Q14849 (STAR3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	445 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Lipid transport Steroidogenesis Transport
Cellular component	Endosome Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Ligand	Lipid-binding
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cholesterol metabolic process Traceable author statement Ref.2. Source: ProtInc cholesterol transport Inferred from electronic annotation. Source: GOC mitochondrial transport Traceable author statement Ref.2. Source: ProtInc progesterone biosynthetic process Inferred from electronic annotation. Source: Compara
Cellular_component	cytoplasm Traceable author statement PubMed 9139840. Source: ProtInc integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW late endosome membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	cholesterol binding Inferred from direct assay PubMed 12011453. Source: MGI cholesterol transporter activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

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 key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 445

445

StAR-related lipid transfer protein 3

PRO_0000220653

Regions

Topological domain

1 – 51

51

Cytoplasmic Potential

Transmembrane

52 – 72

21

Helical; Potential

Topological domain

73 – 94

22

Extracellular Potential

Transmembrane

95 – 115

21

Helical; Potential

Topological domain

116 – 120

5

Cytoplasmic Potential

Transmembrane

121 – 141

21

Helical; Potential

Topological domain

142 – 148

7

Extracellular Potential

Transmembrane

149 – 169

21

Helical; Potential

Topological domain

170 – 445

276

Cytoplasmic Potential

Domain

46 – 217

172

MENTAL

Domain

230 – 443

214

START

Amino acid modifications

Modified residue

209

1

Phosphoserine By similarity

Modified residue

213

1

Phosphoserine By similarity

Modified residue

217

1

Phosphoserine By similarity

Modified residue

221

1

Phosphoserine By similarity

Natural variations

Alternative sequence

122 – 183

62

WVIAV…EEERW → SRRWCPVHSSLSRSSSLSCS AKGHLATCSPSSLLSSPGWR PGSLTSKSYPRKLKRSDSAP PG in isoform 3.

VSP_045361

Alternative sequence

126 – 143

18

Missing in isoform 2.

VSP_042710

Natural variant

117

1

R → Q. Ref.1 Ref.2 Ref.3 Ref.4 Ref.6
Corresponds to variant rs1877031 [ dbSNP | Ensembl ].

VAR_027877

Natural variant

216

1

G → A. Ref.6
Corresponds to variant rs11556624 [ dbSNP | Ensembl ].

VAR_027878

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

445

Helix Strand Turn

Details...

Helix

233 – 253

21

Helix

254 – 258

5

Beta strand

260 – 264

5

Beta strand

270 – 276

7

Turn

277 – 279

3

Beta strand

280 – 291

12

Helix

293 – 299

7

Turn

300 – 302

3

Helix

304 – 307

4

Turn

308 – 310

3

Beta strand

314 – 323

10

Turn

324 – 326

3

Beta strand

327 – 334

8

Turn

338 – 341

4

Beta strand

345 – 355

11

Beta strand

357 – 366

10

Beta strand

378 – 380

3

Beta strand

385 – 392

8

Beta strand

400 – 406

7

Beta strand

412 – 414

3

Helix

416 – 440

25

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 17, 2006. Version 2. Checksum: 8EBFBAF013CFDC7E	FASTA	445	50,502
	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
	Isoform 2 [UniParc]. Checksum: 2B97748DBDD1C4CE	FASTA	427	48,601
	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 WWVIALLSKG AFGYLLPIVS FVLAWLETWF LDFKVLPQEA EEERWYLAAQ VAVARGPLLF 190 200 210 220 230 240 SGALSEGQFY SPPESFAGSD NESDEEVAGK KSFSAQEREY IRQGKEATAV VDQILAQEEN 250 260 270 280 290 300 WKFEKNNEYG DTVYTIEVPF HGKTFILKTF LPCPAELVYQ EVILQPERMV LWNKTVTACQ 310 320 330 340 350 360 ILQRVEDNTL ISYDVSAGAA GGVVSPRDFV NVRRIERRRD RYLSSGIATS HSAKPPTHKY 370 380 390 400 410 420 VRGENGPGGF IVLKSASNPR VCTFVWILNT DLKGRLPRYL IHQSLAATMF EFAFHLRQRI SELGARA
	Isoform 3 [UniParc]. Checksum: F5A010E90FC97121	FASTA	445	49,960
	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 WSRRWCPVHS SLSRSSSLSC SAKGHLATCS PSSLLSSPGW RPGSLTSKSY PRKLKRSDSA 190 200 210 220 230 240 PPGYLAAQVA 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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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.

IPI

IPI00000865.
IPI00791237.
IPI00797338.

PIR

I38027.

RefSeq

NP_001159409.1. NM_001165937.1.
NP_001159410.1. NM_001165938.1.
NP_006795.3. NM_006804.3.

UniGene

Hs.728838.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1EM2	X-ray	2.20	A	216-444	[»]
2I92	model	-	A	230-443	[»]

ProteinModelPortal

Q14849.

ModBase

Search...

Protein-protein interaction databases

STRING

9606.ENSP00000337446.

Protein family/group databases

TCDB

9.B.64.1.1. putative cholesterol transporter (Start1) family.

PTM databases

PhosphoSite

Q14849.

Polymorphism databases

DMDM

116242802.

Proteomic databases

PaxDb

Q14849.

PRIDE

Q14849.

Protocols and materials databases

DNASU

10948.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000336308; ENSP00000337446; ENSG00000131748.
ENST00000394250; ENSP00000377794; ENSG00000131748.
ENST00000544210; ENSP00000439869; ENSG00000131748.

GeneID

10948.

KEGG

hsa:10948.

UCSC

uc002hsd.3. human.

Organism-specific databases

CTD

10948.

GeneCards

GC17P037793.

HGNC

HGNC:17579. STARD3.

HPA

CAB017021.

MIM

607048. gene.

neXtProt

NX_Q14849.

PharmGKB

PA134981867.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG242039.

HOGENOM

HOG000015362.

HOVERGEN

HBG052482.

InParanoid

Q14849.

OMA

FIWVLNT.

OrthoDB

EOG4KSPJV.

PhylomeDB

Q14849.

Gene expression databases

ArrayExpress

Q14849.

Bgee

Q14849.

CleanEx

HS_STARD3.

Genevestigator

Q14849.

GermOnline

ENSG00000131748. Homo sapiens.

Family and domain databases

Gene3D

3.30.530.20. 1 hit.

InterPro

IPR019498. MENTAL.
IPR000799. StAR.
IPR023393. START-like_dom.
IPR002913. START_lipid-bd_dom.
[Graphical view]

Pfam

PF10457. MENTAL. 1 hit.
PF01852. START. 1 hit.
[Graphical view]

PRINTS

PR00978. STARPROTEIN.

SMART

SM00234. START. 1 hit.
[Graphical view]

PROSITE

PS51439. MENTAL. 1 hit.
PS50848. START. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

STARD3. human.

EvolutionaryTrace

Q14849.

GenomeRNAi

10948.

NextBio

41597.

SOURCE

Search...

Entry information

Entry name

STAR3_HUMAN

Accession

Primary (citable) accession number: Q14849
Secondary accession number(s): A8MXA4 , B4DUY1, F5H0G2, Q53Y53, Q96HM9

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	October 17, 2006
Last modified:	May 1, 2013
This is version 129 of the entry and version 2 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.