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Q14849 (STAR3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 142. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
StAR-related lipid transfer protein 3
Alternative name(s):
Metastatic lymph node gene 64 protein
Short name=MLN 64
Protein CAB1
START domain-containing protein 3
Short name=StARD3
Gene names
Name:STARD3
Synonyms:CAB1, MLN64
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length445 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Binds and transports cholesterol. Promotes steroidogenesis in placenta and brain.

Subunit structure

Can form homodimers. Interacts with STARD3NL. Ref.7

Subcellular location

Late endosome membrane; Multi-pass membrane protein.

Sequence similarities

Contains 1 MENTAL domain.

Contains 1 START domain.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q14849-1)

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: Q14849-2)

The sequence of this isoform differs from the canonical sequence as follows:
     126-143: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q14849-3)

The sequence of this isoform differs from the canonical sequence as follows:
     122-183: WVIAVTTLVS...LPQEAEEERW → SRRWCPVHSS...LKRSDSAPPG
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 445445StAR-related lipid transfer protein 3
PRO_0000220653

Regions

Topological domain1 – 5151Cytoplasmic Potential
Transmembrane52 – 7221Helical; Potential
Topological domain73 – 9422Extracellular Potential
Transmembrane95 – 11521Helical; Potential
Topological domain116 – 1205Cytoplasmic Potential
Transmembrane121 – 14121Helical; Potential
Topological domain142 – 1487Extracellular Potential
Transmembrane149 – 16921Helical; Potential
Topological domain170 – 445276Cytoplasmic Potential
Domain46 – 217172MENTAL
Domain230 – 443214START

Natural variations

Alternative sequence122 – 18362WVIAV…EEERW → SRRWCPVHSSLSRSSSLSCS AKGHLATCSPSSLLSSPGWR PGSLTSKSYPRKLKRSDSAP PG in isoform 3.
VSP_045361
Alternative sequence126 – 14318Missing in isoform 2.
VSP_042710
Natural variant1171R → Q. Ref.1 Ref.2 Ref.3 Ref.4 Ref.6
Corresponds to variant rs1877031 [ dbSNP | Ensembl ].
VAR_027877
Natural variant2161G → A. Ref.6
Corresponds to variant rs11556624 [ dbSNP | Ensembl ].
VAR_027878

Secondary structure

.................................... 445
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 17, 2006. Version 2.
Checksum: 8EBFBAF013CFDC7E

FASTA44550,502
        10         20         30         40         50         60 
MSKLPRELTR DLERSLPAVA SLGSSLSHSQ SLSSHLLPPP EKRRAISDVR RTFCLFVTFD 

        70         80         90        100        110        120 
LLFISLLWII ELNTNTGIRK NLEQEIIQYN FKTSFFDIFV LAFFRFSGLL LGYAVLRLRH 

       130        140        150        160        170        180 
WWVIAVTTLV SSAFLIVKVI LSELLSKGAF GYLLPIVSFV LAWLETWFLD FKVLPQEAEE 

       190        200        210        220        230        240 
ERWYLAAQVA VARGPLLFSG ALSEGQFYSP PESFAGSDNE SDEEVAGKKS FSAQEREYIR 

       250        260        270        280        290        300 
QGKEATAVVD QILAQEENWK FEKNNEYGDT VYTIEVPFHG KTFILKTFLP CPAELVYQEV 

       310        320        330        340        350        360 
ILQPERMVLW NKTVTACQIL QRVEDNTLIS YDVSAGAAGG VVSPRDFVNV RRIERRRDRY 

       370        380        390        400        410        420 
LSSGIATSHS AKPPTHKYVR GENGPGGFIV LKSASNPRVC TFVWILNTDL KGRLPRYLIH 

       430        440 
QSLAATMFEF AFHLRQRISE LGARA 

« Hide

Isoform 2 [UniParc].

Checksum: 2B97748DBDD1C4CE
Show »

FASTA42748,601
Isoform 3 [UniParc].

Checksum: F5A010E90FC97121
Show »

