVPLE EQTELESERL
660 670 680 690 700
WQHVTRAISK GDQHRATQEK FALEEAQRQR ARERQESLMP WKPQLFHLDP
710 720 730 740 750
ITQEWHYRYE DHSPWDPLKD IAQFEQDGIL RTLQQEAVAR QTTFLGSPGP
760 770 780 790 800
RHERSGPDQR LRKASDQPSG HSQATESSGS TPESCPELSD EEQDGDFVPG
810 820 830 840 850
GESPCPRCRK EARRLQALHE AILSIREAQQ ELHRHLSAML SSTARAAQAP
860 870
TPGLLQSPRS WFLLCVFLAC QLFINHILK
Length:879
Mass (Da):98,616
Last modified:March 1, 2001 - v1
Checksum:i7EF06544347CC60A
GO
Isoform 2 (identifier: Q9H0X9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     134-201: Missing.

Note: No experimental confirmation available.

Show »
Length:811
Mass (Da):90,794
Checksum:iECBEEE16DCF1B998
GO
Isoform 3 (identifier: Q9H0X9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-48: Missing.
     161-201: Missing.

Note: No experimental confirmation available.

Show »
Length:790
Mass (Da):88,435
Checksum:i6DAA25EEFBC0CEB6
GO

Sequence cautioni

The sequence BAA96058.1 differs from that shown.Contaminating sequence. Sequence of unknown origin in the N-terminal part.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti90 – 901T → I.
Corresponds to variant rs6578323 [ dbSNP | Ensembl ].
VAR_060079
Natural varianti774 – 7741A → T.
Corresponds to variant rs2277301 [ dbSNP | Ensembl ].
VAR_020414

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 4848Missing in isoform 3. 1 PublicationVSP_057408Add
BLAST
Alternative sequencei134 – 20168Missing in isoform 2. 1 PublicationVSP_043071Add
BLAST
Alternative sequencei161 – 20141Missing in isoform 3. 1 PublicationVSP_057409Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB074006 mRNA. Translation: BAB85686.1.
AF392453 mRNA. Translation: AAL40666.1.
AF410430 mRNA. Translation: AAK98617.1.
AL136918 mRNA. Translation: CAB66852.1.
AK056510 mRNA. Translation: BAG51735.1.
AK301003 mRNA. Translation: BAG62622.1.
AC108448 Genomic DNA. No translation available.
KC877382 Genomic DNA. No translation available.
KF455307 Genomic DNA. No translation available.
KF455310 Genomic DNA. No translation available.
CH471158 Genomic DNA. Translation: EAX02542.1.
CH471158 Genomic DNA. Translation: EAX02543.1.
BC032646 mRNA. Translation: AAH32646.2.
BC039579 mRNA. Translation: AAH39579.1.
AF331964 mRNA. Translation: AAG53417.1.
AB040967 mRNA. Translation: BAA96058.1. Sequence problems.
CCDSiCCDS31343.1. [Q9H0X9-2]
CCDS31344.1. [Q9H0X9-1]
RefSeqiNP_001137535.1. NM_001144063.1. [Q9H0X9-2]
NP_065947.1. NM_020896.3. [Q9H0X9-1]
NP_663613.1. NM_145638.2. [Q9H0X9-2]
UniGeneiHs.436166.

Genome annotation databases

EnsembliENST00000263650; ENSP00000263650; ENSG00000021762. [Q9H0X9-1]
ENST00000348039; ENSP00000302872; ENSG00000021762. [Q9H0X9-2]
ENST00000389989; ENSP00000374639; ENSG00000021762. [Q9H0X9-2]
ENST00000525498; ENSP00000433342; ENSG00000021762. [Q9H0X9-3]
GeneIDi114879.
KEGGihsa:114879.
UCSCiuc001lxk.2. human. [Q9H0X9-1]
uc001lxl.2. human. [Q9H0X9-2]

Polymorphism databases

DMDMi20139173.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB074006 mRNA. Translation: BAB85686.1.
AF392453 mRNA. Translation: AAL40666.1.
AF410430 mRNA. Translation: AAK98617.1.
AL136918 mRNA. Translation: CAB66852.1.
AK056510 mRNA. Translation: BAG51735.1.
AK301003 mRNA. Translation: BAG62622.1.
AC108448 Genomic DNA. No translation available.
KC877382 Genomic DNA. No translation available.
KF455307 Genomic DNA. No translation available.
KF455310 Genomic DNA. No translation available.
CH471158 Genomic DNA. Translation: EAX02542.1.
CH471158 Genomic DNA. Translation: EAX02543.1.
BC032646 mRNA. Translation: AAH32646.2.
BC039579 mRNA. Translation: AAH39579.1.
AF331964 mRNA. Translation: AAG53417.1.
AB040967 mRNA. Translation: BAA96058.1. Sequence problems.
CCDSiCCDS31343.1. [Q9H0X9-2]
CCDS31344.1. [Q9H0X9-1]
RefSeqiNP_001137535.1. NM_001144063.1. [Q9H0X9-2]
NP_065947.1. NM_020896.3. [Q9H0X9-1]
NP_663613.1. NM_145638.2. [Q9H0X9-2]
UniGeneiHs.436166.

3D structure databases

ProteinModelPortaliQ9H0X9.
SMRiQ9H0X9. Positions 125-243, 369-726.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125380. 4 interactions.
IntActiQ9H0X9. 1 interaction.
MINTiMINT-4722889.
STRINGi9606.ENSP00000263650.

PTM databases

PhosphoSiteiQ9H0X9.

Polymorphism databases

DMDMi20139173.

Proteomic databases

MaxQBiQ9H0X9.
PaxDbiQ9H0X9.
PRIDEiQ9H0X9.

Protocols and materials databases

DNASUi114879.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263650; ENSP00000263650; ENSG00000021762. [Q9H0X9-1]
ENST00000348039; ENSP00000302872; ENSG00000021762. [Q9H0X9-2]
ENST00000389989; ENSP00000374639; ENSG00000021762. [Q9H0X9-2]
ENST00000525498; ENSP00000433342; ENSG00000021762. [Q9H0X9-3]
GeneIDi114879.
KEGGihsa:114879.
UCSCiuc001lxk.2. human. [Q9H0X9-1]
uc001lxl.2. human. [Q9H0X9-2]

Organism-specific databases

CTDi114879.
GeneCardsiGC11M003108.
HGNCiHGNC:16392. OSBPL5.
HPAiHPA038712.
HPA058727.
MIMi606733. gene.
neXtProtiNX_Q9H0X9.
PharmGKBiPA32829.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG262374.
GeneTreeiENSGT00550000074515.
HOGENOMiHOG000233870.
HOVERGENiHBG053375.
InParanoidiQ9H0X9.
OMAiWFLLCIF.
OrthoDBiEOG7D59MQ.
PhylomeDBiQ9H0X9.
TreeFamiTF312807.

Miscellaneous databases

ChiTaRSiOSBPL5. human.
GeneWikiiOSBPL5.
GenomeRNAii114879.
NextBioi35475409.
PROiQ9H0X9.
SOURCEiSearch...

Gene expression databases

BgeeiQ9H0X9.
CleanExiHS_OSBPL5.
ExpressionAtlasiQ9H0X9. baseline and differential.
GenevestigatoriQ9H0X9.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR000648. Oxysterol-bd.
IPR018494. Oxysterol-bd_CS.
IPR001849. PH_domain.
IPR011993. PH_like_dom.
[Graphical view]
PANTHERiPTHR10972. PTHR10972. 1 hit.
PfamiPF01237. Oxysterol_BP. 1 hit.
PF00169. PH. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
[Graphical view]
PROSITEiPS01013. OSBP. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Characterization and imprinting status of OBPH1/Obph1 gene: implications for an extended imprinting domain in human and mouse."
    Higashimoto K., Soejima H., Yatsuki H., Joh K., Uchiyama M., Obata Y., Ono R., Wang Y., Xin Z., Zhu X., Masuko S., Ishino F., Hatada I., Jinno Y., Iwasaka T., Katsuki T., Mukai T.
    Genomics 80:575-584(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), IMPRINTING, TISSUE SPECIFICITY.
  2. "A family of 12 human genes containing oxysterol-binding domains."
    Jaworski C.J., Moreira E., Li A., Lee R., Rodriguez I.R.
    Genomics 78:185-196(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  3. "Isolation and characterization of human oxysterol-binding protein-related protein-5 (ORP-5)."
    Anniss A.M., Apostolopoulos J., Sparrow R.L.
    Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Liver.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Uterus.
  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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
    Tissue: Small intestine and Spleen.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. 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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Brain and Uterus.
  9. "The OSBP-related protein family in humans."
    Lehto M., Laitinen S., Chinetti G., Johansson M., Ehnholm C., Staels B., Ikonen E., Olkkonen V.M.
    J. Lipid Res. 42:1203-1213(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-61 (ISOFORM 1).
  10. "Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
    DNA Res. 7:143-150(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 30-879 (ISOFORM 1).
    Tissue: Brain.
  11. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-747, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  12. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-747, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  13. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-747, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  14. "A role for oxysterol-binding protein-related protein 5 in endosomal cholesterol trafficking."
    Du X., Kumar J., Ferguson C., Schulz T.A., Ong Y.S., Hong W., Prinz W.A., Parton R.G., Brown A.J., Yang H.
    J. Cell Biol. 192:121-135(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.

Entry informationi

Entry nameiOSBL5_HUMAN
AccessioniPrimary (citable) accession number: Q9H0X9
Secondary accession number(s): A6NDP0
, A6NJS8, B4DVB0, Q54A90, Q8N596, Q9BZB0, Q9P1Z4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 11, 2002
Last sequence update: March 1, 2001
Last modified: March 4, 2015
This is version 118 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Miscellaneous

The gene is imprinted in placenta, where it is predominantly expressed from the maternal allele only. Not imprinted in other tissues.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.