FASTA44549,960

References

« Hide 'large scale' references
[1]"Identification of four novel human genes amplified and overexpressed in breast carcinoma and localized to the q11-q21.3 region of chromosome 17."
Tomasetto C.L., Regnier C.H., Moog-Lutz C., Mattei M.-G., Chenard M.-P., Lidereau R., Basset P., Rio M.-C.
Genomics 28:367-376(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT GLN-117.
Tissue: Mammary carcinoma.
[2]"Isolation of a candidate gene, CAB1, for cholesterol transport to mitochondria from the c-ERBB-2 amplicon by a modified cDNA selection method."
Akiyama N., Sasaki H., Ishizuka T., Kishi T., Sakamoto H., Onda M., Hirai H., Yazaki Y., Sugimura T., Terada M.
Cancer Res. 57:3548-3553(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT GLN-117.
Tissue: Esophageal carcinoma.
[3]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLN-117.
[4]"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. expand/collapse author list , 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 2 AND 3), VARIANT GLN-117.
Tissue: Placenta and Small intestine.
[5]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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] (ISOFORM 1), VARIANTS GLN-117 AND ALA-216.
Tissue: Lung, Skin and Spleen.
[7]"MLN64 and MENTHO, two mediators of endosomal cholesterol transport."
Alpy F., Tomasetto C.
Biochem. Soc. Trans. 34:343-345(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: HOMODIMERIZATION, INTERACTION WITH STARD3NL.
[8]"Structure and lipid transport mechanism of a StAR-related domain."
Tsujishita Y., Hurley J.H.
Nat. Struct. Biol. 7:408-414(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 216-445.
[9]"The steroidogenic acute regulatory protein homolog MLN64, a late endosomal cholesterol-binding protein."
Alpy F., Stoeckel M.-E., Dierich A., Escola J.-M., Wendling C., Chenard M.-P., Vanier M.T., Gruenberg J., Tomasetto C., Rio M.-C.
J. Biol. Chem. 276:4261-4269(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: TOPOLOGY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X80198 mRNA. Translation: CAA56489.1.
D38255 mRNA. Translation: BAA22525.1.
BT006964 mRNA. Translation: AAP35610.1.
AK300176 mRNA. Translation: BAG61955.1.
AK300842 mRNA. Translation: BAG62493.1.
AC087491 Genomic DNA. No translation available.
BC008356 mRNA. Translation: AAH08356.1.
BC008747 mRNA. Translation: AAH08747.1.
BC025679 mRNA. Translation: AAH25679.1.
CCDSCCDS11341.1. [Q14849-1]
CCDS54117.1. [Q14849-3]
CCDS54118.1. [Q14849-2]
PIRI38027.
RefSeqNP_001159409.1. NM_001165937.1. [Q14849-3]
NP_001159410.1. NM_001165938.1. [Q14849-2]
NP_006795.3. NM_006804.3. [Q14849-1]
XP_006721708.1. XM_006721645.1. [Q14849-1]
UniGeneHs.728838.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1EM2X-ray2.20A216-444[»]
2I92model-A230-443[»]
ProteinModelPortalQ14849.
SMRQ14849. Positions 230-443.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000337446.

Protein family/group databases

TCDB9.B.64.1.1. the putative cholesterol transporter (start1) family.

PTM databases

PhosphoSiteQ14849.

Polymorphism databases

DMDM116242802.

Proteomic databases

MaxQBQ14849.
PaxDbQ14849.
PRIDEQ14849.

Protocols and materials databases

DNASU10948.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000336308; ENSP00000337446; ENSG00000131748. [Q14849-1]
ENST00000394250; ENSP00000377794; ENSG00000131748. [Q14849-2]
ENST00000544210; ENSP00000439869; ENSG00000131748. [Q14849-3]
GeneID10948.
KEGGhsa:10948.
UCSCuc002hsd.3. human. [Q14849-1]
uc002hse.3. human. [Q14849-2]

Organism-specific databases

CTD10948.
GeneCardsGC17P037793.
HGNCHGNC:17579. STARD3.
HPACAB017021.
MIM607048. gene.
neXtProtNX_Q14849.
PharmGKBPA134981867.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG242039.
HOGENOMHOG000015362.
HOVERGENHBG052482.
InParanoidQ14849.
OrthoDBEOG74FF0Z.
PhylomeDBQ14849.
TreeFamTF313869.

Gene expression databases

ArrayExpressQ14849.
BgeeQ14849.
CleanExHS_STARD3.
GenevestigatorQ14849.

Family and domain databases

Gene3D3.30.530.20. 1 hit.
InterProIPR019498. MENTAL.
IPR000799. StAR.
IPR023393. START-like_dom.
IPR002913. START_lipid-bd_dom.
[Graphical view]
PfamPF10457. MENTAL. 1 hit.
PF01852. START. 1 hit.
[Graphical view]
PRINTSPR00978. STARPROTEIN.
SMARTSM00234. START. 1 hit.
[Graphical view]
PROSITEPS51439. MENTAL. 1 hit.
PS50848. START. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSTARD3. human.
EvolutionaryTraceQ14849.
GenomeRNAi10948.
NextBio41597.
PROQ14849.
SOURCESearch...

Entry information

Entry nameSTAR3_HUMAN
AccessionPrimary (citable) accession number: Q14849
Secondary accession number(s): A8MXA4 expand/collapse secondary AC list , B4DUY1, F5H0G2, Q53Y53, Q96HM9
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: October 17, 2006
Last modified: July 9, 2014
This is version 142 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM